GeneDx, GDX
General information
GeneDx, GDX
207 Perry Parkway
Gaithersburg
Maryland
United States - 20877
http://www.genedx.com/
Organization ID: 26957
207 Perry Parkway
Gaithersburg
Maryland
United States - 20877
http://www.genedx.com/
Organization ID: 26957
Personnel
- Amber Love, Contact
Phone: 301-519-2100
Email: alove@genedx.com
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 121912
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| A2ML1 | 163 | Jan 29, 2019 |
| AAAS | 17 | Jan 29, 2019 |
| AAGAB | 1 | Mar 13, 2019 |
| AARS1 | 124 | Oct 15, 2019 |
| AARS2 | 115 | Oct 15, 2019 |
| AASS | 2 | Jan 29, 2019 |
| ABAT | 3 | Jan 29, 2019 |
| ABCA1 | 1 | Jan 29, 2019 |
| ABCA12 | 38 | Oct 15, 2019 |
| ABCA13 | 5 | Jan 29, 2019 |
| ABCA3 | 7 | Oct 15, 2019 |
| ABCA4 | 269 | Oct 15, 2019 |
| ABCB1 | 5 | Apr 12, 2019 |
| ABCB11 | 64 | Apr 12, 2019 |
| ABCB4 | 58 | Apr 12, 2019 |
| ABCB6 | 1 | Jan 29, 2019 |
| ABCB7 | 34 | Apr 12, 2019 |
| ABCC2 | 3 | Oct 15, 2019 |
| ABCC6 | 65 | Apr 12, 2019 |
| ABCC8 | 7 | Jan 29, 2019 |
| ABCC9 | 230 | Apr 12, 2019 |
| ABCD1 | 35 | Oct 15, 2019 |
| ABCD4 | 62 | Apr 12, 2019 |
| ABCG5 | 4 | Oct 15, 2019 |
| ABCG8 | 4 | Jan 29, 2019 |
| ABHD12 | 19 | Oct 15, 2019 |
| ABHD14A-ACY1 | 1 | Jan 29, 2019 |
| ABHD18 | 2 | Apr 12, 2019 |
| ABHD5 | 11 | Apr 12, 2019 |
| ABL1 | 1 | Jan 29, 2019 |
| ABR | 1 | Jun 21, 2014 |
| ABRA | 1 | Jun 21, 2014 |
| ABRAXAS1 | 16 | Jan 29, 2019 |
| ACACB | 1 | Jun 21, 2014 |
| ACAD8 | 18 | Apr 12, 2019 |
| ACAD9 | 88 | Oct 15, 2019 |
| ACADL | 1 | Jan 29, 2019 |
| ACADM | 69 | Apr 12, 2019 |
| ACADS | 49 | Sep 17, 2019 |
| ACADSB | 3 | Jan 29, 2019 |
| ACADVL | 110 | Oct 15, 2019 |
| ACAN | 14 | Oct 15, 2019 |
| ACAT1 | 10 | Jan 29, 2019 |
| ACBD5 | 2 | Mar 13, 2019 |
| ACBD6 | 4 | Jan 29, 2019 |
| ACD | 2 | Jan 29, 2019 |
| ACE | 9 | Jan 29, 2019 |
| ACMSD | 1 | Apr 12, 2019 |
| ACO2 | 68 | Apr 12, 2019 |
| ACOT7 | 1 | Jan 29, 2019 |
| ACOX1 | 2 | Apr 12, 2019 |
| ACSF3 | 79 | Apr 12, 2019 |
| ACSL4 | 5 | Jan 29, 2019 |
| ACTA1 | 42 | Oct 15, 2019 |
| ACTA2 | 74 | Apr 12, 2019 |
| ACTA2-AS1 | 25 | Apr 12, 2019 |
| ACTB | 71 | Jan 29, 2019 |
| ACTC1 | 92 | Apr 12, 2019 |
| ACTG1 | 122 | Jan 29, 2019 |
| ACTG2 | 10 | Jan 29, 2019 |
| ACTN1 | 2 | Jan 29, 2019 |
| ACTN2 | 242 | Apr 12, 2019 |
| ACTN4 | 4 | Jan 29, 2019 |
| ACVR1 | 3 | Jan 29, 2019 |
| ACVR2B | 2 | Mar 26, 2018 |
| ACVRL1 | 56 | Apr 12, 2019 |
| ACY1 | 1 | Jan 29, 2019 |
| ACYP1 | 1 | Nov 28, 2017 |
| ADA | 19 | Jan 29, 2019 |
| ADA2 | 4 | Jan 29, 2019 |
| ADAM22 | 1 | Apr 12, 2019 |
| ADAM9 | 6 | Apr 12, 2019 |
| ADAMTS10 | 5 | Apr 12, 2019 |
| ADAMTS13 | 5 | Jan 29, 2019 |
| ADAMTS2 | 173 | Apr 12, 2019 |
| ADAMTS4 | 1 | Mar 26, 2018 |
| ADAMTSL2 | 23 | Apr 12, 2019 |
| ADAMTSL4 | 13 | Apr 12, 2019 |
| ADAMTSL4-AS2 | 5 | Apr 12, 2019 |
| ADAR | 15 | Oct 15, 2019 |
| ADAT3 | 7 | Jan 29, 2019 |
| ADCY1 | 1 | Jan 29, 2019 |
| ADCY10 | 1 | Jan 29, 2019 |
| ADCY2 | 1 | Jun 21, 2014 |
| ADCY5 | 27 | Oct 15, 2019 |
| ADGRG1 | 47 | Apr 12, 2019 |
| ADGRG6 | 1 | Jan 29, 2019 |
| ADGRL3 | 1 | Jul 13, 2016 |
| ADGRV1 | 267 | Oct 15, 2019 |
| ADIPOQ | 2 | Jan 29, 2019 |
| ADIPOQ-AS1 | 2 | Jan 29, 2019 |
| ADNP | 42 | Oct 15, 2019 |
| ADNP-AS1 | 6 | Jan 29, 2019 |
| ADRA2A | 1 | Mar 26, 2018 |
| ADRB1 | 1 | Mar 26, 2018 |
| ADSL | 124 | Apr 12, 2019 |
| ADSS1 | 1 | Mar 26, 2018 |
| AFF2 | 20 | Oct 29, 2020 |
| AFF4 | 2 | Jan 29, 2019 |
| AFG3L2 | 68 | Apr 12, 2019 |
| AGA | 14 | Apr 12, 2019 |
| AGAP1 | 1 | Jun 21, 2014 |
| AGBL4 | 4 | Jun 21, 2014 |
| AGK | 54 | Apr 12, 2019 |
| AGL | 113 | Oct 15, 2019 |
| AGO1 | 1 | Jan 29, 2019 |
| AGPAT2 | 4 | Jan 29, 2019 |
| AGPS | 25 | Apr 12, 2019 |
| AGRN | 106 | Apr 12, 2019 |
| AGT | 4 | Apr 12, 2019 |
| AGTR2 | 9 | Jan 29, 2019 |
| AGXT | 6 | Apr 12, 2019 |
| AHCY | 4 | Jan 29, 2019 |
| AHDC1 | 40 | Oct 15, 2019 |
| AHI1 | 96 | Oct 15, 2019 |
| AHRR | 1 | Jun 21, 2014 |
| AICDA | 2 | Jan 29, 2019 |
| AIFM1 | 45 | Apr 12, 2019 |
| AIMP1 | 1 | Jan 29, 2019 |
| AIP | 5 | Jan 29, 2019 |
| AIPL1 | 6 | Jan 29, 2019 |
| AIRE | 26 | Oct 15, 2019 |
| AK2 | 6 | Jan 29, 2019 |
| AK9 | 1 | Apr 12, 2019 |
| AKAP10 | 1 | Jan 29, 2019 |
| AKAP9 | 120 | Apr 12, 2019 |
| AKR1D1 | 1 | Jan 29, 2019 |
| AKR1E2 | 1 | Apr 12, 2019 |
| AKT1 | 2 | Mar 26, 2018 |
| AKT3 | 30 | Apr 12, 2019 |
| ALAD | 4 | Jan 29, 2019 |
| ALAS2 | 52 | Apr 12, 2019 |
| ALB | 1 | Oct 15, 2019 |
| ALDH18A1 | 85 | Apr 12, 2019 |
| ALDH1A3 | 7 | Apr 12, 2019 |
| ALDH1A3-AS1 | 6 | Apr 12, 2019 |
| ALDH1B1 | 24 | Jan 29, 2019 |
| ALDH3A2 | 17 | Mar 13, 2019 |
| ALDH5A1 | 14 | Oct 15, 2019 |
| ALDH7A1 | 196 | Oct 15, 2019 |
| ALDOA | 41 | Jan 29, 2019 |
| ALDOB | 26 | Apr 12, 2019 |
| ALG1 | 50 | Apr 12, 2019 |
| ALG11 | 15 | Jan 29, 2019 |
| ALG12 | 4 | Apr 12, 2019 |
| ALG13 | 135 | Apr 12, 2019 |
| ALG14 | 8 | Jan 29, 2019 |
| ALG14-AS1 | 4 | Jan 29, 2019 |
| ALG2 | 24 | Apr 12, 2019 |
| ALG3 | 19 | Oct 15, 2019 |
| ALG6 | 34 | Apr 12, 2019 |
| ALG8 | 5 | Jan 29, 2019 |
| ALG9 | 34 | Apr 12, 2019 |
| ALK | 85 | Apr 12, 2019 |
| ALMS1 | 337 | Oct 15, 2019 |
| ALOX12B | 19 | Mar 13, 2019 |
| ALOXE3 | 10 | Oct 15, 2019 |
| ALPK3 | 177 | Oct 15, 2019 |
| ALPL | 18 | Jan 29, 2019 |
| ALS2 | 13 | Jan 29, 2019 |
| ALX4 | 3 | Jan 29, 2019 |
| AMACR | 17 | Mar 26, 2018 |
| AMD1 | 2 | Jul 27, 2020 |
| AMER1 | 10 | Oct 15, 2019 |
| AMH | 4 | Jan 29, 2019 |
| AMHR2 | 2 | Jan 29, 2019 |
| AMMECR1 | 2 | Oct 15, 2019 |
| AMN | 1 | Nov 28, 2017 |
| AMPD1 | 7 | Jan 29, 2019 |
| AMPD2 | 7 | Mar 13, 2019 |
| AMT | 6 | Oct 15, 2019 |
| ANAPC1 | 1 | Jun 21, 2014 |
| ANAPC15 | 4 | Apr 12, 2019 |
| ANGPT2 | 2 | Jan 29, 2019 |
| ANK1 | 4 | Jan 29, 2019 |
| ANK2 | 402 | Oct 15, 2019 |
| ANK3 | 61 | Oct 15, 2019 |
| ANKH | 2 | Jan 29, 2019 |
| ANKRD1 | 71 | Apr 12, 2019 |
| ANKRD11 | 120 | Oct 15, 2019 |
| ANKRD26 | 7 | Jan 29, 2019 |
| ANKRD30A | 1 | Jun 21, 2014 |
| ANKRD30B | 2 | Jun 21, 2014 |
| ANKS1B | 1 | Jun 21, 2014 |
| ANKS6 | 6 | Jan 29, 2019 |
| ANO10 | 12 | Apr 12, 2019 |
| ANO3 | 6 | Jan 29, 2019 |
| ANO5 | 106 | Apr 12, 2019 |
| ANO6 | 2 | Jan 29, 2019 |
| ANOS1 | 24 | Oct 15, 2019 |
| ANTXR2 | 4 | Jan 29, 2019 |
| AOPEP | 173 | Apr 12, 2019 |
| AP1S1 | 2 | Mar 13, 2019 |
| AP1S2 | 6 | Jan 29, 2019 |
| AP2S1 | 4 | Jan 29, 2019 |
| AP3B2 | 6 | Oct 15, 2019 |
| AP4B1 | 19 | Oct 15, 2019 |
| AP4B1-AS1 | 14 | Oct 15, 2019 |
| AP4E1 | 48 | Apr 12, 2019 |
| AP4M1 | 31 | Oct 15, 2019 |
| AP4S1 | 10 | Apr 12, 2019 |
| AP5Z1 | 6 | Oct 15, 2019 |
| APBB1 | 2 | Jan 29, 2019 |
| APC | 1007 | Oct 15, 2019 |
| APEX2 | 1 | Apr 12, 2019 |
| APIP | 4 | Apr 12, 2019 |
| APOA1 | 1 | Jan 29, 2019 |
| APOA1-AS | 1 | Jan 29, 2019 |
| APOA5 | 3 | Jan 29, 2019 |
| APOB | 133 | Apr 12, 2019 |
| APOB3'MAR | 1 | Jan 29, 2019 |
| APOC2 | 1 | Jan 29, 2019 |
| APOC3 | 2 | Apr 12, 2019 |
| APOC4-APOC2 | 1 | Jan 29, 2019 |
| APOE | 2 | Jan 29, 2019 |
| APOO | 1 | Jun 21, 2014 |
| APP | 4 | Jan 29, 2019 |
| APTX | 34 | Jan 29, 2019 |
| AQP2 | 1 | Jan 29, 2019 |
| AR | 51 | Oct 15, 2019 |
| ARFGEF1 | 19 | Apr 12, 2019 |
| ARFGEF1-DT | 4 | Jan 29, 2019 |
| ARFGEF2 | 89 | Oct 15, 2019 |
| ARG1 | 18 | Apr 12, 2019 |
| ARHGAP21 | 1 | Jan 29, 2019 |
| ARHGAP24 | 3 | Jan 29, 2019 |
| ARHGAP31 | 3 | Jan 29, 2019 |
| ARHGAP33 | 1 | Mar 26, 2018 |
| ARHGAP5 | 1 | Jun 21, 2014 |
| ARHGAP9 | 3 | Jan 29, 2019 |
| ARHGEF10 | 6 | Jan 29, 2019 |
| ARHGEF15 | 1 | Mar 26, 2018 |
| ARHGEF6 | 10 | Jan 29, 2019 |
| ARHGEF9 | 46 | Oct 15, 2019 |
| ARID1A | 19 | Jan 29, 2019 |
| ARID1B | 105 | Oct 15, 2019 |
| ARID2 | 12 | Oct 15, 2019 |
| ARL13B | 23 | Apr 12, 2019 |
| ARL6IP1 | 1 | Mar 13, 2019 |
| ARMC5 | 1 | Jan 29, 2019 |
| ARSA | 23 | Oct 15, 2019 |
| ARSB | 20 | Apr 12, 2019 |
| ARSL | 34 | Apr 12, 2019 |
| ARV1 | 2 | Oct 15, 2019 |
| ARX | 81 | Oct 15, 2019 |
| ASAH1 | 45 | Oct 15, 2019 |
| ASB10 | 3 | Apr 12, 2019 |
| ASB18 | 2 | Dec 21, 2016 |
| ASCC3 | 4 | Jan 29, 2019 |
| ASH1L | 4 | Oct 15, 2019 |
| ASIC4-AS1 | 37 | Oct 15, 2019 |
| ASL | 46 | Apr 12, 2019 |
| ASNS | 13 | Oct 15, 2019 |
| ASPA | 8 | Jan 29, 2019 |
| ASPH | 1 | Jan 29, 2019 |
| ASPM | 251 | Oct 15, 2019 |
| ASPN | 1 | Jan 29, 2019 |
| ASS1 | 59 | Apr 12, 2019 |
| ASTN2 | 30 | Apr 12, 2019 |
| ASXL1 | 27 | Oct 15, 2019 |
| ASXL2 | 4 | Oct 15, 2019 |
| ASXL3 | 46 | Oct 15, 2019 |
| ATAD3A | 8 | Jan 29, 2019 |
| ATF2 | 1 | Jan 29, 2019 |
| ATF6 | 1 | Mar 13, 2019 |
| ATG7 | 1 | Jun 21, 2014 |
| ATL1 | 55 | Apr 12, 2019 |
| ATL3 | 3 | Jan 29, 2019 |
| ATM | 1868 | Oct 29, 2020 |
| ATN1 | 5 | Jan 29, 2019 |
| ATP10A | 3 | Jan 29, 2019 |
| ATP11C | 1 | Jan 29, 2019 |
| ATP13A2 | 8 | Jan 29, 2019 |
| ATP13A4 | 2 | Apr 12, 2019 |
| ATP1A2 | 209 | Oct 15, 2019 |
| ATP1A3 | 37 | Apr 12, 2019 |
| ATP2A1 | 92 | Oct 15, 2019 |
| ATP2A2 | 27 | Oct 15, 2019 |
| ATP2B2 | 7 | Jan 29, 2019 |
| ATP2B3 | 17 | Jan 29, 2019 |
| ATP2C1 | 14 | Oct 15, 2019 |
| ATP5F1A | 40 | Apr 12, 2019 |
| ATP5F1E | 11 | Apr 12, 2019 |
| ATP6AP1 | 3 | Apr 12, 2019 |
| ATP6AP2 | 51 | Apr 12, 2019 |
| ATP6V0A2 | 93 | Apr 12, 2019 |
| ATP6V0A4 | 6 | Jan 29, 2019 |
| ATP6V1B1 | 31 | Apr 12, 2019 |
| ATP6V1B1-AS1 | 2 | Mar 26, 2018 |
| ATP6V1B2 | 3 | Jan 29, 2019 |
| ATP6V1E1 | 1 | Jan 29, 2019 |
| ATP7A | 99 | Apr 12, 2019 |
| ATP7B | 141 | Oct 15, 2019 |
| ATP8A2 | 13 | Jan 29, 2019 |
| ATP8B1 | 71 | Sep 10, 2020 |
| ATPAF2 | 30 | Apr 12, 2019 |
| ATR | 76 | Apr 12, 2019 |
| ATRIP | 16 | Oct 15, 2019 |
| ATRIP-TREX1 | 16 | Oct 15, 2019 |
| ATRX | 60 | Apr 12, 2019 |
| ATXN1 | 1 | Jan 29, 2019 |
| ATXN2 | 1 | Jan 29, 2019 |
| ATXN7L3-AS1 | 3 | Mar 13, 2019 |
| AUH | 40 | Apr 12, 2019 |
| AUTS2 | 37 | Oct 15, 2019 |
| AVP | 2 | Jan 29, 2019 |
| AVPR2 | 4 | Jan 29, 2019 |
| AXDND1 | 1 | Oct 15, 2019 |
| AXIN2 | 287 | Apr 12, 2019 |
| B3GALNT2 | 50 | Apr 12, 2019 |
| B3GALT6 | 32 | Apr 12, 2019 |
| B3GAT3 | 4 | Mar 13, 2019 |
| B3GLCT | 8 | Oct 15, 2019 |
| B3GNT4 | 3 | Mar 26, 2018 |
| B4GALNT1 | 23 | Oct 15, 2019 |
| B4GALT1 | 13 | Apr 12, 2019 |
| B4GALT1-AS1 | 3 | Jan 29, 2019 |
| B4GALT7 | 45 | Apr 12, 2019 |
| B4GAT1 | 24 | Apr 12, 2019 |
| B9D1 | 17 | Apr 12, 2019 |
| BAG3 | 129 | Oct 15, 2019 |
| BAG5 | 1 | Apr 12, 2019 |
| BAP1 | 71 | Apr 12, 2019 |
| BARD1 | 388 | Apr 12, 2019 |
| BBS1 | 13 | Oct 15, 2019 |
| BBS10 | 9 | Oct 15, 2019 |
| BBS12 | 2 | Jan 29, 2019 |
| BBS2 | 1 | Jan 29, 2019 |
| BBS4 | 3 | Jan 29, 2019 |
| BBS5 | 3 | Jan 29, 2019 |
| BBS7 | 2 | Jan 29, 2019 |
| BBS9 | 7 | Jan 29, 2019 |
| BCAP31 | 3 | Mar 13, 2019 |
| BCKDHA | 55 | Apr 12, 2019 |
| BCKDHB | 34 | Apr 12, 2019 |
| BCKDK | 3 | Jan 29, 2019 |
| BCL11A | 14 | Oct 15, 2019 |
| BCL11B | 6 | Apr 16, 2020 |
| BCL2L2-PABPN1 | 3 | Jan 29, 2019 |
| BCOR | 29 | Apr 12, 2019 |
| BCORL1 | 19 | Apr 12, 2019 |
| BCS1L | 51 | Apr 12, 2019 |
| BDNF | 1 | Mar 26, 2018 |
| BDNF-AS | 1 | Mar 26, 2018 |
| BDNF-AS1 | 1 | Mar 26, 2018 |
| BDP1 | 52 | Apr 12, 2019 |
| BEND2 | 1 | Jan 29, 2019 |
| BEST1 | 38 | Oct 15, 2019 |
| BET1 | 1 | Sep 10, 2020 |
| BFSP1 | 7 | Apr 12, 2019 |
| BFSP2 | 1 | Apr 12, 2019 |
| BGN | 1 | Oct 15, 2019 |
| BICC1 | 3 | Jan 29, 2019 |
| BICD2 | 67 | Apr 12, 2019 |
| BIN1 | 106 | Apr 12, 2019 |
| BLK | 3 | Nov 28, 2017 |
| BLM | 73 | Jan 29, 2019 |
| BLOC1S1-RDH5 | 6 | Apr 12, 2019 |
| BMP1 | 36 | Apr 12, 2019 |
| BMP15 | 7 | Apr 12, 2019 |
| BMP2 | 3 | Mar 13, 2019 |
| BMP4 | 6 | Apr 12, 2019 |
| BMP7 | 2 | Apr 12, 2019 |
| BMPER | 1 | Jan 29, 2019 |
| BMPR1A | 196 | Oct 15, 2019 |
| BMPR1B | 4 | Jan 29, 2019 |
| BMPR2 | 23 | Apr 12, 2019 |
| BOD1L1 | 1 | Jan 29, 2019 |
| BOLA3 | 16 | Apr 12, 2019 |
| BOLA3-AS1 | 1 | Apr 12, 2019 |
| BPNT2 | 2 | Jan 29, 2019 |
| BPTF | 7 | Oct 15, 2019 |
| BRAF | 179 | Jan 29, 2019 |
| BRAT1 | 14 | Oct 15, 2019 |
| BRCA1 | 1444 | Oct 15, 2019 |
| BRCA2 | 2364 | Jan 7, 2020 |
| BRD4 | 1 | Jan 29, 2019 |
| BRF1 | 2 | Jan 29, 2019 |
| BRIP1 | 523 | Jul 19, 2019 |
| BRPF1 | 9 | Oct 15, 2019 |
| BRSK2 | 1 | Jan 29, 2019 |
| BRWD1 | 1 | Mar 26, 2018 |
| BRWD3 | 26 | Mar 13, 2019 |
| BSCL2 | 57 | Apr 12, 2019 |
| BSND | 13 | Apr 12, 2019 |
| BTD | 37 | Jan 29, 2019 |
| BTK | 36 | Oct 15, 2019 |
| BTRC | 1 | Jan 29, 2019 |
| BUB1 | 1 | Jan 29, 2019 |
| BUB1B | 1 | Oct 15, 2019 |
| BUB1B-PAK6 | 1 | Oct 15, 2019 |
| C10orf105 | 29 | Apr 12, 2019 |
| C11orf65 | 715 | Oct 29, 2020 |
| C11orf72 | 1 | Apr 12, 2019 |
| C12orf29 | 3 | Jan 29, 2019 |
| C12orf4 | 1 | Jan 29, 2019 |
| C12orf43 | 2 | Apr 12, 2019 |
| C12orf57 | 4 | Mar 13, 2019 |
| C12orf60 | 2 | Jan 29, 2019 |
| C17orf107 | 27 | Oct 15, 2019 |
| C19orf12 | 17 | Apr 12, 2019 |
| C1QTNF3-AMACR | 17 | Mar 26, 2018 |
| C1QTNF5 | 4 | Oct 15, 2019 |
| C1R | 1 | Mar 26, 2018 |
| C2CD3 | 19 | Jan 29, 2019 |
| C3 | 7 | Jan 29, 2019 |
| C3orf80 | 1 | Mar 26, 2018 |
| C6 | 1 | Jan 29, 2019 |
| C7 | 3 | Jan 29, 2019 |
| C8A | 2 | Jan 29, 2019 |
| C8B | 1 | Jan 29, 2019 |
| C9 | 1 | Feb 15, 2017 |
| C9orf72 | 1 | Jan 29, 2019 |
| CA4 | 3 | Jan 29, 2019 |
| CA5A | 12 | Apr 12, 2019 |
| CABP2 | 8 | Oct 15, 2019 |
| CABP4 | 2 | Oct 15, 2019 |
| CACNA1A | 560 | Oct 15, 2019 |
| CACNA1C | 366 | Apr 12, 2019 |
| CACNA1C-AS1 | 79 | Apr 12, 2019 |
| CACNA1C-AS2 | 7 | Apr 12, 2019 |
| CACNA1D | 45 | Apr 12, 2019 |
| CACNA1E | 13 | Jan 29, 2019 |
| CACNA1F | 17 | Apr 12, 2019 |
| CACNA1G | 36 | Jan 29, 2019 |
| CACNA1G-AS1 | 1 | Jan 29, 2019 |
| CACNA1H | 40 | Apr 12, 2019 |
| CACNA1S | 243 | Apr 12, 2019 |
| CACNA2D1 | 107 | Apr 12, 2019 |
| CACNA2D1-AS1 | 9 | Apr 12, 2019 |
| CACNA2D2 | 4 | Mar 13, 2019 |
| CACNA2D4 | 5 | Jan 29, 2019 |
| CACNB2 | 119 | Apr 12, 2019 |
| CACNB4 | 41 | Jan 29, 2019 |
| CAD | 12 | Oct 15, 2019 |
| CADM2 | 2 | Jun 21, 2014 |
| CADPS2 | 1 | Jun 21, 2014 |
| CALHM1 | 1 | Jan 29, 2019 |
| CALM1 | 29 | Apr 12, 2019 |
| CALM2 | 26 | Apr 12, 2019 |
| CALM3 | 21 | Apr 12, 2019 |
| CALN1 | 2 | Jun 21, 2014 |
| CALR3 | 3 | Mar 26, 2018 |
| CAMK1D | 1 | Jun 21, 2014 |
| CAMK2A | 1 | Mar 13, 2019 |
| CAMK2B | 1 | Mar 13, 2019 |
| CAMK4 | 1 | Jun 21, 2014 |
| CAMTA1 | 21 | Oct 15, 2019 |
| CAMTA2 | 1 | Jan 29, 2019 |
| CANT1 | 3 | Jan 29, 2019 |
| CAPN1 | 4 | Oct 15, 2019 |
| CAPN10 | 1 | Mar 26, 2018 |
| CAPN2 | 1 | Jun 21, 2014 |
| CAPN3 | 129 | Oct 15, 2019 |
| CAPN5 | 1 | Jan 29, 2019 |
| CARD11 | 8 | Jan 29, 2019 |
| CARD11-AS1 | 1 | Jan 29, 2019 |
| CARD14 | 7 | Jan 29, 2019 |
| CARMIL2 | 1 | Mar 13, 2019 |
| CARS2 | 70 | Oct 15, 2019 |
| CASD1 | 11 | Oct 15, 2019 |
| CASK | 78 | Oct 15, 2019 |
| CASP10 | 3 | Jan 29, 2019 |
| CASQ1 | 5 | Jan 29, 2019 |
| CASQ2 | 106 | Apr 12, 2019 |
| CASR | 66 | Apr 12, 2019 |
| CASTOR3 | 1 | Jan 29, 2019 |
| CASZ1 | 3 | Jun 21, 2014 |
| CATIP-AS2 | 4 | Jan 29, 2019 |
| CATSPER2 | 6 | Jan 29, 2019 |
| CAV1 | 6 | Apr 12, 2019 |
| CAV3 | 64 | Apr 12, 2019 |
| CAVIN4 | 39 | Apr 12, 2019 |
| CBL | 120 | Jan 29, 2019 |
| CBR4 | 10 | Jan 29, 2019 |
| CBS | 196 | Apr 12, 2019 |
| CC2D1A | 2 | Jan 29, 2019 |
| CC2D2A | 88 | Oct 15, 2019 |
| CCBE1 | 4 | Jan 29, 2019 |
| CCDC107 | 1 | Feb 15, 2017 |
| CCDC140 | 3 | Oct 15, 2019 |
| CCDC163 | 1 | Apr 12, 2019 |
| CCDC22 | 7 | Jan 29, 2019 |
| CCDC28B | 1 | Jan 29, 2019 |
| CCDC39 | 8 | Oct 15, 2019 |
| CCDC40 | 1 | Jan 29, 2019 |
| CCDC50 | 27 | Apr 12, 2019 |
| CCDC65 | 1 | Jan 29, 2019 |
| CCDC78 | 7 | Jan 29, 2019 |
| CCDC8 | 1 | Jan 29, 2019 |
| CCDC88C | 10 | Jan 29, 2019 |
| CCM2 | 23 | Apr 12, 2019 |
| CCN6 | 1 | Oct 15, 2019 |
| CCND2 | 12 | Apr 12, 2019 |
| CCND2-AS1 | 3 | Apr 12, 2019 |
| CCNF | 1 | Mar 26, 2018 |
| CCNH | 34 | Oct 15, 2019 |
| CCNO | 1 | Jan 29, 2019 |
| CCNQ | 3 | Jan 29, 2019 |
| CCNT2-AS1 | 1 | Apr 12, 2019 |
| CCT5 | 1 | Jan 29, 2019 |
| CCZ1 | 1 | Jun 21, 2014 |
| CD164 | 8 | Apr 12, 2019 |
| CD19 | 2 | Jan 29, 2019 |
| CD247 | 3 | Jan 29, 2019 |
| CD320 | 19 | Apr 12, 2019 |
| CD36 | 2 | Jan 29, 2019 |
| CD3D | 4 | Jan 29, 2019 |
| CD3E | 3 | Mar 26, 2018 |
| CD40 | 2 | Mar 26, 2018 |
| CD40LG | 14 | Oct 15, 2019 |
| CD79A | 1 | Jan 29, 2019 |
| CD79B | 1 | Mar 26, 2018 |
| CDAN1 | 10 | Oct 15, 2019 |
| CDC14A | 18 | Apr 12, 2019 |
| CDC42 | 6 | Jan 29, 2019 |
| CDC42BPA | 1 | Jun 21, 2014 |
| CDC73 | 28 | Apr 12, 2019 |
| CDCA3 | 2 | Apr 12, 2019 |
| CDH1 | 542 | Oct 1, 2020 |
| CDH12 | 1 | Jun 21, 2014 |
| CDH15 | 12 | Jan 29, 2019 |
| CDH23 | 228 | Oct 15, 2019 |
| CDH23-AS1 | 7 | Apr 12, 2019 |
| CDH3 | 11 | Apr 12, 2019 |
| CDH8 | 1 | Jul 13, 2016 |
| CDHR1 | 9 | Apr 12, 2019 |
| CDK11A | 1 | Jan 29, 2019 |
| CDK13 | 14 | Mar 13, 2019 |
| CDK14 | 1 | Jun 21, 2014 |
| CDK16 | 1 | Jan 29, 2019 |
| CDK19 | 3 | Jul 27, 2020 |
| CDK4 | 64 | Apr 12, 2019 |
| CDK5RAP2 | 76 | Apr 12, 2019 |
| CDKL5 | 238 | Oct 15, 2019 |
| CDKN1A | 1 | Jan 29, 2019 |
| CDKN1B | 1 | Jan 29, 2019 |
| CDKN1C | 2 | Jan 29, 2019 |
| CDKN2A | 153 | Apr 12, 2019 |
| CDKN2B | 1 | Jan 29, 2019 |
| CDKN2B-AS1 | 1 | Jan 29, 2019 |
| CDON | 5 | Jan 29, 2019 |
| CDSN | 2 | Jan 29, 2019 |
| CDT1 | 2 | Jan 29, 2019 |
| CEACAM16 | 19 | Apr 12, 2019 |
| CEBPA | 2 | Jan 29, 2019 |
| CEL | 1 | Mar 26, 2018 |
| CELF5 | 2 | Dec 21, 2016 |
| CELF6 | 1 | Mar 26, 2018 |
| CELSR1 | 10 | Jan 29, 2019 |
| CELSR2 | 1 | Jan 29, 2019 |
| CELSR3 | 1 | Mar 26, 2018 |
| CENPE | 6 | Jan 29, 2019 |
| CENPF | 12 | Oct 15, 2019 |
| CENPJ | 53 | Apr 12, 2019 |
| CENPP | 1 | Jan 29, 2019 |
| CEP120 | 5 | Jan 29, 2019 |
| CEP128 | 1 | Jun 21, 2014 |
| CEP135 | 6 | Jan 29, 2019 |
| CEP152 | 60 | Oct 15, 2019 |
| CEP164 | 7 | Oct 15, 2019 |
| CEP290 | 165 | Oct 15, 2019 |
| CEP41 | 21 | Apr 12, 2019 |
| CEP83 | 3 | Jan 29, 2019 |
| CEP85L | 21 | Apr 12, 2019 |
| CERKL | 10 | Oct 15, 2019 |
| CERS1 | 10 | Jan 29, 2019 |
| CERS3 | 2 | Jan 29, 2019 |
| CERT1 | 5 | Apr 12, 2019 |
| CES1 | 1 | Apr 12, 2019 |
| CETP | 1 | Jan 29, 2019 |
| CFAP299 | 1 | Jun 21, 2014 |
| CFAP410 | 3 | Oct 15, 2019 |
| CFAP47 | 1 | Jun 21, 2014 |
| CFAP92 | 18 | Apr 12, 2019 |
| CFC1 | 10 | Jan 29, 2019 |
| CFH | 4 | Apr 12, 2019 |
| CFHR5 | 3 | Jan 29, 2019 |
| CFI | 8 | Jan 29, 2019 |
| CFL2 | 16 | Apr 12, 2019 |
| CFTR | 41 | Jun 14, 2019 |
| CFTR-AS1 | 6 | Apr 12, 2019 |
| CHAMP1 | 13 | Oct 15, 2019 |
| CHAT | 60 | Oct 15, 2019 |
| CHCHD10 | 5 | Mar 26, 2018 |
| CHCHD4 | 1 | Apr 12, 2019 |
| CHD1 | 2 | Jan 29, 2019 |
| CHD1L | 6 | Jan 29, 2019 |
| CHD2 | 346 | Oct 15, 2019 |
| CHD3 | 3 | Jan 29, 2019 |
| CHD4 | 10 | Jan 29, 2019 |
| CHD7 | 197 | Oct 15, 2019 |
| CHD8 | 44 | Nov 14, 2019 |
| CHEK2 | 511 | Jan 6, 2020 |
| CHKB | 48 | Apr 12, 2019 |
| CHKB-CPT1B | 44 | Apr 12, 2019 |
| CHKB-DT | 4 | Apr 12, 2019 |
| CHL1 | 2 | Mar 26, 2018 |
| CHM | 32 | Oct 15, 2019 |
| CHMP1A | 36 | Apr 12, 2019 |
| CHMP2B | 1 | Jan 29, 2019 |
| CHN1 | 2 | Jan 29, 2019 |
| CHODL | 1 | Jun 21, 2014 |
| CHPT1 | 1 | Apr 12, 2019 |
| CHRDL1 | 1 | Jan 29, 2019 |
| CHRM2 | 31 | Apr 12, 2019 |
| CHRNA1 | 33 | Apr 12, 2019 |
| CHRNA2 | 132 | Apr 12, 2019 |
| CHRNA3 | 2 | Jan 29, 2019 |
| CHRNA4 | 236 | Apr 12, 2019 |
| CHRNB1 | 22 | Apr 12, 2019 |
| CHRNB2 | 94 | Apr 12, 2019 |
| CHRND | 21 | Apr 12, 2019 |
| CHRNE | 49 | Oct 15, 2019 |
| CHRNG | 6 | Jan 29, 2019 |
| CHST14 | 21 | Oct 15, 2019 |
| CHST3 | 2 | Jan 29, 2019 |
| CHSY1 | 4 | Apr 12, 2019 |
| CHUK | 1 | Jan 29, 2019 |
| CIAPIN1 | 3 | Mar 26, 2018 |
| CIB2 | 10 | Oct 15, 2019 |
| CIC | 8 | Oct 15, 2019 |
| CIITA | 3 | Jan 29, 2019 |
| CISD2 | 3 | Mar 26, 2018 |
| CIT | 1 | Jan 29, 2019 |
| CITED2 | 2 | Apr 12, 2019 |
| CIZ1 | 12 | Apr 12, 2019 |
| CKAP2L | 5 | Oct 15, 2019 |
| CLCC1 | 4 | Mar 26, 2018 |
| CLCN1 | 127 | Oct 15, 2019 |
| CLCN2 | 6 | Mar 13, 2019 |
| CLCN4 | 21 | Jan 29, 2019 |
| CLCN5 | 9 | Oct 15, 2019 |
| CLCN7 | 6 | Oct 15, 2019 |
| CLCNKB | 4 | Jan 29, 2019 |
| CLDN1 | 1 | Jan 29, 2019 |
| CLDN14 | 10 | Apr 12, 2019 |
| CLDN16 | 2 | Jan 29, 2019 |
| CLIC5 | 12 | Apr 12, 2019 |
| CLN3 | 154 | Oct 15, 2019 |
| CLN5 | 98 | Oct 15, 2019 |
| CLN6 | 111 | Apr 12, 2019 |
| CLN8 | 80 | Apr 12, 2019 |
| CLP1 | 10 | Apr 12, 2019 |
| CLPB | 63 | Apr 12, 2019 |
| CLPP | 8 | Apr 12, 2019 |
| CLRN1 | 17 | Apr 12, 2019 |
| CLRN1-AS1 | 4 | Apr 12, 2019 |
| CLTC | 17 | Oct 15, 2019 |
| CLTCL1 | 4 | Jan 29, 2019 |
| CLUH | 2 | Apr 12, 2019 |
| CNBD1 | 1 | Jun 21, 2014 |
| CNGA1 | 6 | Oct 15, 2019 |
| CNGA3 | 7 | Jan 29, 2019 |
| CNGB1 | 15 | Jan 29, 2019 |
| CNGB3 | 16 | Oct 15, 2019 |
| CNKSR1 | 1 | Jan 29, 2019 |
| CNKSR2 | 12 | Oct 15, 2019 |
| CNNM2 | 7 | Oct 15, 2019 |
| CNNM4 | 1 | Jan 29, 2019 |
| CNOT1 | 1 | Jan 29, 2019 |
| CNOT7 | 1 | Apr 12, 2019 |
| CNTN1 | 88 | Apr 12, 2019 |
| CNTN2 | 9 | Jan 29, 2019 |
| CNTN4 | 4 | Jun 21, 2014 |
| CNTN5 | 1 | Jun 21, 2014 |
| CNTN6 | 2 | Jun 21, 2014 |
| CNTNAP1 | 7 | Oct 15, 2019 |
| CNTNAP2 | 398 | Oct 15, 2019 |
| COA5 | 7 | Apr 12, 2019 |
| COA6 | 15 | Apr 12, 2019 |
| COA6-AS1 | 6 | Apr 12, 2019 |
| COA8 | 25 | Apr 12, 2019 |
| COASY | 30 | Apr 12, 2019 |
