Mayo Clinic Laboratories (Mayo Clinic)
General information
Mayo Clinic Laboratories
Mayo Clinic
3050 Superior Drive NW
Rochester
Minnesota
United States - 55901
https://www.mayocliniclabs.com/
Organization ID: 500068
Mayo Clinic
3050 Superior Drive NW
Rochester
Minnesota
United States - 55901
https://www.mayocliniclabs.com/
Organization ID: 500068
Personnel
- Genetic Counselor, Genetic Counselor
Phone: 507-284-0204
Email: gcmolgen@mayo.edu - Erik Thorland, Lab Director
Phone: 507-284-9617
Email: thorland.erik@mayo.edu
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 12832
Gene
Gene | Submissions | Last Updated |
---|---|---|
AAAS | 3 | Dec 21, 2023 |
AARS1 | 9 | Jan 5, 2024 |
AARS2 | 9 | May 23, 2018 |
AASS | 7 | May 23, 2018 |
ABAT | 16 | Jul 7, 2022 |
ABCA1 | 20 | Jan 5, 2024 |
ABCB11 | 20 | Dec 21, 2023 |
ABCB4 | 18 | Jan 5, 2024 |
ABCB6 | 3 | Dec 21, 2023 |
ABCB7 | 9 | Oct 15, 2018 |
ABCC2 | 26 | Jan 5, 2024 |
ABCC8 | 1 | Feb 28, 2018 |
ABCC9 | 5 | Dec 21, 2023 |
ABCD1 | 19 | Dec 21, 2023 |
ABCD2 | 2 | May 23, 2018 |
ABCD3 | 3 | May 23, 2018 |
ABCD4 | 1 | Dec 21, 2023 |
ABCG5 | 22 | Jan 5, 2024 |
ABCG8 | 33 | Jan 5, 2024 |
ABHD12 | 2 | Dec 21, 2023 |
ABHD14A-ACY1 | 6 | Dec 21, 2023 |
ACACA | 13 | Dec 21, 2023 |
ACAD8 | 1 | Dec 21, 2023 |
ACAD9 | 13 | Dec 21, 2023 |
ACADM | 5 | Jan 5, 2024 |
ACADS | 4 | Dec 21, 2023 |
ACADSB | 1 | Dec 21, 2023 |
ACADVL | 16 | Jan 5, 2024 |
ACO2 | 8 | Dec 21, 2023 |
ACOX1 | 11 | Dec 21, 2023 |
ACOX2 | 1 | Jul 18, 2018 |
ACOX3 | 12 | Sep 15, 2023 |
ACP2 | 5 | May 23, 2018 |
ACSF3 | 4 | Jan 5, 2024 |
ACTA2 | 2 | Dec 21, 2023 |
ACTA2-AS1 | 1 | May 26, 2021 |
ACTC1 | 2 | Dec 21, 2023 |
ACTN2 | 15 | Dec 21, 2023 |
ACTN4 | 1 | Dec 21, 2023 |
ACVRL1 | 39 | Jan 5, 2024 |
ACY1 | 6 | Dec 21, 2023 |
ACYP1 | 2 | Jan 5, 2024 |
ADA | 4 | Dec 21, 2023 |
ADA2 | 3 | May 26, 2021 |
ADAM17 | 2 | Dec 21, 2023 |
ADAMTS10 | 2 | Dec 21, 2023 |
ADAMTS13 | 49 | Jan 5, 2024 |
ADAMTS17 | 2 | Dec 21, 2023 |
ADAMTS2 | 24 | Dec 21, 2023 |
ADAR | 1 | Feb 28, 2018 |
ADCY10 | 1 | Dec 21, 2023 |
ADCY6 | 7 | Dec 21, 2023 |
ADGRG1 | 6 | Dec 21, 2023 |
ADGRG6 | 8 | Dec 21, 2023 |
ADGRV1 | 11 | Dec 21, 2023 |
ADSL | 7 | Dec 21, 2023 |
AEBP1 | 6 | Dec 21, 2023 |
AFG3L2 | 12 | Sep 15, 2023 |
AGA | 10 | May 26, 2021 |
AGA-DT | 3 | May 23, 2018 |
AGK | 2 | May 23, 2018 |
AGL | 67 | Dec 21, 2023 |
AGO1 | 1 | Feb 28, 2018 |
AGPAT2 | 4 | Dec 21, 2023 |
AGPS | 4 | May 23, 2018 |
AGRN | 9 | Dec 21, 2023 |
AGXT | 4 | Jan 5, 2024 |
AHDC1 | 1 | Feb 28, 2018 |
AHNAK | 1 | Feb 28, 2018 |
AHNAK2 | 2 | Jul 18, 2018 |
AIFM1 | 11 | Dec 21, 2023 |
AK1 | 2 | Dec 21, 2023 |
AKAP9 | 14 | Dec 21, 2023 |
AKR1D1 | 2 | Dec 21, 2023 |
AKT2 | 1 | Dec 21, 2023 |
ALAD | 1 | Dec 21, 2023 |
ALAS2 | 2 | Dec 21, 2023 |
ALDH18A1 | 2 | Dec 21, 2023 |
ALDH3A2 | 11 | May 23, 2018 |
ALDH5A1 | 3 | Dec 21, 2023 |
ALDH7A1 | 2 | Dec 21, 2023 |
ALDOA | 14 | Jan 5, 2024 |
ALDOB | 4 | Jan 5, 2024 |
ALG1 | 2 | Dec 21, 2023 |
ALG12 | 1 | Feb 28, 2018 |
ALG13 | 3 | Dec 21, 2023 |
ALG2 | 1 | Dec 21, 2023 |
ALG8 | 4 | Dec 21, 2023 |
ALG9 | 1 | Dec 21, 2023 |
ALPK3 | 2 | Dec 21, 2023 |
ALPL | 1 | Dec 21, 2023 |
ALS2 | 2 | Dec 21, 2023 |
AMACR | 22 | Dec 21, 2023 |
AMN | 1 | Dec 21, 2023 |
AMPD1 | 8 | May 23, 2018 |
AMPD2 | 1 | Dec 21, 2023 |
AMT | 1 | May 26, 2021 |
ANAPC15 | 2 | Dec 21, 2023 |
ANG | 1 | Jan 5, 2024 |
ANK1 | 87 | Jan 5, 2024 |
ANK2 | 16 | Dec 21, 2023 |
ANK3 | 1 | Feb 28, 2018 |
ANKRD1 | 3 | Jul 7, 2022 |
ANKRD11 | 2 | Feb 28, 2018 |
ANKS6 | 2 | Dec 21, 2023 |
ANO10 | 1 | Dec 21, 2023 |
ANO5 | 14 | Jan 5, 2024 |
AOPEP | 6 | Dec 21, 2023 |
AP3B1 | 6 | Dec 21, 2023 |
AP4B1 | 4 | Jul 7, 2022 |
AP4B1-AS1 | 3 | Jul 7, 2022 |
AP4E1 | 5 | Sep 15, 2023 |
AP4M1 | 10 | Dec 21, 2023 |
AP4S1 | 4 | Jul 7, 2022 |
AP5Z1 | 25 | Jan 5, 2024 |
APC | 222 | Jan 5, 2024 |
APOA1 | 3 | May 26, 2021 |
APOA1-AS | 3 | May 26, 2021 |
APOA5 | 1 | Dec 21, 2023 |
APOB | 25 | Jan 5, 2024 |
APTX | 10 | Sep 15, 2023 |
ARFGEF2 | 11 | Dec 21, 2023 |
ARHGAP35 | 1 | Feb 28, 2018 |
ARHGEF10 | 23 | Jan 5, 2024 |
ARHGEF9 | 1 | Jul 7, 2022 |
ARSA | 23 | Jan 5, 2024 |
ARSB | 17 | Dec 21, 2023 |
ARSH | 15 | May 23, 2018 |
ARSL | 1 | Feb 28, 2018 |
ARX | 2 | Dec 21, 2023 |
ASAH1 | 22 | Dec 21, 2023 |
ASIC4-AS1 | 12 | Dec 21, 2023 |
ASL | 2 | Jul 7, 2022 |
ASPM | 2 | Feb 28, 2018 |
ASS1 | 1 | Jun 9, 2022 |
ASTN2 | 8 | Dec 21, 2023 |
ASXL3 | 1 | Feb 28, 2018 |
ATL1 | 5 | Dec 21, 2023 |
ATL3 | 1 | Dec 21, 2023 |
ATM | 52 | Jan 22, 2024 |
ATN1 | 1 | Dec 21, 2023 |
ATP13A2 | 39 | Jan 5, 2024 |
ATP1A2 | 4 | Dec 21, 2023 |
ATP2A1 | 4 | Dec 21, 2023 |
ATP2C2 | 1 | Feb 28, 2018 |
ATP5F1A | 7 | May 23, 2018 |
ATP5MC3 | 1 | May 23, 2018 |
ATP7A | 12 | Dec 21, 2023 |
ATP7B | 170 | Jan 5, 2024 |
ATP8A2 | 2 | Dec 21, 2023 |
ATP8B1 | 6 | Jan 5, 2024 |
ATP8B1-AS1 | 1 | Dec 21, 2023 |
ATPAF2 | 3 | May 23, 2018 |
ATRX | 2 | Jul 7, 2022 |
AUH | 10 | Jun 9, 2022 |
AUTS2 | 1 | Feb 28, 2018 |
AXIN2 | 29 | Dec 21, 2023 |
B3GALT6 | 3 | Dec 21, 2023 |
B3GAT3 | 3 | Dec 21, 2023 |
B3GLCT | 1 | Feb 28, 2018 |
B4GALNT1 | 11 | Jan 5, 2024 |
B4GALT7 | 3 | Dec 21, 2023 |
B4GAT1 | 2 | Jul 7, 2022 |
BAAT | 2 | Dec 21, 2023 |
BAG3 | 11 | Dec 21, 2023 |
BAP1 | 2 | Dec 21, 2023 |
BARD1 | 3 | Dec 21, 2023 |
BBS1 | 1 | Feb 28, 2018 |
BCKDHA | 1 | Jul 7, 2022 |
BCKDHB | 3 | Jul 7, 2022 |
BCKDK | 1 | Dec 21, 2023 |
BCS1L | 7 | Dec 21, 2023 |
BDP1 | 5 | Dec 21, 2023 |
BICC1 | 1 | Dec 21, 2023 |
BICD2 | 3 | Dec 21, 2023 |
BIN1 | 4 | Dec 21, 2023 |
BLM | 3 | Dec 21, 2023 |
BLNK | 2 | May 26, 2021 |
BMP1 | 1 | Dec 21, 2023 |
BMPR1A | 13 | Dec 21, 2023 |
BMPR2 | 1 | Feb 28, 2018 |
BOLA3 | 3 | May 26, 2021 |
BRAF | 5 | Dec 21, 2023 |
BRCA1 | 102 | Jan 5, 2024 |
BRCA2 | 174 | Jan 5, 2024 |
BRIP1 | 4 | Dec 21, 2023 |
BSCL2 | 10 | Dec 21, 2023 |
BSND | 1 | Dec 21, 2023 |
BTD | 1 | Dec 21, 2023 |
BTK | 2 | May 26, 2021 |
BVES | 5 | Dec 21, 2023 |
C11orf65 | 22 | Jan 5, 2024 |
C12orf57 | 2 | Dec 21, 2023 |
C17orf107 | 1 | Dec 21, 2023 |
C1QTNF3-AMACR | 22 | Dec 21, 2023 |
C2CD3 | 1 | Dec 21, 2023 |
C3 | 39 | Jan 5, 2024 |
C5 | 1 | Feb 28, 2018 |
CA5A | 8 | May 23, 2018 |
CABP2 | 1 | Dec 21, 2023 |
CACNA1A | 14 | Dec 21, 2023 |
CACNA1C | 10 | Jan 5, 2024 |
CACNA1C-AS1 | 2 | Dec 21, 2023 |
CACNA1D | 1 | Dec 21, 2023 |
CACNA1E | 2 | Dec 21, 2023 |
CACNA1H | 3 | Dec 21, 2023 |
CACNA1S | 14 | Dec 21, 2023 |
CACNA2D1 | 1 | May 26, 2021 |
CACNA2D2 | 3 | Dec 21, 2023 |
CACNB2 | 3 | Dec 21, 2023 |
CACNB4 | 2 | Jul 18, 2018 |
CAD | 3 | Dec 21, 2023 |
CADPS | 1 | Feb 28, 2018 |
CAPN1 | 1 | Dec 21, 2023 |
CAPN3 | 12 | Dec 21, 2023 |
CARD11 | 2 | Sep 15, 2023 |
CARD14 | 21 | Dec 21, 2023 |
CARS2 | 2 | Dec 21, 2023 |
CASQ1 | 1 | Feb 28, 2018 |
CASR | 14 | Dec 21, 2023 |
CAT | 4 | May 23, 2018 |
CATIP-AS2 | 4 | May 23, 2018 |
CAV3 | 5 | Jul 7, 2022 |
CAVIN1 | 3 | Jan 5, 2024 |
CBL | 3 | Dec 21, 2023 |
CBLIF | 1 | Dec 21, 2023 |
CBS | 14 | Jan 5, 2024 |
CC2D2A | 10 | Dec 21, 2023 |
CCDC103 | 3 | Dec 21, 2023 |
CCDC40 | 2 | Dec 21, 2023 |
CCDC88C | 1 | Dec 21, 2023 |
CCDST | 2 | Feb 28, 2018 |
CCNF | 1 | Dec 21, 2023 |
CCNH | 2 | Dec 21, 2023 |
CCNO | 1 | Feb 28, 2018 |
CCT5 | 4 | Dec 21, 2023 |
CD19 | 1 | Dec 21, 2023 |
CD27 | 1 | May 26, 2021 |
CD27-AS1 | 1 | May 26, 2021 |
CD40LG | 1 | May 26, 2021 |
CD46 | 19 | Jan 5, 2024 |
CD59 | 3 | May 26, 2021 |
CD79A | 1 | Jul 7, 2022 |
CD79B | 1 | May 26, 2021 |
CDAN1 | 36 | Jan 5, 2024 |
CDC14A | 4 | Dec 21, 2023 |
CDH1 | 35 | Dec 21, 2023 |
CDH23 | 8 | Dec 21, 2023 |
CDHR1 | 1 | Feb 28, 2018 |
CDIN1 | 4 | Jan 5, 2024 |
CDK5RAP2 | 3 | Feb 28, 2018 |
CDKL5 | 1 | Jul 7, 2022 |
CDKN1B | 1 | Dec 21, 2023 |
CDKN2A | 1 | Dec 21, 2023 |
CEACAM16 | 2 | Dec 21, 2023 |
CEACAM16-AS1 | 2 | Dec 21, 2023 |
CENPT | 1 | Jul 7, 2022 |
CEP164 | 1 | Dec 21, 2023 |
CEP290 | 1 | Feb 28, 2018 |
CEP63 | 1 | May 26, 2021 |
CEP78 | 2 | Dec 21, 2023 |
CEP83 | 1 | Dec 21, 2023 |
CEP85L | 2 | Dec 21, 2023 |
CERS1 | 2 | May 26, 2021 |
CFB | 7 | Dec 21, 2023 |
CFD | 9 | Dec 21, 2023 |
CFH | 61 | Jan 5, 2024 |
CFHR1 | 9 | Jan 5, 2024 |
CFHR2 | 6 | Dec 21, 2023 |
CFHR3 | 9 | Jan 5, 2024 |
CFHR4 | 6 | Dec 21, 2023 |
CFHR5 | 24 | Dec 21, 2023 |
CFI | 32 | Jan 5, 2024 |
CFL2 | 2 | Dec 21, 2023 |
CFTR | 220 | Feb 2, 2024 |
CFTR-AS1 | 17 | Jan 5, 2024 |
CHAT | 15 | Jul 7, 2022 |
CHCHD10 | 1 | Dec 21, 2023 |
CHD2 | 2 | Dec 21, 2023 |
CHD3 | 1 | Feb 28, 2018 |
CHD7 | 7 | Dec 21, 2023 |
CHEK2 | 17 | Jan 5, 2024 |
CHIT1 | 16 | May 23, 2018 |
CHKB | 1 | Feb 28, 2018 |
CHKB-CPT1B | 1 | Feb 28, 2018 |
CHMP2B | 1 | Dec 21, 2023 |
CHPT1 | 3 | Jul 7, 2022 |
CHRNA2 | 3 | May 26, 2021 |
CHRNA4 | 7 | Dec 21, 2023 |
CHRNB2 | 1 | Dec 21, 2023 |
CHRND | 1 | Dec 21, 2023 |
CHRNE | 2 | Dec 21, 2023 |
CHRNG | 1 | Feb 28, 2018 |
CHST14 | 6 | Dec 21, 2023 |
CHST6 | 1 | Feb 28, 2018 |
CHST8 | 2 | Jul 7, 2022 |
CHSY1 | 1 | Dec 21, 2023 |
CIB2 | 2 | Dec 21, 2023 |
CIDEC | 2 | Dec 21, 2023 |
CIITA | 1 | Dec 21, 2023 |
CLCF1 | 5 | Jul 7, 2022 |
CLCN1 | 10 | Dec 21, 2023 |
CLCNKA | 1 | Dec 21, 2023 |
CLDN14 | 1 | Dec 21, 2023 |
CLDN14-AS1 | 1 | Dec 21, 2023 |
CLN3 | 11 | Jan 5, 2024 |
CLN5 | 17 | Jul 7, 2022 |
CLN6 | 11 | Sep 15, 2023 |
CLN8 | 5 | Dec 21, 2023 |
CLPB | 2 | Dec 21, 2023 |
CLPP | 6 | Dec 21, 2023 |
CLPX | 1 | Dec 21, 2023 |
CNTN1 | 2 | Dec 21, 2023 |
CNTN2 | 1 | Feb 28, 2018 |
CNTNAP1 | 19 | Dec 21, 2023 |
CNTNAP2 | 11 | Dec 21, 2023 |
COA5 | 2 | May 23, 2018 |
COA6 | 2 | May 23, 2018 |
COA8 | 7 | Jan 5, 2024 |
COCH | 1 | Dec 21, 2023 |
COG4 | 1 | May 26, 2021 |
COG5 | 1 | May 26, 2021 |
COG7 | 7 | Dec 21, 2023 |
COG8 | 3 | Dec 21, 2023 |
COL11A1 | 3 | Dec 21, 2023 |
COL11A2 | 3 | Dec 21, 2023 |
COL12A1 | 18 | Dec 21, 2023 |
COL13A1 | 2 | Dec 21, 2023 |
COL1A1 | 31 | Jan 5, 2024 |
COL1A2 | 16 | Jan 5, 2024 |
COL27A1 | 1 | Feb 28, 2018 |
COL2A1 | 2 | Dec 21, 2023 |
COL3A1 | 25 | Jan 5, 2024 |
COL4A1 | 11 | Dec 21, 2023 |
COL4A2 | 1 | Dec 21, 2023 |
COL4A3 | 9 | Dec 21, 2023 |
COL4A4 | 6 | Dec 21, 2023 |
COL4A5 | 5 | Dec 21, 2023 |
COL4A6 | 1 | Dec 21, 2023 |
COL5A1 | 55 | Jan 5, 2024 |
COL5A2 | 25 | Jan 5, 2024 |
COL6A1 | 13 | Jan 5, 2024 |
COL6A2 | 14 | Jan 5, 2024 |
COL6A3 | 18 | Dec 21, 2023 |
COL9A1 | 3 | Dec 21, 2023 |
COL9A2 | 1 | Feb 28, 2018 |
COL9A3 | 2 | Dec 21, 2023 |
COLQ | 2 | Feb 28, 2018 |
COQ2 | 7 | Jan 5, 2024 |
COQ4 | 9 | Dec 21, 2023 |
COQ6 | 10 | Jan 5, 2024 |
COQ7 | 1 | Dec 21, 2023 |
COQ8A | 16 | Dec 21, 2023 |
COQ8B | 12 | May 23, 2018 |
COQ9 | 4 | May 26, 2021 |
CORO1A | 1 | Dec 21, 2023 |
COX10 | 19 | Dec 21, 2023 |
COX14 | 1 | May 23, 2018 |
COX15 | 4 | Dec 21, 2023 |
COX20 | 3 | May 23, 2018 |
COX4I2 | 1 | May 23, 2018 |
COX6B1 | 1 | May 23, 2018 |
COX7B | 2 | May 23, 2018 |
CP | 1 | Dec 21, 2023 |
CPA6 | 1 | Jul 7, 2022 |
CPLANE1 | 1 | Dec 21, 2023 |
CPOX | 7 | Dec 21, 2023 |
CPS1 | 1 | Dec 21, 2023 |
CPT2 | 19 | Jan 5, 2024 |
CR2 | 3 | Dec 21, 2023 |
CRB2 | 7 | Dec 21, 2023 |
CRLF1 | 5 | Dec 21, 2023 |
CRPPA | 2 | Jan 5, 2024 |
CRPPA-AS1 | 1 | Jan 5, 2024 |
CRTAP | 3 | Dec 21, 2023 |
CRYAB | 3 | Dec 21, 2023 |