| COCH | 20 | Apr 12, 2019 |
| COG1 | 6 | Apr 12, 2019 |
| COG2 | 1 | Apr 12, 2019 |
| COG4 | 56 | Nov 20, 2020 |
| COG5 | 44 | Oct 15, 2019 |
| COG6 | 36 | Apr 12, 2019 |
| COG7 | 44 | Apr 12, 2019 |
| COG8 | 33 | Apr 12, 2019 |
| COL10A1 | 4 | Oct 15, 2019 |
| COL11A1 | 238 | Oct 15, 2019 |
| COL11A2 | 209 | Oct 15, 2019 |
| COL12A1 | 37 | Mar 13, 2019 |
| COL13A1 | 5 | Jan 29, 2019 |
| COL14A1 | 1 | Jan 29, 2019 |
| COL17A1 | 16 | Oct 15, 2019 |
| COL18A1 | 13 | Jan 29, 2019 |
| COL1A1 | 270 | Oct 15, 2019 |
| COL1A2 | 197 | Oct 15, 2019 |
| COL1A2-AS1 | 1 | Mar 26, 2018 |
| COL25A1 | 2 | Jan 29, 2019 |
| COL27A1 | 1 | Jan 29, 2019 |
| COL2A1 | 295 | Oct 15, 2019 |
| COL3A1 | 316 | Oct 15, 2019 |
| COL4A1 | 66 | Oct 15, 2019 |
| COL4A2 | 45 | Apr 12, 2019 |
| COL4A2-AS1 | 10 | Apr 12, 2019 |
| COL4A2-AS2 | 6 | Apr 12, 2019 |
| COL4A3 | 60 | Apr 12, 2019 |
| COL4A4 | 76 | Oct 15, 2019 |
| COL4A5 | 36 | Apr 12, 2019 |
| COL4A6 | 42 | Apr 12, 2019 |
| COL5A1 | 773 | Oct 15, 2019 |
| COL5A2 | 351 | Apr 12, 2019 |
| COL6A1 | 231 | Oct 15, 2019 |
| COL6A2 | 251 | Apr 12, 2019 |
| COL6A3 | 367 | Apr 12, 2019 |
| COL7A1 | 131 | Oct 15, 2019 |
| COL9A1 | 147 | Apr 12, 2019 |
| COL9A2 | 103 | Oct 15, 2019 |
| COL9A3 | 48 | Apr 12, 2019 |
| COLQ | 43 | Apr 12, 2019 |
| COMETT | 1 | Apr 12, 2019 |
| COMMD10 | 2 | Jun 21, 2014 |
| COMP | 20 | Jan 29, 2019 |
| COMT | 7 | Apr 12, 2019 |
| COPA | 1 | Jan 29, 2019 |
| COPB2 | 4 | Apr 12, 2019 |
| COQ2 | 41 | Oct 15, 2019 |
| COQ4 | 31 | Apr 12, 2019 |
| COQ6 | 40 | Apr 12, 2019 |
| COQ7 | 13 | Apr 12, 2019 |
| COQ7-DT | 1 | Apr 12, 2019 |
| COQ8A | 99 | Apr 12, 2019 |
| COQ8B | 46 | Apr 12, 2019 |
| COQ9 | 35 | Apr 12, 2019 |
| CORO1A | 8 | Jan 29, 2019 |
| COX10 | 50 | Apr 12, 2019 |
| COX10-AS1 | 1 | Apr 12, 2019 |
| COX14 | 4 | Jan 29, 2019 |
| COX15 | 40 | Apr 12, 2019 |
| COX18 | 1 | Mar 26, 2018 |
| COX20 | 32 | Apr 12, 2019 |
| COX4I2 | 6 | Apr 12, 2019 |
| COX6A1 | 8 | Apr 12, 2019 |
| COX6B1 | 10 | Apr 12, 2019 |
| COX7B | 5 | Jan 29, 2019 |
| COX8A | 3 | Apr 12, 2019 |
| CP | 9 | Mar 13, 2019 |
| CPA1 | 2 | Jan 29, 2019 |
| CPA6 | 5 | Jan 29, 2019 |
| CPEB1-AS1 | 6 | Oct 15, 2019 |
| CPLANE1 | 148 | Oct 15, 2019 |
| CPNE7 | 1 | Jun 21, 2014 |
| CPOX | 10 | Jan 29, 2019 |
| CPQ | 1 | Mar 26, 2018 |
| CPS1 | 101 | Apr 12, 2019 |
| CPT1A | 58 | Apr 12, 2019 |
| CPT2 | 45 | Oct 15, 2019 |
| CR2 | 2 | Mar 13, 2019 |
| CRB1 | 17 | Mar 13, 2019 |
| CRB2 | 8 | Oct 15, 2019 |
| CRBN | 2 | Oct 15, 2019 |
| CREB3L1 | 3 | Jan 29, 2019 |
| CREBBP | 58 | Oct 15, 2019 |
| CRELD1 | 9 | Oct 15, 2019 |
| CRLF1 | 3 | Jan 29, 2019 |
| CROCC2 | 1 | Jun 21, 2014 |
| CRPPA | 64 | Oct 15, 2019 |
| CRPPA-AS1 | 20 | Apr 12, 2019 |
| CRTAP | 33 | Apr 12, 2019 |
| CRX | 6 | Jan 29, 2019 |
| CRYAA | 3 | Apr 12, 2019 |
| CRYAB | 27 | Apr 12, 2019 |
| CRYBA1 | 2 | Apr 12, 2019 |
| CRYBA4 | 9 | Apr 12, 2019 |
| CRYBB1 | 1 | Jan 29, 2019 |
| CRYBB2 | 7 | Apr 12, 2019 |
| CRYBB3 | 4 | Apr 12, 2019 |
| CRYBG1 | 1 | Jun 21, 2014 |
| CRYGB | 2 | Apr 12, 2019 |
| CRYGC | 3 | Mar 13, 2019 |
| CRYGD | 3 | Apr 12, 2019 |
| CRYM | 11 | Apr 12, 2019 |
| CSF1R | 5 | Jan 29, 2019 |
| CSF3R | 3 | Jan 29, 2019 |
| CSMD1 | 5 | Jun 21, 2014 |
| CSMD3 | 1 | Jun 21, 2014 |
| CSNK2A1 | 13 | Oct 15, 2019 |
| CSNK2B | 4 | Jan 29, 2019 |
| CSPP1 | 66 | Oct 15, 2019 |
| CSRP3 | 62 | Apr 12, 2019 |
| CSRP3-AS1 | 6 | Mar 26, 2018 |
| CSTA | 2 | Oct 15, 2019 |
| CSTB | 36 | Apr 12, 2019 |
| CTBP1 | 3 | Jan 29, 2019 |
| CTBP1-AS | 1 | Jan 29, 2019 |
| CTC1 | 6 | Jan 29, 2019 |
| CTCF | 12 | Jan 29, 2019 |
| CTDP1 | 7 | Apr 12, 2019 |
| CTLA4 | 3 | Jan 29, 2019 |
| CTNNA3 | 15 | Mar 26, 2018 |
| CTNNB1 | 36 | Oct 15, 2019 |
| CTNND1 | 1 | Jan 29, 2019 |
| CTNND2 | 11 | Oct 15, 2019 |
| CTNS | 9 | Apr 12, 2019 |
| CTPS1 | 2 | Jan 29, 2019 |
| CTRC | 5 | Jan 29, 2019 |
| CTSA | 10 | Oct 15, 2019 |
| CTSB | 1 | Mar 26, 2018 |
| CTSC | 7 | Jan 29, 2019 |
| CTSD | 141 | Apr 12, 2019 |
| CTSF | 5 | Apr 12, 2019 |
| CTSK | 1 | Jan 29, 2019 |
| CUBN | 21 | Apr 12, 2019 |
| CUL3 | 3 | Jan 29, 2019 |
| CUL4B | 37 | Oct 15, 2019 |
| CUL7 | 6 | Jan 29, 2019 |
| CWF19L1 | 5 | Jan 29, 2019 |
| CXCR4 | 2 | Jan 29, 2019 |
| CYB561D2 | 1 | Jan 29, 2019 |
| CYB5R3 | 3 | Jan 29, 2019 |
| CYBA | 4 | Jan 29, 2019 |
| CYBB | 45 | Oct 15, 2019 |
| CYC1 | 14 | Apr 12, 2019 |
| CYLD | 3 | Oct 15, 2019 |
| CYP11A1 | 4 | Jan 29, 2019 |
| CYP11B1 | 3 | Jan 29, 2019 |
| CYP11B2 | 1 | Mar 26, 2018 |
| CYP17A1 | 7 | Jan 29, 2019 |
| CYP17A1-AS1 | 1 | Jan 29, 2019 |
| CYP19A1 | 8 | Jan 29, 2019 |
| CYP1A2 | 2 | Apr 12, 2019 |
| CYP1B1 | 11 | Oct 15, 2019 |
| CYP21A2 | 1 | Jan 29, 2019 |
| CYP26B1 | 2 | Jan 29, 2019 |
| CYP27A1 | 16 | Oct 15, 2019 |
| CYP27B1 | 6 | Jan 29, 2019 |
| CYP2B6 | 1 | Mar 26, 2018 |
| CYP2C19 | 3 | Apr 12, 2019 |
| CYP2C9 | 2 | Apr 12, 2019 |
| CYP2D6 | 21 | Oct 29, 2020 |
| CYP2R1 | 3 | Jan 29, 2019 |
| CYP2U1 | 16 | Apr 12, 2019 |
| CYP2U1-AS1 | 5 | Apr 12, 2019 |
| CYP3A4 | 1 | Apr 12, 2019 |
| CYP3A5 | 1 | Apr 12, 2019 |
| CYP4F22 | 12 | Oct 15, 2019 |
| CYP4V2 | 1 | Jan 29, 2019 |
| CYP51A1 | 1 | Apr 12, 2019 |
| CYP7B1 | 22 | Apr 12, 2019 |
| CZ1P-ASNS | 13 | Oct 15, 2019 |
| D2HGDH | 2 | Jan 29, 2019 |
| DAG1 | 45 | Oct 15, 2019 |
| DARS1 | 23 | Apr 12, 2019 |
| DARS1-AS1 | 1 | Mar 26, 2018 |
| DARS2 | 56 | Apr 12, 2019 |
| DBH | 2 | Jan 29, 2019 |
| DBNL | 20 | Apr 12, 2019 |
| DBT | 26 | Apr 12, 2019 |
| DCAF17 | 1 | Jan 29, 2019 |
| DCAF8 | 1 | Dec 21, 2016 |
| DCC | 4 | Jan 29, 2019 |
| DCDC1 | 2 | Jul 13, 2016 |
| DCDC2 | 18 | Apr 12, 2019 |
| DCHS1 | 6 | Jan 29, 2019 |
| DCLRE1B | 2 | Mar 26, 2018 |
| DCLRE1C | 12 | Jan 29, 2019 |
| DCPS | 2 | Jan 29, 2019 |
| DCTN1 | 8 | Jan 29, 2019 |
| DCX | 28 | Apr 12, 2019 |
| DDC | 6 | Jan 29, 2019 |
| DDHD1 | 37 | Apr 12, 2019 |
| DDHD2 | 27 | Apr 12, 2019 |
| DDOST | 35 | Apr 12, 2019 |
| DDR2 | 2 | Oct 15, 2019 |
| DDX11 | 3 | Jan 29, 2019 |
| DDX3X | 74 | Oct 15, 2019 |
| DDX41 | 7 | Oct 15, 2019 |
| DDX53 | 2 | Jan 29, 2019 |
| DDX58 | 4 | Jan 29, 2019 |
| DDX59 | 1 | Jan 29, 2019 |
| DEAF1 | 13 | Jan 29, 2019 |
| DENND11 | 1 | May 15, 2018 |
| DENND5A | 3 | Oct 15, 2019 |
| DEPDC5 | 52 | Nov 19, 2019 |
| DES | 121 | Apr 12, 2019 |
| DES-LCR | 6 | Apr 12, 2019 |
| DGAT1 | 6 | Jan 29, 2019 |
| DGKB | 1 | Jun 21, 2014 |
| DGKQ | 1 | Apr 12, 2019 |
| DGUOK | 43 | Apr 12, 2019 |
| DGUOK-AS1 | 6 | Jan 29, 2019 |
| DHCR7 | 40 | Apr 12, 2019 |
| DHDDS | 3 | Apr 12, 2019 |
| DHFR | 1 | Jan 29, 2019 |
| DHODH | 1 | Jan 29, 2019 |
| DHPS | 4 | Aug 30, 2018 |
| DHRSX | 1 | Jun 21, 2014 |
| DHTKD1 | 7 | Jan 29, 2019 |
| DIABLO | 9 | Apr 12, 2019 |
| DIAPH1 | 21 | Apr 12, 2019 |
| DIAPH2 | 2 | Jun 21, 2014 |
| DIAPH3 | 31 | Apr 12, 2019 |
| DIAPH3-AS1 | 1 | Mar 26, 2018 |
| DICER1 | 66 | Apr 12, 2019 |
| DIPK1A | 7 | Oct 15, 2019 |
| DIPK2B | 1 | Mar 26, 2018 |
| DIS3L2 | 2 | Jan 29, 2019 |
| DISP1 | 13 | Jan 29, 2019 |
| DKC1 | 10 | Jan 29, 2019 |
| DLAT | 46 | Apr 12, 2019 |
| DLC1 | 9 | Jan 29, 2019 |
| DLD | 51 | Apr 12, 2019 |
| DLG2 | 6 | Apr 12, 2019 |
| DLG3 | 9 | Oct 15, 2019 |
| DLG3-AS1 | 2 | Jan 29, 2019 |
| DLG4 | 10 | Oct 15, 2019 |
| DLGAP1 | 1 | Jun 21, 2014 |
| DLL1 | 1 | Jan 29, 2019 |
| DLL3 | 28 | Apr 12, 2019 |
| DM1-AS | 8 | Apr 12, 2019 |
| DMD | 698 | Jun 26, 2020 |
| DMGDH | 41 | Apr 12, 2019 |
| DMP1 | 3 | Jan 29, 2019 |
| DNA2 | 84 | Oct 15, 2019 |
| DNAAF1 | 3 | Jan 29, 2019 |
| DNAAF11 | 1 | Jan 29, 2019 |
| DNAAF2 | 2 | Mar 26, 2018 |
| DNAAF3 | 6 | Mar 26, 2018 |
| DNAAF4 | 2 | Oct 15, 2019 |
| DNAAF4-CCPG1 | 2 | Oct 15, 2019 |
| DNAH1 | 1 | Mar 26, 2018 |
| DNAH11 | 17 | Oct 15, 2019 |
| DNAH5 | 29 | Oct 15, 2019 |
| DNAH6 | 2 | Apr 12, 2019 |
| DNAH7 | 1 | Mar 26, 2018 |
| DNAI1 | 1 | Jan 29, 2019 |
| DNAJB2 | 33 | Apr 12, 2019 |
| DNAJB6 | 45 | Apr 12, 2019 |
| DNAJC19 | 14 | Apr 12, 2019 |
| DNAJC21 | 2 | Jan 29, 2019 |
| DNAJC3 | 1 | Jan 29, 2019 |
| DNAJC5 | 60 | Apr 12, 2019 |
| DNAJC9-AS1 | 20 | Apr 12, 2019 |
| DNASE1 | 2 | Jan 29, 2019 |
| DNASE1L1 | 5 | Apr 12, 2019 |
| DNHD1 | 2 | Apr 12, 2019 |
| DNM1 | 125 | Apr 12, 2019 |
| DNM1L | 87 | Apr 12, 2019 |
| DNM2 | 153 | Apr 12, 2019 |
| DNMT1 | 119 | Apr 12, 2019 |
| DNMT3A | 25 | Oct 15, 2019 |
| DNMT3B | 9 | Jan 29, 2019 |
| DOCK2 | 1 | Jan 29, 2019 |
| DOCK3 | 1 | Apr 12, 2019 |
| DOCK4 | 1 | Jun 21, 2014 |
| DOCK6 | 3 | Mar 13, 2019 |
| DOCK8 | 229 | Oct 15, 2019 |
| DOCK8-AS1 | 9 | Apr 12, 2019 |
| DOK7 | 71 | Oct 15, 2019 |
| DOLK | 38 | Apr 12, 2019 |
| DOP1A | 2 | Apr 12, 2019 |
| DPAGT1 | 20 | Apr 12, 2019 |
| DPH1 | 2 | Oct 15, 2019 |
| DPM1 | 23 | Apr 12, 2019 |
| DPM2 | 12 | Apr 12, 2019 |
| DPM3 | 8 | Apr 12, 2019 |
| DPP3 | 1 | Jan 29, 2019 |
| DPP6 | 3 | Jun 21, 2014 |
| DPYD | 13 | Apr 12, 2019 |
| DPYD-AS1 | 3 | Apr 12, 2019 |
| DPYS | 2 | Jan 29, 2019 |
| DRAM2 | 3 | Apr 12, 2019 |
| DRC1 | 1 | Jan 29, 2019 |
| DRD1 | 2 | Mar 26, 2018 |
| DRD2 | 3 | Mar 26, 2018 |
| DRD3 | 3 | Mar 26, 2018 |
| DRD4 | 1 | Jan 29, 2019 |
| DSC2 | 164 | Oct 15, 2019 |
| DSCAS | 12 | Apr 12, 2019 |
| DSE | 49 | Apr 12, 2019 |
| DSEL | 1 | Jan 29, 2019 |
| DSG1 | 3 | Jan 29, 2019 |
| DSG1-AS1 | 1 | Mar 26, 2018 |
| DSG2 | 215 | Oct 15, 2019 |
| DSG2-AS1 | 62 | Jan 29, 2019 |
| DSP | 472 | Oct 15, 2019 |
| DSPP | 4 | Oct 15, 2019 |
| DST | 14 | Jan 29, 2019 |
| DSTYK | 1 | Mar 26, 2018 |
| DTNA | 146 | Apr 12, 2019 |
| DTNBP1 | 1 | Jan 29, 2019 |
| DUOX2 | 27 | Oct 15, 2019 |
| DUOXA1 | 1 | Jan 29, 2019 |
| DUOXA2 | 5 | Jan 29, 2019 |
| DUS4L | 5 | Oct 15, 2019 |
| DUS4L-BCAP29 | 5 | Oct 15, 2019 |
| DUSP29 | 36 | Oct 15, 2019 |
| DVL1 | 6 | Apr 12, 2019 |
| DVL2 | 1 | Mar 26, 2018 |
| DVL3 | 2 | Oct 15, 2019 |
| DYM | 2 | Jan 29, 2019 |
| DYNC1H1 | 447 | Apr 12, 2019 |
| DYNC2H1 | 255 | Apr 12, 2019 |
| DYNC2I1 | 7 | Mar 26, 2018 |
| DYNC2I2 | 5 | Jan 29, 2019 |
| DYNC2LI1 | 2 | Oct 15, 2019 |
| DYRK1A | 161 | Oct 15, 2019 |
| DYSF | 324 | Oct 15, 2019 |
| EARS2 | 37 | Apr 12, 2019 |
| EBF3 | 25 | Oct 15, 2019 |
| EBP | 10 | Apr 12, 2019 |
| ECEL1 | 6 | Oct 15, 2019 |
| ECHS1 | 50 | Apr 12, 2019 |
| EDA | 38 | Oct 15, 2019 |
| EDA2R | 1 | Jan 29, 2019 |
| EDAR | 14 | Jan 29, 2019 |
| EDARADD | 4 | Jan 29, 2019 |
| EDN1 | 2 | Apr 12, 2019 |
| EDN3 | 10 | Apr 12, 2019 |
| EDNRB | 13 | Apr 12, 2019 |
| EDNRB-AS1 | 7 | Apr 12, 2019 |
| EEF1A2 | 111 | Apr 12, 2019 |
| EEF2KMT | 4 | Jan 29, 2019 |
| EFEMP1 | 1 | Jan 29, 2019 |
| EFEMP2 | 34 | Apr 12, 2019 |
| EFHC1 | 69 | Jan 29, 2019 |
| EFHC2 | 1 | Jun 21, 2014 |
| EFNB1 | 9 | Oct 15, 2019 |
| EFTUD2 | 30 | Jan 16, 2020 |
| EGF | 1 | Jan 29, 2019 |
| EGFLAM | 1 | Jun 21, 2014 |
| EGR2 | 31 | Apr 12, 2019 |
| EGR3 | 1 | Jan 29, 2019 |
| EHMT1 | 48 | Oct 15, 2019 |
| EIF2AK4 | 59 | Apr 12, 2019 |
| EIF2B1 | 1 | Jan 29, 2019 |
| EIF2B2 | 4 | Jan 29, 2019 |
| EIF2B3 | 2 | Jan 29, 2019 |
| EIF2B4 | 2 | Jan 29, 2019 |
| EIF2B5 | 10 | Jan 29, 2019 |
| EIF2S3 | 4 | Jan 29, 2019 |
| EIF5A | 1 | Mar 26, 2018 |
| ELAC2 | 87 | Apr 12, 2019 |
| ELANE | 74 | Apr 12, 2019 |
| ELMOD3 | 11 | Apr 12, 2019 |
| ELN | 119 | Oct 15, 2019 |
| ELOVL4 | 16 | Apr 12, 2019 |
| ELP1 | 138 | Apr 12, 2019 |
| ELP2 | 3 | Jan 29, 2019 |
| ELP4 | 6 | Oct 15, 2019 |
| EMC1 | 3 | Oct 15, 2019 |
| EMC1-AS1 | 3 | Oct 15, 2019 |
| EMD | 54 | Apr 12, 2019 |
| EME2 | 2 | Apr 12, 2019 |
| EMP2 | 1 | Jan 29, 2019 |
| ENAM | 2 | Jan 29, 2019 |
| ENDOV | 1 | Apr 12, 2019 |
| ENG | 87 | Oct 15, 2019 |
| ENO3 | 31 | Apr 12, 2019 |
| ENPP1 | 1 | Jan 29, 2019 |
| ENTPD5 | 27 | Apr 12, 2019 |
| EOGT | 2 | Apr 12, 2019 |
| EOMES | 3 | Jan 29, 2019 |
| EP300 | 30 | Jun 16, 2020 |
| EPB41 | 2 | Mar 13, 2019 |
| EPCAM | 12 | Jan 29, 2019 |
| EPG5 | 31 | Apr 12, 2019 |
| EPHA2 | 13 | Apr 12, 2019 |
| EPHA6 | 1 | Jun 21, 2014 |
| EPHB2 | 1 | Jan 29, 2019 |
| EPHB4 | 1 | Mar 13, 2019 |
| EPM2A | 83 | Apr 12, 2019 |
| EPOR | 2 | Jan 29, 2019 |
| EPS8 | 23 | Apr 12, 2019 |
| ERBB4 | 1 | Jun 21, 2014 |
| ERCC1 | 1 | Jan 29, 2019 |
| ERCC2 | 14 | Oct 15, 2019 |
| ERCC3 | 3 | Jan 29, 2019 |
| ERCC6 | 19 | Jan 29, 2019 |
| ERCC6-PGBD3 | 2 | Jan 29, 2019 |
| ERCC6L | 1 | Dec 21, 2016 |
| ERCC6L2 | 1 | Jan 29, 2019 |
| ERCC8 | 10 | Oct 15, 2019 |
| ERCC8-AS1 | 2 | Oct 15, 2019 |
| ERF | 6 | Oct 15, 2019 |
| ERLIN2 | 10 | Oct 15, 2019 |
| ERMARD | 51 | Apr 12, 2019 |
| ESCO2 | 6 | Jan 29, 2019 |
| ESF1 | 1 | Apr 12, 2019 |
| ESPN | 34 | Apr 12, 2019 |
| ESR1 | 4 | Mar 26, 2018 |
| ESRRB | 16 | Apr 12, 2019 |
| ETFA | 40 | Apr 12, 2019 |
| ETFB | 51 | Nov 14, 2019 |
| ETFDH | 65 | Apr 12, 2019 |
| ETHE1 | 25 | Apr 12, 2019 |
| ETV6 | 4 | Jan 29, 2019 |
| EVC | 102 | Apr 12, 2019 |
| EVC2 | 129 | Oct 15, 2019 |
| EXOC4 | 2 | Jun 21, 2014 |
| EXOC6B | 2 | Jan 29, 2019 |
| EXOSC3 | 23 | Apr 12, 2019 |
| EXOSC8 | 2 | Mar 26, 2018 |
| EXPH5 | 1 | Nov 28, 2017 |
| EXT1 | 58 | Oct 15, 2019 |
| EXT2 | 28 | Oct 15, 2019 |
| EYA1 | 18 | Apr 12, 2019 |
| EYA4 | 13 | Oct 15, 2019 |
| EYS | 51 | Oct 15, 2019 |
| EZH2 | 54 | Apr 12, 2019 |
| F10 | 2 | Jan 29, 2019 |
| F11 | 7 | Mar 13, 2019 |
| F11-AS1 | 1 | Jan 29, 2019 |
| F12 | 2 | Jan 29, 2019 |
| F5 | 6 | Apr 12, 2019 |
| F7 | 4 | Jan 29, 2019 |
| F8 | 5 | Jan 29, 2019 |
| F9 | 1 | Jan 29, 2019 |
| FA2H | 22 | Oct 15, 2019 |
| FAH | 44 | Apr 12, 2019 |
| FAM111A | 2 | Jan 29, 2019 |
| FAM111B | 1 | Jan 29, 2019 |
| FAM126A | 6 | Apr 12, 2019 |
| FAM155A | 1 | Jun 21, 2014 |
| FAM161A | 3 | Jan 29, 2019 |
| FAM161B | 5 | Mar 26, 2018 |
| FAM189A2 | 18 | Apr 12, 2019 |
| FAM20A | 4 | Mar 13, 2019 |
| FAM20C | 2 | Jan 29, 2019 |
| FAM50A | 4 | May 9, 2020 |
| FAM83H | 1 | Mar 26, 2018 |
| FAM9C | 1 | Mar 26, 2018 |
| FAN1 | 4 | Oct 15, 2019 |
| FANCA | 22 | Oct 15, 2019 |
| FANCB | 2 | Jan 29, 2019 |
| FANCC | 321 | Apr 12, 2019 |
| FANCD2 | 5 | Jan 29, 2019 |
| FANCE | 1 | Jan 29, 2019 |
| FANCF | 3 | Jan 29, 2019 |
| FANCG | 1 | Mar 26, 2018 |
| FANCI | 24 | Jul 22, 2020 |
| FANCL | 5 | Mar 13, 2019 |
| FANCM | 7 | Oct 15, 2019 |
| FAR1 | 3 | Jan 29, 2019 |
| FARS2 | 47 | Oct 15, 2019 |
| FARSB | 3 | Oct 15, 2019 |
| FAS | 11 | Apr 12, 2019 |
| FASN | 2 | Mar 26, 2018 |
| FASTKD2 | 59 | Apr 12, 2019 |
| FAT1 | 1 | Jan 29, 2019 |
| FAT3 | 1 | Jun 21, 2014 |
| FAT4 | 171 | Apr 12, 2019 |
| FBLN1 | 1 | Mar 26, 2018 |
| FBLN5 | 49 | Apr 12, 2019 |
| FBN1 | 861 | Oct 15, 2019 |
| FBN2 | 598 | Apr 12, 2019 |
| FBN3 | 2 | Apr 12, 2019 |
| FBP1 | 35 | Jan 29, 2019 |
| FBXL3 | 50 | Oct 15, 2019 |
| FBXL4 | 32 | Apr 12, 2019 |
| FBXL7 | 1 | Jun 21, 2014 |
| FBXO11 | 2 | Mar 13, 2019 |
| FBXO30-DT | 42 | Apr 12, 2019 |
| FBXO38 | 1 | Mar 26, 2018 |
| FBXO7 | 2 | Jan 29, 2019 |
| FDX2 | 18 | Apr 12, 2019 |
| FDXR | 3 | Oct 15, 2019 |
| FERMT1 | 6 | Jan 29, 2019 |
| FGA | 2 | Oct 15, 2019 |
| FGD1 | 7 | Mar 13, 2019 |
| FGD4 | 60 | Apr 12, 2019 |
| FGF10 | 3 | Mar 13, 2019 |
| FGF12 | 2 | Jan 29, 2019 |
| FGF16 | 1 | Oct 15, 2019 |
| FGF23 | 7 | Jan 29, 2019 |
| FGF3 | 2 | Jan 29, 2019 |
| FGF8 | 5 | Oct 15, 2019 |
| FGFR1 | 47 | Oct 15, 2019 |
| FGFR2 | 57 | Apr 12, 2019 |
| FGFR3 | 78 | Apr 12, 2019 |
| FGG | 3 | Oct 15, 2019 |
| FGGY | 1 | Jun 21, 2014 |
| FH | 157 | Oct 15, 2019 |
| FHIT | 2 | Jun 21, 2014 |
| FHL1 | 51 | Apr 12, 2019 |
| FHL2 | 3 | Apr 12, 2019 |
| FIBP | 2 | Jan 29, 2019 |
| FIG4 | 75 | Oct 15, 2019 |
| FIGLA | 2 | Jun 10, 2014 |
| FKBP10 | 27 | Apr 12, 2019 |
| FKBP14 | 21 | Apr 12, 2019 |
| FKBP14-AS1 | 15 | Apr 12, 2019 |
| FKRP | 73 | Oct 15, 2019 |
| FKTN | 88 | Apr 12, 2019 |
| FLAD1 | 20 | Oct 15, 2019 |
| FLCN | 133 | Apr 12, 2019 |
| FLG | 95 | Oct 15, 2019 |
| FLG-AS1 | 13 | Oct 15, 2019 |
| FLI1 | 1 | Jan 29, 2019 |
| FLNA | 426 | Oct 15, 2019 |
| FLNB | 154 | Apr 12, 2019 |
| FLNB-AS1 | 13 | Apr 12, 2019 |
| FLNC | 252 | Oct 15, 2019 |
| FLNC-AS1 | 85 | Apr 12, 2019 |
| FLT3 | 1 | Mar 26, 2018 |
| FLT4 | 1 | Dec 21, 2016 |
| FLVCR1 | 11 | Mar 13, 2019 |
| FLVCR2 | 1 | Jan 29, 2019 |
| FMN2 | 3 | Jan 29, 2019 |
| FMO3 | 2 | Jan 29, 2019 |
| FMR1 | 4 | Jan 29, 2019 |
| FN1 | 3 | Jan 29, 2019 |
| FOLR1 | 47 | Apr 12, 2019 |
| FOXA2 | 1 | Jan 29, 2019 |
| FOXC1 | 11 | Oct 15, 2019 |
| FOXC2 | 8 | Oct 15, 2019 |
| FOXC2-AS1 | 2 | Oct 15, 2019 |
| FOXD1 | 1 | Mar 26, 2018 |
| FOXD2 | 1 | Apr 12, 2019 |
| FOXE3 | 6 | Jan 29, 2019 |
| FOXF1 | 1 | Jan 29, 2019 |
| FOXG1 | 156 | Oct 15, 2019 |
| FOXH1 | 9 | Jan 29, 2019 |
| FOXL2 | 4 | Mar 13, 2019 |
| FOXN1 | 22 | Jan 29, 2019 |
| FOXP1 | 28 | Oct 15, 2019 |
| FOXP2 | 7 | Mar 13, 2019 |
| FOXP3 | 6 | Jan 29, 2019 |
| FOXRED1 | 51 | Apr 12, 2019 |
| FRAS1 | 27 | Oct 15, 2019 |
| FREM1 | 4 | Jan 29, 2019 |
| FREM2 | 9 | Oct 15, 2019 |
| FREM3 | 1 | Jan 29, 2019 |
| FRMD7 | 3 | Jan 29, 2019 |
| FRRS1L | 1 | Jan 29, 2019 |
| FRYL | 1 | Jun 21, 2014 |
| FSHB | 1 | Jan 29, 2019 |
| FSHR | 5 | Jan 29, 2019 |
| FTCD | 8 | Jan 29, 2019 |
| FTL | 8 | Apr 12, 2019 |
| FTSJ1 | 1 | Mar 26, 2018 |
| FUCA1 | 15 | Apr 12, 2019 |
| FUS | 11 | Oct 15, 2019 |
| FUT8 | 2 | Apr 12, 2019 |
| FUT9 | 2 | Jun 21, 2014 |
| FYCO1 | 19 | Oct 15, 2019 |
| FZD4 | 10 | Oct 15, 2019 |
| FZD6 | 1 | Jan 29, 2019 |
| G6PC1 | 25 | Jan 29, 2019 |
| G6PC3 | 1 | Jan 29, 2019 |
| G6PD | 5 | Jan 29, 2019 |
| GAA | 186 | Oct 15, 2019 |
| GAB1 | 1 | Jun 21, 2014 |
| GABBR2 | 1 | Jan 29, 2019 |
| GABRA1 | 100 | Apr 12, 2019 |
| GABRA2 | 1 | Nov 28, 2017 |
| GABRA3 | 1 | Mar 26, 2018 |
| GABRA6 | 1 | Jan 29, 2019 |
| GABRB2 | 92 | Apr 12, 2019 |
| GABRB3 | 77 | Apr 12, 2019 |
| GABRG2 | 97 | Apr 12, 2019 |
| GALC | 61 | Apr 12, 2019 |
| GALE | 1 | Mar 26, 2018 |
| GALK1 | 5 | Oct 15, 2019 |
| GALNS | 41 | Apr 12, 2019 |
| GALNT3 | 1 | Jan 29, 2019 |
| GALT | 23 | Jan 29, 2019 |
| GAMT | 105 | Apr 12, 2019 |
| GAN | 55 | Oct 15, 2019 |
| GANAB | 1 | Mar 13, 2019 |
| GAREM2 | 46 | Apr 12, 2019 |
| GARS1 | 99 | Apr 12, 2019 |
| GATA1 | 5 | Jan 29, 2019 |
| GATA2 | 1 | Jan 29, 2019 |
| GATA3 | 18 | Oct 15, 2019 |
| GATA4 | 7 | Oct 15, 2019 |
| GATA5 | 3 | Jan 29, 2019 |
| GATA6 | 5 | Oct 15, 2019 |
| GATAD1 | 34 | Oct 15, 2019 |
| GATAD2B | 22 | Oct 15, 2019 |
| GATC | 1 | Jan 29, 2019 |
| GATM | 71 | Apr 12, 2019 |
| GBA | 12 | Jan 29, 2019 |
| GBA2 | 21 | Apr 12, 2019 |
| GBE1 | 38 | Jan 29, 2019 |
| GCDH | 51 | Oct 15, 2019 |
| GCH1 | 17 | Jan 29, 2019 |
| GCK | 91 | Oct 15, 2019 |
| GCKR | 2 | Jan 29, 2019 |
| GCLC | 1 | Jan 29, 2019 |
| GCM2 | 2 | Feb 6, 2019 |
| GCNT2 | 1 | Jan 29, 2019 |
| GCSH | 2 | Jan 29, 2019 |
| GDAP1 | 50 | Apr 12, 2019 |
| GDF1 | 10 | Jan 29, 2019 |
| GDF2 | 12 | Apr 12, 2019 |
| GDF3 | 1 | Jan 29, 2019 |
| GDF5 | 6 | Jun 16, 2020 |
| GDF5-AS1 | 3 | Oct 15, 2019 |
| GDF6 | 3 | Apr 12, 2019 |
| GDF9 | 5 | Apr 12, 2019 |
| GDI1 | 4 | Jan 29, 2019 |
| GDNF | 1 | Mar 26, 2018 |
| GDPD3 | 1 | Mar 26, 2018 |
| GEMIN5 | 2 | Jan 29, 2019 |
| GFAP | 18 | Jan 29, 2019 |
| GFER | 23 | Apr 12, 2019 |
| GFM1 | 61 | Apr 12, 2019 |
| GFM2 | 54 | Apr 12, 2019 |
| GFPT1 | 24 | Apr 12, 2019 |
| GGA3 | 8 | Apr 12, 2019 |
| GH-LCR | 116 | Apr 12, 2019 |
| GH1 | 4 | Jan 29, 2019 |
| GHR | 6 | Oct 15, 2019 |
| GHRHR | 4 | Jan 29, 2019 |
| GHSR | 5 | Oct 15, 2019 |
| GIGYF2 | 1 | Jan 29, 2019 |
| GIPC3 | 12 | Apr 12, 2019 |
| GJA1 | 12 | Apr 12, 2019 |
| GJA3 | 2 | Apr 12, 2019 |
| GJA5 | 1 | Jan 29, 2019 |
| GJA8 | 3 | Apr 12, 2019 |
| GJB1 | 64 | Oct 15, 2019 |
| GJB2 | 54 | Oct 15, 2019 |
| GJB3 | 16 | Apr 12, 2019 |
| GJB4 | 2 | Jan 29, 2019 |
| GJB6 | 10 | Apr 12, 2019 |
| GJC2 | 19 | Oct 15, 2019 |
| GK | 4 | Oct 15, 2019 |
| GK-AS1 | 1 | Jan 29, 2019 |
| GLA | 93 | Oct 15, 2019 |
| GLB1 | 24 | Oct 15, 2019 |
| GLDC | 11 | Oct 15, 2019 |
| GLDN | 4 | Jan 29, 2019 |
| GLE1 | 5 | Jan 29, 2019 |
| GLG1 | 1 | Mar 26, 2018 |
| GLI2 | 17 | Oct 15, 2019 |
| GLI3 | 72 | Oct 15, 2019 |
| GLIS3 | 1 | Jun 21, 2014 |
| GLMN | 3 | Oct 15, 2019 |
| GLRA1 | 7 | Mar 13, 2019 |
| GLRX5 | 15 | Apr 12, 2019 |
| GLS2 | 1 | Apr 12, 2019 |
| GLUD1 | 8 | Apr 12, 2019 |
| GLUL | 3 | Jan 29, 2019 |
| GMPPA | 28 | Apr 12, 2019 |
| GMPPB | 38 | Apr 12, 2019 |
| GNA11 | 2 | Jan 29, 2019 |
| GNAI1 | 1 | Jan 29, 2019 |
| GNAI3 | 1 | Nov 28, 2017 |
| GNAL | 1 | Jan 29, 2019 |
| GNAO1 | 17 | Jan 29, 2019 |
| GNAQ | 1 | Jun 21, 2014 |
| GNAS | 22 | Oct 15, 2019 |
| GNAS-AS1 | 1 | Jan 29, 2019 |
| GNAT2 | 2 | Oct 15, 2019 |
| GNB1 | 9 | Apr 28, 2020 |
| GNB1L | 3 | Jan 29, 2019 |
| GNB3 | 2 | Apr 12, 2019 |
| GNB5 | 7 | Oct 15, 2019 |
| GNE | 54 | Apr 12, 2019 |
| GNG3 | 1 | Apr 12, 2019 |
| GNPAT | 28 | Apr 12, 2019 |
| GNPTAB | 23 | Oct 15, 2019 |
| GNPTG | 3 | Apr 12, 2019 |
| GNRHR | 9 | Jan 29, 2019 |
| GNS | 7 | Jan 29, 2019 |
| GOLT1B | 5 | Apr 12, 2019 |
| GORAB | 1 | Dec 21, 2016 |
| GOSR2 | 52 | Nov 4, 2020 |
| GP1BA | 1 | Jan 29, 2019 |
| GPAA1 | 1 | Jan 29, 2019 |
| GPC3 | 20 | Jan 29, 2019 |
| GPC5 | 4 | Jun 21, 2014 |
| GPC6 | 1 | Jun 21, 2014 |
| GPD1 | 1 | Jan 29, 2019 |
| GPD1L | 56 | Apr 12, 2019 |
| GPD2 | 3 | Jan 29, 2019 |
| GPHN | 5 | Oct 15, 2019 |
| GPM6B | 1 | Mar 26, 2018 |
| GPR143 | 5 | Oct 15, 2019 |
| GPR179 | 7 | Oct 15, 2019 |
| GPSM2 | 41 | Oct 15, 2019 |
| GPT2 | 1 | Jan 29, 2019 |
| GPX4 | 1 | Jan 29, 2019 |
| GRAMD1B | 1 | Jun 21, 2014 |
| GRHL2 | 14 | Apr 12, 2019 |
| GRHPR | 4 | Oct 15, 2019 |
| GRIA2 | 1 | Apr 12, 2019 |
| GRIA3 | 11 | Jan 29, 2019 |
| GRID2 | 5 | Mar 13, 2019 |
| GRIK4 | 1 | Mar 26, 2018 |
| GRIN1 | 134 | Apr 12, 2019 |
| GRIN2A | 241 | Oct 15, 2019 |
| GRIN2B | 233 | Oct 15, 2019 |
| GRIP1 | 6 | Mar 13, 2019 |
| GRK3 | 1 | Jun 21, 2014 |
| GRK4 | 1 | Jun 21, 2014 |
| GRM6 | 4 | Mar 13, 2019 |
| GRN | 8 | Oct 15, 2019 |
| GRXCR1 | 7 | Apr 12, 2019 |
| GSDME | 22 | Apr 12, 2019 |
| GSN | 3 | Jan 29, 2019 |
| GSS | 20 | Apr 12, 2019 |
| GTF2I | 1 | Jan 29, 2019 |
| GTPBP3 | 41 | Apr 12, 2019 |
| GUCA1A | 4 | Jan 29, 2019 |
| GUCA1B | 1 | Jan 29, 2019 |
| GUCY1A1 | 1 | Dec 21, 2016 |
| GUCY2C | 2 | Jan 29, 2019 |
| GUCY2D | 7 | Apr 12, 2019 |
| GUSB | 2 | Jan 29, 2019 |
| GYG1 | 28 | Apr 12, 2019 |
| GYG2 | 45 | Apr 12, 2019 |
| GYS1 | 55 | Apr 12, 2019 |
| GYS2 | 53 | Oct 15, 2019 |
| H1-4 | 9 | Oct 15, 2019 |
| H3-3A | 2 | Jan 29, 2019 |
| HACE1 | 5 | Jan 29, 2019 |
| HADH | 3 | Jan 29, 2019 |
| HADHA | 81 | Apr 12, 2019 |
| HADHB | 43 | Apr 12, 2019 |
| HAMP | 1 | Mar 26, 2018 |
| HARS1 | 13 | Apr 12, 2019 |
| HARS2 | 30 | Apr 12, 2019 |
| HAX1 | 6 | Jan 29, 2019 |
| HBA-LCR | 8 | Oct 15, 2019 |
| HBA2 | 1 | Jan 29, 2019 |
| HBB | 13 | Oct 15, 2019 |
| HBD | 1 | Nov 28, 2017 |
| HBG2 | 1 | Jan 29, 2019 |
| HCFC1 | 116 | Apr 12, 2019 |
| HCN1 | 3 | Jan 29, 2019 |
| HCN2 | 4 | Jan 29, 2019 |
| HCN4 | 138 | Apr 12, 2019 |
| HDAC4 | 11 | Jan 29, 2019 |
| HDAC8 | 16 | Apr 12, 2019 |
| HDAC9 | 1 | Jun 21, 2014 |
| HECW2 | 7 | Jan 29, 2019 |
| HEPACAM | 8 | Jan 29, 2019 |
| HERC1 | 15 | Oct 15, 2019 |
| HERC2 | 27 | Jan 29, 2019 |
| HESX1 | 2 | Jan 29, 2019 |
| HEXA | 24 | Oct 15, 2019 |
| HEXB | 19 | Oct 15, 2019 |
| HFE | 3 | Jan 29, 2019 |
| HFE-AS1 | 2 | Jan 29, 2019 |
| HGD | 1 | Jan 29, 2019 |
| HGF | 10 | Apr 12, 2019 |
| HGSNAT | 15 | Apr 12, 2019 |
| HIBCH | 32 | Apr 12, 2019 |
| HINT1 | 17 | Apr 12, 2019 |
| HIVEP2 | 18 | Oct 15, 2019 |
| HK1 | 5 | Jan 29, 2019 |
| HLCS | 74 | Apr 12, 2019 |
| HMBS | 18 | Jan 29, 2019 |
| HMG20A | 1 | Jun 21, 2014 |
| HMGB3 | 1 | Jan 29, 2019 |
| HMGCL | 23 | Apr 12, 2019 |
| HMGCS2 | 32 | Apr 12, 2019 |
| HMGXB3 | 1 | Jun 21, 2014 |
| HMX1 | 3 | Apr 12, 2019 |
| HNF1A | 69 | Oct 15, 2019 |
| HNF1B | 37 | Oct 15, 2019 |
| HNF4A | 48 | Apr 12, 2019 |
| HNRNPA1 | 1 | Jan 29, 2019 |
| HNRNPDL | 1 | Jan 29, 2019 |
| HNRNPH2 | 5 | Jan 29, 2019 |
| HNRNPK | 10 | Jan 29, 2019 |
| HNRNPU | 35 | Oct 15, 2019 |
| HNRNPU-AS1 | 25 | Apr 12, 2019 |
| HNRNPUL2-BSCL2 | 57 | Apr 12, 2019 |
| HOGA1 | 1 | Jan 29, 2019 |
| HOMER2 | 12 | Apr 12, 2019 |
| HOXA1 | 2 | Oct 15, 2019 |
| HOXA11 | 1 | Jan 29, 2019 |
| HOXB13 | 21 | Apr 12, 2019 |
| HOXD13 | 6 | Jan 29, 2019 |
| HPD | 1 | Mar 26, 2018 |
| HPRT1 | 7 | Mar 13, 2019 |
| HPS1 | 6 | Oct 15, 2019 |
| HPS4 | 1 | Jan 29, 2019 |
| HPS5 | 3 | Jan 29, 2019 |
| HPSE2 | 1 | Jun 21, 2014 |
| HR | 4 | Jan 29, 2019 |
| HRAS | 74 | Jan 29, 2019 |
| HRC | 2 | Mar 26, 2018 |
| HRG | 1 | Jan 29, 2019 |
| HS6ST1 | 1 | Jan 29, 2019 |
| HSD17B10 | 5 | Jan 29, 2019 |
| HSD17B3 | 4 | Jan 29, 2019 |
| HSD17B3-AS1 | 3 | Jan 29, 2019 |
| HSD17B4 | 32 | Apr 12, 2019 |
| HSD3B7 | 2 | Jan 29, 2019 |
| HSF2BP | 1 | Jun 21, 2014 |
| HSPA9 | 2 | Apr 16, 2020 |
| HSPB1 | 30 | Apr 12, 2019 |
| HSPB3 | 1 | Jan 29, 2019 |
| HSPB8 | 14 | Apr 12, 2019 |
| HSPD1 | 26 | Apr 12, 2019 |
| HSPG2 | 18 | Oct 15, 2019 |
| HTR1A | 2 | Mar 26, 2018 |
| HTR2A | 4 | Mar 26, 2018 |
| HTR2C | 3 | Apr 12, 2019 |
| HTRA1 | 1 | Jan 29, 2019 |
| HTRA2 | 4 | Apr 12, 2019 |
| HTT | 2 | Apr 19, 2016 |
| HUWE1 | 39 | Apr 12, 2019 |
| HYDIN | 3 | Jan 29, 2019 |
| IARS1 | 2 | Oct 15, 2019 |
| IARS2 | 58 | Apr 12, 2019 |
| IBA57 | 22 | Oct 15, 2019 |
| IDH2 | 5 | Jan 29, 2019 |
| IDS | 10 | Oct 15, 2019 |
| IDUA | 20 | Oct 15, 2019 |
| IER3IP1 | 6 | Apr 12, 2019 |
| IFIH1 | 9 | Jan 29, 2019 |
| IFITM5 | 13 | Apr 12, 2019 |
| IFNGR1 | 1 | Jan 29, 2019 |
| IFNL3 | 3 | Apr 12, 2019 |
| IFNL4 | 1 | Mar 26, 2018 |
| IFT122 | 13 | Mar 13, 2019 |
| IFT140 | 24 | Mar 13, 2019 |
| IFT172 | 53 | Oct 15, 2019 |
| IFT43 | 2 | Apr 12, 2019 |
| IFT80 | 6 | Jan 29, 2019 |
| IGF1 | 2 | Jan 29, 2019 |
| IGF1R | 9 | Oct 15, 2019 |
| IGF2 | 5 | Jan 29, 2019 |
| IGFALS | 2 | Mar 13, 2019 |
| IGHMBP2 | 169 | Oct 15, 2019 |
| IGK | 5 | Jun 21, 2014 |
| IGL | 1 | Jun 21, 2014 |
| IGSF1 | 4 | Jan 29, 2019 |
| IGSF11 | 2 | Jun 21, 2014 |
| IGSF3 | 1 | Jan 29, 2019 |
| IKBKB | 1 | Jan 29, 2019 |
| IKBKG | 26 | Apr 12, 2019 |
| IKZF1 | 1 | Jan 29, 2019 |
| IL10RA | 2 | Jan 29, 2019 |
| IL11RA | 2 | Jan 29, 2019 |
| IL12RB1 | 2 | Jan 29, 2019 |
| IL17RC | 1 | Jan 29, 2019 |
| IL17RD | 3 | Apr 12, 2019 |
| IL1RAPL1 | 13 | Mar 13, 2019 |
| IL1RAPL2 | 1 | Jun 21, 2014 |
| IL21R | 1 | Jan 29, 2019 |
| IL21R-AS1 | 1 | Jan 29, 2019 |
| IL2RA | 1 | Jan 29, 2019 |
| IL2RG | 30 | Oct 15, 2019 |
| IL7R | 17 | Oct 15, 2019 |
| IL9R | 2 | Jun 21, 2014 |
| ILDR1 | 23 | Apr 12, 2019 |
| ILK | 55 | Apr 12, 2019 |
| IMPDH1 | 5 | Jan 29, 2019 |
| IMPG1 | 1 | Mar 13, 2019 |
| IMPG2 | 3 | Jan 29, 2019 |
| INCA1 | 27 | Apr 12, 2019 |
| INE1 | 1 | Apr 12, 2019 |
| INF2 | 136 | Apr 12, 2019 |
| INPP5E | 51 | Oct 15, 2019 |
| INS | 1 | Mar 26, 2018 |
| INS-IGF2 | 6 | Jan 29, 2019 |
| INSR | 6 | Oct 15, 2019 |
| IQCB1 | 3 | Jan 29, 2019 |
| IQCG | 2 | Mar 26, 2018 |
| IQGAP2 | 1 | Jun 21, 2014 |
| IQSEC2 | 152 | Oct 15, 2019 |
| IRAK1BP1 | 9 | Oct 15, 2019 |
| IRAK3 | 6 | Jan 29, 2019 |
| IRAK4 | 1 | Jan 29, 2019 |
| IRF2BPL | 2 | Mar 13, 2019 |
| IRF6 | 22 | Jan 29, 2019 |
| IRF8 | 3 | Jan 29, 2019 |
| IRX4 | 1 | Jan 29, 2019 |
| ISCA2 | 12 | Oct 15, 2019 |
| ISCU | 23 | Apr 12, 2019 |
| ITFG2 | 1 | Jan 29, 2019 |
| ITGA2B | 7 | Jan 29, 2019 |
| ITGA3 | 2 | Oct 15, 2019 |
| ITGA7 | 113 | Apr 12, 2019 |
| ITGA8 | 1 | Jan 29, 2019 |
| ITGB2 | 11 | Jan 29, 2019 |
| ITGB3 | 2 | Apr 12, 2019 |
| ITGB4 | 13 | Oct 15, 2019 |
| ITPA | 5 | Oct 15, 2019 |
| ITPR1 | 13 | Jan 29, 2019 |
| IVD | 43 | Jan 29, 2019 |
| JAG1 | 112 | Oct 15, 2019 |
| JAK3 | 36 | Oct 15, 2019 |
| JAM3 | 1 | Apr 12, 2019 |
| JMJD1C | 5 | Jan 7, 2020 |
| JMJD8 | 1 | Jan 29, 2019 |
| JPH2 | 109 | Apr 12, 2019 |
| JUP | 143 | Apr 12, 2019 |
| KAAG1 | 2 | Apr 12, 2019 |
| KANK1 | 8 | Jan 29, 2019 |
| KANSL1 | 309 | Oct 15, 2019 |
| KARS1 | 20 | Apr 12, 2019 |
| KAT6A | 53 | Oct 15, 2019 |
| KAT6B | 81 | Oct 15, 2019 |
| KBTBD13 | 42 | Jan 29, 2019 |
| KBTBD4 | 1 | Apr 12, 2019 |
| KCNA1 | 4 | Jan 29, 2019 |
| KCNA2 | 11 | Jan 29, 2019 |
| KCNA3 | 1 | Jan 29, 2019 |
| KCNA5 | 2 | Mar 26, 2018 |
| KCNB1 | 93 | Oct 15, 2019 |
| KCNB2 | 1 | Jun 21, 2014 |
| KCNC1 | 4 | Jan 29, 2019 |
| KCNC3 | 6 | Jan 29, 2019 |
| KCND2 | 1 | Jan 29, 2019 |
| KCND3 | 55 | Apr 12, 2019 |
| KCNE1 | 39 | Apr 12, 2019 |
| KCNE2 | 23 | Apr 12, 2019 |
| KCNE3 | 15 | Apr 12, 2019 |
| KCNH1 | 4 | Jan 29, 2019 |
| KCNH2 | 485 | Oct 15, 2019 |
| KCNJ1 | 1 | Jan 29, 2019 |
| KCNJ10 | 55 | Apr 12, 2019 |
| KCNJ11 | 2 | Jan 29, 2019 |
| KCNJ16 | 1 | Mar 26, 2018 |
| KCNJ2 | 76 | Apr 12, 2019 |
| KCNJ5 | 36 | Apr 12, 2019 |
| KCNJ6 | 2 | Jan 29, 2019 |
| KCNJ8 | 18 | Jan 29, 2019 |
| KCNJ9 | 5 | Jan 29, 2019 |
| KCNK18 | 3 | Jan 29, 2019 |
| KCNK9 | 3 | Jan 29, 2019 |
| KCNMA1 | 6 | Oct 15, 2019 |
| KCNMA1-AS1 | 1 | Jan 29, 2019 |
| KCNN3 | 2 | Apr 12, 2019 |
| KCNQ1 | 418 | Oct 15, 2019 |
| KCNQ1-AS1 | 28 | Apr 12, 2019 |
| KCNQ1OT1 | 15 | Apr 12, 2019 |
| KCNQ2 | 419 | Oct 15, 2019 |
| KCNQ2-AS1 | 1 | Apr 12, 2019 |
| KCNQ3 | 194 | Apr 12, 2019 |
| KCNQ4 | 21 | Apr 12, 2019 |
| KCNQ5 | 2 | Jan 29, 2019 |
| KCNT1 | 453 | Apr 12, 2019 |
| KCNV2 | 3 | Jan 29, 2019 |
| KCTD1 | 1 | Jan 29, 2019 |
| KCTD7 | 53 | Apr 12, 2019 |
| KDM1A | 4 | Apr 12, 2019 |
| KDM3A | 1 | Apr 12, 2019 |
| KDM4B | 2 | Oct 30, 2020 |
| KDM5A | 1 | Jun 21, 2014 |
| KDM5B | 1 | Jan 29, 2019 |
| KDM5C | 30 | Oct 15, 2019 |
| KDM6A | 24 | Oct 15, 2019 |
| KDR | 2 | Jan 29, 2019 |
| KHDRBS2 | 2 | Jun 21, 2014 |
| KIAA0586 | 15 | Oct 15, 2019 |
| KIAA0753 | 3 | Mar 13, 2019 |
| KIAA1109 | 8 | Jan 29, 2019 |
| KIAA1210 | 1 | Mar 26, 2018 |
| KIDINS220 | 3 | Oct 15, 2019 |
| KIF11 | 17 | Oct 15, 2019 |
| KIF14 | 4 | Jan 29, 2019 |
| KIF1A | 257 | Apr 12, 2019 |
| KIF1B | 3 | Jan 29, 2019 |
| KIF1C | 58 | Apr 12, 2019 |
| KIF1C-AS1 | 2 | Mar 26, 2018 |
| KIF21A | 2 | Jan 29, 2019 |
| KIF21B | 2 | Apr 12, 2019 |
| KIF22 | 2 | Jan 29, 2019 |
| KIF2A | 51 | Apr 12, 2019 |
| KIF4A | 1 | Mar 26, 2018 |
| KIF5A | 65 | Apr 12, 2019 |
| KIF5C | 54 | Apr 12, 2019 |
| KIF7 | 71 | Apr 12, 2019 |
| KIFBP | 21 | Apr 12, 2019 |
| KIRREL3 | 5 | Jan 29, 2019 |
| KISS1 | 5 | Apr 12, 2019 |
| KISS1R | 10 | Apr 12, 2019 |
| KIT | 2 | Mar 13, 2019 |
| KITLG | 7 | Apr 12, 2019 |
| KIZ | 1 | Mar 13, 2019 |
| KLHL15 | 1 | Jan 29, 2019 |
| KLHL24 | 3 | Jan 29, 2019 |
| KLHL3 | 2 | Mar 13, 2019 |
| KLHL32 | 1 | Apr 12, 2019 |
| KLHL40 | 41 | Apr 12, 2019 |
| KLHL41 | 3 | Oct 15, 2019 |
| KLHL7 | 2 | Jan 29, 2019 |
| KLHL9 | 2 | Jan 29, 2019 |
| KLKB1 | 1 | Jan 29, 2019 |
| KLLN | 132 | Jan 29, 2019 |
| KMT2A | 81 | Oct 15, 2019 |
| KMT2B | 15 | Oct 15, 2019 |
| KMT2C | 24 | Oct 15, 2019 |
| KMT2D | 117 | Oct 15, 2019 |
| KMT2E | 2 | Jan 29, 2019 |
| KMT5B | 1 | Mar 13, 2019 |
| KNL1 | 13 | Oct 15, 2019 |
| KPTN | 5 | Mar 13, 2019 |
| KRAS | 62 | Jan 29, 2019 |
| KRIT1 | 44 | Oct 15, 2019 |
| KRT1 | 13 | Oct 15, 2019 |
| KRT10 | 17 | Apr 12, 2019 |
| KRT14 | 20 | Oct 15, 2019 |
| KRT16 | 12 | Jan 29, 2019 |
| KRT17 | 7 | Jan 29, 2019 |
| KRT2 | 2 | Jan 29, 2019 |
| KRT5 | 25 | Oct 15, 2019 |
| KRT6A | 14 | Jan 29, 2019 |
| KRT6B | 4 | Jan 29, 2019 |
| KRT6C | 1 | Jan 29, 2019 |
| KRT8 | 2 | Jan 29, 2019 |
| KRT83 | 1 | Jan 29, 2019 |
| KRT9 | 3 | Jan 29, 2019 |
| KRTCAP3 | 4 | Jan 29, 2019 |
| KSR2 | 1 | Mar 26, 2018 |
| KYNU | 2 | Jan 29, 2019 |
| L1CAM | 74 | Oct 15, 2019 |
| L2HGDH | 5 | Jan 29, 2019 |
| LAMA1 | 14 | Oct 15, 2019 |
| LAMA2 | 355 | Oct 15, 2019 |
| LAMA3 | 13 | Mar 13, 2019 |
| LAMA4 | 311 | Apr 12, 2019 |
| LAMA4-AS1 | 11 | Jan 29, 2019 |
| LAMA5 | 4 | Jan 29, 2019 |
| LAMB1 | 113 | Oct 15, 2019 |
| LAMB2 | 4 | Jan 29, 2019 |
| LAMB3 | 23 | Oct 15, 2019 |
| LAMC1 | 1 | Jan 29, 2019 |
| LAMC2 | 5 | Oct 15, 2019 |
| LAMC3 | 110 | Apr 12, 2019 |
| LAMP2 | 98 | Apr 12, 2019 |
| LANCL1 | 1 | Apr 12, 2019 |
| LARGE1 | 95 | Apr 12, 2019 |
| LARP7 | 12 | Oct 15, 2019 |
| LARS1 | 123 | Apr 12, 2019 |
| LARS2 | 79 | Apr 12, 2019 |
| LARS2-AS1 | 25 | Apr 12, 2019 |
| LAS1L | 3 | Jan 29, 2019 |
| LBHD1 | 2 | Apr 12, 2019 |
| LBR | 5 | Jan 29, 2019 |
| LCT | 1 | Jan 29, 2019 |
| LDB3 | 210 | Apr 12, 2019 |
| LDHA | 28 | Apr 12, 2019 |
| LDLR | 115 | Oct 15, 2019 |
| LDLR-AS1 | 2 | Mar 26, 2018 |
| LDLRAP1 | 11 | Oct 15, 2019 |
| LEFTY2 | 6 | Jan 29, 2019 |
| LEMD3 | 4 | Oct 15, 2019 |
| LEPR | 2 | Jan 29, 2019 |
| LGI1 | 43 | Apr 12, 2019 |
| LGI4 | 1 | Jan 29, 2019 |
| LHCGR | 7 | Jan 29, 2019 |
| LHX3 | 13 | Apr 12, 2019 |
| LHX4 | 6 | Jan 29, 2019 |
| LHX4-AS1 | 4 | Jan 29, 2019 |
| LHX5 | 1 | Mar 26, 2018 |
| LIAS | 53 | Oct 15, 2019 |
| LIFR | 3 | Oct 15, 2019 |
| LIG4 | 16 | Jan 29, 2019 |
| LIM2 | 1 | Apr 12, 2019 |
| LINC00271 | 1 | Jun 21, 2014 |
| LINC01266 | 1 | Jun 21, 2014 |
| LINC01389 | 6 | Jan 29, 2019 |
| LINC02008 | 1 | Jun 21, 2014 |
| LINGO2 | 2 | Jun 21, 2014 |
| LINS1 | 4 | Oct 15, 2019 |
| LIPA | 10 | Apr 12, 2019 |
| LIPC | 1 | Jan 29, 2019 |
| LIPE | 2 | Jan 29, 2019 |
| LIPE-AS1 | 2 | Jan 29, 2019 |
| LIPH | 2 | Jan 29, 2019 |
| LIPT1 | 20 | Jan 29, 2019 |
| LIPT2 | 1 | Mar 26, 2018 |
| LITAF | 36 | Apr 12, 2019 |
| LMBR1 | 4 | Apr 12, 2019 |
| LMBRD1 | 28 | Apr 12, 2019 |
| LMNA | 275 | Oct 15, 2019 |
| LMNB1 | 1 | Apr 12, 2019 |
| LMOD3 | 3 | Oct 15, 2019 |
| LMX1B | 9 | Apr 12, 2019 |
| LOC100128979 | 11 | Apr 12, 2019 |
| LOC100130587 | 18 | Apr 12, 2019 |
| LOC100130691 | 2 | Apr 12, 2019 |
| LOC100130798 | 2 | Mar 13, 2019 |
| LOC100287467 | 1 | Mar 26, 2018 |
| LOC100287944 | 3 | Jan 29, 2019 |
| LOC100289580 | 10 | Mar 13, 2019 |
| LOC100505549 | 32 | Sep 10, 2020 |
| LOC100506071 | 18 | Apr 12, 2019 |
| LOC100506321 | 2 | Apr 12, 2019 |
| LOC100507346 | 29 | Apr 12, 2019 |
| LOC100507443 | 8 | Apr 12, 2019 |
| LOC100996842 | 3 | Mar 26, 2018 |
| LOC101448202 | 175 | Apr 12, 2019 |
| LOC101926943 | 1 | Jan 29, 2019 |
| LOC101927055 | 72 | Apr 12, 2019 |
| LOC101927151 | 2 | Jun 21, 2014 |
| LOC101927157 | 5 | Oct 15, 2019 |
| LOC101927188 | 1 | Dec 21, 2016 |
| LOC101927506 | 2 | Jun 21, 2014 |
| LOC101927752 | 4 | Jan 29, 2019 |
| LOC101927870 | 44 | Apr 12, 2019 |
| LOC101928008 | 36 | Apr 12, 2019 |
| LOC101928174 | 91 | Apr 12, 2019 |
| LOC101928222 | 1 | Dec 21, 2016 |
| LOC101929089 | 3 | Jan 29, 2019 |
| LOC101929524 | 13 | Apr 12, 2019 |
| LOC101929710 | 5 | Jan 29, 2019 |
| LOC101930071 | 1 | Jan 29, 2019 |
| LOC102723566 | 30 | Oct 15, 2019 |
| LOC102723692 | 1 | Jan 29, 2019 |
| LOC102723701 | 1 | Mar 26, 2018 |
| LOC102724058 | 357 | Oct 15, 2019 |
| LOC102724378 | 1 | Mar 26, 2018 |
| LOC105370802 | 1 | Jun 21, 2014 |
| LOC105371046 | 7 | Jan 29, 2019 |
| LOC105371049 | 4 | Oct 15, 2019 |
| LOC105371566 | 91 | Apr 12, 2019 |
| LOC105374727 | 1 | Mar 26, 2018 |
| LOC105378311 | 2 | Jan 29, 2019 |
| LOC105943586 | 4 | Mar 26, 2018 |
| LOC106029240 | 1 | Jun 21, 2014 |
| LOC106029312 | 3 | Jan 29, 2019 |
| LOC106050102 | 8 | Apr 12, 2019 |
| LOC106099062 | 12 | Oct 15, 2019 |
| LOC106099063 | 1 | Nov 28, 2017 |
| LOC106099065 | 1 | Jan 29, 2019 |
| LOC106501713 | 4 | Jan 29, 2019 |
| LOC106560211 | 4 | Apr 12, 2019 |
| LOC106627981 | 12 | Jan 29, 2019 |
| LOC106694315 | 1 | Jan 29, 2019 |
| LOC106694316 | 4 | Jan 29, 2019 |
| LOC106721785 | 8 | Apr 12, 2019 |
| LOC106736614 | 1 | Apr 12, 2019 |
| LOC106780800 | 1 | Jan 29, 2019 |
| LOC106780803 | 1 | Jan 29, 2019 |
| LOC106799833 | 2 | Jan 29, 2019 |
| LOC106799834 | 1 | Mar 26, 2018 |
| LOC106804612 | 1 | Jan 29, 2019 |
| LOC107075317 | 11 | Apr 12, 2019 |
| LOC107080555 | 2 | Mar 26, 2018 |
| LOC107126281 | 1 | Jan 29, 2019 |
| LOC107133510 | 13 | Oct 15, 2019 |
| LOC107303338 | 4 | Jan 29, 2019 |
| LOC107303340 | 69 | Apr 12, 2019 |
| LOC107303343 | 4 | Jan 29, 2019 |
| LOC107372315 | 1 | Jan 29, 2019 |
| LOC107982234 | 10 | Apr 12, 2019 |
| LOC107985033 | 1 | Jan 29, 2019 |
| LOC107988030 | 2 | Apr 12, 2019 |
| LOC107988032 | 19 | Jan 29, 2019 |
| LOC108021846 | 6 | Apr 12, 2019 |
| LOC108491825 | 1 | Jan 29, 2019 |
| LOC108663984 | 11 | Apr 12, 2019 |
| LOC108903148 | 1 | Jan 29, 2019 |
| LOC109115964 | 1 | Jan 29, 2019 |
| LOC109504725 | 5 | Jan 29, 2019 |
| LOC109610631 | 18 | Apr 12, 2019 |
| LOC110006319 | 2 | Jan 29, 2019 |
| LOC110011216 | 7 | Apr 12, 2019 |
| LOC110120845 | 1 | Jan 29, 2019 |
| LOC110121269 | 56 | Apr 12, 2019 |
| LOC110121288 | 27 | Apr 12, 2019 |
| LOC110121486 | 20 | Apr 12, 2019 |
| LOC110121502 | 2 | Mar 26, 2018 |
| LOC110386951 | 1 | Mar 26, 2018 |
| LOC110467516 | 1 | Mar 26, 2018 |
| LOC110599570 | 1 | Apr 12, 2019 |
| LOC110673972 | 1 | Jan 29, 2019 |
| LOC110806306 | 1 | Feb 15, 2017 |
| LOC111162621 | 1 | Jan 29, 2019 |
| LOC111589215 | 12 | Jan 29, 2019 |
| LOC111674472 | 4 | Jan 29, 2019 |
| LOC111674475 | 3 | Jan 29, 2019 |
| LOC111674477 | 1 | Mar 26, 2018 |
| LOC111718493 | 2 | Apr 12, 2019 |
| LOC111721705 | 2 | Jan 29, 2019 |
| LOC111811965 | 5 | Jan 29, 2019 |
| LOC111982869 | 3 | Mar 13, 2019 |
| LOC112081413 | 1 | Mar 26, 2018 |
| LOC112272566 | 3 | Apr 12, 2019 |
| LOC112449713 | 4 | Mar 26, 2018 |
| LOC112469007 | 7 | Apr 12, 2019 |
| LOC112529895 | 4 | Mar 26, 2018 |
| LOC112543448 | 1 | Aug 30, 2018 |
| LOC112552175 | 3 | Jan 29, 2019 |
| LOC112694756 | 41 | Jan 29, 2019 |
| LOC112903839 | 2 | Apr 12, 2019 |
| LOC112939935 | 6 | Apr 12, 2019 |
| LOC112997540 | 8 | Oct 15, 2019 |
| LOC113788297 | 11 | Apr 12, 2019 |
| LOC113839516 | 4 | Apr 12, 2019 |
| LOC113939944 | 11 | Jan 29, 2019 |
| LOC113939973 | 1 | Apr 12, 2019 |
| LOC114022706 | 1 | Jan 29, 2019 |
| LOC114803469 | 1 | Jan 29, 2019 |
| LOC114803470 | 10 | Apr 12, 2019 |
| LOC114827827 | 2 | Jan 29, 2019 |
| LOC114827831 | 1 | Apr 12, 2019 |
| LOC114827850 | 18 | Apr 12, 2019 |
| LOC114827851 | 27 | Apr 12, 2019 |
| LOC117038795 | 1 | Mar 26, 2018 |
| LOC117125594 | 4 | Apr 12, 2019 |
| LOC118142757 | 4 | Jan 29, 2019 |
| LOC119369037 | 1 | Mar 26, 2018 |
| LOC119407423 | 2 | Mar 26, 2018 |
| LOC349160 | 26 | Apr 12, 2019 |
| LOC400499 | 1 | Jun 21, 2014 |
| LOC730100 | 3 | Jun 21, 2014 |
| LONP1 | 13 | Oct 15, 2019 |
| LORICRIN | 2 | Oct 15, 2019 |
| LOX | 2 | Jan 29, 2019 |
| LOXHD1 | 83 | Oct 15, 2019 |
| LOXL2 | 1 | Mar 26, 2018 |
| LPIN1 | 51 | Apr 12, 2019 |
| LPIN2 | 114 | Apr 12, 2019 |
| LPL | 3 | Jan 29, 2019 |
| LPP | 1 | Jun 21, 2014 |
| LRAT | 3 | Oct 15, 2019 |
| LRBA | 12 | Oct 15, 2019 |
| LRGUK | 1 | Mar 26, 2018 |
| LRIT3 | 1 | Jan 29, 2019 |
| LRP1 | 1 | Dec 21, 2016 |
| LRP2 | 20 | Oct 15, 2019 |
| LRP4 | 7 | Jan 29, 2019 |
| LRP4-AS1 | 3 | Jan 29, 2019 |
| LRP5 | 35 | Apr 12, 2019 |
| LRP6 | 7 | Mar 13, 2019 |
| LRPPRC | 153 | Apr 12, 2019 |
| LRRC37A2 | 53 | Nov 4, 2020 |
| LRRC56 | 74 | Jan 29, 2019 |
| LRRC69 | 1 | Jun 21, 2014 |
| LRRK2 | 8 | Jan 29, 2019 |
| LRRTM4 | 1 | Dec 21, 2016 |
| LRSAM1 | 95 | Apr 12, 2019 |
| LRTOMT | 8 | Apr 12, 2019 |
| LSS | 10 | Apr 12, 2019 |
| LTBP2 | 5 | Apr 12, 2019 |
| LTBP3 | 6 | Jan 29, 2019 |
| LTBP4 | 128 | Apr 12, 2019 |
| LURAP1L-AS1 | 2 | Jan 29, 2019 |
| LXN | 1 | Apr 12, 2019 |
| LYN | 1 | Apr 12, 2019 |
| LYRM4 | 19 | Apr 12, 2019 |
| LYRM4-AS1 | 10 | Apr 12, 2019 |
| LYRM7 | 10 | Oct 15, 2019 |
| LYST | 42 | Apr 12, 2019 |
| LZTFL1 | 1 | Jan 29, 2019 |
| LZTR1 | 147 | Oct 15, 2019 |
| MAB21L2 | 3 | Jan 29, 2019 |
| MACF1 | 1 | Jun 21, 2014 |
| MACROD2 | 10 | Jun 21, 2014 |
| MAD1L1 | 1 | Jun 21, 2014 |
| MADD | 2 | Jan 29, 2019 |
| MAF | 37 | Apr 12, 2019 |
| MAFB | 2 | Jan 29, 2019 |
| MAG | 2 | Jan 29, 2019 |
| MAGEL2 | 24 | Oct 15, 2019 |
| MAGI1 | 2 | Mar 26, 2018 |
| MAGI2 | 3 | Jan 29, 2019 |
| MAGT1 | 4 | Jan 29, 2019 |
| MAK | 3 | Nov 14, 2019 |
| MALRD1 | 1 | Jun 21, 2014 |
| MAN1B1 | 6 | Oct 15, 2019 |
| MAN2B1 | 22 | Apr 12, 2019 |
| MANBA | 20 | Apr 12, 2019 |
| MAOA | 4 | Jan 29, 2019 |
| MAP2K1 | 77 | Jun 24, 2019 |
| MAP2K2 | 167 | Jun 24, 2019 |
| MAP3K1 | 3 | Jan 29, 2019 |
| MAP3K15 | 1 | Mar 26, 2018 |
| MAP3K7 | 5 | Jan 29, 2019 |
| MAP4K4 | 1 | Mar 26, 2018 |
| MAP4K5 | 3 | Apr 12, 2019 |
| MAPK8IP3 | 1 | Mar 26, 2018 |
| MAPT | 4 | Jan 29, 2019 |
| MARS1 | 58 | Apr 12, 2019 |
| MARS2 | 28 | Apr 12, 2019 |
| MARVELD2 | 19 | Oct 15, 2019 |
| MASP1 | 6 | Jan 29, 2019 |
| MASTL | 2 | Jan 29, 2019 |
| MAT1A | 12 | Jan 29, 2019 |
| MAT2A | 42 | Apr 12, 2019 |
| MATN3 | 2 | Mar 26, 2018 |
| MATR3 | 1 | Jan 29, 2019 |
| MAX | 9 | Apr 12, 2019 |
| MBD5 | 219 | Oct 15, 2019 |
| MBOAT7 | 1 | Oct 15, 2019 |
| MBTPS2 | 6 | Jan 29, 2019 |
| MC1R | 10 | Jan 29, 2019 |
| MC2R | 1 | Jan 29, 2019 |
| MC4R | 8 | Jan 29, 2019 |
| MCC | 1 | Jun 21, 2014 |
| MCCC1 | 56 | Apr 12, 2019 |
| MCCC2 | 50 | Oct 15, 2019 |
| MCEE | 11 | Jan 29, 2019 |
| MCF2 | 1 | Mar 26, 2018 |
| MCFD2 | 1 | Jan 29, 2019 |
| MCM2 | 26 | Apr 12, 2019 |
| MCM3AP | 2 | Oct 15, 2019 |
| MCM3AP-AS1 | 1 | Oct 15, 2019 |
| MCM4 | 1 | Jan 29, 2019 |
| MCM7 | 4 | Apr 12, 2019 |
| MCM8 | 1 | Jan 29, 2019 |
| MCOLN1 | 13 | Oct 15, 2019 |
| MCPH1 | 51 | Apr 12, 2019 |
| MCPH1-AS1 | 7 | Apr 12, 2019 |
| MCS+9.7 | 2 | Mar 26, 2018 |
| MDGA2 | 1 | Jun 21, 2014 |
| MDH2 | 1 | Apr 12, 2019 |
| MEA1 | 8 | Jan 29, 2019 |
| MECOM | 1 | Mar 13, 2019 |
| MECP2 | 224 | Oct 15, 2019 |
| MECR | 3 | Jan 29, 2019 |
| MED12 | 200 | Oct 15, 2019 |
| MED13 | 9 | Oct 15, 2019 |
| MED13L | 49 | Oct 15, 2019 |
| MED17 | 1 | Jan 29, 2019 |
| MED20 | 1 | Jan 29, 2019 |
| MED23 | 25 | Apr 12, 2019 |
| MED25 | 16 | Jan 29, 2019 |
| MEF2A | 1 | Mar 26, 2018 |
| MEF2C | 75 | Oct 15, 2019 |
| MEF2C-AS2 | 5 | Jan 29, 2019 |
| MEFV | 115 | Apr 12, 2019 |
| MEGF10 | 124 | Apr 12, 2019 |
| MEGF8 | 4 | Jan 29, 2019 |
| MEIS2 | 7 | Mar 13, 2019 |
| MEN1 | 138 | Oct 15, 2019 |
| MERTK | 4 | Jan 29, 2019 |
| MESP2 | 1 | Mar 13, 2019 |
| MET | 78 | Apr 12, 2019 |
| METTL23 | 4 | Jan 29, 2019 |
| MFAP5 | 36 | Apr 12, 2019 |
| MFF | 32 | Apr 12, 2019 |
| MFF-DT | 57 | Apr 12, 2019 |
| MFHAS1 | 1 | Jun 21, 2014 |
| MFN2 | 150 | Oct 15, 2019 |
| MFRP | 4 | Oct 15, 2019 |
| MFSD8 | 101 | Oct 15, 2019 |
| MGAT2 | 16 | Oct 15, 2019 |
| MGME1 | 14 | Apr 12, 2019 |
| MGP | 2 | Jan 29, 2019 |
| MHRT | 96 | Apr 12, 2019 |
| MIB1 | 88 | Apr 12, 2019 |