CSF1R | 3 | Dec 21, 2023 |
CSF2RA | 1 | Jul 7, 2022 |
CSF3R | 10 | Dec 21, 2023 |
CSNK2B | 2 | Jul 18, 2018 |
CSPP1 | 1 | Dec 21, 2023 |
CSRP3 | 3 | Dec 21, 2023 |
CSTB | 2 | Dec 21, 2023 |
CTC1 | 8 | Dec 21, 2023 |
CTCF | 1 | Jul 18, 2018 |
CTDP1 | 21 | Dec 21, 2023 |
CTLA4 | 1 | May 26, 2021 |
CTNNB1 | 1 | Jul 18, 2018 |
CTNS | 12 | Jul 7, 2022 |
CTNS-AS1 | 6 | Jul 7, 2022 |
CTRC | 21 | Jan 5, 2024 |
CTSA | 18 | Dec 21, 2023 |
CTSD | 13 | Jul 7, 2022 |
CTSF | 15 | Jan 5, 2024 |
CTSK | 1 | May 23, 2018 |
CUBN | 11 | Dec 21, 2023 |
CXCR4 | 5 | Jul 7, 2022 |
CYB561D2 | 2 | Dec 21, 2023 |
CYBB | 2 | Dec 21, 2023 |
CYC1 | 5 | May 23, 2018 |
CYLD-AS1 | 1 | May 26, 2021 |
CYP21A2 | 1 | Dec 21, 2023 |
CYP24A1 | 2 | Dec 21, 2023 |
CYP27A1 | 9 | Dec 21, 2023 |
CYP2R1 | 2 | Dec 21, 2023 |
CYP2U1 | 7 | Dec 21, 2023 |
CYP2U1-AS1 | 3 | Dec 21, 2023 |
CYP7A1 | 3 | Dec 21, 2023 |
CYP7B1 | 10 | Jan 5, 2024 |
D2HGDH | 15 | Dec 21, 2023 |
DAG1 | 1 | Dec 21, 2023 |
DARS2 | 29 | Dec 21, 2023 |
DBNL | 7 | Jul 7, 2022 |
DCDC2 | 2 | Dec 21, 2023 |
DCLRE1C | 4 | Jul 7, 2022 |
DCTN1 | 5 | Dec 21, 2023 |
DCX | 2 | May 26, 2021 |
DDHD1 | 12 | Jan 5, 2024 |
DDHD2 | 7 | Dec 21, 2023 |
DDX3X | 1 | Feb 28, 2018 |
DEPDC5 | 9 | Dec 21, 2023 |
DES | 8 | Dec 21, 2023 |
DGAT1 | 1 | Feb 28, 2018 |
DGKE | 6 | Dec 21, 2023 |
DGUOK | 11 | Jan 5, 2024 |
DGUOK-AS1 | 1 | Jan 5, 2024 |
DHCR7 | 3 | Dec 21, 2023 |
DHDDS | 1 | May 26, 2021 |
DHH | 6 | Dec 21, 2023 |
DHTKD1 | 17 | Jan 5, 2024 |
DIAPH1 | 3 | Dec 21, 2023 |
DICER1 | 2 | Dec 21, 2023 |
DIS3L2 | 1 | Dec 21, 2023 |
DKC1 | 2 | May 26, 2021 |
DLAT | 12 | May 23, 2018 |
DLD | 12 | Dec 21, 2023 |
DMAC2L | 3 | May 23, 2018 |
DMD | 20 | Dec 21, 2023 |
DMP1 | 2 | Dec 21, 2023 |
DMXL2 | 2 | Dec 21, 2023 |
DNA2 | 11 | May 23, 2018 |
DNAAF1 | 1 | Feb 28, 2018 |
DNAAF2 | 1 | Dec 21, 2023 |
DNAAF3 | 2 | Dec 21, 2023 |
DNAAF3-AS1 | 2 | Dec 21, 2023 |
DNAAF6 | 1 | Jul 18, 2018 |
DNAH1 | 6 | Dec 21, 2023 |
DNAH11 | 5 | Dec 21, 2023 |
DNAH5 | 5 | Dec 21, 2023 |
DNAH8 | 5 | Dec 21, 2023 |
DNAH8-AS1 | 1 | Dec 21, 2023 |
DNAI2 | 1 | Jul 16, 2018 |
DNAJB11 | 1 | Dec 21, 2023 |
DNAJB13 | 1 | Dec 21, 2023 |
DNAJB2 | 1 | May 26, 2021 |
DNAJB6 | 1 | Jul 7, 2022 |
DNAJC12 | 3 | Dec 21, 2023 |
DNAJC19 | 2 | May 23, 2018 |
DNAJC21 | 2 | Dec 21, 2023 |
DNAJC5 | 5 | May 23, 2018 |
DNAJC6 | 1 | Dec 21, 2023 |
DNAJC9-AS1 | 2 | May 23, 2018 |
DNASE1 | 5 | May 23, 2018 |
DNM1L | 9 | May 23, 2018 |
DNM2 | 8 | Jan 5, 2024 |
DNMT1 | 6 | Sep 15, 2023 |
DOCK3 | 1 | Feb 28, 2018 |
DOCK7 | 12 | Dec 21, 2023 |
DOCK8 | 7 | Jan 5, 2024 |
DOK7 | 7 | Dec 21, 2023 |
DPAGT1 | 4 | Dec 21, 2023 |
DPM1 | 3 | Dec 21, 2023 |
DRC1 | 1 | Feb 28, 2018 |
DSC2 | 7 | Dec 21, 2023 |
DSCAS | 1 | Dec 21, 2023 |
DSE | 2 | Dec 21, 2023 |
DSG2 | 11 | Jan 5, 2024 |
DSG2-AS1 | 6 | Dec 21, 2023 |
DSP | 29 | Jan 5, 2024 |
DST | 61 | Jan 5, 2024 |
DTNA | 4 | Dec 21, 2023 |
DUOX2 | 1 | Feb 28, 2018 |
DUOXA2 | 1 | Feb 28, 2018 |
DYNC1H1 | 10 | Dec 21, 2023 |
DYNC2H1 | 1 | Dec 21, 2023 |
DYNC2LI1 | 16 | Dec 21, 2023 |
DYRK1A | 1 | Jul 7, 2022 |
DYSF | 39 | Jan 5, 2024 |
EARS2 | 10 | May 23, 2018 |
EBF3 | 1 | Feb 28, 2018 |
ECH1 | 7 | May 23, 2018 |
EDNRB | 1 | Feb 28, 2018 |
EDNRB-AS1 | 1 | Feb 28, 2018 |
EEF1A2 | 3 | Jul 7, 2022 |
EFEMP2 | 2 | Dec 21, 2023 |
EGILA | 1 | Jan 5, 2024 |
EGR2 | 8 | Dec 21, 2023 |
EHHADH | 4 | Dec 21, 2023 |
EHMT1 | 1 | Dec 21, 2023 |
EIF4G1 | 1 | Dec 21, 2023 |
ELAC2 | 14 | Jan 5, 2024 |
ELANE | 11 | Jan 5, 2024 |
ELN | 1 | Feb 28, 2018 |
ELP1 | 13 | Jan 5, 2024 |
ENG | 63 | Jan 5, 2024 |
ENO3 | 12 | Sep 15, 2023 |
ENPP1 | 2 | Feb 28, 2018 |
ENTPD1 | 1 | Feb 28, 2018 |
ENTPD1-AS1 | 1 | Feb 28, 2018 |
ENTPD5 | 9 | Jan 5, 2024 |
EPB41 | 16 | Jan 5, 2024 |
EPB42 | 31 | Jan 5, 2024 |
EPHB1 | 1 | May 26, 2021 |
EPM2A | 16 | Jan 5, 2024 |
EPM2A-DT | 8 | Dec 21, 2023 |
EPS8L2 | 2 | Dec 21, 2023 |
ERBB3 | 9 | Dec 21, 2023 |
ERCC6 | 20 | Jan 5, 2024 |
ERCC8 | 11 | Jan 5, 2024 |
ERLIN2 | 3 | Dec 21, 2023 |
ESPN | 1 | Dec 21, 2023 |
ESR1 | 1 | Dec 21, 2023 |
ETFA | 2 | May 23, 2018 |
ETFB | 6 | Dec 21, 2023 |
ETFDH | 12 | Jul 7, 2022 |
ETHE1 | 5 | May 23, 2018 |
EVC | 1 | Feb 28, 2018 |
EXT2 | 2 | Feb 28, 2018 |
F10 | 3 | Dec 21, 2023 |
F11 | 11 | Jan 5, 2024 |
F11-AS1 | 2 | Dec 21, 2023 |
F12 | 2 | Dec 21, 2023 |
F13A1 | 3 | Sep 20, 2022 |
F13B | 2 | Dec 21, 2023 |
F2 | 1 | Dec 21, 2023 |
F5 | 1 | Dec 21, 2023 |
F7 | 19 | Jan 5, 2024 |
F8 | 32 | Jan 5, 2024 |
F9 | 6 | Dec 21, 2023 |
FA2H | 11 | Dec 21, 2023 |
FAH | 10 | Dec 21, 2023 |
FAM111B | 1 | Dec 21, 2023 |
FANCA | 48 | Jan 5, 2024 |
FANCC | 9 | Dec 21, 2023 |
FANCG | 5 | Dec 21, 2023 |
FANCI | 5 | Jul 7, 2022 |
FARS2 | 9 | Dec 21, 2023 |
FASTKD2 | 6 | Dec 21, 2023 |
FAT1 | 1 | Dec 21, 2023 |
FBLN5 | 4 | Jan 5, 2024 |
FBN1 | 57 | Jan 5, 2024 |
FBN2 | 14 | Dec 21, 2023 |
FBP1 | 4 | Dec 21, 2023 |
FBXL3 | 8 | Jul 7, 2022 |
FBXL4 | 11 | Dec 21, 2023 |
FBXO11 | 1 | Oct 31, 2017 |
FBXO38 | 3 | Dec 21, 2023 |
FBXO41 | 2 | Feb 28, 2018 |
FBXO7 | 2 | Dec 21, 2023 |
FBXW7 | 1 | Feb 28, 2018 |
FCSK | 1 | Dec 21, 2023 |
FDX2 | 1 | Dec 21, 2023 |
FDX2-ZGLP1 | 1 | Dec 21, 2023 |
FECH | 14 | Jan 5, 2024 |
FERMT3 | 1 | Jul 7, 2022 |
FGA | 9 | Jan 5, 2024 |
FGB | 5 | Dec 21, 2023 |
FGD1 | 2 | Jul 7, 2022 |
FGD4 | 8 | Dec 21, 2023 |
FGF14 | 2 | Dec 21, 2023 |
FGF3 | 1 | Dec 21, 2023 |
FGFR3 | 3 | Jul 7, 2022 |
FGG | 11 | Jan 5, 2024 |
FH | 8 | Dec 21, 2023 |
FIG4 | 18 | Jan 5, 2024 |
FKBP14 | 6 | Jan 5, 2024 |
FKBP14-AS1 | 6 | Jan 5, 2024 |
FKRP | 14 | Jan 5, 2024 |
FKTN | 10 | Dec 21, 2023 |
FLAD1 | 1 | Dec 21, 2023 |
FLCN | 26 | Jan 5, 2024 |
FLG | 2 | Feb 28, 2018 |
FLNA | 39 | Dec 21, 2023 |
FLNC | 21 | Dec 21, 2023 |
FLNC-AS1 | 7 | Dec 21, 2023 |
FLT3 | 1 | Oct 17, 2022 |
FLVCR1 | 5 | Dec 21, 2023 |
FMO3 | 1 | Dec 21, 2023 |
FN1 | 1 | Dec 21, 2023 |
FOLR1 | 2 | Dec 21, 2023 |
FOXC1 | 2 | Dec 21, 2023 |
FOXC2 | 1 | Feb 28, 2018 |
FOXG1 | 1 | Jul 7, 2022 |
FOXI1 | 1 | Dec 21, 2023 |
FOXP3 | 1 | May 26, 2021 |
FOXRED1 | 6 | Dec 21, 2023 |
FPGT-TNNI3K | 1 | Dec 21, 2023 |
FRAS1 | 3 | Dec 21, 2023 |
FREM2 | 1 | Dec 21, 2023 |
FRRS1L | 1 | Dec 21, 2023 |
FTCD | 1 | Dec 21, 2023 |
FUCA1 | 9 | Dec 21, 2023 |
FUS | 1 | May 23, 2022 |
FXN | 3 | May 23, 2018 |
G6PC1 | 13 | Jan 5, 2024 |
G6PC3 | 7 | Jan 5, 2024 |
G6PD | 16 | Dec 21, 2023 |
GAA | 77 | Jan 5, 2024 |
GABRB3 | 1 | Feb 28, 2018 |
GABRD | 1 | May 26, 2021 |
GABRG2 | 2 | Dec 21, 2023 |
GALC | 48 | Jan 5, 2024 |
GALE | 1 | May 26, 2021 |
GALNS | 35 | Dec 21, 2023 |
GALNT3 | 1 | Dec 21, 2023 |
GALT | 55 | Dec 21, 2023 |
GAMT | 5 | Jan 5, 2024 |
GAN | 5 | Dec 21, 2023 |
GAREM2 | 11 | Jan 5, 2024 |
GARS1 | 21 | Jan 5, 2024 |
GATA1 | 3 | Sep 20, 2022 |
GATA2 | 11 | Dec 21, 2023 |
GATA3 | 1 | Dec 21, 2023 |
GATAD1 | 6 | Dec 21, 2023 |
GATM | 1 | May 26, 2021 |
GBA1 | 26 | Jan 19, 2024 |
GBA2 | 9 | Jan 5, 2024 |
GBE1 | 32 | Jan 5, 2024 |
GBF1 | 2 | Dec 21, 2023 |
GCDH | 3 | May 23, 2018 |
GCLC | 7 | Jan 5, 2024 |
GCLC-AS1 | 1 | Sep 15, 2023 |
GDAP1 | 11 | Jan 5, 2024 |
GDF1 | 2 | May 26, 2021 |
GDF2 | 1 | Dec 21, 2023 |
GEMIN5 | 2 | Jul 18, 2018 |
GFAP | 18 | Dec 21, 2023 |
GFER | 6 | May 23, 2018 |
GFI1 | 3 | Dec 21, 2023 |
GFM1 | 12 | Dec 21, 2023 |
GFPT1 | 3 | Dec 21, 2023 |
GGA3 | 1 | Dec 21, 2023 |
GH-LCR | 11 | Dec 21, 2023 |
GHR | 2 | Feb 28, 2018 |
GIGYF2 | 1 | Dec 21, 2023 |
GJB1 | 7 | Dec 21, 2023 |
GJB2 | 6 | Dec 21, 2023 |
GJB3 | 1 | Sep 15, 2023 |
GJB6 | 2 | Dec 21, 2023 |
GJC2 | 6 | Jan 5, 2024 |
GJD2-DT | 2 | Dec 21, 2023 |
GLA | 13 | Jan 5, 2024 |
GLB1 | 18 | Jan 5, 2024 |
GLDC | 1 | Dec 21, 2023 |
GLIS2 | 1 | Dec 21, 2023 |
GLUL | 1 | Jul 7, 2022 |
GM2A | 7 | May 23, 2018 |
GMPPA | 4 | Dec 21, 2023 |
GMPPB | 3 | May 19, 2023 |
GNB4 | 4 | Dec 21, 2023 |
GNB5 | 1 | Dec 21, 2023 |
GNE | 6 | Jan 5, 2024 |
GNPAT | 5 | May 23, 2018 |
GNPTAB | 32 | Dec 21, 2023 |
GNPTG | 8 | Dec 21, 2023 |
GNS | 7 | Jul 7, 2022 |
GOSR2 | 2 | Dec 21, 2023 |
GPAA1 | 1 | Dec 21, 2023 |
GPC3 | 3 | Jul 7, 2022 |
GPD1L | 2 | Sep 15, 2023 |
GPHN | 1 | Dec 21, 2023 |
GPI | 14 | Jan 5, 2024 |
GPIHBP1 | 1 | Dec 21, 2023 |
GPR15 | 1 | Feb 28, 2018 |
GPT2 | 1 | Dec 21, 2023 |
GRIA3 | 1 | May 26, 2021 |
GRIN1 | 6 | May 27, 2021 |
GRIN2A | 6 | Dec 21, 2023 |
GRIN2B | 3 | Dec 21, 2023 |
GRM1 | 1 | Dec 21, 2023 |
GRN | 13 | Dec 21, 2023 |
GRXCR2 | 1 | Dec 21, 2023 |
GSDME | 1 | Jan 5, 2024 |
GSN | 2 | May 26, 2021 |
GSR | 17 | Jan 5, 2024 |
GSS | 20 | Jan 5, 2024 |
GUSB | 14 | Dec 21, 2023 |
GYG1 | 12 | Dec 21, 2023 |
GYPC | 7 | Jan 5, 2024 |
GYS1 | 5 | Dec 21, 2023 |
GYS2 | 15 | Dec 21, 2023 |
HADHA | 20 | Jan 5, 2024 |
HADHB | 10 | Dec 21, 2023 |
HARS1 | 9 | Jan 5, 2024 |
HARS2 | 2 | May 23, 2018 |
HAX1 | 7 | Jul 7, 2022 |
HBA-LCR | 3 | Dec 21, 2023 |
HBB | 18 | Dec 21, 2023 |
HBD | 3 | May 26, 2021 |
HCFC1 | 3 | Dec 21, 2023 |
HCN1 | 1 | Dec 21, 2023 |
HCN4 | 2 | Dec 21, 2023 |
HDAC6 | 1 | Feb 28, 2018 |
HDAC9 | 1 | Feb 28, 2018 |
HERC1 | 2 | Feb 28, 2018 |
HERC2 | 2 | Jul 18, 2018 |
HEXA | 12 | Dec 21, 2023 |
HEXB | 10 | Dec 21, 2023 |
HFE | 3 | Dec 21, 2023 |
HFE-AS1 | 1 | Mar 28, 2023 |
HGD | 1 | Jun 9, 2022 |
HGSNAT | 10 | Dec 21, 2023 |
HIBCH | 2 | May 23, 2018 |
HIC2 | 1 | Jul 18, 2018 |
HIF1A | 2 | Dec 21, 2023 |
HIF1A-AS3 | 2 | Dec 21, 2023 |
HIF3A | 1 | Dec 21, 2023 |
HK1 | 16 | Dec 21, 2023 |
HLCS | 1 | Feb 28, 2018 |
HMBS | 18 | Jan 5, 2024 |
HMOX1 | 7 | Jan 5, 2024 |
HNF1B | 3 | Dec 21, 2023 |
HNRNPA1 | 1 | Dec 21, 2023 |
HNRNPCL1 | 1 | Feb 28, 2018 |
HNRNPDL | 3 | Jan 5, 2024 |
HNRNPU | 1 | May 23, 2018 |
HNRNPUL2-BSCL2 | 10 | Dec 21, 2023 |
HOGA1 | 2 | May 26, 2021 |
HOXA2 | 2 | Dec 21, 2023 |
HOXB13 | 2 | Dec 21, 2023 |
HPSE2 | 1 | Feb 28, 2018 |
HRAS | 1 | May 26, 2021 |
HSALR1 | 50 | Jan 5, 2024 |
HSD17B4 | 24 | Dec 21, 2023 |
HSD3B7 | 5 | Dec 21, 2023 |
HSPB1 | 6 | Jan 5, 2024 |
HSPB3 | 1 | May 26, 2021 |
HSPD1 | 2 | Dec 21, 2023 |
HSPG2 | 2 | Jul 18, 2018 |
HTRA2 | 2 | Dec 21, 2023 |
HUWE1 | 1 | Feb 28, 2018 |
HYAL1 | 4 | Jul 7, 2022 |
HYCC1 | 10 | Jan 5, 2024 |
HYDIN | 1 | Feb 28, 2018 |
IAH1 | 2 | Dec 21, 2023 |
IARS2 | 8 | Dec 21, 2023 |
IBA57 | 10 | Dec 21, 2023 |
ICOS | 1 | May 26, 2021 |
IDH2 | 4 | May 23, 2018 |
IDH2-DT | 1 | May 23, 2018 |
IDS | 10 | May 23, 2018 |
IDUA | 33 | Dec 21, 2023 |
IER3IP1 | 1 | Jul 7, 2022 |
IFIH1 | 3 | Dec 21, 2023 |
IFNAR2-IL10RB | 6 | Dec 21, 2023 |
IFT172 | 1 | Dec 21, 2023 |
IGF1R | 1 | Feb 28, 2018 |
IGHMBP2 | 27 | Jan 5, 2024 |
IGLL1 | 2 | May 26, 2021 |
IKBKB | 2 | Feb 28, 2018 |
IKBKG | 3 | May 26, 2021 |
IL10 | 1 | Dec 21, 2023 |
IL10RA | 1 | Dec 21, 2023 |
IL10RB | 6 | Dec 21, 2023 |
IL19 | 1 | Dec 21, 2023 |
IL1RN | 1 | Jul 7, 2022 |
IL21R | 2 | Dec 21, 2023 |
IL21R-AS1 | 2 | Dec 21, 2023 |
IL36RN | 3 | Jan 5, 2024 |
IL7R | 1 | May 26, 2021 |
INF2 | 8 | Dec 21, 2023 |
INSL6 | 1 | Jul 16, 2018 |
INVS | 3 | Dec 21, 2023 |
ISCU | 7 | May 23, 2018 |
ISG15 | 4 | Dec 21, 2023 |
ITGA7 | 6 | Dec 21, 2023 |
ITGB2 | 6 | Dec 21, 2023 |
IVD | 1 | Jul 7, 2022 |
JAG1 | 6 | Dec 21, 2023 |