| MICU1 | 35 | Apr 12, 2019 |
| MID1 | 7 | Oct 15, 2019 |
| MIF4GD-DT | 2 | Apr 12, 2019 |
| MILR1 | 37 | Apr 12, 2019 |
| MIP | 3 | Jan 29, 2019 |
| MIPEP | 1 | Jan 29, 2019 |
| MIPOL1 | 1 | Jun 21, 2014 |
| MIR302CHG | 6 | Oct 15, 2019 |
| MIR3606 | 1 | Mar 26, 2018 |
| MIR3667HG | 1 | Jun 21, 2014 |
| MIR4321 | 1 | Jan 29, 2019 |
| MIR4497 | 1 | Mar 26, 2018 |
| MIR4673 | 4 | Apr 12, 2019 |
| MIR4713HG | 7 | Jan 29, 2019 |
| MIR5004 | 1 | Jan 29, 2019 |
| MIR6501 | 1 | Jan 29, 2019 |
| MIR6741 | 1 | Jan 29, 2019 |
| MIR6758 | 1 | Mar 26, 2018 |
| MIR6766 | 2 | Mar 26, 2018 |
| MIR6793 | 1 | Mar 26, 2018 |
| MIR6841 | 1 | Mar 26, 2018 |
| MIR7113 | 1 | Mar 26, 2018 |
| MIR96 | 2 | Mar 26, 2018 |
| MIR9718 | 1 | Jan 29, 2019 |
| MITD1 | 14 | Jan 29, 2019 |
| MITF | 32 | Apr 12, 2019 |
| MKKS | 6 | Jan 29, 2019 |
| MKRN3 | 3 | Oct 15, 2019 |
| MKS1 | 35 | Apr 12, 2019 |
| MLC1 | 4 | Mar 13, 2019 |
| MLH1 | 639 | Oct 15, 2019 |
| MLH3 | 2 | Jan 29, 2019 |
| MLLT3 | 1 | Jun 21, 2014 |
| MLPH | 1 | Jan 29, 2019 |
| MLYCD | 45 | Oct 15, 2019 |
| MMAA | 22 | Apr 12, 2019 |
| MMAB | 37 | Apr 12, 2019 |
| MMACHC | 33 | Oct 15, 2019 |
| MMADHC | 21 | Apr 12, 2019 |
| MMADHC-DT | 3 | Apr 12, 2019 |
| MME | 12 | Oct 15, 2019 |
| MMP13 | 3 | Jan 29, 2019 |
| MMP2 | 1 | Jan 29, 2019 |
| MMP21 | 3 | Jan 29, 2019 |
| MMP9 | 2 | Jan 29, 2019 |
| MMUT | 61 | Apr 12, 2019 |
| MN1 | 1 | Dec 21, 2016 |
| MNX1 | 5 | Oct 15, 2019 |
| MNX1-AS2 | 1 | Jan 29, 2019 |
| MOCS1 | 4 | Jan 29, 2019 |
| MOCS2 | 2 | Jan 29, 2019 |
| MOGS | 25 | Jan 29, 2019 |
| MORC2 | 13 | Jan 6, 2020 |
| MPC1 | 8 | Apr 12, 2019 |
| MPDU1 | 15 | Oct 15, 2019 |
| MPDZ | 9 | Oct 15, 2019 |
| MPHOSPH9 | 1 | Apr 12, 2019 |
| MPI | 25 | Apr 12, 2019 |
| MPL | 8 | Jan 29, 2019 |
| MPLKIP | 1 | Jan 29, 2019 |
| MPO | 7 | Jan 29, 2019 |
| MPRIP | 1 | Jun 21, 2014 |
| MPV17 | 25 | Apr 12, 2019 |
| MPZ | 57 | Oct 15, 2019 |
| MRAP | 1 | Jan 29, 2019 |
| MRAP-AS1 | 1 | Jan 29, 2019 |
| MRE11 | 36 | Jan 29, 2019 |
| MRPL12 | 18 | Apr 12, 2019 |
| MRPL21 | 1 | Apr 12, 2019 |
| MRPL3 | 24 | Apr 12, 2019 |
| MRPL36 | 2 | Mar 26, 2018 |
| MRPL44 | 23 | Apr 12, 2019 |
| MRPS12 | 4 | Jan 29, 2019 |
| MRPS16 | 20 | Apr 12, 2019 |
| MRPS22 | 32 | Apr 12, 2019 |
| MRPS34 | 2 | Apr 12, 2019 |
| MRPS7 | 22 | Apr 12, 2019 |
| MSH2 | 722 | Jul 9, 2019 |
| MSH6 | 1074 | Oct 29, 2020 |
| MSI2 | 2 | Jun 21, 2014 |
| MSL3 | 3 | Oct 15, 2019 |
| MSR1 | 1 | Jan 29, 2019 |
| MSRA | 2 | Jun 21, 2014 |
| MSRB3 | 9 | Apr 12, 2019 |
| MSTO1 | 2 | Aug 20, 2019 |
| MTERF4 | 1 | Apr 12, 2019 |
| MTFMT | 36 | Oct 15, 2019 |
| MTHFD1 | 1 | Jan 29, 2019 |
| MTHFD2L | 1 | Jun 21, 2014 |
| MTHFR | 13 | Apr 12, 2019 |
| MTM1 | 44 | Oct 15, 2019 |
| MTMR2 | 47 | Apr 12, 2019 |
| MTO1 | 42 | Apr 12, 2019 |
| MTOR | 15 | Jan 29, 2019 |
| MTOR-AS1 | 1 | Mar 26, 2018 |
| MTPAP | 40 | Apr 12, 2019 |
| MTR | 83 | Apr 12, 2019 |
| MTRFR | 17 | Apr 12, 2019 |
| MTRR | 62 | Oct 15, 2019 |
| MTTP | 1 | Mar 13, 2019 |
| MUS81 | 4 | Apr 12, 2019 |
| MUSK | 42 | Apr 12, 2019 |
| MUTYH | 285 | Apr 12, 2019 |
| MVK | 50 | Oct 15, 2019 |
| MYBPC1 | 3 | Mar 13, 2019 |
| MYBPC3 | 712 | Oct 15, 2019 |
| MYCN | 29 | Oct 15, 2019 |
| MYCNOS | 7 | Oct 15, 2019 |
| MYEF2 | 3 | Oct 15, 2019 |
| MYF6 | 2 | Jan 29, 2019 |
| MYH11 | 442 | Sep 26, 2019 |
| MYH14 | 61 | Apr 12, 2019 |
| MYH2 | 19 | Mar 13, 2019 |
| MYH3 | 16 | Apr 12, 2019 |
| MYH6 | 225 | Apr 12, 2019 |
| MYH7 | 729 | Jan 8, 2020 |
| MYH7B | 8 | Jan 29, 2019 |
| MYH8 | 3 | Jan 29, 2019 |
| MYH9 | 58 | Apr 12, 2019 |
| MYHAS | 22 | Mar 13, 2019 |
| MYL2 | 68 | Apr 12, 2019 |
| MYL3 | 59 | Apr 12, 2019 |
| MYLK | 210 | Apr 12, 2019 |
| MYLK-AS1 | 18 | Apr 12, 2019 |
| MYLK2 | 82 | Apr 12, 2019 |
| MYO10 | 1 | Jun 21, 2014 |
| MYO15A | 133 | Oct 15, 2019 |
| MYO1A | 27 | Apr 12, 2019 |
| MYO1C | 56 | Apr 12, 2019 |
| MYO1D | 1 | Jun 21, 2014 |
| MYO1F | 33 | Apr 12, 2019 |
| MYO3A | 51 | Apr 12, 2019 |
| MYO5B | 2 | Mar 13, 2019 |
| MYO6 | 30 | Apr 12, 2019 |
| MYO7A | 178 | Oct 15, 2019 |
| MYOC | 3 | Jan 29, 2019 |
| MYOD1 | 1 | Jan 29, 2019 |
| MYOM1 | 9 | Apr 12, 2019 |
| MYOM2 | 1 | Jun 21, 2014 |
| MYOT | 26 | Apr 12, 2019 |
| MYOZ2 | 50 | Apr 12, 2019 |
| MYPN | 245 | Apr 12, 2019 |
| MYRF | 3 | Oct 15, 2019 |
| MYT1L | 17 | Jan 29, 2019 |
| NAA10 | 16 | Nov 13, 2020 |
| NAA15 | 7 | Oct 15, 2019 |
| NACC1 | 3 | Apr 12, 2019 |
| NADK2 | 26 | Apr 12, 2019 |
| NAGA | 11 | Apr 12, 2019 |
| NAGLU | 7 | Apr 12, 2019 |
| NAGS | 28 | Apr 12, 2019 |
| NALCN | 19 | Oct 15, 2019 |
| NARS2 | 52 | Oct 15, 2019 |
| NAXE | 2 | Jan 29, 2019 |
| NBAS | 16 | Oct 15, 2019 |
| NBEAL2 | 3 | Jan 29, 2019 |
| NBN | 359 | Oct 15, 2019 |
| NBPF10 | 2 | Jun 21, 2014 |
| NBPF19 | 1 | Jun 21, 2014 |
| NBPF9 | 1 | Jun 21, 2014 |
| NCAPD3 | 1 | Mar 26, 2018 |
| NCAPH2 | 22 | Jan 29, 2019 |
| NCF1 | 3 | Jan 29, 2019 |
| NCF2 | 13 | Jan 29, 2019 |
| NCOR1 | 1 | Jun 21, 2014 |
| NCSTN | 1 | Jan 29, 2019 |
| NDE1 | 214 | Sep 26, 2019 |
| NDP | 11 | Apr 12, 2019 |
| NDP-AS1 | 10 | Apr 12, 2019 |
| NDRG1 | 67 | Apr 12, 2019 |
| NDST1 | 2 | Jan 29, 2019 |
| NDUFA1 | 7 | Apr 12, 2019 |
| NDUFA10 | 60 | Apr 12, 2019 |
| NDUFA11 | 24 | Apr 12, 2019 |
| NDUFA12 | 14 | Apr 12, 2019 |
| NDUFA2 | 13 | Apr 12, 2019 |
| NDUFA4 | 12 | Apr 12, 2019 |
| NDUFA9 | 51 | Apr 12, 2019 |
| NDUFAF1 | 22 | Jan 29, 2019 |
| NDUFAF2 | 23 | Apr 12, 2019 |
| NDUFAF3 | 18 | Apr 12, 2019 |
| NDUFAF4 | 17 | Apr 12, 2019 |
| NDUFAF5 | 47 | Apr 12, 2019 |
| NDUFAF6 | 50 | Apr 12, 2019 |
| NDUFAF7 | 42 | Apr 12, 2019 |
| NDUFB11 | 3 | Jan 29, 2019 |
| NDUFB3 | 12 | Apr 12, 2019 |
| NDUFB9 | 25 | Apr 12, 2019 |
| NDUFS1 | 67 | Oct 15, 2019 |
| NDUFS2 | 46 | Apr 12, 2019 |
| NDUFS3 | 18 | Apr 12, 2019 |
| NDUFS4 | 25 | Apr 12, 2019 |
| NDUFS6 | 17 | Apr 12, 2019 |
| NDUFS7 | 45 | Apr 12, 2019 |
| NDUFS8 | 28 | Apr 12, 2019 |
| NDUFV1 | 64 | Apr 12, 2019 |
| NDUFV2 | 21 | Apr 12, 2019 |
| NDUFV2-AS1 | 11 | Apr 12, 2019 |
| NEB | 623 | Oct 15, 2019 |
| NEBL | 215 | Apr 12, 2019 |
| NECTIN4 | 1 | Jan 29, 2019 |
| NEDD4L | 4 | Jan 29, 2019 |
| NEFH | 1 | Jan 29, 2019 |
| NEFL | 36 | Apr 12, 2019 |
| NEGR1 | 1 | Jun 21, 2014 |
| NEK1 | 57 | Apr 12, 2019 |
| NEK8 | 1 | Jan 29, 2019 |
| NEK9 | 2 | Jan 29, 2019 |
| NEMF | 5 | Jul 27, 2020 |
| NEU1 | 4 | Jan 29, 2019 |
| NEURL2 | 1 | Apr 12, 2019 |
| NEXMIF | 31 | Oct 15, 2019 |
| NEXN | 104 | Apr 12, 2019 |
| NEXN-AS1 | 1 | Mar 26, 2018 |
| NF1 | 679 | Oct 15, 2019 |
| NF2 | 51 | Oct 15, 2019 |
| NFIA | 13 | Oct 15, 2019 |
| NFIB | 1 | Nov 28, 2017 |
| NFIX | 36 | Oct 15, 2019 |
| NFKB1 | 10 | Oct 15, 2019 |
| NFKB2 | 5 | Mar 13, 2019 |
| NFKBIA | 3 | Jan 29, 2019 |
| NFS1 | 40 | Apr 12, 2019 |
| NFU1 | 34 | Apr 12, 2019 |
| NGF | 14 | Apr 12, 2019 |
| NGF-AS1 | 14 | Apr 12, 2019 |
| NGLY1 | 41 | Oct 15, 2019 |
| NHEJ1 | 13 | Apr 12, 2019 |
| NHLRC1 | 49 | Oct 15, 2019 |
| NHS | 13 | Apr 12, 2019 |
| NICN1 | 1 | Jan 29, 2019 |
| NID1 | 6 | Apr 12, 2019 |
| NINL | 1 | Jun 21, 2014 |
| NIP7 | 4 | Apr 12, 2019 |
| NIPA1 | 18 | Apr 12, 2019 |
| NIPAL4 | 5 | Jan 29, 2019 |
| NIPBL | 91 | Oct 15, 2019 |
| NKAIN2 | 1 | Jun 21, 2014 |
| NKIRAS1 | 2 | Jan 29, 2019 |
| NKX2-1 | 14 | Oct 15, 2019 |
| NKX2-1-AS1 | 1 | Jan 29, 2019 |
| NKX2-5 | 46 | Oct 15, 2019 |
| NKX2-6 | 2 | Jan 29, 2019 |
| NKX3-2 | 1 | Mar 26, 2018 |
| NKX6-2 | 2 | Jan 29, 2019 |
| NLGN2 | 1 | Jan 29, 2019 |
| NLGN3 | 3 | Apr 12, 2019 |
| NLGN4X | 11 | Jan 29, 2019 |
| NLGN4Y | 1 | Jan 29, 2019 |
| NLRC4 | 6 | Jan 29, 2019 |
| NLRP1 | 5 | Jan 29, 2019 |
| NLRP12 | 10 | Jan 29, 2019 |
| NLRP3 | 97 | Apr 12, 2019 |
| NME8 | 2 | Jan 29, 2019 |
| NMNAT1 | 2 | Jan 29, 2019 |
| NNT | 1 | Jan 29, 2019 |
| NOBOX | 7 | Mar 26, 2018 |
| NOC3L | 1 | Jan 29, 2019 |
| NOD2 | 7 | Jan 29, 2019 |
| NODAL | 3 | Jan 29, 2019 |
| NOG | 3 | Jan 29, 2019 |
| NONO | 10 | Jan 29, 2019 |
| NOP10 | 1 | Apr 12, 2019 |
| NOTCH1 | 492 | Oct 15, 2019 |
| NOTCH2 | 12 | Jan 29, 2019 |
| NOTCH3 | 20 | Oct 15, 2019 |
| NOXO1 | 2 | Apr 12, 2019 |
| NPAS3 | 1 | Jun 21, 2014 |
| NPC1 | 46 | Jan 29, 2019 |
| NPC2 | 3 | Apr 12, 2019 |
| NPHP1 | 11 | Jan 29, 2019 |
| NPHP3 | 71 | Apr 12, 2019 |
| NPHP3-ACAD11 | 74 | Apr 12, 2019 |
| NPHP3-AS1 | 13 | Apr 12, 2019 |
| NPHP4 | 9 | Mar 13, 2019 |
| NPHS1 | 9 | Apr 12, 2019 |
| NPHS2 | 2 | Oct 15, 2019 |
| NPPA | 2 | Jan 29, 2019 |
| NPPA-AS1 | 2 | Jan 29, 2019 |
| NPR2 | 14 | Oct 15, 2019 |
| NPRL3 | 8 | Oct 15, 2019 |
| NR0B1 | 10 | Jan 29, 2019 |
| NR0B2 | 2 | Jan 29, 2019 |
| NR2E3 | 6 | Jan 29, 2019 |
| NR2F1 | 52 | Apr 12, 2019 |
| NR2F2 | 4 | Oct 15, 2019 |
| NR2F2-AS1 | 1 | Jan 29, 2019 |
| NR3C1 | 1 | Dec 21, 2016 |
| NR3C2 | 4 | Oct 15, 2019 |
| NR5A1 | 13 | Oct 15, 2019 |
| NRAS | 50 | Jan 29, 2019 |
| NRG1 | 1 | Jun 21, 2014 |
| NRG3 | 3 | Jun 21, 2014 |
| NRL | 12 | Mar 13, 2019 |
| NRXN1 | 365 | Oct 15, 2019 |
| NRXN2 | 1 | Mar 26, 2018 |
| NRXN3 | 2 | Apr 12, 2019 |
| NSA2 | 1 | Mar 26, 2018 |
| NSD1 | 176 | Nov 14, 2019 |
| NSD2 | 6 | Oct 15, 2019 |
| NSDHL | 4 | Apr 12, 2019 |
| NSMCE2 | 1 | May 15, 2020 |
| NSMF | 11 | Apr 12, 2019 |
| NSUN2 | 8 | Oct 15, 2019 |
| NSUN6 | 69 | Apr 12, 2019 |
| NT5C2 | 21 | Apr 12, 2019 |
| NT5DC1 | 4 | Oct 15, 2019 |
| NTHL1 | 20 | Apr 12, 2019 |
| NTRK1 | 74 | Apr 12, 2019 |
| NTRK2 | 1 | Jan 29, 2019 |
| NUBPL | 46 | Oct 15, 2019 |
| NUDC | 2 | Jan 29, 2019 |
| NUP188 | 4 | Apr 12, 2019 |
| NUS1 | 1 | Oct 15, 2019 |
| NXPH1 | 1 | Jun 21, 2014 |
| NYX | 3 | Jan 29, 2019 |
| OAT | 11 | Apr 12, 2019 |
| OBSL1 | 3 | Jan 29, 2019 |
| OCA2 | 26 | Oct 15, 2019 |
| OCLN | 18 | Oct 15, 2019 |
| OCRL | 19 | Nov 14, 2019 |
| ODAD1 | 4 | Jan 29, 2019 |
| ODAD2 | 3 | Jan 29, 2019 |
| OFD1 | 43 | Nov 19, 2019 |
| OGT | 1 | Apr 12, 2019 |
| OPA1 | 154 | Apr 12, 2019 |
| OPA1-AS1 | 12 | Apr 12, 2019 |
| OPA3 | 22 | Apr 12, 2019 |
| OPHN1 | 30 | Oct 15, 2019 |
| OPLAH | 2 | Jan 29, 2019 |
| OPN1LW | 2 | Jan 29, 2019 |
| OPTC | 1 | Apr 12, 2019 |
| OPTN | 2 | Oct 15, 2019 |
| OR2L13 | 1 | Jun 21, 2014 |
| ORAI1 | 12 | Apr 12, 2019 |
| ORC4 | 4 | Jan 29, 2019 |
| ORC6 | 1 | Feb 7, 2018 |
| OS9 | 1 | Jan 29, 2019 |
| OSBPL2 | 14 | Apr 12, 2019 |
| OSGEP | 2 | Jan 29, 2019 |
| OSGIN2 | 2 | Jan 29, 2019 |
| OSMR | 1 | Jan 29, 2019 |
| OTC | 54 | Oct 15, 2019 |
| OTOA | 24 | Oct 15, 2019 |
| OTOF | 108 | Oct 15, 2019 |
| OTOG | 128 | Oct 15, 2019 |
| OTOGL | 69 | Oct 15, 2019 |
| OTOP2 | 1 | Apr 12, 2019 |
| OTUD6B | 2 | Jan 29, 2019 |
| OTUD7A | 1 | Jun 21, 2014 |
| OTX2 | 6 | Jan 29, 2019 |
| OXCT1 | 1 | Apr 12, 2019 |
| P2RX2 | 18 | Apr 12, 2019 |
| P3H1 | 51 | Oct 15, 2019 |
| P3H2 | 7 | Apr 12, 2019 |
| P3H4 | 1 | Apr 12, 2019 |
| PABPN1 | 3 | Jan 29, 2019 |
| PACRG | 1 | Jun 21, 2014 |
| PACS1 | 3 | Jan 29, 2019 |
| PAFAH1B1 | 37 | Apr 12, 2019 |
| PAGE2B | 2 | Apr 12, 2019 |
| PAH | 86 | Oct 15, 2019 |
| PAK3 | 5 | Jan 29, 2019 |
| PAK6 | 1 | Oct 15, 2019 |
| PALB2 | 731 | Oct 15, 2019 |
| PALLD | 28 | Jan 29, 2019 |
| PALM2AKAP2 | 1 | Jun 21, 2014 |
| PALS1 | 1 | Jun 1, 2020 |
| PANK2 | 8 | Oct 15, 2019 |
| PAPPA2 | 1 | Jun 21, 2014 |
| PARK7 | 1 | Apr 12, 2019 |
| PARN | 5 | Jan 29, 2019 |
| PARS2 | 24 | Apr 12, 2019 |
| PARVB | 1 | Jun 21, 2014 |
| PATJ | 1 | Jun 21, 2014 |
| PAX1 | 1 | Jan 29, 2019 |
| PAX2 | 6 | Oct 15, 2019 |
| PAX3 | 21 | Oct 15, 2019 |
| PAX6 | 53 | Oct 15, 2019 |
| PAX8 | 3 | Jan 29, 2019 |
| PAX8-AS1 | 1 | Jan 29, 2019 |
| PAX9 | 3 | Oct 15, 2019 |
| PBX1 | 3 | Oct 15, 2019 |
| PC | 85 | Apr 12, 2019 |
| PCARE | 6 | Oct 15, 2019 |
| PCCA | 66 | Apr 12, 2019 |
| PCCB | 48 | Apr 12, 2019 |
| PCDH11X | 3 | Jun 21, 2014 |
| PCDH12 | 3 | Oct 15, 2019 |
| PCDH15 | 130 | Oct 15, 2019 |
| PCDH19 | 211 | Oct 15, 2019 |
| PCDH9 | 4 | Jun 21, 2014 |
| PCDHA1 | 1 | Mar 26, 2018 |
| PCDHA10 | 1 | Mar 26, 2018 |
| PCDHA2 | 1 | Mar 26, 2018 |
| PCDHA3 | 1 | Mar 26, 2018 |
| PCDHA4 | 1 | Mar 26, 2018 |
| PCDHA5 | 1 | Mar 26, 2018 |
| PCDHA6 | 1 | Mar 26, 2018 |
| PCDHA7 | 1 | Mar 26, 2018 |
| PCDHA8 | 1 | Mar 26, 2018 |
| PCDHA9 | 1 | Mar 26, 2018 |
| PCDHA@ | 1 | Mar 26, 2018 |
| PCK2 | 9 | Jan 29, 2019 |
| PCLO | 2 | Jan 29, 2019 |
| PCNT | 196 | Oct 15, 2019 |
| PCSK1 | 5 | Jan 29, 2019 |
| PCSK6 | 2 | Mar 26, 2018 |
| PCSK9 | 31 | Apr 12, 2019 |
| PCYT1A | 3 | Jan 29, 2019 |
| PDCD10 | 5 | Jan 29, 2019 |
| PDCD6-AHRR | 1 | Jun 21, 2014 |
| PDE10A | 1 | Feb 7, 2018 |
| PDE11A | 11 | Oct 15, 2019 |
| PDE11A-AS1 | 2 | Oct 15, 2019 |
| PDE1C | 1 | Jun 21, 2014 |
| PDE4B | 2 | Jun 21, 2014 |
| PDE4D | 7 | Jan 29, 2019 |
| PDE6A | 15 | Oct 15, 2019 |
| PDE6B | 26 | Oct 15, 2019 |
| PDE6B-AS1 | 4 | Jan 29, 2019 |
| PDE6C | 1 | Dec 21, 2016 |
| PDE6H | 1 | Jan 29, 2019 |
| 1 | Mar 26, 2018 | |
| PDGFB | 2 | Jan 29, 2019 |
| PDGFRA | 1 | Jan 29, 2019 |
| PDGFRB | 7 | Jan 29, 2019 |
| PDHA1 | 81 | Oct 15, 2019 |
| PDHB | 27 | Apr 12, 2019 |
| PDHX | 67 | Apr 12, 2019 |
| PDK3 | 3 | Mar 26, 2018 |
| PDLIM3 | 79 | Apr 12, 2019 |
| PDP1 | 18 | Apr 12, 2019 |
| PDSS1 | 50 | Apr 12, 2019 |
| PDSS2 | 33 | Apr 12, 2019 |
| PDX1 | 21 | Oct 15, 2019 |
| PDYN | 1 | Jan 29, 2019 |
| PDYN-AS1 | 1 | Jan 29, 2019 |
| PDZD7 | 34 | Oct 15, 2019 |
| PDZD9 | 17 | Apr 12, 2019 |
| PEAK1 | 2 | Jun 21, 2014 |
| PEPD | 3 | Mar 13, 2019 |
| PET100 | 15 | Apr 12, 2019 |
| PEX1 | 18 | Oct 15, 2019 |
| PEX10 | 6 | Apr 12, 2019 |
| PEX11B | 1 | Jan 29, 2019 |
| PEX12 | 5 | Oct 15, 2019 |
| PEX13 | 2 | Jan 29, 2019 |
| PEX14 | 3 | Apr 12, 2019 |
| PEX16 | 5 | Apr 12, 2019 |
| PEX2 | 6 | Apr 12, 2019 |
| PEX26 | 5 | Jan 29, 2019 |
| PEX3 | 1 | Apr 12, 2019 |
| PEX5 | 9 | Mar 13, 2019 |
| PEX6 | 8 | Oct 15, 2019 |
| PEX7 | 22 | Apr 12, 2019 |
| PFKFB1 | 1 | Mar 26, 2018 |
| PFKM | 60 | Apr 12, 2019 |
| PGAM2 | 20 | Apr 12, 2019 |
| PGAP1 | 6 | Oct 15, 2019 |
| PGAP3 | 13 | Oct 15, 2019 |
| PGK1 | 15 | Apr 12, 2019 |
| PGM1 | 51 | Apr 12, 2019 |
| PGM3 | 5 | Apr 12, 2019 |
| PHACTR4 | 1 | Jun 21, 2014 |
| PHEX | 176 | Oct 15, 2019 |
| PHEX-AS1 | 4 | Jan 29, 2019 |
| PHF21A | 2 | Oct 15, 2019 |
| PHF24 | 1 | Jun 21, 2014 |
| PHF3 | 4 | Oct 15, 2019 |
| PHF6 | 12 | Oct 15, 2019 |
| PHF8 | 10 | Oct 15, 2019 |
| PHGDH | 6 | Jan 29, 2019 |
| PHIP | 23 | Oct 15, 2019 |
| PHKA1 | 58 | Apr 12, 2019 |
| PHKA1-AS1 | 2 | Mar 26, 2018 |
| PHKA2 | 67 | Oct 15, 2019 |
| PHKA2-AS1 | 5 | Jan 29, 2019 |
| PHKB | 51 | Oct 15, 2019 |
| PHKG2 | 15 | Mar 26, 2018 |
| PHOX2B | 14 | Apr 12, 2019 |
| PHOX2B-AS1 | 1 | Mar 26, 2018 |
| PHYH | 9 | Apr 12, 2019 |
| PI3 | 1 | Jan 29, 2019 |
| PI4KA | 1 | Jan 29, 2019 |
| PIEZO1 | 22 | Mar 13, 2019 |
| PIEZO2 | 18 | Apr 12, 2019 |
| PIGA | 43 | Oct 15, 2019 |
| PIGG | 7 | Oct 15, 2019 |
| PIGL | 4 | Jan 29, 2019 |
| PIGM | 3 | Jan 29, 2019 |
| PIGN | 28 | Oct 15, 2019 |
| PIGO | 112 | Oct 15, 2019 |
| PIGQ | 3 | Jan 29, 2019 |
| PIGS | 1 | Feb 7, 2018 |
| PIGT | 7 | Jan 29, 2019 |
| PIGV | 48 | Apr 12, 2019 |
| PIGW | 6 | Jan 29, 2019 |
| PIH1D2 | 7 | Apr 12, 2019 |
| PIK3CA | 16 | Jan 29, 2019 |
| PIK3CD | 6 | Jan 29, 2019 |
| PIK3R1 | 12 | Apr 12, 2019 |
| PIK3R2 | 8 | Mar 13, 2019 |
| PIKFYVE | 1 | Jan 29, 2019 |
| PIN4 | 1 | Dec 21, 2016 |
| PINK1 | 6 | Jan 29, 2019 |
| PINK1-AS | 3 | Jan 29, 2019 |
| PIRC66 | 7 | Jan 29, 2019 |
| PITPNM3 | 12 | Apr 12, 2019 |
| PITX1 | 2 | Mar 13, 2019 |
| PITX2 | 2 | Jan 29, 2019 |
| PITX3 | 5 | Apr 12, 2019 |
| PJVK | 7 | Apr 12, 2019 |
| PKD1 | 61 | Oct 15, 2019 |
| PKD2 | 9 | Mar 13, 2019 |
| PKHD1 | 29 | Oct 15, 2019 |
| PKLR | 4 | Jan 29, 2019 |
| PKP1 | 2 | Jan 29, 2019 |
| PKP2 | 256 | Oct 15, 2019 |
| PLA2G6 | 25 | Jan 29, 2019 |
| PLA2G7 | 1 | Jan 29, 2019 |
| PLCB1 | 4 | Apr 12, 2019 |
| PLCB4 | 4 | Jan 29, 2019 |
| PLCD1 | 1 | Mar 26, 2018 |
| PLCE1 | 2 | Jan 29, 2019 |
| PLCG2 | 4 | Jan 29, 2019 |
| PLCH2 | 2 | Jan 29, 2019 |
| PLD3 | 1 | Oct 15, 2019 |
| PLD5 | 1 | Jun 21, 2014 |
| PLEC | 615 | Oct 15, 2019 |
| PLEKHG2 | 1 | Mar 26, 2018 |
| PLEKHG5 | 158 | Oct 15, 2019 |
| PLEKHM1 | 3 | Jan 29, 2019 |
| PLG | 1 | Jan 29, 2019 |
| PLK4 | 1 | Jan 29, 2019 |
| PLN | 20 | Apr 12, 2019 |
| PLOD1 | 96 | Oct 15, 2019 |
| PLOD2 | 28 | Apr 12, 2019 |
| PLOD3 | 1 | Jan 29, 2019 |
| PLP1 | 18 | Oct 15, 2019 |
| PLPBP | 2 | Jan 29, 2019 |
| PLS3 | 15 | Apr 12, 2019 |
| PLUT | 9 | Oct 15, 2019 |
| PLXNB1 | 1 | Mar 26, 2018 |
| PLXNB3 | 1 | Jan 29, 2019 |
| PMM2 | 38 | Apr 12, 2019 |
| PMP22 | 32 | Apr 12, 2019 |
| PMPCA | 1 | Jan 29, 2019 |
| PMS1 | 2 | Feb 7, 2018 |
| PMS2 | 618 | Apr 12, 2019 |
| PNKD | 4 | Jan 29, 2019 |
| PNKP | 241 | Oct 15, 2019 |
| PNLIP | 1 | Jan 29, 2019 |
| PNP | 10 | Jan 29, 2019 |
| PNPLA1 | 4 | Jan 29, 2019 |
| PNPLA2 | 5 | Apr 12, 2019 |
| PNPLA6 | 65 | Oct 15, 2019 |
| PNPLA8 | 2 | Jan 29, 2019 |
| PNPO | 60 | Apr 12, 2019 |
| PNPT1 | 107 | Apr 12, 2019 |
| POC1A | 2 | Jan 29, 2019 |
| POC1B | 2 | Apr 12, 2019 |
| POC5 | 1 | Jan 29, 2019 |
| POF1B | 1 | Jan 29, 2019 |
| POFUT1 | 1 | Apr 12, 2019 |
| POGLUT1 | 1 | Mar 13, 2019 |
| POGZ | 39 | Oct 15, 2019 |
| POLD1 | 560 | Apr 12, 2019 |
| POLE | 802 | Apr 12, 2019 |
| POLG | 484 | Oct 15, 2019 |
| POLG2 | 51 | Apr 12, 2019 |
| POLH | 1 | Jan 29, 2019 |
| POLK | 1 | Apr 12, 2019 |
| POLR1A | 7 | Jan 29, 2019 |
| POLR1C | 4 | Jan 29, 2019 |
| POLR1D | 3 | Jan 29, 2019 |
| POLR2F | 23 | Oct 15, 2019 |
| POLR3A | 23 | Jan 7, 2020 |
| POLR3B | 11 | Oct 15, 2019 |
| POLR3H | 22 | Apr 12, 2019 |
| POMC | 4 | Jan 29, 2019 |
| POMGNT1 | 65 | Apr 12, 2019 |
| POMGNT2 | 35 | Oct 15, 2019 |
| POMK | 15 | Oct 15, 2019 |
| POMP | 1 | Jan 29, 2019 |
| POMT1 | 147 | Oct 15, 2019 |
| POMT2 | 106 | Oct 15, 2019 |
| PON3 | 2 | Jan 29, 2019 |
| POR | 15 | Oct 15, 2019 |
| PORCN | 10 | Oct 15, 2019 |
| POT1 | 59 | Jun 18, 2020 |
| POT1-AS1 | 1 | Jun 21, 2014 |
| POTEI | 11 | Jan 29, 2019 |
| POU1F1 | 4 | Jan 29, 2019 |
| POU3F4 | 5 | Mar 13, 2019 |
| POU4F3 | 10 | Apr 12, 2019 |
| PPA2 | 1 | Mar 13, 2019 |
| PPIB | 15 | Apr 12, 2019 |
| PPM1D | 13 | Oct 15, 2019 |
| PPOX | 3 | Jan 29, 2019 |
| PPP1CB | 8 | Jan 29, 2019 |
| PPP1R12A | 1 | Jan 29, 2019 |
| PPP2CA | 1 | Dec 21, 2016 |
| PPP2R1A | 5 | Jan 29, 2019 |
| PPP2R2B | 2 | Jan 29, 2019 |
| PPP2R5D | 8 | Jan 29, 2019 |
| PPP3CA | 2 | Oct 15, 2019 |
| PPT1 | 81 | Oct 15, 2019 |
| PQBP1 | 17 | Oct 15, 2019 |
| PRDM12 | 2 | Jan 29, 2019 |
| PRDM13 | 2 | Jan 29, 2019 |
| PRDM16 | 224 | Apr 12, 2019 |
| PRDM5 | 54 | Apr 12, 2019 |
| PREPL | 3 | Jan 29, 2019 |
| PRF1 | 6 | Mar 13, 2019 |
| PRH1 | 1 | Jun 21, 2014 |
| PRH1-PRR4 | 1 | Jun 21, 2014 |
| PRH1-TAS2R14 | 1 | Jun 21, 2014 |
| PRICKLE1 | 108 | Apr 12, 2019 |
| PRKAG2 | 143 | Apr 12, 2019 |
| PRKAG2-AS1 | 2 | Apr 12, 2019 |
| PRKAR1A | 40 | Oct 15, 2019 |
| PRKCD | 1 | Dec 21, 2016 |
| PRKCG | 3 | Jan 29, 2019 |
| PRKDC | 51 | Apr 12, 2019 |
| PRKG1 | 110 | Apr 12, 2019 |
| PRKN | 10 | Oct 15, 2019 |
| PRMT7 | 1 | Oct 15, 2019 |
| PRNP | 1 | Jan 29, 2019 |
| PROC | 3 | Jan 29, 2019 |
| PRODH | 2 | Jan 29, 2019 |
| PROK2 | 5 | Apr 12, 2019 |
| PROKR2 | 12 | Jan 29, 2019 |
| PROM1 | 15 | Oct 15, 2019 |
| PROP1 | 2 | Oct 15, 2019 |
| PROS1 | 4 | Jan 29, 2019 |
| PRPF31 | 10 | Mar 13, 2019 |
| PRPF8 | 6 | Jan 29, 2019 |
| PRPH | 1 | Nov 28, 2017 |
| PRPH2 | 20 | Oct 15, 2019 |
| PRPS1 | 19 | Apr 12, 2019 |
| PRRT2 | 92 | Oct 15, 2019 |
| PRSS1 | 3 | Jan 29, 2019 |
| PRSS23 | 10 | Oct 15, 2019 |
| PRSS56 | 5 | Oct 15, 2019 |
| PRUNE1 | 5 | Jan 29, 2019 |
| PRX | 110 | Oct 15, 2019 |
| PSAP | 16 | Apr 12, 2019 |
| PSAT1 | 3 | Jan 29, 2019 |
| PSEN1 | 2 | Jan 29, 2019 |
| PSEN2 | 1 | Jan 29, 2019 |
| PSMB8 | 1 | Jan 29, 2019 |
| PSMC3IP | 2 | Mar 26, 2018 |
| PSMC5 | 1 | Apr 12, 2019 |
| PSMD12 | 4 | Oct 15, 2019 |
| PSORS1C1 | 2 | Jan 29, 2019 |
| PSPH | 1 | Jan 29, 2019 |
| PSTPIP1 | 91 | Apr 12, 2019 |
| PTCH1 | 168 | Oct 15, 2019 |
| PTCH2 | 2 | Jan 29, 2019 |
| PTCHD1 | 12 | Oct 15, 2019 |
| PTCHD1-AS | 77 | Mar 13, 2019 |
| PTDSS1 | 4 | Mar 31, 2020 |
| PTEN | 552 | Oct 15, 2019 |
| PTF1A | 2 | Jan 29, 2019 |
| PTGER3 | 1 | Jun 21, 2014 |
| PTH | 1 | Jan 29, 2019 |
| PTPN11 | 205 | Jun 24, 2019 |
| PTPN23 | 2 | Jan 29, 2019 |
| PTPN4 | 5 | Nov 17, 2020 |
| PTPRC | 27 | Jan 29, 2019 |
| PTPRD | 4 | Jun 21, 2014 |
| PTPRM | 1 | Jun 21, 2014 |
| PTPRO | 1 | Apr 12, 2019 |
| PTPRQ | 19 | Oct 15, 2019 |
| PTPRT | 4 | Jun 21, 2014 |
| PTRH2 | 13 | Jan 29, 2019 |
| PTS | 6 | Oct 15, 2019 |
| PUDP | 3 | Jun 21, 2014 |
| PUF60 | 9 | Oct 15, 2019 |
| PURA | 49 | Oct 15, 2019 |
| PUS1 | 51 | Apr 12, 2019 |
| PXDN | 8 | Apr 12, 2019 |
| PYCR1 | 29 | Apr 12, 2019 |
| PYCR2 | 5 | Oct 15, 2019 |
| PYGL | 3 | Mar 13, 2019 |
| PYGM | 117 | Oct 15, 2019 |
| PYROXD1 | 8 | Apr 12, 2019 |
| PYY | 17 | Jan 29, 2019 |
| QARS1 | 102 | Jan 29, 2019 |
| QDPR | 4 | Jan 29, 2019 |
| RAB18 | 12 | Apr 12, 2019 |
| RAB23 | 2 | Jan 29, 2019 |
| RAB27A | 3 | Jan 29, 2019 |
| RAB33A | 45 | Apr 12, 2019 |
| RAB39B | 1 | Jan 29, 2019 |
| RAB3GAP1 | 48 | Oct 15, 2019 |
| RAB3GAP2 | 54 | Apr 12, 2019 |
| RAB7A | 21 | Apr 12, 2019 |
| RAB9B | 18 | Oct 15, 2019 |
| RABGEF1 | 1 | Jun 21, 2014 |
| RAC1 | 2 | Oct 15, 2019 |
| RAC2 | 7 | Jan 29, 2019 |
| RAD21 | 21 | Apr 12, 2019 |
| RAD21-AS1 | 1 | Mar 26, 2018 |
| RAD50 | 49 | Mar 13, 2019 |
| RAD51 | 1 | Jan 29, 2019 |
| RAD51C | 226 | Oct 15, 2019 |
| RAD51D | 215 | Oct 15, 2019 |
| RAD51L3-RFFL | 215 | Oct 15, 2019 |
| RAF1 | 157 | Jun 24, 2019 |
| RAG1 | 27 | Oct 15, 2019 |
| RAG2 | 13 | Jan 29, 2019 |
| RAI1 | 32 | Oct 15, 2019 |
| RANBP2 | 84 | Apr 12, 2019 |
| RANGRF | 23 | Jan 29, 2019 |
| RAP1B | 1 | Jan 29, 2019 |
| RAPGEF4 | 1 | Mar 26, 2018 |
| RAPSN | 25 | Apr 12, 2019 |
| RARB | 6 | Jan 29, 2019 |
| RARS1 | 66 | Apr 12, 2019 |
| RARS2 | 95 | Apr 12, 2019 |
| RASA1 | 42 | Oct 15, 2019 |
| RASA3 | 2 | Jun 21, 2014 |
| RAX | 1 | Mar 26, 2018 |
| RAX2 | 2 | Apr 12, 2019 |
| RB1 | 40 | Apr 12, 2019 |
| RBBP8 | 27 | Apr 12, 2019 |
| RBCK1 | 5 | Jan 29, 2019 |
| RBFOX1 | 21 | Jan 29, 2019 |
| RBFOX2 | 2 | Jan 29, 2019 |
| RBM10 | 8 | Oct 15, 2019 |
| RBM20 | 207 | Apr 12, 2019 |
| RBMX | 1 | Mar 26, 2018 |
| RBP3 | 4 | Jan 29, 2019 |
| RBPJ | 1 | Jan 29, 2019 |
| RD3 | 1 | Jan 29, 2019 |
| RDH12 | 2 | Oct 15, 2019 |
| RDH5 | 6 | Apr 12, 2019 |
| RDX | 6 | Apr 12, 2019 |
| RECQL | 80 | Apr 12, 2019 |
| RECQL4 | 23 | Oct 15, 2019 |
| REEP1 | 38 | Apr 12, 2019 |
| REEP6 | 1 | Jan 29, 2019 |
| RELB | 1 | Mar 26, 2018 |
| RELN | 209 | Apr 12, 2019 |
| RERE | 17 | Oct 15, 2019 |
| REST | 1 | Mar 13, 2019 |
| RET | 129 | Apr 12, 2019 |
| RETREG1 | 46 | Apr 12, 2019 |
| RETREG3 | 1 | Apr 12, 2019 |
| RFT1 | 25 | Oct 15, 2019 |
| RGR | 2 | Jan 29, 2019 |
| RGS2 | 1 | Dec 21, 2016 |
| RGS6 | 3 | Apr 12, 2019 |
| RGS9 | 1 | Jan 29, 2019 |
| RHBDD1 | 1 | Jun 21, 2014 |
| RHO | 12 | Oct 15, 2019 |
| RIF1 | 113 | Apr 12, 2019 |
| RIMS1 | 10 | Apr 12, 2019 |
| RIMS2 | 1 | Dec 21, 2016 |
| RIN2 | 85 | Apr 12, 2019 |
| RIPOR2 | 34 | Apr 12, 2019 |
| RIT1 | 48 | Jan 29, 2019 |
| RLBP1 | 3 | Jan 29, 2019 |
| RLIM | 3 | Apr 12, 2019 |
| RMND1 | 44 | Apr 12, 2019 |
| RMRP | 20 | Mar 26, 2018 |
| RNASEH1 | 13 | Oct 15, 2019 |
| RNASEH1-AS1 | 2 | Apr 12, 2019 |
| RNASEH2A | 3 | Jan 29, 2019 |
| RNASEH2B | 11 | Jan 29, 2019 |
| RNASEH2B-AS1 | 2 | Jan 29, 2019 |
| RNASEH2C | 4 | Jan 29, 2019 |
| RNF113A | 1 | Jan 29, 2019 |
| RNF128 | 1 | Apr 12, 2019 |
| RNF168 | 1 | Jan 29, 2019 |
| RNF17 | 14 | Apr 12, 2019 |
| RNF213 | 4 | Jan 29, 2019 |
| RNF213-AS1 | 2 | Jan 29, 2019 |
| RNF216 | 2 | Oct 15, 2019 |
| RNF220 | 1 | Jun 21, 2014 |
| RNLS | 1 | Apr 12, 2019 |
| ROBO1 | 1 | Jun 21, 2014 |
| ROBO2 | 3 | Mar 26, 2018 |
| ROBO3 | 3 | Jan 29, 2019 |
| ROGDI | 1 | Jan 29, 2019 |
| ROM1 | 3 | Jan 29, 2019 |
| ROMO1 | 4 | Mar 26, 2018 |
| ROR2 | 5 | Oct 15, 2019 |
| RORA | 1 | Oct 15, 2019 |
| RORA-AS1 | 1 | Oct 15, 2019 |
| RP1 | 19 | Mar 13, 2019 |
| RP1L1 | 7 | Mar 13, 2019 |
| RP2 | 4 | Jan 29, 2019 |
| RP9 | 2 | Jan 29, 2019 |
| RPE65 | 12 | Jan 29, 2019 |
| RPGR | 21 | Oct 15, 2019 |
| RPGRIP1 | 13 | Apr 12, 2019 |
| RPGRIP1L | 71 | Apr 12, 2019 |
| RPH3AL | 2 | Jun 21, 2014 |
| RPL10 | 1 | Jan 29, 2019 |
| RPL11 | 7 | Nov 19, 2019 |
| RPL15 | 2 | Jan 29, 2019 |
| RPL26 | 1 | Mar 26, 2018 |
| RPL35A | 2 | Mar 26, 2018 |
| RPL36A-HNRNPH2 | 98 | Oct 15, 2019 |
| RPL5 | 8 | Oct 15, 2019 |
| RPL6 | 1 | Sep 14, 2018 |
| RPN2 | 1 | Apr 12, 2019 |
| RPS10 | 3 | Mar 26, 2018 |
| RPS10-NUDT3 | 3 | Mar 26, 2018 |
| RPS17 | 3 | Jan 29, 2019 |
| RPS19 | 15 | Jan 29, 2019 |
| RPS24 | 5 | Jan 29, 2019 |
| RPS26 | 5 | Jan 29, 2019 |
| RPS28 | 1 | Apr 12, 2019 |
| RPS29 | 3 | Jan 29, 2019 |
| RPS6KA3 | 25 | Oct 15, 2019 |
| RPS7 | 4 | Jan 29, 2019 |
| RPSA | 3 | Jan 29, 2019 |
| RRAGA | 1 | Apr 12, 2019 |
| RRM2B | 45 | Oct 15, 2019 |
| RRP8 | 2 | Apr 12, 2019 |
| RS1 | 54 | Apr 12, 2019 |
| RSPH9 | 2 | Jan 29, 2019 |
| RTEL1 | 5 | Jan 29, 2019 |
| RTEL1-TNFRSF6B | 5 | Jan 29, 2019 |
| RTN2 | 22 | Apr 12, 2019 |
| RTTN | 116 | Oct 15, 2019 |
| RUNX1 | 3 | Jun 28, 2019 |
| RUNX2 | 3 | Jan 29, 2019 |
| RUSC2 | 1 | Mar 26, 2018 |
| RUVBL1 | 1 | Jan 29, 2019 |
| RXYLT1 | 33 | Oct 15, 2019 |
| RXYLT1-AS1 | 5 | Jan 29, 2019 |
| RYR1 | 630 | Oct 15, 2019 |
| RYR2 | 884 | Apr 12, 2019 |
| RYR3 | 3 | Jan 29, 2019 |
| S100PBP | 6 | Apr 12, 2019 |
| S1PR2 | 10 | Apr 12, 2019 |
| SACS | 38 | Oct 15, 2019 |
| SAFB | 1 | Jan 29, 2019 |
| SAG | 2 | Apr 12, 2019 |
| SALL1 | 26 | Oct 15, 2019 |
| SALL4 | 11 | Apr 12, 2019 |
| SAMD12 | 2 | Jun 21, 2014 |
| SAMD9 | 6 | Oct 15, 2019 |
| SAMD9L | 2 | Jan 29, 2019 |
| SAMHD1 | 5 | Jan 29, 2019 |
| SAMSN1 | 1 | Jun 21, 2014 |
| SAR1B | 1 | Oct 15, 2019 |
| SARM1 | 1 | Nov 28, 2017 |
| SARS2 | 64 | Apr 12, 2019 |
| SASH3 | 1 | Dec 21, 2016 |
| SATB2 | 39 | Oct 15, 2019 |
| SBDS | 15 | Jan 29, 2019 |
| SBF1 | 6 | Oct 15, 2019 |
| SBF2 | 138 | Apr 12, 2019 |
| SBF2-AS1 | 40 | Apr 12, 2019 |
| SBNO2 | 1 | Jun 21, 2014 |
| SC5D | 1 | Apr 12, 2019 |
| SCAMP4 | 7 | Jan 29, 2019 |
| SCAPER | 1 | Mar 13, 2019 |
| SCARB2 | 97 | Apr 12, 2019 |
| SCARF2 | 2 | Jan 29, 2019 |
| SCN10A | 207 | Apr 12, 2019 |
| SCN11A | 9 | Jan 29, 2019 |
| SCN1A | 742 | Oct 15, 2019 |
| SCN1A-AS1 | 109 | Apr 12, 2019 |
| SCN1B | 129 | Apr 12, 2019 |
| SCN2A | 424 | Oct 15, 2019 |
| SCN2B | 27 | Apr 12, 2019 |
| SCN3A | 14 | Jan 29, 2019 |
| SCN3B | 41 | Apr 12, 2019 |
| SCN4A | 185 | Apr 12, 2019 |
| SCN4B | 42 | Apr 12, 2019 |
| SCN5A | 632 | Oct 15, 2019 |
| SCN8A | 253 | Oct 15, 2019 |
| SCN9A | 130 | Oct 15, 2019 |
| SCNN1A | 3 | Jan 29, 2019 |
| SCNN1B | 3 | Jan 29, 2019 |
| SCNN1G | 3 | Oct 15, 2019 |
| SCO1 | 28 | Apr 12, 2019 |
| SCO2 | 53 | Oct 15, 2019 |
| SCP2 | 2 | Apr 12, 2019 |
| SCYL1 | 1 | Jan 29, 2019 |
| SDCCAG8 | 7 | Jan 29, 2019 |
| SDHA | 83 | Oct 15, 2019 |
| SDHAF1 | 9 | Jan 29, 2019 |
| SDHAF2 | 13 | Jan 29, 2019 |
| SDHB | 67 | Sep 23, 2020 |
| SDHC | 26 | Apr 12, 2019 |
| SDHD | 24 | Apr 12, 2019 |
| SDK1 | 1 | Jul 13, 2016 |
| SDR9C7 | 2 | Oct 15, 2019 |
| SEC23A | 2 | Apr 12, 2019 |
| SEC23B | 4 | Apr 12, 2019 |
| SEC61A1 | 1 | Jan 29, 2019 |
| SECISBP2 | 2 | Jan 29, 2019 |
| SELENON | 89 | Apr 12, 2019 |
| SEMA3A | 2 | Jan 29, 2019 |
| SEMA3E | 2 | Jan 29, 2019 |
| SEMA4A | 5 | Apr 12, 2019 |
| SEMA5A | 2 | Jan 29, 2019 |
| SEMA6D | 1 | Jan 29, 2019 |
| SEPSECS | 25 | Oct 15, 2019 |
| SEPTIN9 | 3 | Nov 28, 2017 |
| SERAC1 | 65 | Apr 12, 2019 |
| SERPINA1 | 6 | Jan 29, 2019 |
| SERPINA3 | 2 | Jan 29, 2019 |
| SERPINA6 | 2 | Jan 29, 2019 |
| SERPINA7 | 1 | Jan 29, 2019 |
| SERPINB6 | 15 | Apr 12, 2019 |
| SERPINB7 | 2 | Jan 29, 2019 |
| SERPINC1 | 3 | Jan 29, 2019 |
| SERPIND1 | 1 | Jan 29, 2019 |
| SERPINF1 | 26 | Apr 12, 2019 |
| SERPING1 | 25 | Oct 15, 2019 |
| SERPINH1 | 15 | Apr 12, 2019 |
| SET | 3 | Oct 15, 2019 |
| SETBP1 | 22 | Oct 15, 2019 |
| SETD1A | 2 | Apr 12, 2019 |
| SETD1B | 1 | Oct 15, 2019 |
| SETD2 | 15 | Oct 15, 2019 |
| SETD5 | 41 | Oct 15, 2019 |
| SETX | 20 | Oct 15, 2019 |
| SF3B4 | 4 | Jan 29, 2019 |
| SFRP1 | 1 | Jan 29, 2019 |
| SFTA3 | 13 | Oct 15, 2019 |
| SFTPA1 | 1 | Dec 21, 2016 |
| SFTPC | 7 | Apr 12, 2019 |
| SFXN4 | 46 | Apr 12, 2019 |
| SGCA | 55 | Oct 15, 2019 |
| SGCB | 25 | Apr 12, 2019 |
| SGCD | 68 | Apr 12, 2019 |
| SGCE | 12 | Oct 15, 2019 |
| SGCG | 39 | Apr 12, 2019 |
| SGCZ | 2 | Jun 21, 2014 |
| SGSH | 27 | Apr 12, 2019 |
| SH2B3 | 1 | Mar 26, 2018 |
| SH2D1A | 2 | Apr 12, 2019 |
| SH2D2A | 4 | Apr 12, 2019 |
| SH3BP2 | 4 | Jan 29, 2019 |
| SH3KBP1 | 1 | Jun 21, 2014 |
| SH3PXD2B | 4 | Apr 12, 2019 |
| SH3TC2 | 120 | Apr 12, 2019 |
| SH3TC2-DT | 1 | Apr 12, 2019 |
| SHANK1 | 1 | Mar 26, 2018 |
| SHANK2 | 15 | Oct 15, 2019 |
| SHANK3 | 52 | Oct 15, 2019 |
| SHH | 25 | Oct 15, 2019 |
| SHLD2 | 2 | Apr 12, 2019 |
| SHOC2 | 47 | Jan 29, 2019 |
| SHROOM4 | 5 | Jan 29, 2019 |
| SI | 8 | Jan 29, 2019 |
| SIAE | 1 | Jan 29, 2019 |
| SIK1 | 1 | Jan 29, 2019 |
| SIL1 | 43 | Apr 12, 2019 |
| SIM1 | 5 | Jan 29, 2019 |
| SIN3A | 17 | Oct 15, 2019 |
| SIPA1L3 | 9 | Apr 12, 2019 |
| SIX1 | 8 | Apr 12, 2019 |
| SIX2 | 1 | Jan 29, 2019 |
| SIX3 | 11 | Apr 12, 2019 |
| SIX5 | 19 | Apr 12, 2019 |
| SIX6 | 1 | Jan 29, 2019 |
| SKI | 152 | Apr 12, 2019 |
| SKIV2L | 3 | Oct 15, 2019 |
| SLC12A1 | 2 | Jan 29, 2019 |
| SLC12A3 | 14 | Oct 15, 2019 |
| SLC12A5 | 3 | Jan 29, 2019 |
| SLC12A6 | 80 | Apr 12, 2019 |
| SLC13A5 | 134 | Apr 12, 2019 |
| SLC16A1 | 1 | Jan 29, 2019 |
| SLC16A12 | 1 | Apr 12, 2019 |
| SLC16A12-AS1 | 1 | Apr 12, 2019 |
| SLC16A2 | 13 | Oct 15, 2019 |
| SLC17A5 | 33 | Apr 12, 2019 |
| SLC17A8 | 17 | Oct 15, 2019 |
| SLC18A2 | 1 | Mar 26, 2018 |
| SLC18A3 | 3 | Jan 29, 2019 |
| SLC19A1 | 7 | Jan 29, 2019 |
| SLC19A2 | 33 | Apr 12, 2019 |
| SLC19A3 | 64 | Oct 15, 2019 |
| SLC1A1 | 1 | Jan 29, 2019 |
| SLC1A3 | 3 | Jan 29, 2019 |
| SLC1A4 | 2 | Jan 29, 2019 |
| SLC20A2 | 10 | Oct 15, 2019 |
| SLC22A5 | 84 | Apr 12, 2019 |
| SLC24A5 | 4 | Oct 15, 2019 |
| SLC25A1 | 22 | Apr 12, 2019 |
| SLC25A12 | 2 | Jan 29, 2019 |
| SLC25A13 | 22 | Apr 12, 2019 |
| SLC25A15 | 27 | Apr 12, 2019 |
| SLC25A19 | 22 | Apr 12, 2019 |
| SLC25A20 | 27 | Apr 12, 2019 |
| SLC25A22 | 127 | Apr 12, 2019 |
| SLC25A26 | 44 | Apr 12, 2019 |
| SLC25A3 | 27 | Apr 12, 2019 |
| SLC25A35 | 23 | Jan 29, 2019 |
| SLC25A38 | 24 | Apr 12, 2019 |
| SLC25A4 | 26 | Apr 12, 2019 |
| SLC25A46 | 18 | Apr 12, 2019 |
| SLC26A1 | 5 | Oct 15, 2019 |
| SLC26A11 | 2 | Apr 12, 2019 |
| SLC26A2 | 20 | Apr 12, 2019 |
| SLC26A3 | 3 | Nov 19, 2019 |
| SLC26A4 | 60 | Oct 15, 2019 |
| SLC26A4-AS1 | 4 | Jan 29, 2019 |
| SLC26A5 | 13 | Apr 12, 2019 |
| SLC29A3 | 4 | Jan 29, 2019 |
| SLC29A4 | 1 | Jan 29, 2019 |
| SLC2A1 | 192 | Oct 15, 2019 |
| SLC2A1-AS1 | 2 | Apr 12, 2019 |
| SLC2A10 | 125 | Apr 12, 2019 |
| SLC2A13 | 1 | Jun 21, 2014 |
| SLC2A2 | 21 | Apr 12, 2019 |
| SLC33A1 | 4 | Apr 12, 2019 |
| SLC34A1 | 5 | Jan 29, 2019 |
| SLC34A3 | 6 | Jan 29, 2019 |
| SLC35A1 | 16 | Apr 12, 2019 |
| SLC35A2 | 22 | Oct 15, 2019 |
| SLC35A3 | 1 | Apr 12, 2019 |
| SLC35C1 | 15 | Jan 29, 2019 |
| SLC36A2 | 1 | Mar 26, 2018 |
| SLC37A4 | 38 | Oct 15, 2019 |
| SLC38A8 | 5 | Oct 15, 2019 |
| SLC39A11 | 1 | Jun 21, 2014 |
| SLC39A13 | 45 | Apr 12, 2019 |
| SLC39A14 | 1 | Jan 29, 2019 |
| SLC39A4 | 3 | Jan 29, 2019 |
| SLC39A8 | 9 | Apr 12, 2019 |
| SLC3A1 | 1 | Jan 29, 2019 |
| SLC40A1 | 2 | Jan 29, 2019 |
| SLC44A5 | 1 | Apr 12, 2019 |
| SLC45A1 | 2 | Jan 29, 2019 |
| SLC45A2 | 6 | Oct 15, 2019 |
| SLC46A1 | 2 | Mar 26, 2018 |
| SLC4A1 | 4 | Mar 13, 2019 |
| SLC52A1 | 2 | Apr 12, 2019 |
| SLC52A2 | 46 | Apr 12, 2019 |
| SLC52A3 | 8 | Apr 12, 2019 |
| SLC5A2 | 1 | Jan 29, 2019 |
| SLC5A7 | 1 | Jan 29, 2019 |
| SLC66A2 | 1 | Jun 21, 2014 |
| SLC6A1 | 30 | Oct 15, 2019 |
| SLC6A1-AS1 | 11 | Jan 29, 2019 |
| SLC6A19 | 5 | Jan 29, 2019 |
| SLC6A2 | 1 | Jan 29, 2019 |
| SLC6A3 | 3 | Oct 15, 2019 |
| SLC6A5 | 4 | Jan 29, 2019 |
| SLC6A8 | 136 | Oct 15, 2019 |
| SLC6A9 | 2 | Jan 29, 2019 |
| SLC7A14 | 1 | Mar 26, 2018 |
| SLC7A14-AS1 | 1 | Mar 26, 2018 |
| SLC7A7 | 37 | Apr 12, 2019 |
| SLC7A9 | 3 | Jan 29, 2019 |
| SLC9A3R1 | 2 | Jan 29, 2019 |
| SLC9A6 | 86 | Apr 12, 2019 |
| SLC9A7 | 1 | Jul 13, 2018 |
| SLC9A9 | 3 | Jan 29, 2019 |
| SLC9B1 | 2 | Mar 26, 2018 |
| SLCO1B1 | 2 | Apr 12, 2019 |
| SLCO2A1 | 1 | Mar 13, 2019 |
| SLCO6A1 | 1 | Jun 21, 2014 |
| SLFN14 | 2 | Jan 29, 2019 |
| SLITRK6 | 13 | Apr 12, 2019 |
| SLMAP | 2 | Mar 26, 2018 |
| SLMO2-ATP5E | 11 | Apr 12, 2019 |
| SLURP1 | 2 | Jan 29, 2019 |
| SLX4 | 9 | Jan 29, 2019 |
| SMAD2 | 5 | Oct 15, 2019 |
| SMAD3 | 129 | Oct 15, 2019 |
| SMAD4 | 176 | Apr 12, 2019 |
| SMAD6 | 3 | Mar 13, 2019 |
| SMAD9 | 14 | Apr 12, 2019 |
| SMARCA1 | 1 | Mar 26, 2018 |
| SMARCA2 | 22 | Oct 15, 2019 |
| SMARCA4 | 181 | Apr 12, 2019 |
| SMARCAD1 | 1 | Dec 21, 2016 |
| SMARCAL1 | 6 | Sep 10, 2020 |
| SMARCB1 | 47 | Apr 12, 2019 |
| SMARCE1 | 7 | Jan 29, 2019 |
| SMC1A | 18 | May 21, 2020 |
| SMC3 | 29 | Apr 12, 2019 |
| SMCHD1 | 4 | Jan 29, 2019 |
| SMG6 | 1 | Jun 21, 2014 |
| SMO | 1 | Mar 26, 2018 |
| SMOC1 | 1 | Jan 29, 2019 |
| SMOC2 | 2 | Jan 29, 2019 |
| SMPD1 | 17 | Apr 12, 2019 |
| SMPX | 1 | Apr 12, 2019 |
| SMS | 4 | Jan 29, 2019 |
| SMYD3 | 2 | Jun 21, 2014 |
| SNAI2 | 3 | Apr 12, 2019 |
| SNAP29 | 7 | Mar 13, 2019 |
| SNAPC5 | 7 | Jan 29, 2019 |
| SNED1 | 1 | Apr 12, 2019 |
| SNHG10 | 1 | Apr 12, 2019 |
| SNHG14 | 124 | Oct 15, 2019 |
| SNHG22 | 1 | Mar 13, 2019 |
| SNHG31 | 8 | Jan 29, 2019 |
| SNRNP200 | 5 | Jan 29, 2019 |
| SNRPB | 1 | Nov 28, 2017 |
| SNRPN | 4 | Jan 29, 2019 |
| SNTA1 | 100 | Apr 12, 2019 |
| SNTG1 | 3 | Jun 21, 2014 |
| SNTG2 | 1 | Jun 21, 2014 |
| SNURF | 1 | Jan 29, 2019 |
| SNX10 | 1 | Jan 29, 2019 |
| SNX14 | 5 | Oct 15, 2019 |
| SNX22 | 5 | Apr 12, 2019 |
| SOCS1 | 1 | Jan 29, 2019 |
| SOD1 | 5 | Jan 29, 2019 |
| SOHLH1 | 1 | Apr 12, 2019 |
| SON | 32 | Oct 15, 2019 |
| SORBS2 | 1 | Jun 21, 2014 |
| SORCS1 | 1 | Jun 21, 2014 |
| SORCS3 | 1 | Jun 21, 2014 |
| SORL1 | 4 | Jan 29, 2019 |
| SOS1 | 232 | Jun 24, 2019 |
| SOS2 | 123 | Jan 29, 2019 |
| SOX10 | 23 | Oct 15, 2019 |
| SOX11 | 5 | Jan 29, 2019 |
| SOX17 | 2 | Oct 15, 2019 |
| SOX2 | 17 | Apr 12, 2019 |
| SOX2-OT | 17 | Apr 12, 2019 |
| SOX5 | 6 | Oct 15, 2019 |
| SOX6 | 2 | Jan 29, 2019 |
| SOX9 | 36 | Oct 15, 2019 |
| SP110 | 2 | Oct 15, 2019 |
| SP140 | 1 | Jan 29, 2019 |
| SP7 | 6 | Apr 12, 2019 |
| SPAG16 | 1 | Jun 21, 2014 |
| SPAG8 | 4 | Jan 29, 2019 |
| SPART | 12 | Oct 15, 2019 |
| SPAST | 76 | Oct 15, 2019 |
| SPATA22 | 8 | Jan 29, 2019 |
| SPATA5 | 18 | Oct 15, 2019 |
| SPATA5L1 | 1 | Jan 29, 2019 |
| SPATA6L | 1 | Jan 29, 2019 |
| SPATA7 | 4 | Jan 29, 2019 |
| SPECC1 | 1 | Jun 21, 2014 |
| SPECC1L | 1 | Jan 29, 2019 |
| SPECC1L-ADORA2A | 1 | Jan 29, 2019 |
| SPEG | 12 | Oct 15, 2019 |
| SPG11 | 89 | Oct 15, 2019 |
| SPG21 | 7 | Apr 12, 2019 |
| SPG7 | 155 | Oct 15, 2019 |
| SPIDR | 2 | Jun 21, 2014 |
| SPINK1 | 1 | Jun 26, 2018 |
| SPINK5 | 104 | Oct 15, 2019 |
| SPOCK1 | 2 | Jun 21, 2014 |
| SPR | 5 | Jan 29, 2019 |
| SPRED1 | 58 | Oct 15, 2019 |
| SPRYD4 | 1 | Apr 12, 2019 |
| SPTA1 | 8 | Jan 29, 2019 |
| SPTAN1 | 462 | Apr 12, 2019 |
| SPTB | 1 | Nov 28, 2017 |
| SPTBN1 | 1 | Jan 29, 2019 |
| SPTBN2 | 17 | Mar 13, 2019 |
| SPTBN4 | 1 | Mar 13, 2019 |
| SPTLC1 | 42 | Apr 12, 2019 |
| SPTLC2 | 69 | Jan 6, 2020 |
| SQSTM1 | 11 | Jan 29, 2019 |
| SRCAP | 19 | Oct 15, 2019 |
| SRCIN1 | 1 | Apr 12, 2019 |
| SRD5A2 | 7 | Jan 29, 2019 |
| SRD5A3 | 21 | Apr 12, 2019 |
| SRD5A3-AS1 | 7 | Apr 12, 2019 |
| SRFBP1 | 2 | Jan 29, 2019 |
| SRGAP2B | 1 | Jun 21, 2014 |
| SRGAP2C | 1 | Jun 21, 2014 |
| SRP72 | 2 | Jan 29, 2019 |
| SRPX2 | 47 | Apr 12, 2019 |
| SRSF1 | 1 | Jan 29, 2019 |
| SRSF2 | 1 | Jan 29, 2019 |
| SSBP2 | 1 | Dec 21, 2016 |
| SSR4 | 14 | Jan 29, 2019 |
| SSUH2 | 28 | Apr 12, 2019 |
| ST14 | 2 | Oct 15, 2019 |
| ST3GAL3 | 3 | Jan 29, 2019 |
| ST3GAL4 | 4 | Jan 29, 2019 |
| ST3GAL5 | 1 | Jan 29, 2019 |
| ST6GALNAC3 | 1 | Jun 21, 2014 |
| STAG1 | 5 | Oct 15, 2019 |
| STAG2 | 1 | Mar 26, 2018 |
| STAG3 | 2 | Jan 29, 2019 |
| STAMBP | 7 | Oct 15, 2019 |
| STAR | 1 | Mar 26, 2018 |
| STAT1 | 11 | Apr 12, 2019 |
| STAT3 | 61 | Apr 12, 2019 |
| STEAP2-AS1 | 1 | Jun 21, 2014 |
| STIL | 38 | Oct 15, 2019 |
| STIM1 | 18 | Apr 12, 2019 |
| STING1 | 1 | Jan 29, 2019 |
| STK11 | 335 | Apr 12, 2019 |
| STON1-GTF2A1L | 7 | Jan 29, 2019 |
| STRA6 | 11 | Oct 15, 2019 |
| STRADA | 1 | Jan 29, 2019 |
| STRC | 14 | Oct 15, 2019 |
| STRN3 | 1 | Mar 26, 2018 |
| STRN4 | 5 | Mar 26, 2018 |
| STS | 3 | Jan 29, 2019 |
| STT3A | 23 | Apr 12, 2019 |
| STT3B | 26 | Apr 12, 2019 |
| STUB1 | 1 | Jan 29, 2019 |
| STX11 | 1 | Jan 29, 2019 |
| STX16 | 1 | Jan 29, 2019 |
| STX16-NPEPL1 | 1 | Jan 29, 2019 |
| STX1B | 8 | Oct 15, 2019 |
| STX8 | 1 | Jun 21, 2014 |
| STXBP1 | 249 | Oct 15, 2019 |
| STXBP2 | 2 | Jan 29, 2019 |
| STYXL1 | 1 | Apr 12, 2019 |
| SUCLA2 | 68 | Oct 15, 2019 |
| SUCLA2-AS1 | 2 | Apr 12, 2019 |
| SUCLG1 | 39 | Apr 12, 2019 |
| SUFU | 27 | Oct 15, 2019 |
| SUGCT | 2 | Jan 29, 2019 |
| SUGP1 | 1 | Jan 29, 2019 |
| SUMF1 | 11 | Apr 12, 2019 |
| SUPT6H | 1 | Apr 12, 2019 |
| SURF1 | 59 | Apr 12, 2019 |
| SUZ12 | 4 | May 21, 2019 |
| SYCE2 | 5 | Jan 29, 2019 |
| SYN1 | 39 | Oct 15, 2019 |
| SYN2 | 3 | Jan 29, 2019 |
| SYNE1 | 732 | Oct 15, 2019 |
| SYNE1-AS1 | 5 | Apr 12, 2019 |
| SYNE2 | 5 | Jan 29, 2019 |
| SYNE4 | 19 | Apr 12, 2019 |
| SYNGAP1 | 41 | Oct 15, 2019 |
| SYNJ1 | 3 | Jan 29, 2019 |
| SYNM | 1 | Mar 26, 2018 |
| SYT14 | 1 | Jan 29, 2019 |
| SYT2 | 2 | Jan 29, 2019 |
| SZT2 | 18 | Oct 15, 2019 |
| TAB2 | 9 | Jan 29, 2019 |
| TAC3 | 5 | Apr 12, 2019 |
| TACO1 | 20 | Oct 15, 2019 |
| TACR3 | 18 | Oct 15, 2019 |
| TAF1 | 15 | Jan 29, 2019 |
| TAF10 | 45 | Apr 12, 2019 |
| TAF15 | 1 | Apr 12, 2019 |
| TAF6 | 3 | Jan 29, 2019 |
| TAFA5 | 1 | Jun 21, 2014 |
| TALDO1 | 5 | Oct 15, 2019 |
| TANC1 | 1 | Jun 21, 2014 |
| TANGO2 | 18 | Oct 15, 2019 |
| TAPBPL | 2 | Jan 29, 2019 |
| TARDBP | 2 | Jan 29, 2019 |
| TARID | 3 | Jan 29, 2019 |
| TARS2 | 51 | Apr 12, 2019 |
| TAT | 5 | Mar 13, 2019 |
| TAT-AS1 | 2 | Mar 13, 2019 |
| TATDN1 | 11 | Apr 12, 2019 |
| TAZ | 52 | Apr 12, 2019 |
| TBC1D20 | 18 | Apr 12, 2019 |
| TBC1D24 | 158 | Oct 15, 2019 |
| TBCD | 13 | Oct 15, 2019 |
| TBCE | 3 | Jan 29, 2019 |
| TBCEL-TECTA | 53 | Apr 12, 2019 |
| TBCK | 9 | Oct 15, 2019 |
| TBK1 | 8 | Apr 12, 2019 |
| TBL1XR1 | 20 | Oct 15, 2019 |
| TBR1 | 3 | Oct 15, 2019 |
| TBX1 | 28 | Oct 15, 2019 |
| TBX18 | 3 | Jan 29, 2019 |
| TBX19 | 2 | Jan 29, 2019 |
| TBX20 | 3 | Jan 29, 2019 |
| TBX22 | 2 | Jan 29, 2019 |
| TBX4 | 5 | Oct 15, 2019 |
| TBX5 | 36 | Oct 15, 2019 |
| TBX6 | 1 | Jan 29, 2019 |
| TBXA2R | 1 | Jan 29, 2019 |
| TBXAS1 | 3 | Jan 29, 2019 |
| TBXT | 2 | Jan 29, 2019 |
| TCAP | 39 | Apr 12, 2019 |
| TCF12 | 8 | Oct 15, 2019 |
| TCF20 | 29 | Nov 20, 2020 |
| TCF4 | 172 | Oct 15, 2019 |
| TCF4-AS1 | 8 | Apr 12, 2019 |
| TCIRG1 | 1 | Jan 29, 2019 |
| TCN2 | 1 | Jan 29, 2019 |
| TCOF1 | 36 | Oct 15, 2019 |
| TCTN1 | 31 | Apr 12, 2019 |
| TCTN2 | 59 | Apr 12, 2019 |
| TCTN3 | 36 | Apr 12, 2019 |
| TDP2 | 1 | Mar 13, 2019 |
| TDRD7 | 5 | Apr 12, 2019 |
| TECPR2 | 69 | Oct 15, 2019 |
| TECTA | 53 | Apr 12, 2019 |
| TEK | 3 | Jan 29, 2019 |
| TELO2 | 7 | Jan 29, 2019 |
| TENM3 | 21 | Apr 12, 2019 |
| TERC | 6 | Nov 28, 2017 |
| TERT | 14 | Jan 29, 2019 |
| TET2 | 2 | Jan 29, 2019 |
| TET2-AS1 | 2 | Jan 29, 2019 |
| TEX11 | 1 | Jun 21, 2014 |
| TFAM | 12 | Apr 12, 2019 |
| TFAP2A | 2 | Oct 15, 2019 |
| TFAP2B | 1 | Jan 29, 2019 |
| TFG | 32 | Apr 12, 2019 |
| TFR2 | 2 | Jan 29, 2019 |
| TG | 15 | Mar 13, 2019 |
| TGFB1 | 1 | Jan 29, 2019 |
| TGFB2 | 73 | Oct 15, 2019 |
| TGFB2-AS1 | 2 | Apr 12, 2019 |
| TGFB3 | 67 | Oct 15, 2019 |
| TGFBR1 | 107 | Apr 12, 2019 |
| TGFBR2 | 120 | Apr 12, 2019 |
| TGIF1 | 17 | Apr 12, 2019 |
| TGM1 | 38 | Oct 15, 2019 |
| TGM5 | 9 | Oct 15, 2019 |
| TGM6 | 2 | Jan 29, 2019 |
| TH | 11 | Apr 12, 2019 |
| TH2-LCR | 3 | Jan 29, 2019 |
| TH2LCRR | 7 | Jan 29, 2019 |
| THADA | 2 | Jun 21, 2014 |
| THAP1 | 2 | Oct 15, 2019 |
| THBD | 1 | Jan 29, 2019 |
| THPO | 1 | Dec 21, 2016 |
| THRB | 5 | Jan 29, 2019 |
| TIA1 | 2 | Jan 29, 2019 |
| TIMM44 | 32 | Jan 29, 2019 |
| TIMM8A | 5 | Mar 26, 2018 |
| TINF2 | 6 | Jan 29, 2019 |
| TIPIN | 4 | Sep 14, 2018 |
| TJP2 | 36 | Apr 12, 2019 |
| TK2 | 49 | Apr 12, 2019 |
| TKT | 1 | Nov 28, 2017 |
| TLK2 | 13 | Oct 15, 2019 |
| TLL1 | 2 | Jan 29, 2019 |
| TM9SF4 | 1 | Jun 21, 2014 |
| TMC1 | 19 | Apr 12, 2019 |
| TMC6 | 1 | Jan 29, 2019 |
| TMCC2 | 1 | Jan 29, 2019 |
| TMCO1 | 2 | Jan 29, 2019 |
| TMCO6 | 9 | Apr 12, 2019 |
| TMEM126A | 20 | Apr 12, 2019 |
| TMEM126B | 6 | Apr 12, 2019 |
| TMEM127 | 16 | Apr 12, 2019 |
| TMEM138 | 8 | Apr 12, 2019 |
| TMEM165 | 13 | Apr 12, 2019 |
| TMEM199 | 1 | Apr 12, 2019 |
| TMEM216 | 10 | Apr 12, 2019 |
| TMEM231 | 37 | Apr 12, 2019 |
| TMEM237 | 29 | Apr 12, 2019 |
| TMEM240 | 4 | Jan 29, 2019 |
| TMEM255A | 1 | Dec 21, 2016 |
| TMEM38B | 7 | Apr 12, 2019 |
| TMEM43 | 101 | Apr 12, 2019 |
| TMEM67 | 51 | Apr 12, 2019 |
| TMEM70 | 29 | Oct 15, 2019 |
| TMEM94 | 1 | Oct 15, 2019 |
| TMEM99 | 8 | Apr 12, 2019 |
| TMIE | 6 | Oct 15, 2019 |
| TMLHE | 7 | Jan 29, 2019 |
| TMPO | 74 | Apr 12, 2019 |
| TMPO-AS1 | 12 | Apr 12, 2019 |
| TMPPE | 1 | Dec 21, 2016 |
| TMPRSS15 | 1 | Jan 29, 2019 |
| TMPRSS3 | 23 | Apr 12, 2019 |
| TMPRSS5 | 23 | Apr 12, 2019 |
| TMPRSS6 | 2 | Jan 29, 2019 |
| TMTC2 | 2 | Jun 21, 2014 |
| TMTC3 | 2 | Jan 29, 2019 |
| TMX2-CTNND1 | 1 | Jan 29, 2019 |
| TNFAIP3 | 3 | Jan 29, 2019 |
| TNFRSF11A | 4 | Oct 15, 2019 |
| TNFRSF13B | 8 | Oct 15, 2019 |
| TNFRSF13C | 1 | Mar 26, 2018 |
| TNFRSF1A | 48 | Apr 12, 2019 |
| TNFSF12 | 1 | Mar 26, 2018 |
| TNFSF12-TNFSF13 | 1 | Mar 26, 2018 |
| TNK2 | 2 | Jan 29, 2019 |
| TNNC1 | 38 | Apr 12, 2019 |