JAG2 | 2 | Dec 21, 2023 |
JAK2 | 1 | Jul 16, 2018 |
JAK3 | 1 | Dec 21, 2023 |
JPH2 | 1 | Dec 21, 2023 |
JUP | 4 | Dec 21, 2023 |
KANSL1 | 5 | Dec 21, 2023 |
KARS1 | 13 | Jan 5, 2024 |
KATNIP | 1 | Jan 5, 2024 |
KBTBD13 | 1 | Dec 21, 2023 |
KCNA1 | 1 | Dec 21, 2023 |
KCNB1 | 1 | May 26, 2021 |
KCNC1 | 3 | Dec 21, 2023 |
KCNE1 | 5 | Dec 21, 2023 |
KCNE3 | 2 | May 26, 2021 |
KCNH2 | 16 | Dec 21, 2023 |
KCNH5 | 2 | Dec 21, 2023 |
KCNJ10 | 5 | Jan 5, 2024 |
KCNJ18 | 1 | Dec 21, 2023 |
KCNJ2 | 4 | Dec 21, 2023 |
KCNJ5 | 1 | Dec 21, 2023 |
KCNJ8 | 1 | Dec 21, 2023 |
KCNK3 | 1 | Feb 28, 2018 |
KCNN4 | 2 | Dec 21, 2023 |
KCNQ1 | 23 | Dec 21, 2023 |
KCNQ2 | 10 | Dec 21, 2023 |
KCNQ3 | 6 | Dec 21, 2023 |
KCNT1 | 3 | May 23, 2022 |
KCTD7 | 8 | May 26, 2021 |
KDM5C | 1 | May 26, 2021 |
KDM6A | 2 | Dec 21, 2023 |
KIAA0586 | 2 | Feb 28, 2018 |
KIF11 | 1 | Feb 28, 2018 |
KIF12 | 1 | Dec 21, 2023 |
KIF1A | 13 | Jan 5, 2024 |
KIF1B | 12 | Dec 21, 2023 |
KIF22 | 1 | Feb 28, 2018 |
KIF23 | 15 | Dec 21, 2023 |
KIF23-AS1 | 1 | Jul 7, 2022 |
KIF5A | 6 | Dec 21, 2023 |
KIT | 4 | Dec 21, 2023 |
KITLG | 1 | Dec 21, 2023 |
KL | 1 | Dec 21, 2023 |
KLF1 | 9 | Jan 5, 2024 |
KLHL3 | 1 | Dec 21, 2023 |
KLHL40 | 6 | Dec 21, 2023 |
KLHL41 | 3 | Dec 21, 2023 |
KLLN | 5 | Jan 5, 2024 |
KMT2B | 1 | Jul 18, 2018 |
KMT2D | 1 | Feb 28, 2018 |
KPTN | 1 | Feb 28, 2018 |
KRAS | 1 | May 26, 2021 |
KRIT1 | 1 | Dec 21, 2023 |
KY | 1 | May 26, 2021 |
L1CAM | 6 | Dec 21, 2023 |
L2HGDH | 7 | May 23, 2018 |
LAMA1 | 5 | Dec 21, 2023 |
LAMA2 | 89 | Jan 5, 2024 |
LAMA4 | 10 | Dec 21, 2023 |
LAMA5 | 2 | Dec 21, 2023 |
LAMB2 | 6 | Dec 21, 2023 |
LAMC3 | 1 | Feb 28, 2018 |
LAMP2 | 8 | Jul 7, 2022 |
LARGE1 | 5 | Jan 5, 2024 |
LARS2 | 15 | Dec 21, 2023 |
LARS2-AS1 | 5 | May 23, 2018 |
LDB3 | 9 | Dec 21, 2023 |
LDHA | 16 | Jan 5, 2024 |
LDLR | 62 | Jan 5, 2024 |
LDLR-AS1 | 2 | May 26, 2021 |
LDLRAP1 | 2 | Jul 7, 2022 |
LGI1 | 2 | Dec 21, 2023 |
LIAS | 4 | Dec 21, 2023 |
LIG4 | 5 | Dec 21, 2023 |
LIPA | 10 | Dec 21, 2023 |
LIPT2 | 1 | May 26, 2021 |
LITAF | 2 | Dec 21, 2023 |
LIX1L-AS1 | 1 | Dec 21, 2023 |
LMF1 | 1 | Dec 21, 2023 |
LMNA | 25 | Jan 5, 2024 |
LOC100130587 | 2 | May 26, 2021 |
LOC100130987 | 5 | Jul 7, 2022 |
LOC100506071 | 1 | Dec 21, 2023 |
LOC101448202 | 15 | Jan 5, 2024 |
LOC101927055 | 11 | Dec 21, 2023 |
LOC101928008 | 6 | Dec 21, 2023 |
LOC101928965 | 1 | Dec 21, 2023 |
LOC101929305 | 1 | Dec 21, 2023 |
LOC102723324 | 1 | May 26, 2021 |
LOC102723566 | 18 | Jan 5, 2024 |
LOC102723692 | 2 | Dec 21, 2023 |
LOC102724058 | 10 | Dec 21, 2023 |
LOC105369149 | 2 | Dec 21, 2023 |
LOC105370890 | 1 | Dec 21, 2023 |
LOC105371566 | 2 | Dec 21, 2023 |
LOC106050102 | 7 | May 23, 2018 |
LOC106099062 | 12 | Dec 21, 2023 |
LOC106099063 | 1 | May 26, 2021 |
LOC106501712 | 1 | Dec 21, 2023 |
LOC106627981 | 24 | Jan 19, 2024 |
LOC106694316 | 2 | Jul 7, 2022 |
LOC106780803 | 4 | Dec 21, 2023 |
LOC107133510 | 18 | Dec 21, 2023 |
LOC107303340 | 2 | Dec 21, 2023 |
LOC107303343 | 1 | May 26, 2021 |
LOC107988032 | 4 | Dec 21, 2023 |
LOC108281160 | 1 | Feb 28, 2018 |
LOC108491825 | 1 | Dec 21, 2023 |
LOC109115964 | 1 | Dec 21, 2023 |
LOC109610631 | 1 | Dec 21, 2023 |
LOC109951029 | 1 | May 26, 2021 |
LOC110006319 | 6 | May 19, 2023 |
LOC110121269 | 3 | Dec 21, 2023 |
LOC110121288 | 3 | May 26, 2021 |
LOC110121486 | 1 | Sep 15, 2023 |
LOC110596866 | 1 | Jul 7, 2022 |
LOC110806263 | 3 | Jan 5, 2024 |
LOC110806306 | 6 | Jan 5, 2024 |
LOC111674472 | 19 | Jan 5, 2024 |
LOC111674475 | 14 | Jan 5, 2024 |
LOC111674477 | 8 | Jan 5, 2024 |
LOC112486223 | 3 | May 26, 2021 |
LOC112529895 | 1 | May 23, 2018 |
LOC112543470 | 1 | May 26, 2021 |
LOC112694756 | 14 | Jan 5, 2024 |
LOC112997540 | 5 | Jan 5, 2024 |
LOC113633877 | 1 | May 26, 2021 |
LOC113664106 | 2 | Dec 21, 2023 |
LOC113788297 | 3 | Dec 21, 2023 |
LOC113939944 | 4 | Dec 21, 2023 |
LOC114827851 | 1 | Dec 21, 2023 |
LOC117038776 | 1 | Dec 21, 2023 |
LOC117125591 | 4 | Dec 21, 2023 |
LOC117125592 | 2 | Jan 5, 2024 |
LOC119407405 | 1 | Jul 7, 2022 |
LOC119407421 | 1 | Dec 21, 2023 |
LOC121832793 | 1 | Dec 21, 2023 |
LOC122756382 | 1 | Dec 21, 2023 |
LOC123864065 | 4 | Jan 5, 2024 |
LOC124153154 | 2 | Dec 21, 2023 |
LOC125177393 | 1 | Dec 21, 2023 |
LOC126805614 | 1 | Jul 7, 2022 |
LOC126805616 | 3 | Dec 21, 2023 |
LOC126805661 | 2 | Dec 21, 2023 |
LOC126805851 | 1 | Dec 21, 2023 |
LOC126805916 | 1 | Dec 21, 2023 |
LOC126806211 | 1 | May 26, 2021 |
LOC126806373 | 1 | May 26, 2021 |
LOC126806400 | 2 | Dec 21, 2023 |
LOC126806420 | 1 | Jul 7, 2022 |
LOC126806421 | 5 | Sep 15, 2023 |
LOC126806422 | 4 | Dec 21, 2023 |
LOC126806423 | 3 | Dec 21, 2023 |
LOC126806424 | 2 | Dec 21, 2023 |
LOC126806425 | 3 | Dec 21, 2023 |
LOC126806426 | 1 | Dec 21, 2023 |
LOC126806427 | 3 | Jul 7, 2022 |
LOC126806428 | 2 | Jul 7, 2022 |
LOC126806429 | 3 | Dec 21, 2023 |
LOC126806430 | 1 | Jul 7, 2022 |
LOC126806431 | 2 | Dec 21, 2023 |
LOC126806433 | 4 | Dec 21, 2023 |
LOC126806583 | 1 | May 26, 2021 |
LOC126806798 | 1 | Feb 28, 2018 |
LOC126806807 | 1 | May 26, 2021 |
LOC126806913 | 1 | May 23, 2018 |
LOC126806951 | 1 | Dec 21, 2023 |
LOC126807136 | 3 | Dec 21, 2023 |
LOC126807137 | 2 | May 26, 2021 |
LOC126807437 | 1 | Dec 21, 2023 |
LOC126807501 | 2 | Jul 7, 2022 |
LOC126807509 | 1 | May 23, 2018 |
LOC126807526 | 1 | May 26, 2021 |
LOC126859565 | 3 | Dec 21, 2023 |
LOC126859646 | 7 | Jul 7, 2022 |
LOC126859653 | 1 | Jan 5, 2024 |
LOC126859667 | 1 | Dec 21, 2023 |
LOC126859690 | 2 | Jan 5, 2024 |
LOC126859712 | 1 | Sep 15, 2023 |
LOC126859784 | 3 | Dec 21, 2023 |
LOC126859837 | 1 | May 26, 2021 |
LOC126860055 | 1 | May 23, 2018 |
LOC126860131 | 1 | May 26, 2021 |
LOC126860281 | 1 | Dec 21, 2023 |
LOC126860368 | 2 | Dec 21, 2023 |
LOC126860369 | 1 | May 26, 2021 |
LOC126860400 | 1 | Dec 21, 2023 |
LOC126860438 | 1 | Jul 7, 2022 |
LOC126860498 | 1 | Dec 21, 2023 |
LOC126860531 | 1 | Jul 7, 2022 |
LOC126860792 | 1 | Dec 21, 2023 |
LOC126860933 | 1 | Jan 5, 2024 |
LOC126861012 | 3 | Dec 21, 2023 |
LOC126861013 | 2 | Dec 21, 2023 |
LOC126861110 | 1 | Dec 21, 2023 |
LOC126861231 | 1 | Dec 21, 2023 |
LOC126861242 | 1 | May 23, 2018 |
LOC126861245 | 2 | Jul 7, 2022 |
LOC126861360 | 1 | Feb 28, 2018 |
LOC126861480 | 1 | May 23, 2018 |
LOC126861535 | 2 | Dec 21, 2023 |
LOC126861896 | 1 | Dec 21, 2023 |
LOC126861897 | 3 | Dec 21, 2023 |
LOC126861898 | 4 | Dec 21, 2023 |
LOC126862019 | 2 | Dec 21, 2023 |
LOC126862097 | 1 | Jul 7, 2022 |
LOC126862124 | 2 | Dec 21, 2023 |
LOC126862156 | 1 | Dec 21, 2023 |
LOC126862173 | 1 | Dec 21, 2023 |
LOC126862264 | 5 | Jan 5, 2024 |
LOC126862402 | 1 | May 26, 2021 |
LOC126862447 | 4 | May 23, 2018 |
LOC126862500 | 1 | May 26, 2021 |
LOC126862571 | 13 | Jan 5, 2024 |
LOC126862586 | 1 | Dec 21, 2023 |
LOC126862606 | 1 | Jan 5, 2024 |
LOC126862662 | 3 | Dec 21, 2023 |
LOC126862738 | 1 | May 23, 2018 |
LOC126862853 | 1 | Feb 28, 2018 |
LOC126862864 | 1 | May 26, 2021 |
LOC126862902 | 1 | Dec 21, 2023 |
LOC126862983 | 2 | May 23, 2018 |
LOC126862987 | 1 | Dec 21, 2023 |
LOC126863087 | 1 | Jul 7, 2022 |
LOC126863160 | 10 | Jan 5, 2024 |
LOC127898564 | 2 | Dec 21, 2023 |
LOC128462409 | 1 | Dec 21, 2023 |
LOC128669077 | 3 | Dec 21, 2023 |
LOC129389544 | 2 | May 26, 2021 |
LOC129391108 | 1 | May 23, 2018 |
LOC129930245 | 1 | May 23, 2018 |
LOC129930433 | 1 | Dec 21, 2023 |
LOC129930446 | 5 | Jan 5, 2024 |
LOC129930561 | 1 | Dec 21, 2023 |
LOC129930668 | 1 | May 23, 2018 |
LOC129931761 | 1 | May 23, 2018 |
LOC129932405 | 1 | May 26, 2021 |
LOC129932486 | 1 | Dec 21, 2023 |
LOC129932529 | 3 | Dec 21, 2023 |
LOC129932912 | 1 | May 23, 2018 |
LOC129933707 | 3 | Oct 31, 2017 |
LOC129933770 | 1 | May 23, 2018 |
LOC129934004 | 2 | May 23, 2018 |
LOC129934096 | 3 | Jul 7, 2022 |
LOC129934925 | 2 | Jul 18, 2018 |
LOC129935172 | 1 | May 23, 2018 |
LOC129935183 | 1 | Jul 7, 2022 |
LOC129935184 | 2 | Dec 21, 2023 |
LOC129935185 | 1 | May 26, 2021 |
LOC129936031 | 1 | May 23, 2018 |
LOC129936032 | 1 | May 23, 2018 |
LOC129936033 | 1 | May 23, 2018 |
LOC129936056 | 4 | Dec 21, 2023 |
LOC129936244 | 3 | Jul 7, 2022 |
LOC129936434 | 3 | Jul 7, 2022 |
LOC129937121 | 1 | Dec 21, 2023 |
LOC129937586 | 1 | Dec 21, 2023 |
LOC129992886 | 1 | May 23, 2018 |
LOC129992929 | 1 | May 26, 2021 |
LOC129993734 | 1 | Jan 5, 2024 |
LOC129993881 | 1 | Dec 21, 2023 |
LOC129993885 | 2 | May 23, 2018 |
LOC129994126 | 3 | May 23, 2018 |
LOC129994848 | 1 | Feb 28, 2018 |
LOC129994985 | 1 | Dec 21, 2023 |
LOC129995144 | 1 | Feb 28, 2018 |
LOC129995400 | 1 | Dec 21, 2023 |
LOC129995672 | 2 | May 23, 2018 |
LOC129996649 | 2 | Jan 5, 2024 |
LOC129996656 | 1 | May 26, 2021 |
LOC129997381 | 8 | Dec 21, 2023 |
LOC129997861 | 1 | Dec 21, 2023 |
LOC129998297 | 2 | May 23, 2018 |
LOC129998342 | 3 | May 23, 2018 |
LOC129998343 | 2 | May 28, 2021 |
LOC129998533 | 1 | May 23, 2018 |
LOC129998833 | 1 | Jul 7, 2022 |
LOC129999289 | 1 | Dec 21, 2023 |
LOC129999940 | 1 | May 26, 2021 |
LOC130000170 | 3 | Dec 21, 2023 |
LOC130000286 | 1 | May 26, 2021 |
LOC130000316 | 2 | Dec 21, 2023 |
LOC130000622 | 2 | Dec 21, 2023 |
LOC130000896 | 1 | May 23, 2018 |
LOC130001334 | 1 | Dec 21, 2023 |
LOC130001683 | 3 | Dec 21, 2023 |
LOC130001862 | 2 | May 23, 2018 |
LOC130002059 | 4 | Jun 9, 2022 |
LOC130002704 | 1 | Dec 21, 2023 |
LOC130002899 | 2 | May 23, 2018 |
LOC130003093 | 1 | Dec 21, 2023 |
LOC130003343 | 1 | May 26, 2021 |
LOC130003598 | 2 | May 23, 2018 |
LOC130004273 | 3 | Oct 31, 2017 |
LOC130004411 | 1 | Feb 28, 2018 |
LOC130005193 | 1 | Dec 21, 2023 |
LOC130005543 | 1 | May 23, 2018 |
LOC130005549 | 5 | May 23, 2018 |
LOC130005671 | 1 | May 23, 2018 |
LOC130007026 | 1 | May 23, 2018 |
LOC130009266 | 1 | Dec 21, 2023 |
LOC130009366 | 1 | May 23, 2018 |
LOC130009913 | 5 | May 26, 2021 |
LOC130055542 | 1 | Dec 21, 2023 |
LOC130055658 | 1 | Jul 7, 2022 |
LOC130056217 | 2 | Dec 21, 2023 |
LOC130056709 | 1 | May 26, 2021 |
LOC130056851 | 1 | Dec 21, 2023 |
LOC130056931 | 4 | Dec 21, 2023 |
LOC130056971 | 1 | Jul 7, 2022 |
LOC130056991 | 1 | May 26, 2021 |
LOC130058158 | 1 | May 23, 2018 |
LOC130058203 | 2 | May 23, 2018 |
LOC130058352 | 2 | May 23, 2018 |
LOC130058658 | 1 | Dec 21, 2023 |
LOC130058713 | 1 | Jul 7, 2022 |
LOC130059131 | 2 | Dec 21, 2023 |
LOC130059156 | 2 | May 23, 2018 |
LOC130059290 | 1 | Oct 31, 2017 |
LOC130059394 | 1 | Feb 28, 2018 |
LOC130059498 | 1 | Dec 21, 2023 |
LOC130059718 | 1 | Dec 21, 2023 |
LOC130059751 | 1 | Dec 21, 2023 |
LOC130059818 | 1 | Jul 7, 2022 |
LOC130060041 | 1 | Dec 21, 2023 |
LOC130060303 | 2 | Jul 7, 2022 |
LOC130060311 | 1 | May 23, 2018 |
LOC130060888 | 1 | Dec 21, 2023 |
LOC130060959 | 3 | Dec 21, 2023 |
LOC130060994 | 1 | May 23, 2018 |
LOC130062628 | 1 | Feb 28, 2018 |
LOC130062899 | 2 | Dec 21, 2023 |
LOC130063288 | 1 | May 23, 2018 |
LOC130063529 | 1 | May 26, 2021 |
LOC130063673 | 2 | Dec 21, 2023 |
LOC130064021 | 1 | Jul 7, 2022 |
LOC130064281 | 2 | Dec 21, 2023 |
LOC130064376 | 1 | May 23, 2018 |
LOC130064387 | 2 | May 23, 2018 |
LOC130064454 | 1 | Feb 28, 2018 |
LOC130064595 | 1 | May 23, 2018 |
LOC130065345 | 10 | Dec 21, 2023 |
LOC130065679 | 1 | May 26, 2021 |
LOC130065974 | 1 | May 23, 2018 |
LOC130066166 | 1 | Dec 21, 2023 |
LOC130066788 | 1 | Dec 21, 2023 |
LOC130067862 | 8 | May 26, 2021 |
LOC130068281 | 1 | Dec 21, 2023 |
LOC130068494 | 1 | May 23, 2018 |
LOC130068621 | 1 | May 23, 2018 |
LOC132089454 | 1 | May 23, 2018 |
LOC132089829 | 1 | Jul 7, 2022 |
LOC132090059 | 1 | May 23, 2018 |
LOC132090450 | 1 | May 26, 2021 |
LONP1 | 1 | Feb 28, 2018 |
LOX | 1 | Dec 21, 2023 |
LOXHD1 | 5 | Dec 21, 2023 |
LOXL3 | 1 | Dec 21, 2023 |
LPIN1 | 5 | Dec 21, 2023 |
LPIN2 | 8 | Dec 21, 2023 |
LPL | 2 | Dec 21, 2023 |
LRBA | 21 | Dec 21, 2023 |
LRP10 | 1 | Dec 21, 2023 |
LRP2 | 1 | Dec 21, 2023 |
LRP4 | 1 | Dec 21, 2023 |
LRPPRC | 11 | May 23, 2018 |
LRRC37A2 | 2 | Dec 21, 2023 |
LRRC56 | 1 | May 26, 2021 |
LRRC8A | 2 | May 26, 2021 |
LRSAM1 | 16 | Jan 5, 2024 |
LRTOMT | 3 | Dec 21, 2023 |
LTBP3 | 2 | Dec 21, 2023 |
LYRM4 | 2 | May 23, 2018 |
LYRM7 | 1 | May 23, 2018 |
LYST | 32 | Jan 5, 2024 |
LYZ | 1 | May 26, 2021 |
LZTR1 | 4 | Dec 21, 2023 |
MAF | 3 | Dec 21, 2023 |
MAGED2 | 1 | Dec 21, 2023 |
MAGT1 | 1 | Dec 21, 2023 |
MALT1 | 2 | Dec 21, 2023 |
MAN1B1 | 1 | Feb 28, 2018 |
MAN2B1 | 30 | Jan 5, 2024 |
MANBA | 17 | May 23, 2018 |
MAP2K1 | 3 | Dec 21, 2023 |
MAP2K2 | 7 | Dec 21, 2023 |
MAP3K20 | 1 | Dec 21, 2023 |
MAP3K20-AS1 | 1 | Dec 21, 2023 |
MAPKBP1 | 1 | Dec 21, 2023 |
MAPT | 1 | Dec 21, 2023 |
MARK2 | 1 | Feb 28, 2018 |
MARS1 | 9 | Jan 5, 2024 |
MARS2 | 2 | May 23, 2018 |
MARVELD2 | 1 | Dec 21, 2023 |
MASP1 | 2 | Feb 28, 2018 |
MASP2 | 1 | Feb 28, 2018 |
MATR3 | 2 | Jul 7, 2022 |
MBD5 | 9 | Dec 21, 2023 |
MC1R | 5 | Dec 21, 2023 |
MCCC1 | 1 | Dec 21, 2023 |
MCM2 | 1 | Dec 21, 2023 |
MCM3AP | 3 | Dec 21, 2023 |
MCM3AP-AS1 | 2 | Dec 21, 2023 |
MCM7 | 1 | May 26, 2021 |
MCOLN1 | 11 | Jul 7, 2022 |
MCPH1 | 1 | Feb 28, 2018 |
MECP2 | 10 | Dec 21, 2023 |
MECR | 1 | Dec 21, 2023 |
MED23 | 1 | Feb 28, 2018 |
MED25 | 6 | Jul 7, 2022 |
MEFV | 19 | Jan 5, 2024 |
MEGF10 | 6 | Jan 5, 2024 |
MEN1 | 1 | Dec 21, 2023 |
MFAP5 | 2 | May 26, 2021 |
MFF-DT | 9 | Dec 21, 2023 |
MFN2 | 13 | Dec 21, 2023 |
MFSD8 | 8 | Dec 21, 2023 |
MGAT2 | 1 | May 26, 2021 |
MGME1 | 3 | May 23, 2018 |
MHRT | 6 | Dec 21, 2023 |
MICU1 | 1 | May 23, 2018 |
MIF4GD-DT | 3 | May 26, 2021 |
MILR1 | 5 | May 23, 2018 |
MIR3936HG | 1 | Dec 21, 2023 |
MITF | 2 | Dec 21, 2023 |
MKKS | 2 | Dec 21, 2023 |
MKS1 | 3 | Dec 21, 2023 |
MLC1 | 1 | Feb 28, 2018 |
MLH1 | 128 | Jan 5, 2024 |
MLH3 | 30 | Jul 7, 2022 |
MMAB | 1 | Dec 21, 2023 |
MMACHC | 17 | Jan 5, 2024 |
MME | 1 | Dec 21, 2023 |
MMUT | 2 | Dec 21, 2023 |
MOCS1 | 4 | Dec 21, 2023 |
MOCS2 | 2 | Dec 21, 2023 |
MORC2 | 1 | Dec 21, 2023 |
MPC1 | 3 | May 23, 2018 |
MPO | 2 | Jul 7, 2022 |
MPV17 | 6 | Jan 5, 2024 |
MPZ | 12 | Jan 5, 2024 |
MPZL2 | 1 | Dec 21, 2023 |
MRAS | 1 | Dec 21, 2023 |
MRE11 | 1 | Dec 21, 2023 |
MRPL3 | 3 | May 23, 2018 |
MRPL44 | 3 | May 23, 2018 |
MRPS16 | 2 | May 23, 2018 |
MRPS22 | 2 | May 23, 2018 |
MSC-AS1 | 1 | May 26, 2021 |
MSH2 | 113 | Jan 5, 2024 |
MSH3 | 4 | Dec 21, 2023 |
MSH6 | 161 | Jan 5, 2024 |
MSTO1 | 2 | Dec 21, 2023 |
MTFMT | 12 | May 23, 2018 |
MTM1 | 1 | May 23, 2022 |
MTMR2 | 7 | Jan 5, 2024 |
MTO1 | 10 | Dec 21, 2023 |
MTOR | 1 | Dec 21, 2023 |
MTPAP | 4 | May 23, 2018 |
MTRFR | 8 | Jan 5, 2024 |
MTTP | 8 | Jan 5, 2024 |
MUSK | 1 | Jul 7, 2022 |
MUTYH | 16 | Jan 5, 2024 |
MVK | 13 | Jan 5, 2024 |
MVP-DT | 3 | May 19, 2023 |
MYBPC3 | 46 | Jan 5, 2024 |
MYH11 | 14 | Dec 21, 2023 |
MYH14 | 16 | Dec 21, 2023 |
MYH2 | 7 | Jul 7, 2022 |
MYH6 | 10 | Dec 21, 2023 |
MYH7 | 33 | Jan 5, 2024 |
MYH9 | 3 | Dec 21, 2023 |
MYHAS | 7 | Jul 7, 2022 |
MYL2 | 2 | Dec 21, 2023 |
MYL3 | 3 | Dec 21, 2023 |
MYLK | 12 | Dec 21, 2023 |
MYLK-AS1 | 2 | Dec 21, 2023 |
MYLK2 | 2 | Dec 21, 2023 |
MYLK3 | 2 | Dec 21, 2023 |
MYO15A | 8 | Dec 21, 2023 |
MYO18B | 16 | Dec 21, 2023 |
MYO18B-AS1 | 3 | May 26, 2021 |
MYO1E | 1 | Dec 21, 2023 |
MYO3A | 1 | Dec 21, 2023 |
MYO6 | 3 | Dec 21, 2023 |
MYO7A | 5 | Jan 5, 2024 |
MYOT | 5 | Dec 21, 2023 |
MYOZ2 | 3 | Jul 7, 2022 |
MYPN | 15 | Jan 5, 2024 |
NAF1 | 1 | Dec 21, 2023 |
NAGA | 16 | Jan 5, 2024 |
NAGLU | 12 | Dec 21, 2023 |
NARS2 | 1 | Dec 21, 2023 |
NBN | 4 | Dec 21, 2023 |
NCAPH2 | 12 | Jan 5, 2024 |
NCF2 | 2 | May 26, 2021 |
NCF4 | 3 | Dec 21, 2023 |
NCF4-AS1 | 1 | Sep 15, 2023 |
NDE1 | 5 | Dec 21, 2023 |
NDRG1 | 12 | Jan 5, 2024 |
NDST1 | 2 | Feb 28, 2018 |
NDUFA1 | 1 | May 23, 2018 |
NDUFA10 | 7 | May 23, 2018 |
NDUFA12 | 1 | May 23, 2018 |
NDUFA2 | 2 | Dec 21, 2023 |
NDUFA9 | 4 | May 23, 2018 |
NDUFAF1 | 8 | May 23, 2018 |
NDUFAF2 | 2 | May 23, 2018 |
NDUFAF4 | 4 | May 23, 2018 |
NDUFAF5 | 6 | May 23, 2018 |
NDUFAF6 | 9 | Dec 21, 2023 |
NDUFB3 | 1 | May 23, 2018 |
NDUFB9 | 3 | May 23, 2018 |
NDUFS1 | 15 | Dec 21, 2023 |
NDUFS2 | 3 | May 23, 2018 |
NDUFS3 | 1 | May 23, 2018 |
NDUFS4 | 4 | May 23, 2018 |
NDUFS6 | 1 | May 23, 2018 |
NDUFS7 | 5 | May 23, 2018 |
NDUFS8 | 2 | Dec 21, 2023 |
NDUFV1 | 6 | Dec 21, 2023 |
NDUFV2 | 2 | May 23, 2018 |
NEB | 49 | Jan 5, 2024 |
NECAP1 | 1 | May 26, 2021 |
NEFH | 6 | Dec 21, 2023 |
NEFL | 4 | Dec 21, 2023 |
NEK1 | 1 | Dec 21, 2023 |
NEU1 | 7 | Jan 5, 2024 |
NEXMIF | 1 | Dec 21, 2023 |
NEXN | 5 | Jul 7, 2022 |
NF1 | 31 | Dec 21, 2023 |
NF2 | 2 | May 26, 2021 |
NFU1 | 4 | May 23, 2018 |
NGF | 2 | Jan 5, 2024 |
NGF-AS1 | 2 | Jan 5, 2024 |
NGLY1 | 2 | Dec 21, 2023 |
NHEJ1 | 1 | Jul 7, 2022 |
NHLRC1 | 8 | Dec 21, 2023 |
NHP2 | 2 | Jan 5, 2024 |
NIPA1 | 2 | May 23, 2022 |
NIPSNAP3B | 3 | Jan 5, 2024 |
NKX2-5 | 1 | Feb 28, 2018 |
NLRC4 | 3 | May 26, 2021 |
NLRP12 | 10 | Jan 5, 2024 |
NLRP3 | 7 | Jan 5, 2024 |
NOD2 | 16 | Jan 5, 2024 |
NOTCH1 | 22 | Jan 5, 2024 |
NOTCH2 | 6 | Dec 21, 2023 |
NOTCH3 | 40 | Dec 21, 2023 |
NPC1 | 48 | Dec 21, 2023 |
NPC2 | 3 | Jan 5, 2024 |
NPHP1 | 4 | Dec 21, 2023 |
NPHP3 | 7 | Dec 21, 2023 |
NPHP3-ACAD11 | 7 | Dec 21, 2023 |
NPHP3-AS1 | 1 | Dec 21, 2023 |
NPHP4 | 16 | Jan 5, 2024 |
NPHS1 | 2 | Dec 21, 2023 |
NPRL2 | 1 | Dec 21, 2023 |
NPRL3 | 4 | Dec 21, 2023 |
NR1H3 | 1 | May 23, 2018 |
NR1H4 | 5 | Dec 21, 2023 |
NR2F1 | 2 | Feb 28, 2018 |
NR2F1-AS1 | 1 | Feb 28, 2018 |
NR2F2 | 1 | Feb 28, 2018 |
NRL | 16 | May 23, 2018 |
NRROS | 2 | Dec 21, 2023 |
NRXN1 | 8 | Sep 15, 2023 |
NSD2 | 1 | Feb 28, 2018 |
NSUN6 | 2 | May 26, 2021 |
NT5C3A | 9 | Jan 5, 2024 |
NTHL1 | 2 | Dec 21, 2023 |
NTRK1 | 12 | Dec 21, 2023 |
NUBPL | 7 | Dec 21, 2023 |
NUP160 | 1 | Dec 21, 2023 |
NUP85 | 1 | Dec 21, 2023 |
OAT | 2 | Dec 21, 2023 |
OCLN | 3 | Jul 7, 2022 |
OFD1 | 3 | Dec 21, 2023 |
OGDH | 10 | May 23, 2018 |
OPA1 | 25 | Jan 5, 2024 |
OPA1-AS1 | 1 | May 23, 2018 |
OPA3 | 1 | May 23, 2018 |
OPTN | 3 | Dec 21, 2023 |
OR10Z1 | 4 | Dec 21, 2023 |
ORC1 | 1 | Feb 28, 2018 |
OTC | 1 | Dec 21, 2023 |
OTOA | 2 | Dec 21, 2023 |
OTOF | 3 | Dec 21, 2023 |
OTOG | 8 | Dec 21, 2023 |
OTOGL | 1 | Dec 21, 2023 |
OXCT1 | 5 | May 23, 2018 |
OXCT1-AS1 | 1 | May 23, 2018 |
OXTR | 2 | Jul 7, 2022 |
P3H2 | 1 | Feb 28, 2018 |
P4HTM | 1 | Dec 21, 2023 |
PACS2 | 1 | Dec 21, 2023 |
PAFAH1B1 | 2 | Dec 21, 2023 |
PAH | 7 | Dec 21, 2023 |
PAK3 | 2 | Dec 21, 2023 |
PALB2 | 6 | Dec 21, 2023 |
PANK2 | 19 | Dec 21, 2023 |
PAX7 | 1 | Dec 21, 2023 |
PC | 7 | May 23, 2018 |
PCCA | 1 | Dec 21, 2023 |
PCCB | 1 | Dec 21, 2023 |
PCDH12 | 1 | Dec 21, 2023 |
PCDH15 | 8 | Dec 21, 2023 |
PCK2 | 16 | May 23, 2018 |
PCSK9 | 6 | Jan 5, 2024 |
PDE6D | 1 | Dec 21, 2023 |
PDGFRA | 1 | Dec 21, 2023 |
PDHA1 | 2 | May 23, 2018 |
PDHB | 5 | May 23, 2018 |
PDHX | 18 | Dec 21, 2023 |
PDK3 | 1 | May 26, 2021 |
PDP1 | 1 | May 23, 2018 |
PDSS1 | 6 | Jul 7, 2022 |
PDSS2 | 9 | Dec 21, 2023 |
PDYN | 3 | Dec 21, 2023 |
PDYN-AS1 | 3 | Dec 21, 2023 |
PDZD7 | 1 | Dec 21, 2023 |
PDZD9 | 6 | May 23, 2018 |
PEPD | 7 | Dec 21, 2023 |
PEX1 | 29 | Dec 21, 2023 |
PEX10 | 14 | Jan 5, 2024 |
PEX11B | 1 | May 23, 2018 |
PEX12 | 3 | May 26, 2021 |
PEX13 | 5 | Dec 21, 2023 |
PEX14 | 10 | Dec 21, 2023 |
PEX16 | 7 | Dec 21, 2023 |
PEX19 | 2 | May 23, 2018 |
PEX2 | 4 | Dec 21, 2023 |
PEX26 | 7 | Jan 5, 2024 |
PEX3 | 6 | Dec 21, 2023 |
PEX5 | 10 | Dec 21, 2023 |
PEX6 | 22 | Dec 21, 2023 |
PEX7 | 12 | Dec 21, 2023 |
PFKM | 25 | Jan 5, 2024 |
PGAM2 | 7 | Jul 7, 2022 |
PGAP3 | 1 | Feb 28, 2018 |
PGBD3 | 2 | Jan 5, 2024 |
PGK1 | 9 | Dec 21, 2023 |
PGM1 | 20 | Dec 21, 2023 |
PHGDH | 5 | Dec 21, 2023 |
PHKA1 | 10 | Dec 21, 2023 |
PHKA1-AS1 | 1 | May 23, 2018 |
PHKA2 | 12 | Dec 21, 2023 |
PHKB | 26 | Jan 5, 2024 |
PHKG2 | 2 | Jul 7, 2022 |
PHLPP1 | 2 | Feb 28, 2018 |
PHYH | 15 | Jan 5, 2024 |
PIEZO1 | 137 | Jan 5, 2024 |
PIEZO2 | 3 | Feb 28, 2018 |
PIGA | 3 | Dec 21, 2023 |
PIGG | 2 | Dec 21, 2023 |
PIGM | 1 | Dec 21, 2023 |
PIGN | 2 | Dec 21, 2023 |
PIGO | 3 | Dec 21, 2023 |
PIGQ | 1 | Dec 21, 2023 |
PIGS | 2 | Dec 21, 2023 |
PIGT | 3 | Dec 21, 2023 |
PIGU | 1 | Dec 21, 2023 |
PIGV | 5 | Dec 21, 2023 |
PIH1D2 | 2 | May 23, 2018 |
PIK3CD | 4 | May 26, 2021 |
PIK3R1 | 3 | May 26, 2021 |
PINK1 | 3 | Dec 21, 2023 |
PINK1-AS | 3 | Dec 21, 2023 |
PITPNM3 | 1 | Feb 28, 2018 |
PJVK | 2 | Dec 21, 2023 |
PKD1 | 18 | Dec 21, 2023 |
PKD2 | 2 | Dec 21, 2023 |
PKD2L2-DT | 5 | Dec 21, 2023 |
PKHD1 | 43 | Jan 5, 2024 |
PKLR | 36 | Jan 5, 2024 |
PKP2 | 9 | Dec 21, 2023 |
PLA2G6 | 17 | Jan 5, 2024 |
PLCB1 | 4 | Dec 21, 2023 |
PLCE1 | 2 | Dec 21, 2023 |
PLCG2 | 17 | Dec 21, 2023 |
PLCH2 | 1 | May 23, 2018 |
PLD3 | 1 | Dec 21, 2023 |
PLEC | 39 | Dec 21, 2023 |
PLEKHG3 | 3 | Dec 21, 2023 |
PLEKHG5 | 27 | Jan 5, 2024 |
PLG | 29 | Jan 5, 2024 |
PLN | 2 | Dec 21, 2023 |
PLOD1 | 21 | Jan 5, 2024 |
PLP1 | 3 | Jul 7, 2022 |
PMM2 | 7 | Dec 21, 2023 |
PMP2 | 1 | Dec 21, 2023 |
PMP22 | 6 | Jan 5, 2024 |
PMPCA | 2 | Dec 21, 2023 |
PMS2 | 49 | Jan 5, 2024 |
PNKD | 4 | May 23, 2018 |
PNKP | 17 | Jan 5, 2024 |
PNP | 1 | Dec 21, 2023 |
PNPLA2 | 5 | Dec 21, 2023 |
PNPLA6 | 16 | Dec 21, 2023 |
PNPLA8 | 2 | Dec 21, 2023 |
PNPO | 2 | Jul 7, 2022 |
PNPT1 | 8 | Dec 21, 2023 |
POLD1 | 2 | Dec 21, 2023 |
POLE | 10 | Dec 21, 2023 |
POLG | 89 | Jan 5, 2024 |
POLG2 | 5 | May 23, 2018 |
POLGARF | 89 | Jan 5, 2024 |
POLR1C | 9 | May 23, 2018 |
POLR2F | 4 | Dec 21, 2023 |
POLR3A | 1 | Dec 21, 2023 |
POLR3H | 2 | Jul 18, 2018 |
POMGNT1 | 10 | Dec 21, 2023 |
POMGNT2 | 5 | Dec 21, 2023 |
POMK | 2 | Dec 21, 2023 |
POMT1 | 10 | Dec 21, 2023 |
POMT2 | 5 | Dec 21, 2023 |
PPA2 | 1 | Dec 21, 2023 |
PPOX | 6 | Jan 5, 2024 |
PPT1 | 13 | Dec 21, 2023 |
PRADX | 1 | May 23, 2018 |
PRDM5 | 2 | Dec 21, 2023 |
PREPL | 1 | Dec 21, 2023 |
PRF1 | 2 | Dec 21, 2023 |
PRICKLE1 | 5 | Jul 7, 2022 |
PRKAG2 | 15 | Dec 21, 2023 |
PRKCG | 1 | Dec 21, 2023 |
PRKCSH | 1 | Dec 21, 2023 |
PRKG1 | 3 | Dec 21, 2023 |
PRKN | 3 | Dec 21, 2023 |
PRNP | 2 | Dec 21, 2023 |
PROC | 18 | Jan 5, 2024 |
PRODH | 2 | Feb 28, 2018 |
PROS1 | 19 | Jan 5, 2024 |
PRRT2 | 3 | May 19, 2023 |
PRUNE1 | 1 | Dec 21, 2023 |
PRUNE2 | 2 | Feb 28, 2018 |
PRX | 29 | Jan 5, 2024 |