| TNNI2 | 21 | Apr 12, 2019 |
| TNNI3 | 112 | Apr 12, 2019 |
| TNNT1 | 42 | Apr 12, 2019 |
| TNNT2 | 164 | Apr 12, 2019 |
| TNNT3 | 3 | Jan 29, 2019 |
| TNPO3 | 70 | Apr 12, 2019 |
| TNXB | 26 | Oct 15, 2019 |
| TOE1 | 14 | Jan 29, 2019 |
| TOP3A | 1 | Oct 15, 2019 |
| TOPBP1 | 1 | Apr 12, 2019 |
| TOPORS | 5 | Jan 29, 2019 |
| TOR1A | 4 | Jan 29, 2019 |
| TOR1AIP1 | 1 | Oct 15, 2019 |
| TP53 | 364 | Oct 15, 2019 |
| TP53BP1 | 1 | Jan 29, 2019 |
| TP63 | 30 | Mar 13, 2019 |
| TPK1 | 25 | Oct 15, 2019 |
| TPM1 | 136 | Apr 12, 2019 |
| TPM1-AS | 11 | Apr 12, 2019 |
| TPM2 | 38 | Apr 12, 2019 |
| TPM3 | 20 | Apr 12, 2019 |
| TPMT | 2 | Apr 12, 2019 |
| TPO | 11 | Oct 15, 2019 |
| TPP1 | 155 | Apr 12, 2019 |
| TPRN | 24 | Oct 15, 2019 |
| TPTE2 | 2 | Jun 21, 2014 |
| TRA | 1 | Jun 21, 2014 |
| TRAF3IP1 | 1 | Jan 29, 2019 |
| TRAP1 | 3 | Jan 29, 2019 |
| TRAPPC11 | 14 | Oct 15, 2019 |
| TRAPPC2 | 1 | Jan 29, 2019 |
| TRAPPC9 | 14 | Oct 15, 2019 |
| TRB | 4 | Jan 29, 2019 |
| TRDN | 149 | Apr 12, 2019 |
| TRDN-AS1 | 6 | Apr 12, 2019 |
| TRERF1 | 1 | Apr 12, 2019 |
| TREX1 | 16 | Oct 15, 2019 |
| TRIM32 | 28 | Apr 12, 2019 |
| TRIM37 | 3 | Oct 15, 2019 |
| TRIM58 | 1 | Jun 21, 2014 |
| TRIM59-IFT80 | 6 | Jan 29, 2019 |
| TRIM63 | 1 | Dec 21, 2016 |
| TRIO | 12 | Oct 15, 2019 |
| TRIOBP | 62 | Oct 15, 2019 |
| TRIP11 | 71 | Apr 12, 2019 |
| TRIP12 | 9 | Oct 15, 2019 |
| TRIP4 | 3 | Oct 15, 2019 |
| TRIT1 | 5 | Apr 12, 2019 |
| TRMT10C | 2 | Apr 12, 2019 |
| TRMU | 74 | Apr 12, 2019 |
| TRNT1 | 47 | Oct 15, 2019 |
| TROAP-AS1 | 1 | Nov 28, 2017 |
| TRPM1 | 8 | Apr 12, 2019 |
| TRPM3 | 1 | Jan 29, 2019 |
| TRPM4 | 128 | Apr 12, 2019 |
| TRPM6 | 2 | Jan 29, 2019 |
| TRPS1 | 11 | Oct 15, 2019 |
| TRPV3 | 2 | Jan 29, 2019 |
| TRPV4 | 164 | Apr 12, 2019 |
| TRPV6 | 1 | Oct 15, 2019 |
| TRRAP | 1 | Jan 29, 2019 |
| TSC1 | 349 | Oct 15, 2019 |
| TSC2 | 1023 | Oct 29, 2020 |
| TSEN2 | 28 | Apr 12, 2019 |
| TSEN34 | 19 | Apr 12, 2019 |
| TSEN54 | 42 | Oct 15, 2019 |
| TSFM | 25 | Apr 12, 2019 |
| TSHB | 1 | Jan 29, 2019 |
| TSHR | 6 | Jan 29, 2019 |
| TSNAX-DISC1 | 1 | Jun 21, 2014 |
| TSPAN1 | 47 | Apr 12, 2019 |
| TSPAN12 | 3 | Jan 29, 2019 |
| TSPAN31 | 26 | Apr 12, 2019 |
| TSPEAR | 26 | Oct 15, 2019 |
| TSPEAR-AS1 | 4 | Oct 15, 2019 |
| TSR2 | 1 | Jan 29, 2019 |
| TTBK2 | 1 | Jan 29, 2019 |
| TTC19 | 61 | Apr 12, 2019 |
| TTC21B | 79 | Apr 12, 2019 |
| TTC21B-AS1 | 13 | Apr 12, 2019 |
| TTC34 | 4 | Jun 21, 2014 |
| TTC37 | 5 | Oct 15, 2019 |
| TTC7A | 6 | Mar 13, 2019 |
| TTC8 | 1 | Jan 29, 2019 |
| TTLL5 | 6 | Oct 15, 2019 |
| TTN | 4662 | Oct 15, 2019 |
| TTN-AS1 | 2516 | Oct 15, 2019 |
| TTPA | 2 | Oct 15, 2019 |
| TTR | 52 | Apr 12, 2019 |
| TUBA1A | 53 | Jan 29, 2019 |
| TUBA3E | 1 | Mar 26, 2018 |
| TUBA4A | 1 | Oct 15, 2019 |
| TUBA8 | 19 | Apr 12, 2019 |
| TUBB | 10 | Apr 12, 2019 |
| TUBB1 | 2 | Jan 29, 2019 |
| TUBB2A | 25 | Apr 12, 2019 |
| TUBB2B | 25 | Apr 12, 2019 |
| TUBB3 | 48 | Apr 12, 2019 |
| TUBB4A | 26 | Apr 12, 2019 |
| TUBB6 | 8 | Apr 12, 2019 |
| TUBG1 | 22 | Apr 12, 2019 |
| TUBGCP4 | 6 | Jan 29, 2019 |
| TUBGCP6 | 15 | Oct 15, 2019 |
| TUFM | 32 | Apr 12, 2019 |
| TULP1 | 4 | Jan 29, 2019 |
| TUSC3 | 5 | Apr 12, 2019 |
| TWIST1 | 6 | Oct 15, 2019 |
| TWNK | 60 | Apr 12, 2019 |
| TXNL4A | 1 | Jan 29, 2019 |
| TXNRD2 | 141 | Apr 12, 2019 |
| TYK2 | 69 | Apr 12, 2019 |
| TYMP | 76 | Oct 15, 2019 |
| TYR | 23 | Oct 15, 2019 |
| TYRP1 | 3 | Jan 29, 2019 |
| UBA1 | 50 | Apr 12, 2019 |
| UBA2 | 6 | Sep 23, 2020 |
| UBA5 | 3 | Jan 29, 2019 |
| UBE2A | 4 | Jan 29, 2019 |
| UBE2G2 | 1 | Dec 21, 2016 |
| UBE3A | 122 | Oct 15, 2019 |
| UBE3B | 6 | Oct 15, 2019 |
| UBQLN4 | 1 | Apr 12, 2019 |
| UBR1 | 7 | Jan 29, 2019 |
| UBTF | 3 | Mar 13, 2019 |
| UCP3 | 1 | Jan 29, 2019 |
| UGGT2 | 1 | Jun 21, 2014 |
| UGT1A | 3 | Jan 29, 2019 |
| UGT1A1 | 3 | Jan 29, 2019 |
| UGT1A10 | 3 | Jan 29, 2019 |
| UGT1A3 | 3 | Jan 29, 2019 |
| UGT1A4 | 3 | Jan 29, 2019 |
| UGT1A5 | 3 | Jan 29, 2019 |
| UGT1A6 | 3 | Jan 29, 2019 |
| UGT1A7 | 3 | Jan 29, 2019 |
| UGT1A8 | 3 | Jan 29, 2019 |
| UGT1A9 | 3 | Jan 29, 2019 |
| UGT8 | 1 | Jan 29, 2019 |
| ULK4 | 1 | Jun 21, 2014 |
| UMOD | 6 | Jan 29, 2019 |
| UMPS | 2 | Mar 13, 2019 |
| UNC13D | 10 | Mar 13, 2019 |
| UNC45B | 4 | Apr 12, 2019 |
| UNC50 | 1 | Apr 12, 2019 |
| UNC5B | 1 | Jan 29, 2019 |
| UNC80 | 12 | Jan 29, 2019 |
| UNG | 1 | Jan 29, 2019 |
| UPB1 | 4 | Jan 29, 2019 |
| UPF3B | 21 | Apr 12, 2019 |
| UPK3A | 3 | Jan 29, 2019 |
| UPRT | 2 | Jun 21, 2014 |
| UQCC2 | 15 | Apr 12, 2019 |
| UQCC3 | 8 | Apr 12, 2019 |
| UQCRB | 16 | Apr 12, 2019 |
| UQCRC2 | 21 | Apr 12, 2019 |
| UQCRQ | 15 | Apr 12, 2019 |
| UROC1 | 1 | Jan 29, 2019 |
| UROD | 1 | Jan 29, 2019 |
| USH1C | 69 | Oct 15, 2019 |
| USH1G | 12 | Apr 12, 2019 |
| USH2A | 245 | Nov 19, 2019 |
| USH2A-AS1 | 17 | Oct 15, 2019 |
| USH2A-AS2 | 14 | Apr 12, 2019 |
| USP34 | 1 | Apr 12, 2019 |
| USP9X | 24 | Apr 12, 2019 |
| UTP14C | 7 | Jan 29, 2019 |
| UTRN | 3 | Mar 26, 2018 |
| VAC14 | 1 | Jan 29, 2019 |
| VAMP1 | 2 | Jan 29, 2019 |
| VAMP2 | 5 | Jun 24, 2020 |
| VANGL1 | 2 | Jan 29, 2019 |
| VANGL2 | 2 | Jan 29, 2019 |
| VAPB | 1 | Mar 26, 2018 |
| VARS1 | 1 | Apr 12, 2019 |
| VARS2 | 86 | Apr 12, 2019 |
| VCL | 154 | Apr 12, 2019 |
| VCP | 13 | Jan 29, 2019 |
| VDR | 2 | Jan 29, 2019 |
| VEGFA | 1 | Jun 21, 2014 |
| VEGFC | 2 | Jan 29, 2019 |
| VHL | 143 | Apr 12, 2019 |
| VIL1 | 1 | Mar 26, 2018 |
| VIM | 1 | Apr 12, 2019 |
| VKORC1 | 6 | Apr 12, 2019 |
| VLDLR | 57 | Apr 12, 2019 |
| VLDLR-AS1 | 10 | Apr 12, 2019 |
| VMA21 | 1 | Mar 26, 2018 |
| VPS13A | 11 | Mar 13, 2019 |
| VPS13B | 83 | Oct 15, 2019 |
| VPS33A | 1 | Apr 12, 2019 |
| VPS33B | 4 | Jan 29, 2019 |
| VPS35 | 2 | Jan 29, 2019 |
| VPS37A | 24 | Apr 12, 2019 |
| VPS45 | 1 | Jan 29, 2019 |
| VPS53 | 57 | Oct 15, 2019 |
| VRK1 | 40 | Apr 12, 2019 |
| VRK2 | 3 | Jan 29, 2019 |
| VSX1 | 1 | Jan 29, 2019 |
| VSX2 | 4 | Apr 12, 2019 |
| VWF | 24 | Apr 12, 2019 |
| WAC | 28 | Oct 15, 2019 |
| WAS | 26 | Oct 15, 2019 |
| WASHC5 | 49 | Apr 12, 2019 |
| WASHC5-AS1 | 3 | Mar 26, 2018 |
| WDR11 | 1 | Jan 29, 2019 |
| WDR19 | 11 | Oct 15, 2019 |
| WDR26 | 4 | Oct 15, 2019 |
| WDR35 | 14 | Apr 12, 2019 |
| WDR36 | 2 | Apr 12, 2019 |
| WDR45 | 65 | Apr 12, 2019 |
| WDR62 | 126 | Oct 15, 2019 |
| WDR72 | 4 | Jan 29, 2019 |
| WDR73 | 10 | Oct 15, 2019 |
| WDR81 | 10 | Apr 12, 2019 |
| WDR87 | 15 | Apr 12, 2019 |
| WFDC3 | 1 | Jun 21, 2014 |
| WFS1 | 256 | Apr 12, 2019 |
| WHRN | 36 | Apr 12, 2019 |
| WNK1 | 49 | Apr 12, 2019 |
| WNK3 | 1 | Jan 29, 2019 |
| WNK4 | 1 | Mar 26, 2018 |
| WNT1 | 8 | Apr 12, 2019 |
| WNT10A | 18 | Mar 13, 2019 |
| WNT10B | 2 | Apr 12, 2019 |
| WNT2B | 2 | Nov 10, 2020 |
| WNT3 | 1 | Mar 26, 2018 |
| WNT5A | 1 | Jan 29, 2019 |
| WNT7A | 1 | Jan 29, 2019 |
| WRAP53 | 8 | Jan 29, 2019 |
| WRN | 10 | Apr 12, 2019 |
| WT1 | 29 | Apr 12, 2019 |
| WT1-AS | 1 | Apr 12, 2019 |
| WWC3 | 1 | Jun 21, 2014 |
| WWOX | 178 | Apr 12, 2019 |
| XAB2 | 1 | Apr 12, 2019 |
| XIAP | 1 | Jan 29, 2019 |
| XIST | 1 | Jun 21, 2014 |
| XKR3 | 1 | Jun 21, 2014 |
| XPA | 5 | Jan 29, 2019 |
| XPC | 1 | Jan 29, 2019 |
| XPNPEP2 | 2 | Mar 26, 2018 |
| XPR1 | 1 | Jan 29, 2019 |
| XRCC2 | 120 | Apr 12, 2019 |
| XRCC4 | 1 | Jan 29, 2019 |
| XYLT1 | 5 | Apr 12, 2019 |
| XYLT2 | 1 | Jan 29, 2019 |
| YARS1 | 42 | Apr 12, 2019 |
| YARS2 | 86 | Apr 12, 2019 |
| YWHAE | 2 | Jul 13, 2016 |
| YY1 | 3 | Oct 15, 2019 |
| ZAN | 1 | Mar 26, 2018 |
| ZAP70 | 13 | Jan 29, 2019 |
| ZBTB18 | 8 | Oct 15, 2019 |
| ZBTB20 | 7 | Nov 20, 2020 |
| ZBTB20-AS1 | 1 | Jan 29, 2019 |
| ZBTB24 | 1 | Jan 29, 2019 |
| ZBTB33 | 1 | Dec 21, 2016 |
| ZC4H2 | 14 | Oct 15, 2019 |
| ZDHHC14 | 2 | Jun 21, 2014 |
| ZDHHC24 | 9 | Oct 15, 2019 |
| ZDHHC9 | 6 | Jan 29, 2019 |
| ZEB1 | 4 | Oct 15, 2019 |
| ZEB1-AS1 | 1 | Jan 29, 2019 |
| ZEB2 | 223 | Nov 19, 2019 |
| ZEB2-AS1 | 1 | Mar 26, 2018 |
| ZFHX3 | 1 | Jun 21, 2014 |
| ZFHX4 | 1 | Jan 29, 2019 |
| ZFPM2 | 5 | Oct 15, 2019 |
| ZFPM2-AS1 | 5 | Oct 15, 2019 |
| ZFYVE26 | 88 | Oct 15, 2019 |
| ZFYVE27 | 1 | Jan 29, 2019 |
| ZIC1 | 4 | Oct 15, 2019 |
| ZIC2 | 12 | Oct 15, 2019 |
| ZIC3 | 4 | Jan 29, 2019 |
| ZMPSTE24 | 5 | Oct 15, 2019 |
| ZMYM3 | 1 | Mar 26, 2018 |
| ZMYND11 | 14 | Jan 29, 2019 |
| ZNF276 | 4 | Jan 29, 2019 |
| ZNF292 | 1 | Jan 29, 2019 |
| ZNF335 | 3 | Oct 15, 2019 |
| ZNF385D | 2 | Jun 21, 2014 |
| ZNF407 | 5 | Sep 4, 2019 |
| ZNF408 | 3 | Oct 15, 2019 |
| ZNF423 | 6 | Jan 29, 2019 |
| ZNF462 | 7 | Oct 15, 2019 |
| ZNF469 | 330 | Oct 15, 2019 |
| ZNF644 | 1 | Jan 29, 2019 |
| ZNF711 | 7 | Jan 29, 2019 |
| ZNF83 | 1 | Jul 13, 2016 |
| ZRANB3 | 6 | Jan 29, 2019 |
| ZRS | 3 | Apr 12, 2019 |
| ZSCAN25 | 1 | Apr 12, 2019 |
| ZSWIM6 | 4 | Mar 13, 2019 |
| ZSWIM7 | 7 | Apr 12, 2019 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Cardiac arrhythmia | 33 | Jul 1, 2015 |
| Cardiomyopathy | 53 | May 4, 2015 |
| Congenital muscular dystrophy | 3 | Jan 20, 2015 |
| Danon disease | 4 | Feb 11, 2015 |
| Delayed gross motor development | 2 | Jan 18, 2019 |
| Dysmorphic features | 1 | May 15, 2020 |
| Familial cancer of breast | 47 | Feb 20, 2015 |
| Familial thoracic aortic aneurysm and aortic dissection | 16 | May 4, 2015 |
| Global developmental delay | 1 | May 15, 2020 |
| Growth hormone deficiency | 1 | May 15, 2020 |
| Hereditary cancer-predisposing syndrome | 103 | Apr 7, 2015 |
| Microcephaly | 1 | May 15, 2020 |
| Mowat-Wilson syndrome | 9 | Feb 11, 2015 |
| Neurodevelopmental abnormality | 15 | Jan 18, 2019 |
| Rasopathy | 55 | Jun 24, 2019 |
| See cases | 3845 | Apr 12, 2019 |
| Short stature | 1 | May 15, 2020 |
| not provided | 65829 | Nov 20, 2020 |
| not specified | 51901 | Jun 26, 2020 |
Testing in GTR
| Disease name | Number of tests |
|---|---|
| 13q partial monosomy syndrome | 1 test |
| 2q24 microdeletion syndrome | 1 test |
| 3-Methylglutaconic aciduria type 1 | 1 test |
| 3-Methylglutaconic aciduria type 2 | 2 tests |
| 3-Methylglutaconic aciduria type 3 | 1 test |
| 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 1 test |
| 46,XX sex reversal 4 | 1 test |
| 46,XX sex reversal, type 1 | 2 tests |
| 46,XY disorder of sex development and 46,XY complete gonadal dysgenesis | 1 test |
| 46,XY gonadal dysgenesis, partial, with minifascicular neuropathy | 1 test |
| 46,XY sex reversal, type 1 | 2 tests |
| 46,XY sex reversal, type 3 | 2 tests |
| 46,XY sex reversal, type 6 | 1 test |
| 46,XY sex reversal, type 7 | 1 test |
| 8p23.1 microdeletion syndrome | 1 test |
| ABCD syndrome | 1 test |
| ADULT syndrome | 3 tests |
| Abnormal pyramidal signs | 1 test |
| Abnormality of lipid metabolism | 3 tests |
| Abnormality of the thorax | 1 test |
| Achondrogenesis | 2 tests |
| Achondroplasia | 2 tests |
| Achromatopsia | 1 test |
| Acrocallosal syndrome | 1 test |
| Acrocephalosyndactyly type I | 1 test |
| Acrodysostosis 1 with or without hormone resistance | 1 test |
| Acute myeloid leukemia | 1 test |
| Acute neuronopathic Gaucher's disease | 1 test |
| Adams-Oliver syndrome | 3 tests |
| Adducted thumb | 1 test |
| Adenylosuccinate lyase deficiency | 3 tests |
| Adrenoleukodystrophy | 2 tests |
| Adult polyglucosan body disease | 1 test |
| Age-related macular degeneration 5 | 1 test |
| Aicardi Goutieres syndrome | 2 tests |
| Albinism, ocular, with sensorineural deafness | 1 test |
| Alexander Disease | 2 tests |
| Alport syndrome | 1 test |
| Alstrom syndrome | 1 test |
| Alternating hemiplegia of childhood 2 | 1 test |
| Aminoglycoside-induced deafness | 4 tests |
| Amyloidogenic transthyretin amyloidosis | 1 test |
| Amyotonia congenita | 1 test |
| Amyotrophic lateral sclerosis | 3 tests |
| Anauxetic dysplasia 1 | 2 tests |
| Andersen Tawil syndrome | 1 test |
| Androgen resistance syndrome | 1 test |
| Angelman syndrome | 4 tests |
| Angelman syndrome-like | 4 tests |
| Aniridia 1 | 1 test |
| Anophthalmia/microphthalmia-esophageal atresia syndrome | 2 tests |
| Anteverted nares | 1 test |
| Antley-Bixler syndrome | 1 test |
| Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | 1 test |
| Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis | 1 test |
| Aplastic anemia | 1 test |
| Arginase deficiency | 2 tests |
| Argininosuccinate lyase deficiency | 1 test |
| Arrhythmogenic right ventricular cardiomyopathy | 7 tests |
| Arrhythmogenic right ventricular dysplasia, familial 1 | 1 test |
| Arterial tortuosity syndrome | 3 tests |
| Arthrogryposis multiplex congenita | 1 test |
| Arthrogryposis, renal dysfunction, and cholestasis 1 | 1 test |
| Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome | 1 test |
| Arts syndrome | 1 test |
| Aspartylglucosaminuria | 1 test |
| Ataxia | 2 tests |
| Ataxia-telangiectasia syndrome | 10 tests |
| Atrophia bulborum hereditaria | 1 test |
| Attenuated familial adenomatous polyposis | 9 tests |
| Atypical Rett syndrome | 6 tests |
| Autism spectrum disorder | 3 tests |
| Autism, susceptibility to, X-linked 4 | 1 test |
| Autoimmune lymphoproliferative syndrome | 1 test |
| Autoimmune lymphoproliferative syndrome type 2B | 1 test |
| Autosomal dominant hypophosphatemic rickets | 1 test |
| Autosomal dominant nocturnal frontal lobe epilepsy | 1 test |
| Autosomal dominant retinitis pigmentosa | 1 test |
| Autosomal dominant torsion dystonia 4 | 1 test |
| Autosomal recessive DOPA responsive dystonia | 1 test |
| Autosomal recessive axonal neuropathy with neuromyotonia | 1 test |
| Autosomal recessive multiple pterygium syndrome | 1 test |
| Autosomal recessive polycystic kidney disease | 2 tests |
| Autosomal recessive retinitis pigmentosa | 1 test |
| Azorean disease | 2 tests |
| BCC1 | 2 tests |
| BH4-deficient hyperphenylalaninemia A | 1 test |
| Bannayan-Riley-Ruvalcaba syndrome | 7 tests |
| Baraitser-Winter syndrome | 1 test |
| Bardet-Biedl syndrome | 1 test |
| Bartter syndrome | 2 tests |
| Beare-Stevenson cutis gyrata syndrome | 1 test |
| Becker muscular dystrophy | 1 test |
| Benign familial neonatal seizures | 4 tests |
| Bent bone dysplasia syndrome | 1 test |
| Bethlem myopathy 1 | 1 test |
| Biotin-responsive basal ganglia disease | 2 tests |
| Biotinidase deficiency | 2 tests |
| Blepharophimosis - intellectual disability syndrome, SBBYS type | 1 test |
| Bosch-Boonstra-Schaaf optic atrophy syndrome | 2 tests |
| Brachycephaly | 1 test |
| Brachyrachia (short spine dysplasia) | 1 test |
| Brain malformation | 2 tests |
| Brain malformations and urinary tract defects | 1 test |
| Branchiooculofacial syndrome | 1 test |
| Branchiootic syndrome 1 | 1 test |
| Branchiootic syndrome 3 | 1 test |
| Branchiootorenal Syndrome 1 | 2 tests |
| Breast and colorectal cancer, susceptibility to | 6 tests |
| Breast and/or ovarian cancer | 6 tests |
| Breast cancer, early-onset | 15 tests |
| Breast cancer, familial male | 15 tests |
| Breast cancer, lobular | 6 tests |
| Breast cancer, susceptibility to | 15 tests |
| Breast neoplasm | 6 tests |
| Breast-ovarian cancer, familial 1 | 17 tests |
| Breast-ovarian cancer, familial 2 | 17 tests |
| Breast-ovarian cancer, familial 4 | 1 test |
| Brittle cornea syndrome 1 | 2 tests |
| Brown-Vialetto-Van Laere syndrome | 1 test |
| Bruck syndrome | 1 test |
| Bruck syndrome 2 | 1 test |
| Brugada syndrome | 6 tests |
| Bulbous nose | 1 test |
| Bullous ichthyosiform erythroderma | 1 test |
| CARASIL | 1 test |
| CDC73-Related Disorders | 1 test |
| CHARGE association | 4 tests |
| CHROMOSOME 1qter DELETION SYNDROME | 1 test |
| CK syndrome | 1 test |
| Calcaneovalgus deformity | 1 test |
| Camptodactyly | 1 test |
| Camptomelic dysplasia | 1 test |
| Carcinoma of colon | 6 tests |
| Carcinoma of pancreas | 12 tests |
| Cardio-facio-cutaneous syndrome | 2 tests |
| Cardiofaciocutaneous syndrome 1 | 1 test |
| Cardiomyopathy | 1 test |
| Cardiomyopathy, left ventricular noncompaction | 5 tests |
| Carney complex, type 1 | 1 test |
| Carney-Stratakis syndrome | 3 tests |
| Carnitine acylcarnitine translocase deficiency | 1 test |
| Carnitine palmitoyltransferase 1A deficiency | 1 test |
| Cataract (disease) | 1 test |
| Catecholaminergic polymorphic ventricular tachycardia | 4 tests |
| Cenani-Lenz syndactyly syndrome | 2 tests |
| Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome | 1 test |
| Cerebellar atrophy | 1 test |
| Cerebral atrophy | 1 test |
| Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1 | 1 test |
| Cerebral creatine deficiency syndrome | 3 tests |
| Cerebral folate transport deficiency | 4 tests |
| Cerebrooculofacioskeletal syndrome 1 | 1 test |
| Ceroid lipofuscinosis neuronal 2 | 2 tests |
| Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant | 1 test |
| Charcot-Marie-Tooth disease | 4 tests |
| Charcot-Marie-Tooth disease axonal type 2C | 1 test |
| Charcot-Marie-Tooth disease dominant intermediate d | 1 test |
| Charcot-Marie-Tooth disease type 2I | 1 test |
| Charcot-Marie-Tooth disease type 2J | 1 test |
| Charcot-Marie-Tooth disease, X-linked recessive, type 5 | 1 test |
| Charcot-Marie-Tooth disease, demyelinating, type 1b | 1 test |
| Charcot-Marie-Tooth disease, demyelinating, type 1d | 1 test |
| Child syndrome | 4 tests |
| Cholestanol storage disease | 3 tests |
| Chondrodysplasia punctata | 2 tests |
| Choroideremia | 2 tests |
| Chromosome 1, deletion q21 q25 | 1 test |
| Chromosome 1, duplication 1p21 p32 | 1 test |
| Chromosome 1, monosomy 1p22 p13 | 1 test |
| Chromosome 1, monosomy 1p31 p22 | 1 test |
| Chromosome 1, monosomy 1p32 | 1 test |
| Chromosome 1, monosomy 1p34 p32 | 1 test |
| Chromosome 1, monosomy 1q25 q32 | 1 test |
| Chromosome 1, monosomy 1q32 q42 | 1 test |
| Chromosome 1, trisomy 1q32 qter | 1 test |
| Chromosome 1, trisomy 1q42-qter | 1 test |
| Chromosome 1, uniparental disomy 1q12 q21 | 1 test |
| Chromosome 10, distal trisomy 10q | 1 test |
| Chromosome 10, trisomy 10pter p13 | 1 test |
| Chromosome 10q22.3-q23.2 deletion syndrome | 1 test |
| Chromosome 10q26 deletion syndrome | 1 test |
| Chromosome 11, deletion 11p | 1 test |
| Chromosome 11, partial trisomy 11q | 1 test |
| Chromosome 11;14 translocation | 1 test |
| Chromosome 11p, partial deletion | 1 test |
| Chromosome 11q trisomy | 1 test |
| Chromosome 12p deletion | 1 test |
| Chromosome 13, partial monosomy 13q | 1 test |
| Chromosome 13p duplication | 1 test |
| Chromosome 13q deletion | 1 test |
| Chromosome 13q-mosaicism | 1 test |
| Chromosome 14 deletion | 1 test |
| Chromosome 14 trisomy | 1 test |
| Chromosome 14, deletion 14q, partial duplication 14p | 1 test |
| Chromosome 14;16 translocation | 1 test |
| Chromosome 14q, partial deletions | 1 test |
| Chromosome 14q, proximal duplication | 1 test |
| Chromosome 14q11-q22 deletion syndrome | 1 test |
| Chromosome 15, distal trisomy 15q | 1 test |
| Chromosome 15q duplication mosaicism | 1 test |
| Chromosome 15q, partial deletion | 1 test |
| Chromosome 15q, tetrasomy | 1 test |
| Chromosome 15q11-q13 duplication syndrome | 1 test |
| Chromosome 15q11.2 deletion syndrome | 1 test |
| Chromosome 15q11.2 duplication syndrome | 1 test |
| Chromosome 15q25 deletion syndrome | 1 test |
| Chromosome 15q26-qter deletion syndrome | 1 test |
| Chromosome 16 inversion, 0.45-mb | 1 test |
| Chromosome 16, trisomy | 1 test |
| Chromosome 16, uniparental disomy | 1 test |
| Chromosome 16p11.2 deletion syndrome, 220 kb | 1 test |
| Chromosome 16p11.2 duplication syndrome | 1 test |
| Chromosome 16p12.1 deletion syndrome, 520kb | 1 test |
| Chromosome 16p12.2-p11.2 deletion syndrome, 7.1- to 8.7-MB | 1 test |
| Chromosome 16p13.3 duplication syndrome | 1 test |
| Chromosome 16q22 deletion syndrome | 1 test |
| Chromosome 17, deletion 17q23 q24 | 1 test |
| Chromosome 17p deletion | 1 test |
| Chromosome 17p13.1 deletion syndrome | 1 test |
| Chromosome 17p13.3, centromeric, duplication syndrome | 1 test |
| Chromosome 17q11.2 deletion syndrome, 1.4 MB | 1 test |
| Chromosome 17q12 deletion syndrome | 1 test |
| Chromosome 17q12 duplication syndrome | 1 test |
| Chromosome 17q21.31 duplication syndrome | 1 test |
| Chromosome 17q23.1-q23.2 deletion syndrome | 1 test |
| Chromosome 17q23.1-q23.2 duplication syndrome | 1 test |
| Chromosome 18 mosaic monosomy | 1 test |
| Chromosome 18 pericentric inversion | 1 test |
| Chromosome 19 ring syndrome | 1 test |
| Chromosome 19p13.13 deletion syndrome | 1 test |
| Chromosome 19q13.11 deletion syndrome | 1 test |
| Chromosome 1p36 deletion syndrome | 1 test |
| Chromosome 1q deletion | 1 test |
| Chromosome 1q, duplication 1q12 q21 | 1 test |
| Chromosome 1q21.1 duplication syndrome | 1 test |
| Chromosome 2, monosomy 2p22 | 1 test |
| Chromosome 2, monosomy 2pter p24 | 1 test |
| Chromosome 2, trisomy 2pter p24 | 1 test |
| Chromosome 2, trisomy 2q37 | 1 test |
| Chromosome 21, monosomy 21q22 | 1 test |
| Chromosome 21, tetrasomy 21q | 1 test |
| Chromosome 21, uniparental disomy of | 1 test |
| Chromosome 22, monosome mosaic | 1 test |
| Chromosome 22, trisomy q11 q13 | 1 test |
| Chromosome 22q deletion | 1 test |
| Chromosome 22q11.2 deletion syndrome, distal | 1 test |
| Chromosome 22q13 duplication syndrome | 1 test |
| Chromosome 2p12-p11.2 deletion syndrome | 1 test |
| Chromosome 2q23.1 deletion syndrome | 1 test |
| Chromosome 2q23.1 duplication syndrome | 1 test |
| Chromosome 2q31.1 duplication syndrome | 1 test |
| Chromosome 2q31.2 deletion syndrome | 1 test |
| Chromosome 2q32-q33 deletion syndrome | 1 test |
| Chromosome 2q37 deletion syndrome | 1 test |
| Chromosome 3 duplication syndrome | 1 test |
| Chromosome 3, monosomy 3p | 1 test |
| Chromosome 3, monosomy 3p14 p11 | 1 test |
| Chromosome 3, monosomy 3q13 | 1 test |
| Chromosome 3, monosomy 3q21 23 | 1 test |
| Chromosome 3, monosomy 3q27 | 1 test |
| Chromosome 3, trisomy 3p25 | 1 test |
| Chromosome 3, trisomy 3q13 2 q25 | 1 test |
| Chromosome 3pter-p25 deletion syndrome | 1 test |
| Chromosome 3q13.31 deletion syndrome | 1 test |
| Chromosome 3q29 microduplication syndrome | 1 test |
| Chromosome 4 short arm deletion | 1 test |
| Chromosome 4, Trisomy 4p | 1 test |
| Chromosome 4, monosomy 4p14 p16 | 1 test |
| Chromosome 4, monosomy 4q32 | 1 test |
| Chromosome 4, monosomy distal 4q | 1 test |
| Chromosome 4, partial trisomy distal 4q | 1 test |
| Chromosome 4, trisomy 4q21 | 1 test |
| Chromosome 4, trisomy 4q25 qter | 1 test |
| Chromosome 4q21 deletion syndrome | 1 test |
| Chromosome 4q32.1-q32.2 triplication syndrome | 1 test |
| Chromosome 5, trisomy 5pter p13 3 | 1 test |
| Chromosome 5, uniparental disomy | 1 test |
| Chromosome 5p13 duplication syndrome | 1 test |
| Chromosome 5q12 deletion syndrome | 1 test |
| Chromosome 5q14.3 deletion syndrome | 1 test |
| Chromosome 6, deletion 6q13 q15 | 1 test |
| Chromosome 6, monosomy 6p23 | 1 test |
| Chromosome 6, monosomy 6q1 | 1 test |
| Chromosome 6, monosomy 6q2 | 1 test |
| Chromosome 6pter-p24 deletion syndrome | 1 test |
| Chromosome 6q24-q25 deletion syndrome | 1 test |
| Chromosome 7, monosomy | 1 test |
| Chromosome 7, monosomy 7q2 | 1 test |
| Chromosome 7, monosomy 7q21 | 1 test |
| Chromosome 7, monosomy 7q3 | 1 test |
| Chromosome 7, partial monosomy 7p | 1 test |
| Chromosome 7, trisomy 7p13 p12 2 | 1 test |
| Chromosome 7q11.23 deletion syndrome, distal, 1.2-mb | 1 test |
| Chromosome 8, monosomy 8p | 1 test |
| Chromosome 8, monosomy 8p2 | 1 test |
| Chromosome 8, mosaic trisomy | 1 test |
| Chromosome 8, partial trisomy | 1 test |
| Chromosome 8-derived supernumerary ring/marker | 1 test |
| Chromosome 8p11 myeloproliferative syndrome | 1 test |
| Chromosome 8q21.11 deletion syndrome | 1 test |
| Chromosome 9 translocation | 1 test |
| Chromosome 9, deletion 9q21.33q22.32 | 1 test |
| Chromosome 9, duplication 9q21 | 1 test |
| Chromosome 9, trisomy 9p | 1 test |
| Chromosome 9, trisomy 9q | 1 test |
| Chromosome 9, trisomy 9q32 | 1 test |
| Chromosome 9p deletion syndrome | 1 test |
| Chromosome 9q duplication | 1 test |
| Chromosome Xp11.3 deletion syndrome | 1 test |
| Chromosome Xp21 deletion syndrome | 1 test |
| Chromosome Xq26.3 duplication syndrome | 1 test |
| Chromosome Xq27.3-q28 duplication syndrome | 1 test |
| Chromosome Xq28 deletion syndrome | 1 test |
| Chromosomes 1 and 2, monosomy 2q duplication 1p | 1 test |
| Chronic infantile neurological, cutaneous and articular syndrome | 3 tests |
| Chudley-McCullough syndrome | 1 test |
| Ciliopathy | 2 tests |
| Citrullinemia type I | 1 test |
| Citrullinemia type II | 1 test |
| Classic homocystinuria | 3 tests |
| Clear cell carcinoma of kidney | 1 test |
| Cleft palate | 1 test |
| Clubfoot | 1 test |
| Cobalamin C disease | 1 test |
| Cockayne syndrome | 1 test |
| Cockayne syndrome B | 1 test |
| Coenzyme Q10 deficiency, primary | 3 tests |
| Coffin-Siris syndrome | 3 tests |
| Coffin-Siris syndrome 1 | 1 test |
| Coffin-Siris syndrome 5 | 1 test |
| Colorectal cancer | 4 tests |
| Colorectal cancer, susceptibility to, 12 | 4 tests |
| Combined malonic and methylmalonic aciduria | 1 test |
| Combined oxidative phosphorylation deficiency | 2 tests |
| Combined oxidative phosphorylation deficiency 1 | 1 test |
| Combined saposin deficiency | 1 test |
| Complex V deficiency | 3 tests |
| Cone-rod dystrophy | 1 test |
| Cone-rod dystrophy 2 | 1 test |
| Congenital adrenal hypoplasia, X-linked | 1 test |
| Congenital bilateral aplasia of vas deferens from CFTR mutation | 1 test |
| Congenital cataracts, hearing loss, and neurodegeneration | 1 test |
| Congenital cerebellar hypoplasia | 2 tests |
| Congenital contractural arachnodactyly | 4 tests |
| Congenital contracture | 1 test |
| Congenital contractures of the limbs and face, hypotonia, and developmental delay | 1 test |
| Congenital hypomyelinating neuropathy 1, autosomal recessive | 1 test |
| Congenital hypotonia, epilepsy, developmental delay, and digital anomalies | 1 test |
| Congenital muscular dystrophy with hyperlaxity | 1 test |
| Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B4 | 1 test |
| Congenital muscular hypertrophy-cerebral syndrome | 1 test |
| Congenital myasthenic syndrome | 1 test |
| Congenital myasthenic syndrome 12 | 1 test |
| Congenital myasthenic syndrome 13 | 1 test |
| Congenital myasthenic syndrome 1B, fast-channel | 1 test |
| Congenital myasthenic syndrome 4C | 1 test |
| Congenital myasthenic syndrome, acetazolamide-responsive | 1 test |
| Congenital myopathy with fiber type disproportion | 1 test |
| Congenital myotonia, autosomal dominant form | 1 test |
| Congenital myotonia, autosomal recessive form | 1 test |
| Congenital ocular coloboma | 1 test |
| Constipation | 1 test |
| Cornelia de Lange syndrome 1 | 2 tests |
| Cornelia de Lange syndrome 3 | 1 test |
| Cornelia de Lange syndrome 4 | 1 test |
| Cornelia de Lange syndrome 5 | 1 test |
| Cortical dysplasia, complex, with other brain malformations 1 | 2 tests |
| Cortical malformations, occipital | 2 tests |
| Costello syndrome | 2 tests |
| Cowden syndrome | 8 tests |
| Cowden syndrome 1 | 6 tests |
| Craniometaphyseal dysplasia | 1 test |
| Craniosynostosis 1 | 1 test |
| Crouzon syndrome | 1 test |
| Cryptorchidism | 1 test |
| Cutaneous malignant melanoma 1 | 2 tests |
| Cutaneous malignant melanoma 2 | 3 tests |
| Cutaneous malignant melanoma 3 | 3 tests |
| Cutaneous malignant melanoma 8 | 1 test |
| Cutis laxa | 2 tests |
| Cyclic neutropenia | 1 test |
| Cyclical neutropenia | 1 test |
| Cystic fibrosis | 1 test |
| DE SANCTIS-CACCHIONE SYNDROME | 1 test |
| DFNA6/14/38 Nonsyndromic Low-Frequency Sensorineural Hearing Loss | 2 tests |
| DOORS syndrome | 1 test |
| DPAGT1-CDG | 1 test |
| Danon disease | 2 tests |
| De Lange syndrome | 3 tests |
| Deafness and myopia | 1 test |
| Deafness dystonia syndrome | 3 tests |
| Deafness with labyrinthine aplasia microtia and microdontia (LAMM) | 1 test |
| Deafness, autosomal dominant 23 | 1 test |
| Deafness, autosomal dominant 34, with or without inflammation | 2 tests |
| Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 | 1 test |
| Deafness, autosomal recessive 1A | 1 test |
| Deafness-infertility syndrome | 1 test |
| Decreased fetal movement | 1 test |
| Decreased motor nerve conduction velocity | 1 test |
| Deficiency of 2-methylbutyryl-CoA dehydrogenase | 1 test |
| Deficiency of 3-hydroxyacyl-CoA dehydrogenase | 1 test |
| Deficiency of acetyl-CoA acetyltransferase | 1 test |
| Deficiency of butyryl-CoA dehydrogenase | 1 test |
| Deficiency of galactokinase | 1 test |
| Deficiency of glycerol kinase | 1 test |
| Deficiency of hydroxymethylglutaryl-CoA lyase | 2 tests |
| Deficiency of malonyl-CoA decarboxylase | 1 test |
| Deficiency of steroid 17-alpha-monooxygenase | 2 tests |
| Dejerine-Sottas disease | 1 test |
| Delayed speech and language development | 1 test |
| Deletion of long arm of chromosome 18 | 1 test |
| Deletion of short arm of chromosome 18 | 1 test |
| Desmosterolosis | 1 test |
| DiGeorge Syndrome | 1 test |
| Diabetes-deafness syndrome maternally transmitted | 4 tests |
| Diamond-Blackfan anemia | 1 test |
| Digital arthropathy-brachydactyly, familial | 1 test |
| Dihydropteridine reductase deficiency | 1 test |
| Dilated cardiomyopathy 1X | 1 test |
| Disorder of the urea cycle metabolism | 1 test |
| Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency | 1 test |
| Distal arthrogryposis | 1 test |
| Distal arthrogryposis type 1A | 2 tests |
| Distal arthrogryposis type 1B | 1 test |
| Distal monosomy 9p | 1 test |
| Distal spinal muscular atrophy, congenital nonprogressive | 1 test |
| Distal trisomy 14q | 1 test |
| Distal trisomy 6q | 1 test |
| Drash syndrome | 1 test |
| Duane-radial ray syndrome | 3 tests |
| Duchenne muscular dystrophy | 1 test |
| Dyskeratosis congenita | 1 test |
| Dyskeratosis congenita, autosomal dominant, 3 | 1 test |
| Dysphagia | 1 test |
| Dystonia | 2 tests |
| Dystonia 1 | 1 test |
| Dystonia 12 | 1 test |
| Dystonia 16 | 1 test |
| Dystonia 24 | 1 test |
| Dystonia 5 | 2 tests |
| Dystonia 9 | 1 test |
| EAST syndrome | 2 tests |
| Early infantile epileptic encephalopathy 10 | 4 tests |
| Early infantile epileptic encephalopathy 11 | 3 tests |
| Early infantile epileptic encephalopathy 12 | 3 tests |
| Early infantile epileptic encephalopathy 13 | 3 tests |
| Early infantile epileptic encephalopathy 14 | 3 tests |
| Early infantile epileptic encephalopathy 15 | 3 tests |
| Early infantile epileptic encephalopathy 16 | 3 tests |
| Early infantile epileptic encephalopathy 17 | 3 tests |
| Early infantile epileptic encephalopathy 18 | 3 tests |
| Early infantile epileptic encephalopathy 2 | 4 tests |
| Early infantile epileptic encephalopathy 21 | 3 tests |
| Early infantile epileptic encephalopathy 4 | 3 tests |
| Early infantile epileptic encephalopathy 5 | 3 tests |
| Early infantile epileptic encephalopathy 7 | 3 tests |
| Early infantile epileptic encephalopathy 8 | 3 tests |
| Early infantile epileptic encephalopathy 9 | 3 tests |
| Early infantile epileptic encephalopathy with suppression bursts | 2 tests |
| Early onset epileptic encephalopathy | 1 test |
| Ectodermal dysplasia and immunodeficiency 1 | 2 tests |
| Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 | 3 tests |
| Ehlers-Danlos syndrome | 6 tests |
| Ehlers-Danlos syndrome, musculocontractural type | 1 test |
| Ehlers-Danlos syndrome, type 4 | 5 tests |
| Elbow flexion contracture | 1 test |
| Elevated serum creatine phosphokinase | 1 test |
| Encephalopathy due to defective mitochondrial and peroxisomal fission | 2 tests |
| Endometrial carcinoma | 10 tests |
| Endplate acetylcholinesterase deficiency | 1 test |
| Epidermolysis bullosa | 1 test |
| Epidermolytic palmoplantar keratoderma | 1 test |
| Epilepsy | 4 tests |
| Epilepsy, X-linked, with variable learning disabilities and behavior disorders | 1 test |
| Epilepsy, focal, with speech disorder and with or without mental retardation | 2 tests |
| Epileptic encephalopathy, childhood-onset | 3 tests |
| Epileptic encephalopathy, early infantile, 1 | 4 tests |
| Epileptic encephalopathy, early infantile, 19 | 3 tests |
| Epileptic encephalopathy, early infantile, 23 | 3 tests |
| Epileptic encephalopathy, early infantile, 24 | 3 tests |
| Epileptic encephalopathy, early infantile, 25 | 3 tests |
| Epileptic encephalopathy, early infantile, 26 | 3 tests |
| Epileptic encephalopathy, early infantile, 27 | 3 tests |
| Epileptic encephalopathy, early infantile, 42 | 1 test |
| Epileptic spasms | 2 tests |
| Episodic ataxia type 2 | 1 test |
| Episodic kinesigenic dyskinesia 1 | 2 tests |
| Erythrokeratodermia variabilis et progressiva 1 | 1 test |
| Ethylmalonic encephalopathy | 2 tests |
| FG syndrome 1 | 2 tests |
| FG syndrome 2 | 1 test |
| Fabry disease | 1 test |
| Facial palsy | 1 test |
| Familial Mediterranean fever | 1 test |
| Familial X-linked hypophosphatemic vitamin D refractory rickets | 1 test |
| Familial adenomatous polyposis 1 | 8 tests |
| Familial amyloid nephropathy with urticaria AND deafness | 4 tests |
| Familial atrial myxoma | 1 test |
| Familial cancer of breast | 17 tests |
| Familial cold autoinflammatory syndrome | 1 test |
| Familial cold autoinflammatory syndrome 1 | 3 tests |
| Familial colorectal cancer | 12 tests |
| Familial dysautonomia | 1 test |
| Familial exudative vitreoretinopathy | 1 test |
| Familial hemiplegic migraine type 1 | 1 test |
| Familial hemiplegic migraine type 2 | 1 test |
| Familial hemiplegic migraine type 3 | 1 test |
| Familial hypercholesterolemia 1 | 4 tests |
| Familial hyperkalemic periodic paralysis | 1 test |
| Familial infantile myasthenia | 2 tests |
| Familial pancreatic carcinoma | 10 tests |
| Familial prostate carcinoma | 10 tests |
| Familial temporal lobe epilepsy 1 | 1 test |
| Familial thoracic aortic aneurysm and aortic dissection | 5 tests |
| Fanconi anemia | 4 tests |
| Fanconi anemia, complementation group D1 | 8 tests |
| Fanconi anemia, complementation group J | 5 tests |
| Fanconi anemia, complementation group N | 6 tests |
| Feeding difficulties | 1 test |
| Feingold syndrome | 1 test |
| Fetal akinesia deformation sequence 2 | 1 test |
| Fetal akinesia sequence | 1 test |
| Fever-associated acute infantile liver failure syndrome | 2 tests |
| Fibrochondrogenesis 1 | 5 tests |
| Fibrous dysplasia of jaw | 1 test |
| Flexion contracture | 1 test |
| Focal epilepsy | 2 tests |
| Foveal hypoplasia and presenile cataract syndrome | 1 test |
| Fragile X syndrome | 1 test |
| Fragile X tremor/ataxia syndrome | 1 test |
| Freeman-Sheldon syndrome | 1 test |
| Frontometaphyseal dysplasia 1 | 1 test |
| Frontotemporal dementia | 1 test |
| Fucosidosis | 1 test |
| Fukuyama congenital muscular dystrophy | 1 test |
| Full cheeks | 1 test |
| Fumarase deficiency | 3 tests |
| Furrowed tongue | 1 test |
| GLUT1 deficiency syndrome | 2 tests |
| GLUT1 deficiency syndrome 1 | 4 tests |
| GLUT1 deficiency syndrome 2 | 1 test |
| GM1 gangliosidosis | 1 test |
| GM1 gangliosidosis type 3 | 1 test |
| GRACILE syndrome | 2 tests |
| Galactosylceramide beta-galactosidase deficiency | 1 test |
| Gardner syndrome | 4 tests |
| Gastroesophageal reflux | 1 test |
| Gastrointestinal stromal tumor | 1 test |
| Gaucher disease type 3C | 1 test |
| Gaucher disease, atypical, due to saposin C deficiency | 1 test |
| Gaucher disease, perinatal lethal | 1 test |
| Gaucher's disease, type 1 | 1 test |
| Generalized epilepsy with febrile seizures plus | 5 tests |
| Generalized epilepsy with febrile seizures plus, type 2 | 1 test |
| Generalized epilepsy with febrile seizures plus, type 7 | 1 test |
| Generalized juvenile polyposis/juvenile polyposis coli | 6 tests |
| Genitopatellar syndrome | 1 test |
| Gillespie syndrome | 1 test |
| Glaucoma | 1 test |
| Global developmental delay | 1 test |
| Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome | 1 test |
| Glucocorticoid deficiency with achalasia | 2 tests |
| Glutaric aciduria, type 1 | 1 test |
| Glycogen storage disease IV, congenital neuromuscular | 1 test |
| Glycogen storage disease, type IV | 1 test |
| Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors | 1 test |
| Gordon's syndrome | 1 test |
| Gorlin syndrome | 3 tests |
| Greenberg dysplasia | 1 test |
| Greig cephalopolysyndactyly syndrome | 1 test |
| HSD10 disease | 1 test |
| Hartsfield syndrome | 1 test |
| Hay-Wells syndrome of ectodermal dysplasia | 2 tests |
| Hb SS disease | 2 tests |
| Hepatic methionine adenosyltransferase deficiency | 1 test |
| Hepatocellular carcinoma | 1 test |
| Hereditary Paraganglioma-Pheochromocytoma Syndromes | 2 tests |
| Hereditary angioedema type 3 | 1 test |
| Hereditary breast and ovarian cancer syndrome | 15 tests |
| Hereditary cancer-predisposing syndrome | 4 tests |
| Hereditary diffuse gastric cancer | 9 tests |
| Hereditary disease | 6 tests |
| Hereditary hearing loss and deafness | 1 test |
| Hereditary hemorrhagic telangiectasia type 1 | 2 tests |
| Hereditary insensitivity to pain with anhidrosis | 1 test |
| Hereditary leiomyomatosis and renal cell cancer | 3 tests |
| Hereditary liability to pressure palsies | 1 test |
| Hereditary motor and sensory neuropathy | 3 tests |
| Hereditary nonpolyposis colorectal cancer type 4 | 5 tests |
| Hereditary nonpolyposis colorectal cancer type 5 | 5 tests |
| Hereditary nonpolyposis colorectal cancer type 8 | 5 tests |
| Hereditary ovarian carcinoma | 10 tests |
| Hereditary pancreatitis | 1 test |
| Hereditary sensory and autonomic neuropathy | 1 test |
| Hereditary sensory and autonomic neuropathy type 1 | 1 test |
| Hereditary sensory and autonomic neuropathy type II | 1 test |
| Hereditary sensory neuropathy type IE | 1 test |
| Hereditary spastic paraplegia | 1 test |
| Hidrotic ectodermal dysplasia syndrome | 1 test |
| Highly arched eyebrow | 1 test |
| Hip contracture | 1 test |
| Holocarboxylase synthetase deficiency | 1 test |
| Holoprosencephaly 3 | 1 test |
| Holoprosencephaly 7 | 2 tests |
| Holoprosencephaly sequence | 1 test |
| Holt-Oram syndrome | 3 tests |
| Homocystinuria | 1 test |
| Homocystinuria due to MTHFR deficiency | 1 test |
| Hydrolethalus syndrome 2 | 1 test |
| Hyper-IgE syndrome | 1 test |
| Hyperammonemia | 1 test |
| Hyperammonemia, type III | 1 test |
| Hyperekplexia 1 | 1 test |
| Hyperimmunoglobulin D with periodic fever | 1 test |
| Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive | 1 test |
| Hyperinsulinemic hypoglycemia, familial, 4 | 1 test |
| Hyperlordosis | 1 test |
| Hyperparathyroidism 1 | 1 test |
| Hyperparathyroidism 2 | 1 test |
| Hyperphenylalaninemia, BH4-deficient, D | 1 test |
| Hyperphenylalaninemia, bh4-deficient, a, due to partial pts deficiency | 1 test |
| Hyperphosphatasia with mental retardation syndrome 1 | 1 test |
| Hypertrophic cardiomyopathy | 6 tests |
| Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis | 2 tests |
| Hypochondroplasia | 1 test |
| Hypogonadism with anosmia | 2 tests |
| Hypogonadotropic hypogonadism 13 with or without anosmia | 1 test |
| Hypogonadotropic hypogonadism 2 with or without anosmia | 1 test |
| Hypogonadotropic hypogonadism 7 with or without anosmia | 1 test |
| Hypokalemic periodic paralysis 1 | 2 tests |
| Hypokalemic periodic paralysis, type 2 | 2 tests |
| Hypokinesia | 1 test |
| Hypomyelinating leukodystrophy | 2 tests |
| Hypomyelination and Congenital Cataract | 1 test |
| Hypoparathyroidism-deafness-renal disease syndrome | 1 test |
| Hypophosphatemic rickets | 1 test |
| Hypoplastic labia majora | 1 test |
| Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration | 1 test |
| Hypotonia, ataxia, and delayed development syndrome | 1 test |
| Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 | 1 test |
| Ichthyosis, cyclic, with epidermolytic hyperkeratosis | 1 test |
| Idiopathic generalized epilepsy | 2 tests |
| Idiopathic hypereosinophilic syndrome | 1 test |
| Imerslund-Gräsbeck syndrome | 2 tests |
| Immunodeficiency-centromeric instability-facial anomalies syndrome 1 | 1 test |
| Inborn disorder of lysosomal amino acid transport | 1 test |
| Incontinentia pigmenti syndrome | 2 tests |
| Infantile GM1 gangliosidosis | 1 test |
| Infantile convulsions and choreoathetosis | 2 tests |
| Infantile epilepsy | 1 test |
| Inguinal hernia | 1 test |
| Intellectual disability | 3 tests |
| Irido-corneo-trabecular dysgenesis | 1 test |
| Isolated coronal synostosis | 1 test |
| Isovaleryl-CoA dehydrogenase deficiency | 1 test |
| Jackson-Weiss syndrome | 1 test |
| Jarcho-Levin syndrome | 1 test |
| Jervell and Lange-Nielsen syndrome | 1 test |
| Joubert syndrome | 3 tests |
| Joubert syndrome 3 | 1 test |
| Joubert syndrome and related disorders | 1 test |
| Joubert syndrome with hepatic defect | 2 tests |
| Juvenile myoclonic epilepsy | 2 tests |
| Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 3 tests |
| KBG syndrome | 1 test |
| Kearns Sayre syndrome | 3 tests |
| Keratitis ichthyosis and deafness syndrome | 1 test |
| Keutel syndrome | 1 test |
| Kleefstra syndrome 1 | 1 test |
| Knee flexion contracture | 1 test |
| Koolen-de Vries syndrome | 2 tests |
| Kostmann syndrome | 1 test |
| Krabbe disease, atypical, due to saposin A deficiency | 2 tests |
| Lactic acidosis | 4 tests |
| Leber congenital amaurosis 14 | 1 test |
| Leber congenital amaurosis 15 | 1 test |
| Leber congenital amaurosis 3 | 1 test |
| Leber congenital amaurosis with early-onset deafness | 1 test |
| Leber's optic atrophy | 3 tests |