PSAP | 12 | Dec 21, 2023 |
PSEN1 | 1 | Dec 21, 2023 |
PSEN2 | 2 | Dec 21, 2023 |
PSMB8 | 3 | Jan 5, 2024 |
PSTPIP1 | 3 | Dec 21, 2023 |
PTCH1 | 1 | Feb 28, 2018 |
PTEN | 46 | Jan 5, 2024 |
PTPN11 | 24 | Jan 5, 2024 |
PTPRC | 1 | Dec 21, 2023 |
PTPRO | 1 | Dec 21, 2023 |
PTRH2 | 1 | Dec 21, 2023 |
PTRHD1 | 1 | Dec 21, 2023 |
PTX3 | 1 | Feb 28, 2018 |
PUS1 | 4 | Dec 21, 2023 |
PYGL | 24 | Jan 5, 2024 |
PYGM | 32 | Jan 5, 2024 |
PYROXD1 | 1 | Dec 21, 2023 |
QARS1 | 10 | Jan 5, 2024 |
RAB18 | 1 | Dec 21, 2023 |
RAB33A | 11 | Dec 21, 2023 |
RAB3GAP1 | 1 | May 26, 2021 |
RAB9B | 3 | Jul 7, 2022 |
RAD51B | 1 | Dec 21, 2023 |
RAD51C | 1 | Jul 7, 2022 |
RAD51D | 2 | Dec 21, 2023 |
RAD51L3-RFFL | 2 | Dec 21, 2023 |
RAF1 | 8 | Jan 5, 2024 |
RAG1 | 5 | Dec 21, 2023 |
RAG2 | 3 | Dec 21, 2023 |
RANBP2 | 1 | Dec 21, 2023 |
RAPSN | 2 | May 26, 2021 |
RARS2 | 10 | Dec 21, 2023 |
RASA1 | 3 | Dec 21, 2023 |
RBCK1 | 5 | Dec 21, 2023 |
RBM20 | 14 | Jan 5, 2024 |
RBM8A | 1 | Dec 21, 2023 |
REEP1 | 2 | May 26, 2021 |
RELN | 16 | Jan 5, 2024 |
RET | 32 | Jan 5, 2024 |
RETREG1 | 5 | Jan 5, 2024 |
RETREG1-AS1 | 1 | Jan 5, 2024 |
RFT1 | 1 | Feb 28, 2018 |
RFXANK | 1 | Dec 21, 2023 |
RHAG | 9 | Dec 21, 2023 |
RIC3 | 1 | Dec 21, 2023 |
RIF1 | 6 | Jan 5, 2024 |
RINT1 | 2 | Feb 28, 2018 |
RIT1 | 1 | Dec 21, 2023 |
RMND1 | 5 | Dec 21, 2023 |
RMRP | 2 | May 26, 2021 |
RNASE4 | 1 | Jan 5, 2024 |
RNF14 | 1 | Dec 21, 2023 |
RNF216 | 1 | Dec 21, 2023 |
ROGDI | 4 | Jul 7, 2022 |
ROR2 | 1 | Feb 28, 2018 |
RPGRIP1L | 2 | Dec 21, 2023 |
RPL36A-HNRNPH2 | 13 | Jan 5, 2024 |
RPS19 | 6 | Dec 21, 2023 |
RPS6KA3 | 1 | Feb 28, 2018 |
RRM2B | 6 | Dec 21, 2023 |
RS1 | 1 | Jul 7, 2022 |
RSPH1 | 1 | Dec 21, 2023 |
RTEL1 | 35 | Jan 5, 2024 |
RTEL1-TNFRSF6B | 35 | Jan 5, 2024 |
RTN2 | 6 | Jan 5, 2024 |
RUBCN | 1 | Dec 21, 2023 |
RXYLT1 | 1 | Dec 21, 2023 |
RYR1 | 43 | Dec 21, 2023 |
RYR2 | 28 | Dec 21, 2023 |
RYR3 | 3 | Feb 28, 2018 |
SACS | 74 | Jan 5, 2024 |
SARS2 | 12 | May 23, 2018 |
SBDS | 5 | Jan 5, 2024 |
SBF1 | 42 | Jan 5, 2024 |
SBF2 | 20 | Dec 21, 2023 |
SBF2-AS1 | 2 | Dec 21, 2023 |
SCARB2 | 7 | Dec 21, 2023 |
SCN10A | 24 | Jan 5, 2024 |
SCN11A | 13 | Jan 5, 2024 |
SCN1A | 19 | Jan 5, 2024 |
SCN1A-AS1 | 27 | Jan 5, 2024 |
SCN1B | 2 | Dec 21, 2023 |
SCN2A | 12 | Dec 21, 2023 |
SCN3A | 2 | Feb 28, 2018 |
SCN4A | 13 | Dec 21, 2023 |
SCN4B | 1 | May 26, 2021 |
SCN5A | 37 | Jan 5, 2024 |
SCN8A | 8 | Dec 21, 2023 |
SCN9A | 33 | Jan 5, 2024 |
SCNN1A | 1 | Dec 21, 2023 |
SCNN1B | 1 | Dec 21, 2023 |
SCNN1G | 2 | Dec 21, 2023 |
SCO1 | 1 | May 23, 2018 |
SCO2 | 22 | Jan 5, 2024 |
SCP2 | 11 | Sep 15, 2023 |
SCYL1 | 1 | Dec 21, 2023 |
SDHA | 7 | Dec 21, 2023 |
SDHAF1 | 2 | Dec 21, 2023 |
SDHAF2 | 1 | Dec 21, 2023 |
SDHB | 5 | Dec 21, 2023 |
SDHD | 2 | Dec 21, 2023 |
SEC23A | 1 | Dec 21, 2023 |
SEC23B | 18 | Jan 5, 2024 |
SEC24D | 1 | Dec 21, 2023 |
SELENON | 9 | Jan 5, 2024 |
SEMA3E | 1 | Jul 7, 2022 |
SEPTIN9 | 2 | Jan 5, 2024 |
SERAC1 | 4 | May 23, 2018 |
SERPINA1 | 6 | Dec 21, 2023 |
SERPINB6 | 1 | Dec 21, 2023 |
SERPINC1 | 11 | Jan 5, 2024 |
SETBP1 | 4 | Dec 21, 2023 |
SETX | 34 | Jan 5, 2024 |
SFXN4 | 4 | May 23, 2018 |
SGCA | 4 | Dec 21, 2023 |
SGCB | 4 | Jan 5, 2024 |
SGCD | 2 | Dec 21, 2023 |
SGCG | 2 | Dec 21, 2023 |
SGSH | 26 | Jan 5, 2024 |
SH3BP2 | 10 | Dec 21, 2023 |
SH3PXD2B | 2 | Feb 28, 2018 |
SH3TC2 | 31 | Jan 5, 2024 |
SHOC2 | 2 | Dec 21, 2023 |
SIGMAR1 | 1 | Dec 21, 2023 |
SIK1 | 1 | May 26, 2021 |
SIL1 | 1 | Dec 21, 2023 |
SKI | 2 | Dec 21, 2023 |
SKIC2 | 6 | Jan 5, 2024 |
SKIC3 | 5 | Jan 5, 2024 |
SLC10A1 | 5 | Dec 21, 2023 |
SLC10A2 | 4 | Dec 21, 2023 |
SLC12A3 | 1 | Dec 21, 2023 |
SLC12A5 | 2 | Dec 21, 2023 |
SLC12A6 | 11 | Jan 5, 2024 |
SLC13A5 | 1 | Dec 21, 2023 |
SLC16A2 | 1 | May 26, 2021 |
SLC17A5 | 11 | Jan 5, 2024 |
SLC17A8 | 1 | Dec 21, 2023 |
SLC19A3 | 11 | Dec 21, 2023 |
SLC22A12 | 1 | Dec 21, 2023 |
SLC22A4 | 1 | Dec 21, 2023 |
SLC22A5 | 10 | Jan 5, 2024 |
SLC25A1 | 4 | Dec 21, 2023 |
SLC25A12 | 12 | Dec 21, 2023 |
SLC25A13 | 3 | Dec 21, 2023 |
SLC25A15 | 2 | Jul 7, 2022 |
SLC25A19 | 8 | May 26, 2021 |
SLC25A20 | 1 | May 26, 2021 |
SLC25A22 | 3 | Dec 21, 2023 |
SLC25A3 | 2 | May 23, 2018 |
SLC25A4 | 3 | Dec 21, 2023 |
SLC25A42 | 1 | Dec 21, 2023 |
SLC25A46 | 8 | Jan 5, 2024 |
SLC26A1 | 8 | Dec 21, 2023 |
SLC26A2 | 1 | Feb 28, 2018 |
SLC26A4 | 4 | Dec 21, 2023 |
SLC26A4-AS1 | 1 | Dec 21, 2023 |
SLC26A5 | 2 | Dec 21, 2023 |
SLC26A5-AS1 | 4 | Jan 5, 2024 |
SLC27A5 | 11 | Dec 21, 2023 |
SLC2A1 | 17 | Dec 21, 2023 |
SLC2A10 | 3 | Dec 21, 2023 |
SLC2A2 | 7 | Dec 21, 2023 |
SLC2A9 | 1 | Dec 21, 2023 |
SLC33A1 | 3 | Dec 21, 2023 |
SLC34A1 | 5 | Dec 21, 2023 |
SLC34A3 | 2 | Dec 21, 2023 |
SLC35A1 | 1 | May 23, 2018 |
SLC35A2 | 2 | May 26, 2021 |
SLC35A3 | 1 | Dec 21, 2023 |
SLC35D1 | 1 | May 26, 2021 |
SLC39A13 | 7 | Dec 21, 2023 |
SLC45A2 | 1 | May 23, 2018 |
SLC4A1 | 59 | Jan 26, 2024 |
SLC4A4 | 3 | Dec 21, 2023 |
SLC52A1 | 1 | Jul 7, 2022 |
SLC52A2 | 7 | May 26, 2021 |
SLC52A3 | 1 | Dec 21, 2023 |
SLC5A2 | 1 | Dec 21, 2023 |
SLC5A7 | 8 | Jan 5, 2024 |
SLC6A13 | 1 | Feb 28, 2018 |
SLC6A3 | 1 | Feb 28, 2018 |
SLC6A8 | 1 | May 26, 2021 |
SLC7A7 | 4 | Dec 21, 2023 |
SLC7A9 | 3 | Dec 21, 2023 |
SLC9A1 | 1 | Dec 21, 2023 |
SLC9A3 | 1 | Feb 28, 2018 |
SLC9A3-AS1 | 1 | Feb 28, 2018 |
SLC9A6 | 1 | Dec 21, 2023 |
SMAD3 | 4 | Dec 21, 2023 |
SMAD4 | 22 | Dec 21, 2023 |
SMAD6 | 2 | Dec 21, 2023 |
SMARCA2 | 1 | Dec 21, 2023 |
SMARCA4 | 1 | Dec 21, 2023 |
SMARCAL1 | 1 | Dec 21, 2023 |
SMC1A | 1 | Feb 28, 2018 |
SMCHD1 | 3 | Dec 21, 2023 |
SMPD1 | 32 | Jan 5, 2024 |
SNAP29 | 7 | Jul 7, 2022 |
SNAPC5 | 1 | May 26, 2021 |
SNHG14 | 1 | May 26, 2021 |
SNTA1 | 2 | Jul 7, 2022 |
SOD1 | 8 | Dec 21, 2023 |
SOD1-DT | 1 | May 26, 2021 |
SON | 1 | Feb 28, 2018 |
SORD | 2 | Dec 21, 2023 |
SOS1 | 9 | Dec 21, 2023 |
SOS2 | 1 | Dec 21, 2023 |
SOX10 | 4 | Dec 21, 2023 |
SPART | 5 | Sep 15, 2023 |
SPAST | 18 | Dec 21, 2023 |
SPEG | 16 | Dec 21, 2023 |
SPG11 | 48 | Jan 5, 2024 |
SPG21 | 3 | Dec 21, 2023 |
SPG7 | 14 | Jan 5, 2024 |
SPINK1 | 8 | Jan 5, 2024 |
SPINK5 | 1 | Dec 21, 2023 |
SPMIP11 | 1 | Dec 21, 2023 |
SPR | 1 | Jan 5, 2024 |
SPTA1 | 138 | Jan 5, 2024 |
SPTAN1 | 6 | Dec 21, 2023 |
SPTB | 110 | Jan 5, 2024 |
SPTBN2 | 2 | Dec 21, 2023 |
SPTLC1 | 3 | May 26, 2021 |
SPTLC2 | 4 | May 26, 2021 |
SQSTM1 | 5 | Jan 5, 2024 |
SRCAP | 1 | Jul 18, 2018 |
SRFBP1 | 1 | Dec 21, 2023 |
SSUH2 | 3 | May 26, 2021 |
ST3GAL5 | 2 | May 26, 2021 |
ST6GALNAC4-ST6GALNAC6-AK1 | 2 | Dec 21, 2023 |
STAC3 | 2 | Jul 7, 2022 |
STAT1 | 4 | Dec 21, 2023 |
STAT3 | 2 | Dec 21, 2023 |
STAT5B | 1 | Dec 21, 2023 |
STIM1 | 3 | Dec 21, 2023 |
STK11 | 21 | Dec 21, 2023 |
STOM | 4 | Dec 21, 2023 |
STRADA | 1 | Dec 21, 2023 |
STRC | 11 | Dec 21, 2023 |
STX1B | 1 | Jul 7, 2022 |
STXBP1 | 3 | Dec 21, 2023 |
STXBP2 | 8 | Dec 21, 2023 |
SUCLA2 | 8 | Dec 21, 2023 |
SUCLG1 | 5 | May 23, 2018 |
SUGCT | 13 | May 23, 2018 |
SUMF1 | 16 | Dec 21, 2023 |
SURF1 | 16 | Dec 21, 2023 |
SYN1 | 1 | Dec 21, 2023 |
SYNE1 | 41 | Jan 5, 2024 |
SYNE4 | 1 | Dec 21, 2023 |
SYNGAP1 | 1 | Feb 28, 2018 |
SYNGAP1-AS1 | 1 | Feb 28, 2018 |
SYNJ1 | 2 | Dec 21, 2023 |
SYP | 2 | Dec 21, 2023 |
SYP-AS1 | 1 | Dec 21, 2023 |
SZT2 | 18 | Dec 21, 2023 |
TACO1 | 2 | May 23, 2018 |
TAF15 | 1 | Dec 21, 2023 |
TAFAZZIN | 5 | Jan 5, 2024 |
TALDO1 | 5 | Dec 21, 2023 |
TANGO2 | 1 | Dec 21, 2023 |
TAPT1 | 1 | Dec 21, 2023 |
TARS2 | 9 | May 23, 2018 |
TBC1D24 | 7 | Dec 21, 2023 |
TBCD | 2 | Dec 21, 2023 |
TBCEL-TECTA | 3 | Dec 21, 2023 |
TBX1 | 2 | Dec 21, 2023 |
TBX18 | 1 | Dec 21, 2023 |
TBX4 | 1 | Feb 28, 2018 |
TCAP | 5 | Dec 21, 2023 |
TCF4 | 2 | May 26, 2021 |
TCOF1 | 3 | Dec 21, 2023 |
TDP1 | 4 | Dec 21, 2023 |
TECPR2 | 11 | Dec 21, 2023 |
TECTA | 3 | Dec 21, 2023 |
TENM4 | 5 | Dec 21, 2023 |
TERC | 7 | Jan 5, 2024 |
TERT | 27 | Jan 5, 2024 |
TFG | 4 | Jul 7, 2022 |
TGFB2 | 3 | Dec 21, 2023 |
TGFB3 | 3 | Dec 21, 2023 |
TGFBR1 | 3 | Dec 21, 2023 |
TGFBR2 | 3 | Dec 21, 2023 |
TH | 2 | Dec 21, 2023 |
THAP1 | 1 | Feb 28, 2018 |
THAP11 | 1 | Jul 7, 2022 |
THBD | 21 | Jan 5, 2024 |
THG1L | 3 | Dec 21, 2023 |
TIA1 | 4 | Jan 5, 2024 |
TIMM44 | 14 | May 23, 2018 |
TIMM8A | 2 | May 23, 2018 |
TINF2 | 3 | Dec 21, 2023 |
TJP2 | 9 | Jan 5, 2024 |
TK2 | 3 | May 23, 2018 |
TMC1 | 4 | Dec 21, 2023 |
TMCO6 | 2 | Dec 21, 2023 |
TMEM126A | 5 | May 23, 2018 |
TMEM216 | 1 | Jan 5, 2024 |
TMEM43 | 5 | Dec 21, 2023 |
TMEM67 | 4 | Dec 21, 2023 |
TMEM70 | 8 | Dec 21, 2023 |
TMPPE | 3 | Jul 7, 2022 |
TMPRSS3 | 4 | Dec 21, 2023 |
TMPRSS6 | 2 | Dec 21, 2023 |
TNC | 2 | Dec 21, 2023 |
TNFRSF11A | 1 | Feb 28, 2018 |
TNFRSF13B | 4 | May 19, 2023 |
TNFRSF1A | 7 | Dec 21, 2023 |
TNNC1 | 3 | Dec 21, 2023 |
TNNI3 | 5 | Dec 21, 2023 |
TNNI3K | 1 | Dec 21, 2023 |
TNNT1 | 1 | Dec 21, 2023 |
TNNT2 | 10 | Dec 21, 2023 |
TNPO3 | 3 | Dec 21, 2023 |
TNXB | 20 | Dec 21, 2023 |
TOE1 | 1 | Oct 31, 2017 |
TOMT | 3 | Dec 21, 2023 |
TP53 | 50 | Jan 5, 2024 |
TPI1 | 3 | Jan 5, 2024 |
TPK1 | 1 | May 23, 2018 |
TPM1 | 3 | May 26, 2021 |
TPM2 | 2 | May 26, 2021 |
TPM3 | 1 | May 23, 2022 |
TPP1 | 28 | Jan 5, 2024 |
TPRN | 2 | Dec 21, 2023 |
TRAF3IP1 | 1 | Dec 21, 2023 |
TRAP1 | 18 | May 23, 2018 |
TRAPPC11 | 1 | Dec 21, 2023 |
TRAPPC9 | 2 | Feb 28, 2018 |
TRDN | 5 | Dec 21, 2023 |
TRIM2 | 5 | Sep 15, 2023 |
TRIM32 | 8 | Dec 21, 2023 |
TRIM37 | 10 | Jan 5, 2024 |
TRIM63 | 1 | Dec 21, 2023 |
TRIOBP | 9 | Dec 21, 2023 |
TRIP11 | 1 | Oct 17, 2022 |
TRIP4 | 3 | Dec 21, 2023 |
TRMU | 10 | Jul 7, 2022 |
TRPA1 | 1 | May 26, 2021 |
TRPM6 | 2 | Dec 21, 2023 |
TRPV4 | 15 | Dec 21, 2023 |
TSC1 | 14 | Dec 21, 2023 |
TSC2 | 31 | Jan 5, 2024 |
TSFM | 5 | Dec 21, 2023 |
TSPAN1 | 8 | Dec 21, 2023 |
TTC19 | 5 | Dec 21, 2023 |
TTC21B | 2 | Dec 21, 2023 |
TTC7A | 9 | Dec 21, 2023 |
TTN | 480 | Jan 5, 2024 |
TTN-AS1 | 298 | Jan 5, 2024 |
TTPA | 2 | Dec 21, 2023 |
TTR | 9 | Dec 21, 2023 |
TUBA1A | 1 | Jul 18, 2018 |
TUBA8 | 4 | Dec 21, 2023 |
TUBB3 | 2 | Jul 7, 2022 |
TUBB6 | 2 | Sep 15, 2023 |
TUFM | 1 | May 23, 2018 |
TUSC3 | 1 | Feb 28, 2018 |
TWNK | 19 | Dec 21, 2023 |
TYMP | 28 | Jan 5, 2024 |
UBE3A | 1 | May 26, 2021 |
UBQLN2 | 2 | Dec 21, 2023 |
UGT1A | 20 | Jan 5, 2024 |
UGT1A1 | 20 | Jan 5, 2024 |
UGT1A10 | 20 | Jan 5, 2024 |
UGT1A3 | 20 | Jan 5, 2024 |
UGT1A4 | 20 | Jan 5, 2024 |
UGT1A5 | 20 | Jan 5, 2024 |
UGT1A6 | 20 | Jan 5, 2024 |
UGT1A7 | 20 | Jan 5, 2024 |
UGT1A8 | 20 | Jan 5, 2024 |
UGT1A9 | 20 | Jan 5, 2024 |
UMOD | 2 | Dec 21, 2023 |
UNC13D | 1 | Dec 21, 2023 |
UNG | 1 | Jul 7, 2022 |
UPF3B | 1 | Feb 28, 2018 |
UQCRB | 1 | May 23, 2018 |
UQCRC2 | 6 | May 23, 2018 |
UQCRQ | 1 | May 23, 2018 |
UROD | 11 | Jan 5, 2024 |
UROS | 2 | Dec 21, 2023 |
USB1 | 12 | Jan 5, 2024 |
USH1C | 1 | Dec 21, 2023 |
USH1G | 2 | Dec 21, 2023 |
USH2A | 8 | Dec 21, 2023 |
USH2A-AS1 | 2 | Dec 21, 2023 |
USP7 | 1 | Dec 21, 2023 |
USP7-AS1 | 1 | Dec 21, 2023 |
USP9X | 3 | Jul 18, 2018 |
VARS2 | 35 | Dec 21, 2023 |
VAV1 | 1 | Feb 28, 2018 |
VCL | 8 | Dec 21, 2023 |
VCP | 2 | Dec 21, 2023 |
VDR | 2 | Dec 21, 2023 |
VEPH1 | 1 | Feb 28, 2018 |
VHL | 4 | Dec 21, 2023 |
VIPAS39 | 1 | Dec 21, 2023 |
VLDLR | 4 | Dec 21, 2023 |
VPS13A | 3 | Dec 21, 2023 |
VPS13B | 23 | Dec 21, 2023 |
VPS13C | 8 | Dec 21, 2023 |
VPS13D | 11 | Dec 21, 2023 |
VPS33A | 1 | Jul 7, 2022 |
VPS33B | 5 | Dec 21, 2023 |
VPS37A | 4 | Dec 21, 2023 |
VPS45 | 5 | Dec 21, 2023 |
VWA1 | 1 | Dec 21, 2023 |
VWF | 30 | Jan 5, 2024 |
WARS1 | 1 | Dec 21, 2023 |
WAS | 4 | Dec 21, 2023 |
WASHC5 | 11 | Jan 5, 2024 |
WDR26 | 1 | Dec 21, 2023 |
WDR35 | 1 | Dec 21, 2023 |
WDR62 | 18 | Jan 5, 2024 |
WDR81 | 2 | Dec 21, 2023 |
WFS1 | 5 | Dec 21, 2023 |
WHRN | 2 | Dec 21, 2023 |
WIPF1 | 6 | Dec 21, 2023 |
WNK1 | 24 | Jan 5, 2024 |
WRAP53 | 2 | Jan 5, 2024 |
WRN | 4 | Dec 21, 2023 |
WWOX | 9 | Dec 21, 2023 |
XDH | 3 | Dec 21, 2023 |
XIAP | 2 | Dec 21, 2023 |
XPA | 5 | Dec 21, 2023 |
XPC | 10 | Dec 21, 2023 |
XPNPEP3 | 2 | May 23, 2018 |
XYLT1 | 4 | Dec 21, 2023 |
YARS1 | 4 | Jan 5, 2024 |
YARS2 | 8 | May 23, 2018 |
ZAP70 | 6 | Dec 21, 2023 |
ZBTB18 | 1 | Feb 28, 2018 |
ZC4H2 | 1 | Feb 28, 2018 |
ZDHHC24 | 1 | Feb 28, 2018 |
ZEB2 | 3 | Dec 21, 2023 |
ZFYVE26 | 35 | Jan 5, 2024 |
ZNF148 | 1 | Feb 28, 2018 |
ZNF276 | 10 | Jan 5, 2024 |
ZNF423 | 2 | Dec 21, 2023 |
ZNF469 | 15 | Dec 21, 2023 |
ZNF518A | 1 | May 26, 2021 |
Condition
Testing in GTR
Disease name | Number of tests |
---|---|
2-hydroxyglutaric aciduria | 1 test |
3-Methylglutaconic aciduria | 1 test |
3-Methylglutaconic aciduria type 2 | 1 test |
3-methylglutaconic aciduria type 5 | 3 tests |
3-methylglutaconic aciduria, type VIIA | 1 test |
3-methylglutaconic aciduria, type VIIB | 1 test |
46,XX testicular disorder of sex development | 1 test |
46,xx gonadal dysgenesis, complete, sry-positive | 1 test |
ALG1-congenital disorder of glycosylation | 1 test |
ALPI-related inflammatory bowel disease | 1 test |
Abacavir hypersensitivity | 1 test |
Abetalipoproteinaemia | 1 test |
Acid sphingomyelinase deficiency | 1 test |
Acrodysostosis with multiple hormone resistance | 1 test |
Acromicric dysplasia | 4 tests |
Activated PI3K-delta syndrome | 2 tests |
Acute febrile neutrophilic dermatosis | 2 tests |
Acute intermittent porphyria | 7 tests |
Acute myeloid leukemia | 4 tests |
Adams-Oliver syndrome | 3 tests |
Adenine phosphoribosyltransferase deficiency | 1 test |
Adrenoleukodystrophy | 4 tests |
Adrenomyeloneuropathy | 2 tests |
Adult Krabbe disease | 1 test |
Adult hypophosphatasia | 1 test |
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy | 1 test |
Afibrinogenemia | 1 test |
Agammaglobulinemia | 2 tests |
Agammaglobulinemia 2, autosomal recessive | 1 test |
Agammaglobulinemia 3, autosomal recessive | 1 test |
Agammaglobulinemia 4, autosomal recessive | 1 test |
Agammaglobulinemia 6, autosomal recessive | 1 test |
Agammaglobulinemia 7, autosomal recessive | 1 test |
Agammaglobulinemia 8, autosomal dominant | 1 test |
Agammaglobulinemia 8b, autosomal recessive | 1 test |
Aganglionic megacolon | 1 test |
Aicardi Goutieres syndrome | 2 tests |
Aicardi Goutieres syndrome 1, autosomal dominant | 1 test |
Aicardi-Goutieres syndrome 1 | 1 test |
Aicardi-Goutieres syndrome 2 | 1 test |
Aicardi-Goutieres syndrome 3 | 1 test |
Aicardi-Goutieres syndrome 4 | 1 test |
Aicardi-Goutieres syndrome 5 | 1 test |
Aicardi-Goutieres syndrome 6 | 1 test |
Aicardi-Goutieres syndrome 7 | 3 tests |
Aicardi-Goutieres syndrome 8 | 1 test |
Aicardi-Goutieres syndrome 9 | 1 test |
Alagille syndrome due to a JAG1 point mutation | 4 tests |
Alagille syndrome due to a NOTCH2 point mutation | 4 tests |
Alkaptonuria | 1 test |
Allopurinol response | 1 test |
Alpha-1-antitrypsin deficiency | 1 test |
Alport syndrome | 2 tests |
Alstrom syndrome | 3 tests |
Alzheimer disease 2 | 1 test |
Ambiguous genitalia | 1 test |
Amelogenesis imperfecta type 1G | 1 test |
Amyloidogenic transthyretin amyloidosis | 1 test |
Amyotrophic lateral sclerosis | 2 tests |
Amyotrophic lateral sclerosis type 1 | 1 test |
Amyotrophic neuralgia | 1 test |
Anauxetic dysplasia 1 | 1 test |
Andersen Tawil syndrome | 5 tests |
Anemia, nonspherocytic hemolytic, due to G6PD deficiency | 3 tests |
Aneurysmal bone cyst | 1 test |
Angelman syndrome | 1 test |
Angelman syndrome due to paternal uniparental disomy of chromosome 15 | 1 test |
Anomaly of sex chromosome | 3 tests |
Antenatal Bartter syndrome | 1 test |
Aplastic anemia | 4 tests |
Arginine:glycine amidinotransferase deficiency | 3 tests |
Arrhythmogenic cardiomyopathy | 7 tests |
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma | 4 tests |
Arrhythmogenic right ventricular cardiomyopathy | 7 tests |
Arterial tortuosity syndrome | 3 tests |
Arylsulfatase A pseudodeficiency | 1 test |
Asperger syndrome, susceptibility to | 1 test |
Ataxia-pancytopenia syndrome | 1 test |
Ataxia-telangiectasia syndrome | 2 tests |
Atazanavir response | 2 tests |
Athabaskan severe combined immunodeficiency | 2 tests |
Atomoxetine response | 1 test |
Atorvastatin response | 1 test |
Atrial fibrillation | 7 tests |
Atypical hemolytic-uremic syndrome | 2 tests |
Atypical hemolytic-uremic syndrome with thrombomodulin anomaly | 1 test |
Autism spectrum disorder | 2 tests |
Autoimmune disease | 1 test |
Autoimmune disease, multisystem, infantile-onset | 2 tests |
Autoimmune disease, multisystem, infantile-onset, 2 | 3 tests |
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome | 1 test |
Autoimmune interstitial lung disease-arthritis syndrome | 1 test |
Autoimmune lymphoproliferative syndrome | 3 tests |
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency | 5 tests |
Autoimmune lymphoproliferative syndrome type 1 | 1 test |
Autoimmune lymphoproliferative syndrome type 1, autosomal recessive | 1 test |
Autoimmune lymphoproliferative syndrome type 2A | 3 tests |
Autoimmune lymphoproliferative syndrome type 2B | 2 tests |
Autoimmune lymphoproliferative syndrome, type 1a | 1 test |
Autoimmune lymphoproliferative syndrome, type 1b | 2 tests |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD | 6 tests |
Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia | 1 test |
Autoimmune polyglandular syndrome type 1, autosomal dominant | 1 test |
Autoimmune polyglandular syndrome type 1, with reversible metaphyseal dysplasia | 2 tests |
Autoinflammation with arthritis and dyskeratosis | 1 test |
Autoinflammation with episodic fever and lymphadenopathy | 3 tests |
Autoinflammation, immune dysregulation, and eosinophilia | 3 tests |
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation | 3 tests |
Autoinflammatory disease, X-linked | 2 tests |
Autoinflammatory disease, systemic, with vasculitis | 1 test |
Autoinflammatory syndrome | 2 tests |
Autoinflammatory syndrome, familial, Behcet-like | 3 tests |
Autoinflammatory syndrome, familial, Behcet-like 1 | 3 tests |
Autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency | 1 test |
Autosomal chromosomal disorder | 5 tests |
Autosomal dominant distal myopathy | 1 test |
Autosomal dominant hypocalcemia | 2 tests |
Autosomal dominant hypocalcemia 2 | 1 test |
Autosomal dominant medullary cystic kidney disease with or without hyperuricemia | 1 test |
Autosomal dominant polycystic kidney disease | 2 tests |
Autosomal dominant polycystic liver disease | 1 test |
Autosomal recessive agammaglobulinemia 1 | 1 test |
Autosomal recessive dyskeratosis congenita 4 | 2 tests |
Autosomal recessive familial Mediterranean fever | 2 tests |
Autosomal recessive inherited pseudoxanthoma elasticum | 1 test |
Autosomal recessive polycystic kidney disease | 1 test |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency | 1 test |
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | 2 tests |
Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency | 1 test |
Autosomal recessive spinocerebellar ataxia 14 | 1 test |
Autosomal systemic lupus erythematosus type 16 | 1 test |
Autosomal uniparental disomy | 1 test |
Azathioprine response | 1 test |
Azorean disease | 1 test |
B-cell immunodeficiency, distal limb anomalies, and urogenital malformations | 1 test |
BAP1-related tumor predisposition syndrome | 1 test |
BENTA disease | 2 tests |
Baraitser-Winter syndrome | 2 tests |
Bare Lymphocyte Syndrome, Type II, Complementation Group D | 1 test |
Bare lymphocyte syndrome type 2, complementation group A | 1 test |
Bare lymphocyte syndrome type 2, complementation group E | 1 test |
Bare lymphocyte syndrome, type II, complementation group B | 1 test |
Bare lymphocyte syndrome, type II, complementation group c | 1 test |
Bartter Syndrome Type 4B, CLCNKA/CLCNKB Digenic | 1 test |
Bartter disease type 1 | 2 tests |
Bartter disease type 2 | 2 tests |
Bartter disease type 3 | 2 tests |
Bartter disease type 4A | 2 tests |
Bartter disease type 4B | 1 test |
Bartter disease type 5 | 2 tests |
Bartter syndrome | 3 tests |
Bartter syndrome with hypocalcemia | 1 test |
Batten-Turner congenital myopathy | 1 test |
Becker muscular dystrophy | 5 tests |
Beckwith-Wiedemann syndrome | 2 tests |
Belinostat response | 2 tests |
Berardinelli-Seip congenital lipodystrophy | 1 test |
Beta-thalassemia and related diseases | 1 test |
Bethlem myopathy | 2 tests |
Bile acid malabsorption, primary, 1 | 1 test |
Bile acid malabsorption, primary, 2 | 1 test |
Biotinidase deficiency | 1 test |
Birt-Hogg-Dube syndrome | 1 test |
Blau syndrome | 1 test |
Blepharophimosis - intellectual disability syndrome, Ohdo type | 2 tests |
Bone marrow failure syndrome 3 | 1 test |
Branchial arch or oral-acral syndrome | 1 test |
Brittle cornea syndrome | 2 tests |
Bruck syndrome | 1 test |
Brugada syndrome | 6 tests |
Bupropion response | 1 test |
Burkitt lymphoma | 1 test |
C1Q deficiency | 1 test |
C1Q deficiency 2 | 1 test |
C1Q deficiency 3 | 1 test |
CARASIL syndrome | 1 test |
CHARGE association | 2 tests |
COL4A1 or COL4A2-related cerebral small vessel disease | 2 tests |
Candidiasis, familial, 6 | 1 test |
Candidiasis, familial, 8 | 1 test |
Candidiasis, familial, 9 | 1 test |
Capecitabine response | 2 tests |
Capillary malformation-arteriovenous malformation syndrome | 2 tests |
Carbamazepine hypersensitivity | 1 test |
Carbamazepine response | 1 test |
Carcinoid syndrome | 2 tests |
Cardiac arrhythmia | 9 tests |
Cardiac valvular dysplasia, X-linked | 3 tests |
Cardiofaciocutaneous syndrome 1 | 5 tests |
Cardiofaciocutaneous syndrome 2 | 5 tests |
Cardiofaciocutaneous syndrome 3 | 5 tests |
Cardiofaciocutaneous syndrome 4 | 5 tests |
Cardiomyopathy | 8 tests |
Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis | 5 tests |
Carney complex | 1 test |
Carnitine acylcarnitine translocase deficiency | 1 test |
Carnitine palmitoyl transferase II deficiency, severe infantile form | 1 test |
Carnitine palmitoyltransferase II deficiency | 4 tests |
Catechol-o-methyltransferase deficiency | 1 test |
Catecholaminergic polymorphic ventricular tachycardia 1 | 7 tests |
Cerebral amyloid angiopathy | 1 test |