| Legius syndrome | 1 test |
| Leigh syndrome | 5 tests |
| Lethal arthrogryposis with anterior horn cell disease | 1 test |
| Lethal congenital contracture syndrome 4 | 1 test |
| Lethal multiple pterygium syndrome | 2 tests |
| Lethal tight skin contracture syndrome | 1 test |
| Leukodystrophy | 1 test |
| Leukodystrophy, adult-onset, autosomal dominant | 1 test |
| Leukodystrophy, hypomyelinating, 6 | 1 test |
| Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome | 2 tests |
| Leukoencephalopathy with vanishing white matter | 1 test |
| Levy-Hollister syndrome | 2 tests |
| Lewy body dementia | 1 test |
| Li-Fraumeni syndrome | 9 tests |
| Li-Fraumeni syndrome 1 | 4 tests |
| Li-Fraumeni syndrome 2 | 1 test |
| Limb-girdle muscular dystrophy-dystroglycanopathy, type C4 | 1 test |
| Limb-mammary syndrome | 2 tests |
| Lipoyltransferase 1 deficiency | 2 tests |
| Lissencephaly | 5 tests |
| Lissencephaly 2, X-linked | 1 test |
| Lissencephaly 3 | 2 tests |
| Lissencephaly 4 | 1 test |
| Lissencephaly 5 | 1 test |
| Lissencephaly 6, with microcephaly | 1 test |
| Lissencephaly 7 with cerebellar hypoplasia | 2 tests |
| Lissencephaly 8 | 1 test |
| Lissencephaly due to LIS1 mutation | 1 test |
| Lissencephaly, X-linked | 1 test |
| Loeys-Dietz syndrome | 3 tests |
| Loeys-Dietz syndrome 5 | 1 test |
| Long QT syndrome | 5 tests |
| Long philtrum | 1 test |
| Low-set ears | 1 test |
| Lung carcinoma | 2 tests |
| Lynch syndrome | 8 tests |
| Lynch syndrome I | 6 tests |
| Lynch syndrome II | 5 tests |
| Lysosomal acid lipase deficiency | 1 test |
| MERRF syndrome | 3 tests |
| MYH-associated polyposis | 7 tests |
| Macrocephalus | 1 test |
| Macrocephaly/autism syndrome | 1 test |
| Macrotia | 1 test |
| Majeed syndrome | 1 test |
| Malignant hyperthermia, susceptibility to, 5 | 1 test |
| Malignant tumor of prostate | 7 tests |
| Maple syrup urine disease | 1 test |
| Maple syrup urine disease, type 3 | 2 tests |
| Marden-Walker syndrome | 1 test |
| Marfan syndrome | 6 tests |
| Marshall syndrome | 4 tests |
| Maturity onset diabetes mellitus in young | 1 test |
| Meckel syndrome type 1 | 1 test |
| Meckel-Gruber syndrome | 1 test |
| Medium-chain acyl-coenzyme A dehydrogenase deficiency | 1 test |
| Medulloblastoma | 1 test |
| Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness | 2 tests |
| Megalocornea-intellectual disability syndrome | 1 test |
| Melanoma | 5 tests |
| Melanoma-pancreatic cancer syndrome | 4 tests |
| Meningioma, familial | 1 test |
| Menkes kinky-hair syndrome | 1 test |
| Mental retardation and microcephaly with pontine and cerebellar hypoplasia | 1 test |
| Mental retardation, autosomal dominant 22 | 1 test |
| Metabolic myopathy | 1 test |
| Metachromatic leukodystrophy | 3 tests |
| Metaphyseal anadysplasia | 1 test |
| Metaphyseal chondrodysplasia, McKusick type | 2 tests |
| Metaphyseal dysplasia without hypotrichosis | 2 tests |
| Metatrophic dysplasia | 1 test |
| Methylmalonic acidemia | 2 tests |
| Microcephaly, normal intelligence and immunodeficiency | 6 tests |
| Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy | 2 tests |
| Micrognathia | 1 test |
| Microphthalmia, isolated, with coloboma 10 | 1 test |
| Mitochondrial DNA Deletion Syndromes | 3 tests |
| Mitochondrial DNA depletion syndrome | 2 tests |
| Mitochondrial complex I deficiency | 3 tests |
| Mitochondrial complex II deficiency | 3 tests |
| Mitochondrial complex III deficiency, nuclear type 1 | 3 tests |
| Mitochondrial complex IV deficiency | 3 tests |
| Mitochondrial diseases | 5 tests |
| Mitochondrial encephalopathy | 2 tests |
| Mitochondrial myopathy | 4 tests |
| Mitochondrial myopathy and sideroblastic anemia | 2 tests |
| Mitochondrial neurogastrointestinal encephalomyopathy | 3 tests |
| Mitochondrial pyruvate carrier deficiency | 2 tests |
| Mitochondrial short-chain enoyl-coa hydratase 1 deficiency | 2 tests |
| Monosomy 21 | 1 test |
| Morquio syndrome C | 1 test |
| Mosaic trisomy 10 | 1 test |
| Mosaic trisomy 14 | 1 test |
| Mosaic trisomy 15 | 1 test |
| Mosaic trisomy 22 | 1 test |
| Mosaic trisomy 7 | 1 test |
| Mosaic trisomy 9 | 1 test |
| Mowat-Wilson syndrome | 4 tests |
| Mucolipidosis type IV | 1 test |
| Mucopolysaccharidosis type 6 | 1 test |
| Mucopolysaccharidosis, MPS-III-C | 2 tests |
| Mucopolysaccharidosis, MPS-IV-A | 1 test |
| Mucopolysaccharidosis, MPS-IV-B | 1 test |
| Muir-Torré syndrome | 7 tests |
| Multiple acyl-CoA dehydrogenase deficiency | 5 tests |
| Multiple endocrine neoplasia, type 4 | 1 test |
| Multiple epiphyseal dysplasia (disease) | 3 tests |
| Multiple fibrofolliculomas | 1 test |
| Multiple mitochondrial dysfunctions syndrome | 2 tests |
| Multiple sclerosis susceptibility | 2 tests |
| Multiple sclerosis, susceptibility to, 5 | 2 tests |
| Multiple sulfatase deficiency | 2 tests |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | 1 test |
| Muscular hypotonia | 1 test |
| Muscular hypotonia of the trunk | 1 test |
| Mutilating keratoderma | 1 test |
| Myasthenia, limb-girdle, familial | 2 tests |
| Myasthenic syndrome, congenital, 8 | 1 test |
| Myasthenic syndrome, slow-channel congenital | 1 test |
| Myelodysplastic syndrome | 1 test |
| Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to | 1 test |
| Myoclonic epilepsy myopathy sensory ataxia | 2 tests |
| Myoclonic epilepsy, familial infantile | 2 tests |
| Myofibrillar myopathy | 1 test |
| Myopathy with lactic acidosis, hereditary | 2 tests |
| Myopathy, centronuclear, 2 | 1 test |
| Myopathy, congenital, with neuropathy and deafness | 1 test |
| Myopathy, lactic acidosis, and sideroblastic anemia 1 | 1 test |
| Myopathy, proximal, and ophthalmoplegia | 1 test |
| Myosclerosis, autosomal recessive | 1 test |
| Myotonic dystrophy type 2 | 1 test |
| NARP syndrome | 3 tests |
| Nemaline bodies | 1 test |
| Nemaline myopathy | 1 test |
| Nemaline myopathy 1 | 1 test |
| Nemaline myopathy 2 | 1 test |
| Nemaline myopathy 4 | 1 test |
| Nemaline myopathy 5 | 1 test |
| Neonatal intrahepatic cholestasis caused by citrin deficiency | 1 test |
| Neoplasm of ovary | 6 tests |
| Neoplasm of stomach | 7 tests |
| Nephrocalcinosis | 1 test |
| Nephrolithiasis | 1 test |
| Nephrotic syndrome | 2 tests |
| Neuroblastoma 2 | 1 test |
| Neurodegeneration with brain iron accumulation | 2 tests |
| Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter | 2 tests |
| Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements | 1 test |
| Neurofibromas | 1 test |
| Neurofibromatosis, type 1 | 5 tests |
| Neurofibromatosis, type 2 | 2 tests |
| Neurofibromatosis-Noonan syndrome | 4 tests |
| Neuromuscular disease | 1 test |
| Neuronal ceroid lipofuscinosis | 3 tests |
| Neuronal ceroid lipofuscinosis 1 | 1 test |
| Neuronal ceroid lipofuscinosis 5 | 1 test |
| Neuronal ceroid lipofuscinosis 6 | 1 test |
| Neuronal ceroid lipofuscinosis 7 | 1 test |
| Niemann-Pick disease type C1 | 2 tests |
| Non-syndromic intellectual disability | 1 test |
| Nonsyndromic Deafness | 1 test |
| Nonsyndromic microcephaly | 2 tests |
| Noonan syndrome | 8 tests |
| Noonan syndrome 10 | 1 test |
| Noonan syndrome with multiple lentigines | 1 test |
| Noonan syndrome-like disorder with loose anagen hair 1 | 1 test |
| Norman-Roberts syndrome | 1 test |
| Nystagmus | 2 tests |
| Nystagmus 6, congenital, X-linked | 1 test |
| Ocular albinism with late-onset sensorineural deafness | 1 test |
| Oculocutaneous albinism | 1 test |
| Oculofaciocardiodental syndrome | 1 test |
| Oculopharyngeal muscular dystrophy | 1 test |
| Optic atrophy | 5 tests |
| Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy | 1 test |
| Ornithine carbamoyltransferase deficiency | 3 tests |
| Orofaciodigital syndrome type 6 | 1 test |
| Osteochondrodysplasia | 1 test |
| Osteogenesis imperfecta | 4 tests |
| Osteosarcoma | 1 test |
| Otospondylomegaepiphyseal dysplasia, autosomal dominant | 3 tests |
| Otospondylomegaepiphyseal dysplasia, autosomal recessive | 2 tests |
| Ovarian cancer | 16 tests |
| Ovarian dysgenesis 1 | 1 test |
| Ovarian dysgenesis 2 | 1 test |
| Ovarioleukodystrophy | 1 test |
| PTEN hamartoma tumor syndrome | 7 tests |
| Pallister-Hall syndrome | 1 test |
| Pancreatic cancer 1 | 6 tests |
| Pancreatic cancer 2 | 5 tests |
| Pancreatic cancer 3 | 1 test |
| Pancreatic cancer 4 | 7 tests |
| Paragangliomas 1 | 3 tests |
| Parastremmatic dwarfism | 1 test |
| Parathyroid carcinoma | 1 test |
| Parkes Weber syndrome | 2 tests |
| Parkinson disease | 3 tests |
| Parkinson disease 1 | 1 test |
| Parkinson disease 2 | 1 test |
| Paroxysmal extreme pain disorder | 1 test |
| Partial deletion of the long arm of chromosome 11 | 1 test |
| Partial deletion of the long arm of chromosome 2 | 1 test |
| Partial deletion of the long arm of chromosome 4 | 1 test |
| Partial deletion of the long arm of chromosome 6 | 1 test |
| Partial deletion of the long arm of chromosome 8 | 1 test |
| Partial deletion of the short arm of chromosome 1 | 1 test |
| Partial deletion of the short arm of chromosome 10 | 1 test |
| Partial duplication of the long arm of chromosome 12 | 1 test |
| Partial duplication of the long arm of chromosome 15 | 1 test |
| Partial duplication of the long arm of chromosome 17 | 1 test |
| Partial duplication of the long arm of chromosome 19 | 1 test |
| Partial duplication of the long arm of chromosome 2 | 1 test |
| Partial duplication of the long arm of chromosome 3 | 1 test |
| Partial duplication of the long arm of chromosome 4 | 1 test |
| Partial duplication of the long arm of chromosome 7 | 1 test |
| Partial duplication of the long arm of chromosome X | 1 test |
| Partial duplication of the short arm of chromosome 16 | 1 test |
| Partial duplication of the short arm of chromosome 2 | 1 test |
| Partial duplication of the short arm of chromosome 6 | 1 test |
| Partial duplication of the short arm of chromosome 7 | 1 test |
| Partial monosomy of the long arm of chromosome 10 | 1 test |
| Partial monosomy of the short arm of chromosome 20 | 1 test |
| Partial trisomy of the long arm of chromosome 16 | 1 test |
| Partial trisomy of the long arm of chromosome 18 | 1 test |
| Partial trisomy of the long arm of chromosome 5 | 1 test |
| Paternal uniparental disomy of chromosome 14 | 1 test |
| Pearson syndrome | 3 tests |
| Pectus carinatum | 1 test |
| Pelviscapular dysplasia | 2 tests |
| Pena-Shokeir syndrome type I | 2 tests |
| Pendred syndrome | 1 test |
| Peripheral neuropathy, myopathy, hoarseness, and hearing loss | 1 test |
| Periventricular nodular heterotopia | 4 tests |
| Permanent neonatal diabetes mellitus | 1 test |
| Peroxisome biogenesis disorders | 2 tests |
| Perrault syndrome | 4 tests |
| Peutz-Jeghers syndrome | 9 tests |
| Pfeiffer syndrome | 1 test |
| Phenylketonuria | 1 test |
| Pheochromocytoma | 4 tests |
| Phytanic acid storage disease | 1 test |
| Pigmentary pallidal degeneration | 1 test |
| Pigmentary retinal dystrophy | 1 test |
| Pigmented nodular adrenocortical disease, primary, 1 | 1 test |
| Pili torti-deafness syndrome | 2 tests |
| Pitt-Hopkins syndrome | 3 tests |
| Pleuropulmonary blastoma | 1 test |
| Pneumothorax, primary spontaneous | 1 test |
| Polycystic kidney disease 2 | 1 test |
| Polycystic kidney disease 3 | 1 test |
| Polycystic kidney disease, adult type | 2 tests |
| Polydactyly, preaxial II | 1 test |
| Polymicrogyria | 1 test |
| Polymicrogyria with optic nerve hypoplasia | 2 tests |
| Polymicrogyria, asymmetric | 2 tests |
| Polymicrogyria, bilateral frontoparietal | 3 tests |
| Pontocerebellar hypoplasia type 1 | 3 tests |
| Pontocerebellar hypoplasia type 2 | 2 tests |
| Pontocerebellar hypoplasia type 2A | 1 test |
| Pontocerebellar hypoplasia type 2D | 2 tests |
| Pontocerebellar hypoplasia type 3 | 2 tests |
| Pontocerebellar hypoplasia type 4 | 4 tests |
| Pontocerebellar hypoplasia type 6 | 2 tests |
| Pontocerebellar hypoplasia type 8 | 2 tests |
| Pontocerebellar hypoplasia, type 10 | 2 tests |
| Pontocerebellar hypoplasia, type 11 | 2 tests |
| Pontocerebellar hypoplasia, type 1b | 1 test |
| Pontocerebellar hypoplasia, type 1c | 2 tests |
| Pontocerebellar hypoplasia, type 2e | 2 tests |
| Pontocerebellar hypoplasia, type 2f | 2 tests |
| Pontocerebellar hypoplasia, type 7 | 2 tests |
| Pontoneocerebellar hypoplasia | 3 tests |
| Poor eye contact | 1 test |
| Potassium-aggravated myotonia | 1 test |
| Potocki-Lupski syndrome | 1 test |
| Prader-Willi syndrome | 1 test |
| Prader-Willi-like syndrome associated with chromosome 6 | 1 test |
| Premature ovarian failure | 1 test |
| Premature ovarian failure 7 | 1 test |
| Primary autosomal recessive microcephaly 1 | 1 test |
| Primary dilated cardiomyopathy | 6 tests |
| Primary erythromelalgia | 1 test |
| Progressive external ophthalmoplegia | 4 tests |
| Progressive myoclonic epilepsy | 5 tests |
| Progressive sclerosing poliodystrophy | 3 tests |
| Prolidase deficiency | 1 test |
| Prominent forehead | 1 test |
| Propionic acidemia | 4 tests |
| Prostate cancer, hereditary, 1 | 3 tests |
| Prostate cancer, hereditary, 9 | 1 test |
| Protoporphyria, erythropoietic, X-linked | 2 tests |
| Pseudo-TORCH syndrome 1 | 2 tests |
| Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome | 1 test |
| Pseudoxanthoma elasticum | 1 test |
| Pursed lips | 1 test |
| Pyogenic arthritis-pyoderma gangrenosum-acne syndrome | 1 test |
| Pyridoxine-dependent epilepsy | 4 tests |
| Pyruvate carboxylase deficiency | 3 tests |
| Pyruvate dehydrogenase E1-alpha deficiency | 1 test |
| Pyruvate dehydrogenase E1-beta deficiency | 1 test |
| Pyruvate dehydrogenase complex deficiency | 2 tests |
| Pyruvate dehydrogenase lipoic acid synthetase deficiency | 2 tests |
| Radial aplasia-thrombocytopenia syndrome | 1 test |
| Rapadilino syndrome | 4 tests |
| Rapp-Hodgkin ectodermal dysplasia syndrome | 2 tests |
| Rasopathy | 1 test |
| Relative macrocephaly | 1 test |
| Renal carnitine transport defect | 3 tests |
| Renal cell carcinoma, nonpapillary | 2 tests |
| Renal cell carcinoma, papillary, 1 | 1 test |
| Renal tubular acidosis with progressive nerve deafness | 1 test |
| Respiratory failure | 1 test |
| Retinal dystrophy | 1 test |
| Retinitis pigmentosa | 1 test |
| Retinitis pigmentosa 73 | 2 tests |
| Rett syndrome | 6 tests |
| Revesz syndrome | 1 test |
| Rhabdomyosarcoma, embryonal, 2 | 1 test |
| Ring chromosome 1 | 1 test |
| Ring chromosome 10 | 1 test |
| Ring chromosome 12 | 1 test |
| Ring chromosome 13 | 1 test |
| Ring chromosome 14 | 1 test |
| Ring chromosome 15 | 1 test |
| Ring chromosome 18 | 1 test |
| Ring chromosome 19 | 1 test |
| Ring chromosome 20 syndrome | 1 test |
| Ring chromosome 21 | 1 test |
| Ring chromosome 22 | 1 test |
| Ring chromosome 6 | 1 test |
| Ring chromosome 7 | 1 test |
| Ring chromosome 9 | 1 test |
| Roberts-SC phocomelia syndrome | 2 tests |
| Robinow syndrome, autosomal dominant 1 | 1 test |
| Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked | 2 tests |
| Round face | 1 test |
| Roussy-Lévy syndrome | 1 test |
| Rubinstein-Taybi syndrome due to 16p13.3 microdeletion | 1 test |
| Russell-Silver syndrome | 1 test |
| Saethre-Chotzen syndrome | 1 test |
| Scaphocephaly, maxillary retrusion, and mental retardation | 1 test |
| Schinzel phocomelia syndrome | 2 tests |
| Schwannomatosis | 2 tests |
| Schwannomatosis 1 | 1 test |
| Schwannomatosis 2 | 1 test |
| Schwartz-Jampel syndrome | 1 test |
| Scoliosis | 1 test |
| Seckel syndrome | 1 test |
| Seizures | 1 test |
| Seizures, benign familial infantile, 2 | 2 tests |
| Seizures, benign familial infantile, 3 | 5 tests |
| Sensorineural hearing loss | 4 tests |
| Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome | 2 tests |
| Severe X-linked myotubular myopathy | 1 test |
| Severe achondroplasia with developmental delay and acanthosis nigricans | 1 test |
| Severe congenital neutropenia | 1 test |
| Severe myoclonic epilepsy in infancy | 1 test |
| Short columella | 1 test |
| Short neck | 1 test |
| Short nose | 1 test |
| Short-rib thoracic dysplasia 1 with or without polydactyly | 1 test |
| Shprintzen syndrome | 1 test |
| Shprintzen-Goldberg syndrome | 1 test |
| Shwachman-Diamond syndrome 1 | 2 tests |
| Sideroblastic anemia | 2 tests |
| Simpson-Golabi-Behmel syndrome type 1 | 1 test |
| Sinoatrial node dysfunction and deafness | 1 test |
| Skeletal dysplasia | 2 tests |
| Skeletal muscle atrophy | 1 test |
| Slender nose | 1 test |
| Small fiber neuropathy | 1 test |
| Smith-Lemli-Opitz syndrome | 2 tests |
| Smooth philtrum | 1 test |
| Sodium serum level quantitative trait locus 1 | 1 test |
| Sotos syndrome | 1 test |
| Spastic ataxia | 2 tests |
| Spastic paraplegia 49, autosomal recessive | 1 test |
| Spastic tetraplegia | 1 test |
| Spermatogenic failure 8 | 1 test |
| Sphingolipid activator protein 1 deficiency | 1 test |
| Spinal muscular atrophy | 1 test |
| Spinal muscular atrophy, X-linked 2 | 1 test |
| Spinocerebellar ataxia 7 | 2 tests |
| Spinocerebellar ataxia type 1 | 3 tests |
| Spinocerebellar ataxia type 2 | 2 tests |
| Spinocerebellar ataxia type 6 | 3 tests |
| Spinocerebellar ataxia type 8 | 2 tests |
| Spinocerebellar atrophy | 2 tests |
| Split-hand/foot malformation 4 | 2 tests |
| Spondyloepiphyseal dysplasia Maroteaux type | 1 test |
| Spondyloepiphyseal dysplasia congenita | 1 test |
| Spondylometaphyseal dysplasia, Kozlowski type | 1 test |
| Spongy degeneration of central nervous system | 1 test |
| Stargardt Disease 3 | 1 test |
| Stargardt disease | 2 tests |
| Steinert myotonic dystrophy syndrome | 2 tests |
| Stickler syndrome | 4 tests |
| Subacute neuronopathic Gaucher's disease | 1 test |
| Subcortical band heterotopia | 2 tests |
| Sudden cardiac arrest | 3 tests |
| Susceptibility to strabismus | 1 test |
| TNF receptor-associated periodic fever syndrome (TRAPS) | 3 tests |
| Tay-Sachs disease | 1 test |
| Temple syndrome | 1 test |
| Tetraamelia, autosomal recessive | 1 test |
| Tetrasomy 18p | 1 test |
| Tetrasomy 9p | 1 test |
| Thanatophoric dysplasia type 1 | 1 test |
| Thanatophoric dysplasia, type 2 | 1 test |
| Thin upper lip vermilion | 1 test |
| Thrombocytopenia 5 | 1 test |
| Thyrotoxic periodic paralysis, susceptibility to, 1 | 1 test |
| Townes syndrome | 2 tests |
| Townes-Brocks syndrome 1 | 2 tests |
| Triangular face | 1 test |
| Trisomy 10p | 1 test |
| Trisomy 12p | 1 test |
| Trisomy 17p | 1 test |
| Trisomy 20p | 1 test |
| Trisomy 8p | 1 test |
| Trisomy 8q | 1 test |
| Tuberous sclerosis 1 | 5 tests |
| Tuberous sclerosis 2 | 6 tests |
| Tuberous sclerosis syndrome | 4 tests |
| Turcot syndrome | 6 tests |
| Type III lissencephaly | 1 test |
| Tyrosinemia type 3 | 1 test |
| Tyrosinemia type I | 1 test |
| Tyrosinemia type II | 1 test |
| UV-sensitive syndrome 1 | 1 test |
| Ullrich congenital muscular dystrophy 1 | 1 test |
| Ulnar-mammary syndrome | 1 test |
| Umbilical hernia | 1 test |
| Uniparental disomy of 11 | 1 test |
| Uniparental disomy of 7 | 1 test |
| Uniparental disomy of chromosome 6 | 1 test |
| Usher Syndrome, Type III | 1 test |
| Usher syndrome | 2 tests |
| Usher syndrome type 1 | 1 test |
| Usher syndrome, type 1C | 1 test |
| Usher syndrome, type 1J | 1 test |
| Usher syndrome, type 2A | 1 test |
| Usher syndrome, type 2C | 1 test |
| Usher syndrome, type 2D | 1 test |
| Very long chain acyl-CoA dehydrogenase deficiency | 1 test |
| Visceral myopathy | 3 tests |
| Vitamin B12-responsive methylmalonic acidemia type cblA | 1 test |
| Vitamin B12-responsive methylmalonic acidemia type cblB | 2 tests |
| Von Hippel-Lindau syndrome | 7 tests |
| Walker-Warburg congenital muscular dystrophy | 2 tests |
| Warburg micro syndrome | 1 test |
| West syndrome | 3 tests |
| Wide mouth | 1 test |
| Wide nasal bridge | 1 test |
| Wieacker-Wolff syndrome, female-restricted | 1 test |
| Wilms tumor 1 | 1 test |
| Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome | 1 test |
| Wilson disease | 2 tests |
| Wolff-Parkinson-White syndrome | 3 tests |
| Wolfram syndrome | 2 tests |
| X chromosome, duplication Xq13 1 q21 1 | 1 test |
| X chromosome, monosomy Xq28 | 1 test |
| X chromosome, trisomy Xp3 | 1 test |
| X chromosome, trisomy Xpter Xq13 | 1 test |
| X chromosome, trisomy Xq25 | 1 test |
| X-linked mental retardation with marfanoid habitus syndrome | 2 tests |
| X-linked retinitis pigmentosa | 1 test |
| Xeroderma pigmentosum, group G | 1 test |
| Y chromosome deletions | 1 test |
| Y chromosome-related disorders | 1 test |
| ZTTK syndrome | 2 tests |
| alpha-Dystroglycan related dystrophy | 3 tests |
| progressive | 1 test |
| short QT syndrome | 4 tests |