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | 1 test |
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy | 1 test |
Cerebral cavernous malformation | 2 tests |
Cerebroretinal microangiopathy with calcifications and cysts 1 | 1 test |
Cerebroretinal microangiopathy with calcifications and cysts 2 | 1 test |
Char syndrome | 1 test |
Charcot-Marie-Tooth disease | 1 test |
Charcot-Marie-Tooth disease, type IA | 1 test |
Chilblain lupus 1 | 1 test |
Childhood hypophosphatasia | 1 test |
Childhood onset GLUT1 deficiency syndrome 2 | 1 test |
Childhood-onset cerebral X-linked adrenoleukodystrophy | 1 test |
Chlorpropamide response | 1 test |
Cholestanol storage disease | 7 tests |
Cholestasis, infantile, NR1H4 related | 1 test |
Cholestasis, progressive familial intrahepatic, 4 | 1 test |
Cholestasis, progressive familial intrahepatic, 5 | 1 test |
Cholesteryl ester storage disease | 1 test |
Chondrodysplasia punctata 2 X-linked dominant | 1 test |
Chromosome 22q11.2 microduplication syndrome | 1 test |
Chronic granulomatous disease | 1 test |
Chronic infantile neurological, cutaneous and articular syndrome | 1 test |
Chronic myelomonocytic leukemia | 1 test |
Chylomicron retention disease | 1 test |
Chylomicronemia syndrome | 1 test |
Chédiak-Higashi syndrome | 3 tests |
Citalopram response | 2 tests |
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | 1 test |
Classic homocystinuria | 2 tests |
Clopidogrel response | 1 test |
Coats plus syndrome | 1 test |
Codeine response | 1 test |
Coenzyme Q10 deficiency | 1 test |
Coenzyme Q10 deficiency, primary, 1 | 1 test |
Cohen syndrome | 1 test |
Cold-induced sweating syndrome 1 | 1 test |
Cold-induced sweating syndrome 2 | 1 test |
Cole-Carpenter syndrome | 1 test |
Colon cancer | 1 test |
Colorectal / endometrial cancer | 2 tests |
Colorectal cancer | 3 tests |
Combined immunodeficiency | 1 test |
Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia | 1 test |
Combined immunodeficiency due to CD3gamma deficiency | 3 tests |
Combined immunodeficiency due to DOCK8 deficiency | 3 tests |
Combined immunodeficiency due to GINS1 deficiency | 1 test |
Combined immunodeficiency due to LRBA deficiency | 6 tests |
Combined immunodeficiency due to MALT1 deficiency | 1 test |
Combined immunodeficiency due to ORAI1 deficiency | 2 tests |
Combined immunodeficiency due to POLE2 deficiency | 1 test |
Combined immunodeficiency due to STIM1 deficiency | 4 tests |
Combined immunodeficiency due to STK4 deficiency | 2 tests |
Combined immunodeficiency due to partial RAG1 deficiency | 3 tests |
Combined immunodeficiency with faciooculoskeletal anomalies | 1 test |
Combined immunodeficiency, X-linked | 2 tests |
Combined molybdoflavoprotein enzyme deficiency | 1 test |
Combined oxidative phosphorylation defect type 17 | 3 tests |
Combined oxidative phosphorylation deficiency | 4 tests |
Common variable immunodeficiency | 3 tests |
Complement 3 glomerulopathy | 1 test |
Complement component 2 deficiency | 1 test |
Complement component C1r/C1s deficiency | 1 test |
Complement component C1s deficiency | 1 test |
Complete trisomy 13 syndrome | 3 tests |
Complete trisomy 21 syndrome | 3 tests |
Complex V deficiency | 1 test |
Complex lethal osteochondrodysplasia | 1 test |
Comprehensive testing for inherited renal disease | 1 test |
Congenital adrenal hyperplasia | 1 test |
Congenital afibrinogenemia | 1 test |
Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome | 1 test |
Congenital chromosomal disease | 5 tests |
Congenital contractural arachnodactyly | 2 tests |
Congenital diarrhea | 1 test |
Congenital diarrhea 5 with tufting enteropathy | 1 test |
Congenital diarrhea 6 | 1 test |
Congenital diarrhea 7 with exudative enteropathy | 1 test |
Congenital disorder of glycosylation | 3 tests |
Congenital disorder of glycosylation type II | 1 test |
Congenital disorder of glycosylation, type ICC | 4 tests |
Congenital disorder of glycosylation, type IIw | 2 tests |
Congenital dyserythropoietic anemia | 2 tests |
Congenital dyserythropoietic anemia type 4 | 1 test |
Congenital dyserythropoietic anemia, type I | 1 test |
Congenital dyserythropoietic anemia, type II | 1 test |
Congenital generalized lipodystrophy | 1 test |
Congenital glucose-galactose malabsorption | 1 test |
Congenital heart disease | 9 tests |
Congenital lactase deficiency | 1 test |
Congenital long QT syndrome | 8 tests |
Congenital malabsorptive diarrhea 4 | 1 test |
Congenital microvillous atrophy | 1 test |
Congenital muscular dystrophy due to LMNA mutation | 6 tests |
Congenital myasthenic syndrome | 2 tests |
Congenital neutropenia | 2 tests |
Congenital neutropenia-myelofibrosis-nephromegaly syndrome | 1 test |
Congenital prothrombin deficiency | 1 test |
Congenital secretory diarrhea, chloride type | 1 test |
Congenital secretory sodium diarrhea 8 | 1 test |
Congenital sensory neuropathy with selective loss of small myelinated fibers | 1 test |
Congenital short bowel syndrome, X-linked | 3 tests |
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome | 2 tests |
Congenital sodium diarrhea | 1 test |
Conotruncal heart malformations | 1 test |
Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome | 1 test |
Coronary artery disease, autosomal dominant 2 | 2 tests |
Costello syndrome | 5 tests |
Cranioectodermal dysplasia 2 | 1 test |
Creatine transporter deficiency | 1 test |
Crigler-Najjar syndrome | 2 tests |
Crigler-Najjar syndrome type 1 | 2 tests |
Crigler-Najjar syndrome, type II | 1 test |
Cutaneous porphyria | 3 tests |
Cutis laxa | 3 tests |
Cystic fibrosis | 2 tests |
Cystinuria | 2 tests |
D,L-2-hydroxyglutaric aciduria | 1 test |
D-2-hydroxyglutaric aciduria | 2 tests |
D-2-hydroxyglutaric aciduria 1 | 1 test |
D-2-hydroxyglutaric aciduria 2 | 1 test |
DK1-congenital disorder of glycosylation | 3 tests |
DNA ligase IV deficiency | 2 tests |
DOCK2 deficiency | 1 test |
Danon disease | 4 tests |
Deafness-lymphedema-leukemia syndrome | 3 tests |
Deficiency of alpha-mannosidase | 1 test |
Deficiency of guanidinoacetate methyltransferase | 3 tests |
Deficiency of isobutyryl-CoA dehydrogenase | 3 tests |
Deficiency of mevalonate kinase | 3 tests |
Deficiency of ribose-5-phosphate isomerase | 1 test |
Deficiency of steroid 11-beta-monooxygenase | 1 test |
Deficiency of transaldolase | 1 test |
Dehydrated hereditary stomatocytosis 2 | 1 test |
Delayed puberty | 1 test |
Dent disease | 2 tests |
Dent disease type 2 | 1 test |
Dentatorubral-pallidoluysian atrophy | 1 test |
Desmosterolosis | 1 test |
DiGeorge syndrome | 2 tests |
Diamond-Blackfan anemia 1 | 2 tests |
Diaphyseal dysplasia | 2 tests |
Diarrhea 10, protein-losing enteropathy type | 1 test |
Diarrhea 12, with microvillus atrophy | 1 test |
Diffuse interstitial pulmonary fibrosis | 1 test |
Dihydropyrimidine dehydrogenase deficiency | 3 tests |
Dilated cardiomyopathy 3B | 1 test |
Disorder of fatty acid metabolism | 3 tests |
Disorder of fatty acid oxidation and ketogenesis | 1 test |
Disorder of galactose metabolism | 1 test |
Disorder of ketone body transport | 1 test |
Disorder of organic acid metabolism | 1 test |
Disorder of phenylalanine metabolism | 1 test |
Disorder of protein N-glycosylation | 1 test |
Disorder of the urea cycle metabolism | 1 test |
Disorder of tyrosine metabolism | 1 test |
Distal renal tubular acidosis | 1 test |
Distal weakness | 1 test |
Dizygotic twins | 1 test |
Dominant beta-thalassemia | 2 tests |
Drash syndrome | 1 test |
Drug metabolism or response | 16 tests |
Duchenne and Becker muscular dystrophy | 1 test |
Duchenne muscular dystrophy | 5 tests |
Dysfibrinogenemia | 1 test |
Dyskeratosis congenita | 2 tests |
Dyskeratosis congenita, X-linked | 2 tests |
Dyskeratosis congenita, autosomal dominant 1 | 1 test |
Dyskeratosis congenita, autosomal dominant 2 | 1 test |
Dyskeratosis congenita, autosomal dominant 3 | 1 test |
Dyskeratosis congenita, autosomal dominant 4 | 1 test |
Dyskeratosis congenita, autosomal dominant 6 | 1 test |
Dyskeratosis congenita, autosomal recessive 1 | 1 test |
Dyskeratosis congenita, autosomal recessive 2 | 1 test |
Dyskeratosis congenita, autosomal recessive 3 | 1 test |
Dyskeratosis congenita, autosomal recessive 5 | 2 tests |
Dyskeratosis congenita, autosomal recessive 6 | 1 test |
Dyskeratosis congenita, autosomal recessive 7 | 1 test |
Dyssynergia | 1 test |
Ectodermal dysplasia | 1 test |
Ectodermal dysplasia and immune deficiency | 2 tests |
Ectodermal dysplasia and immunodeficiency 1 | 1 test |
Ectodermal dysplasia and immunodeficiency 2 | 1 test |
Ectodermal dysplasia, X-linked | 1 test |
Ectopia lentis | 4 tests |
Efavirenz response | 1 test |
Ehlers-Danlos syndrome | 4 tests |
Ehlers-Danlos syndrome due to tenascin-X deficiency | 2 tests |
Ehlers-Danlos syndrome, arthrochalasis type | 3 tests |
Ehlers-Danlos syndrome, cardiac valvular type | 3 tests |
Ehlers-Danlos syndrome, classic type | 4 tests |
Ehlers-Danlos syndrome, classic-like, 2 | 2 tests |
Ehlers-Danlos syndrome, dermatosparaxis type | 2 tests |
Ehlers-Danlos syndrome, musculocontractural type | 2 tests |
Ehlers-Danlos syndrome, periodontal type 2 | 1 test |
Ehlers-Danlos syndrome, periodontitis type | 1 test |
Ehlers-Danlos syndrome, type 4 | 4 tests |
Ehlers-Danlos/osteogenesis imperfecta syndrome | 3 tests |
Elliptocytosis 1 | 2 tests |
Elliptocytosis 2 | 2 tests |
Elliptocytosis 3 | 2 tests |
Emery-Dreifuss muscular dystrophy | 7 tests |
Encephalitis, acute, infection (viral)-induced, susceptibility to, 11 | 1 test |
Encephalomyopathy, mitochondrial, due to voltage-dependent anion channel deficiency | 1 test |
Encephalopathy, acute, infection-induced | 1 test |
Epidermodysplasia verruciformis | 1 test |
Epidermodysplasia verruciformis, susceptibility to, 3 | 1 test |
Epidermolysis bullosa dystrophica | 1 test |
Epidermolysis bullosa pruriginosa | 1 test |
Epilepsy | 1 test |
Episodic pain syndrome, familial, 2 | 1 test |
Erythrocytosis | 1 test |
Erythropoietic protoporphyria | 6 tests |
Escitalopram response | 2 tests |
FADD-related immunodeficiency | 3 tests |
Fabry disease | 14 tests |
Facioscapulohumeral muscular dystrophy 4, digenic | 1 test |
Factor V deficiency | 1 test |
Factor VII deficiency | 1 test |
Factor X deficiency | 1 test |
Factor XII deficiency disease | 1 test |
Factor XIII, A subunit, deficiency of | 1 test |
Factor XIII, b subunit, deficiency of | 1 test |
Familial Mediterranean fever | 2 tests |
Familial Mediterranean fever, autosomal dominant | 2 tests |
Familial Periodic Fever | 1 test |
Familial amyloid nephropathy with urticaria AND deafness | 1 test |
Familial aortopathy | 3 tests |
Familial apolipoprotein C-II deficiency | 1 test |
Familial cardiomyopathy | 8 tests |
Familial chilblain lupus | 1 test |
Familial chylomicronemia syndrome | 1 test |
Familial cold autoinflammatory syndrome | 3 tests |
Familial cold autoinflammatory syndrome 1 | 1 test |
Familial cold autoinflammatory syndrome 2 | 1 test |
Familial cold autoinflammatory syndrome 3 | 4 tests |
Familial cold autoinflammatory syndrome 4 | 1 test |
Familial dysautonomia | 1 test |
Familial episodic pain syndrome | 1 test |
Familial episodic pain syndrome with predominantly lower limb involvement | 1 test |
Familial episodic pain syndrome with predominantly upper body involvement | 1 test |
Familial erythrocytosis | 1 test |
Familial hemiplegic migraine | 1 test |
Familial hemophagocytic lymphohistiocytosis | 3 tests |
Familial hemophagocytic lymphohistiocytosis 2 | 3 tests |
Familial hemophagocytic lymphohistiocytosis 3 | 3 tests |
Familial hemophagocytic lymphohistiocytosis 4 | 3 tests |
Familial hemophagocytic lymphohistiocytosis 5 | 4 tests |
Familial hyperaldosteronism type III | 1 test |
Familial hypercholesterolemia | 2 tests |
Familial hyperreninemic hypoaldosteronism type 2 | 1 test |
Familial hypobetalipoproteinemia | 2 tests |
Familial hypocalciuric hypercalcemia | 2 tests |
Familial hypocalciuric hypercalcemia 1 | 1 test |
Familial hypocalciuric hypercalcemia 2 | 1 test |
Familial hypocalciuric hypercalcemia 3 | 1 test |
Familial hypodysfibrinogenemia | 1 test |
Familial hypokalemia-hypomagnesemia | 1 test |
Familial idiopathic steroid-resistant nephrotic syndrome | 1 test |
Familial intrahepatic cholestasis | 1 test |
Familial isolated dilated cardiomyopathy | 5 tests |
Familial juvenile gout | 2 tests |
Familial pancreatic carcinoma | 1 test |
Familial partial lipodystrophy | 1 test |
Familial prostate carcinoma | 1 test |
Familial renal hypouricemia | 1 test |
Familial thoracic aortic aneurysm and aortic dissection | 5 tests |
Familial type 3 hyperlipoproteinemia | 1 test |
Fanconi anemia | 1 test |
Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young | 1 test |
Farber lipogranulomatosis | 1 test |
Fatty acyl-CoA reductase 1 deficiency | 2 tests |
Fibrous dysplasia of jaw | 1 test |
Fish-eye disease | 1 test |
Fluoropyrimidine response | 2 tests |
Fluorouracil response | 2 tests |
Fluoxetine response | 2 tests |
Fluvoxamine response | 2 tests |
Focal segmental glomerulosclerosis | 1 test |
Follicular lymphoma | 1 test |
Fragile X syndrome | 1 test |
Fragile X-associated tremor/ataxia syndrome | 1 test |
Friedreich ataxia | 3 tests |
Friedreich ataxia 1 | 1 test |
Friedreich ataxia with retained reflexes | 1 test |
Frontometaphyseal dysplasia | 3 tests |
Frontotemporal dementia and/or amyotrophic lateral sclerosis | 2 tests |
Fucosidosis | 1 test |
Fumarase deficiency | 1 test |
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis | 1 test |
GATA2 deficiency with susceptibility to MDS/AML | 1 test |
GLUT1 deficiency syndrome | 1 test |
Galactosemia | 4 tests |
Galactosylceramide beta-galactosidase deficiency | 6 tests |
Galloway-Mowat syndrome | 1 test |
Gamma-glutamylcysteine synthetase deficiency | 2 tests |
Gastrointestinal defect and immunodeficiency syndrome | 1 test |
Gaucher disease | 7 tests |
Geleophysic dysplasia | 4 tests |
Generalized pustular psoriasis | 1 test |
Genetic cardiac rhythm disease | 9 tests |
Genetic cerebral small vessel disease | 1 test |
Gilbert syndrome | 4 tests |
Gilbert syndrome, susceptibility to | 2 tests |
Glibenclamide response | 1 test |
Glimepiride response | 1 test |
Glipizide response | 1 test |
Global developmental delay | 1 test |
Glomerulopathy with fibronectin deposits 2 | 1 test |
Glomuvenous malformation | 1 test |
Glucocorticoid-remediable aldosteronism | 1 test |
Glucose-6-phosphate transport defect | 3 tests |
Glutaric acidemia IIa | 1 test |
Glutaric acidemia IIb | 1 test |
Glutaric acidemia IIc | 1 test |
Glutaric aciduria, type 1 | 3 tests |
Glutathione synthetase deficiency without 5-oxoprolinuria | 2 tests |
Glycogen storage disease | 8 tests |
Glycogen storage disease IIIa | 3 tests |
Glycogen storage disease IIIb | 3 tests |
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | 1 test |
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency | 1 test |
Glycogen storage disease, type I | 2 tests |
Glycogen storage disease, type II | 11 tests |
Glycogen storage disease, type VII | 2 tests |
Gnathodiaphyseal dysplasia | 1 test |
Granulomatous disease, chronic, X-linked | 1 test |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 | 1 test |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 | 1 test |
Griscelli syndrome type 2 | 2 tests |
Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant | 2 tests |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive | 2 tests |
HNSHA due to aldolase A deficiency | 2 tests |
Hashimoto thyroiditis | 1 test |
Hearing loss, autosomal dominant 34, with or without inflammation | 1 test |
Hematologic disorder | 1 test |
Hematologic neoplasm | 2 tests |
Heme oxygenase 1 deficiency | 2 tests |
Hemolytic anemia | 2 tests |
Hemolytic anemia due to adenylate kinase deficiency | 2 tests |
Hemolytic anemia due to glucophosphate isomerase deficiency | 2 tests |
Hemolytic anemia due to glutathione reductase deficiency | 1 test |
Hemolytic anemia due to hexokinase deficiency | 2 tests |
Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency | 2 tests |
Hemophilia | 2 tests |
Hemophilia B leyden | 1 test |
Hepatic methionine adenosyltransferase deficiency | 1 test |
Hepatitis B virus, susceptibility to | 2 tests |
Hepatitis C virus infection, response to therapy of | 1 test |
Hepatoerythropoietic porphyria | 2 tests |
Hereditary ATTR amyloidosis | 4 tests |
Hereditary Paraganglioma-Pheochromacytoma Syndrome | 1 test |
Hereditary Wilms tumor | 1 test |
Hereditary acrodermatitis enteropathica | 1 test |
Hereditary acrokeratotic poikiloderma, Weary type | 1 test |
Hereditary angioedema type 3 | 1 test |
Hereditary antithrombin deficiency | 1 test |
Hereditary breast and/or gynecological cancer syndrome | 1 test |
Hereditary breast ovarian cancer syndrome | 1 test |
Hereditary cancer-predisposing syndrome | 3 tests |
Hereditary coproporphyria | 6 tests |
Hereditary diffuse gastric adenocarcinoma | 1 test |
Hereditary disease | 5 tests |
Hereditary elliptocytosis | 2 tests |
Hereditary endocrine tumor syndrome | 1 test |
Hereditary factor IX deficiency disease | 2 tests |
Hereditary factor VIII deficiency disease | 1 test |
Hereditary factor X deficiency disease | 1 test |
Hereditary factor XI deficiency disease | 1 test |
Hereditary gastrointestinal cancer and/or polyposis syndrome | 1 test |
Hereditary hearing loss and deafness | 1 test |
Hereditary hemochromatosis | 1 test |
Hereditary hemorrhagic telangiectasia | 2 tests |
Hereditary hyperbilirubinemia | 1 test |
Hereditary insensitivity to pain with anhidrosis | 1 test |
Hereditary leiomyomatosis and renal cell cancer | 1 test |
Hereditary liability to pressure palsies | 1 test |
Hereditary lipodystrophy | 1 test |
Hereditary motor and sensory neuropathy | 1 test |
Hereditary neutrophilia | 1 test |
Hereditary non-spherocytic hemolytic anemia | 2 tests |
Hereditary pancreatitis | 2 tests |
Hereditary sensory and autonomic neuropathy type 6 | 1 test |
Hereditary sensory and autonomic neuropathy type 7 | 1 test |
Hereditary sensory and autonomic neuropathy with spastic paraplegia | 1 test |
Hereditary sensory neuropathy-deafness-dementia syndrome | 1 test |
Hereditary spastic paraplegia | 1 test |
Hereditary spherocytosis | 2 tests |
Hereditary spherocytosis type 1 | 2 tests |
Hereditary spherocytosis type 2 | 2 tests |
Hereditary spherocytosis type 3 | 2 tests |
Hereditary spherocytosis type 4 | 2 tests |
Hereditary spherocytosis type 5 | 2 tests |
Hereditary stomatocytosis | 2 tests |
Hereditary thrombophilia due to congenital protein C deficiency | 1 test |
Hereditary thrombophilia due to congenital protein S deficiency | 1 test |
Hereditary von Willebrand disease | 1 test |
Hereditary xanthinuria | 1 test |
Hereditary xanthinuria type 1 | 1 test |
Heritable Thoracic Aortic Disease | 3 tests |
Hermansky-Pudlak syndrome | 3 tests |
Hermansky-Pudlak syndrome 1 | 1 test |
Hermansky-Pudlak syndrome 10 | 3 tests |
Hermansky-Pudlak syndrome 2 | 3 tests |
Hermansky-Pudlak syndrome 3 | 1 test |
Hermansky-Pudlak syndrome 4 | 1 test |
Hermansky-Pudlak syndrome 6 | 1 test |
Hermansky-Pudlak syndrome 9 | 1 test |
Herpes simplex encephalitis | 1 test |
Holt-Oram syndrome | 1 test |
Homocystinuria | 3 tests |
Hormone receptor-positive breast cancer | 2 tests |
Huntington disease | 1 test |
Hutchinson-Gilford syndrome | 1 test |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant | 5 tests |
Hyper-IgE recurrent infection syndrome 3, autosomal recessive | 2 tests |
Hyper-IgE recurrent infection syndrome 4, autosomal recessive | 1 test |
Hyper-IgE recurrent infection syndrome 4A, autosomal dominant | 1 test |
Hyper-IgE recurrent infection syndrome 5, autosomal recessive | 1 test |
Hyper-IgE syndrome | 2 tests |
Hyper-IgM syndrome type 1 | 2 tests |
Hyper-IgM syndrome type 2 | 1 test |
Hypercalcemia, infantile, 1 | 1 test |
Hypercalcemia, infantile, 2 | 1 test |
Hypercalciuria, absorptive, 1 | 1 test |
Hyperimmunoglobulin D with periodic fever | 3 tests |
Hyperimmunoglobulin M syndrome | 2 tests |
Hyperkalemic periodic paralysis | 1 test |
Hyperlipidemia due to hepatic triglyceride lipase deficiency | 1 test |
Hyperlipidemia, familial combined, LPL related | 2 tests |
Hyperlipoproteinemia | 2 tests |
Hyperlipoproteinemia, type 1D | 1 test |
Hyperlipoproteinemia, type I | 2 tests |
Hyperoxaluria | 1 test |
Hypertriglyceridemia 1 | 1 test |
Hypertrophic cardiomyopathy | 6 tests |
Hyperuricemic nephropathy, familial juvenile type 4 | 1 test |
Hypobetalipoproteinemia | 1 test |
Hypogonadotropic hypogonadism 5 with or without anosmia | 1 test |
Hypokalemic periodic paralysis | 1 test |
Hypomagnesemia, seizures, and intellectual disability | 1 test |
Hypoparathyroidism | 1 test |
Hypoparathyroidism, deafness, renal disease syndrome | 1 test |
Hypophosphatasia | 2 tests |
Hypophosphatemic nephrolithiasis/osteoporosis 1 | 1 test |
Hypophosphatemic nephrolithiasis/osteoporosis 2 | 1 test |
Hypophosphatemic rickets | 1 test |
Hypouricemia, renal, 2 | 1 test |
Hypoxanthine-guanine phosphoribosyltransferase deficiency | 1 test |
IKBKG-related immunodeficiency with or without ectodermal dysplasia | 3 tests |
IL21-related infantile inflammatory bowel disease | 2 tests |
IMAGe syndrome | 1 test |
Ichthyosis linearis circumflexa | 1 test |
Idiopathic hypereosinophilic syndrome | 1 test |
Imerslund-Grasbeck syndrome type 1 | 1 test |
Immune dysregulation disease with immunodeficiency | 2 tests |
Immunodeficiency 104 | 2 tests |
Immunodeficiency 106, susceptibility to viral infections | 1 test |
Immunodeficiency 109 with lymphoproliferation | 3 tests |
Immunodeficiency 115 with autoinflammation | 1 test |
Immunodeficiency 11b with atopic dermatitis | 6 tests |
Immunodeficiency 14 | 5 tests |
Immunodeficiency 14b, autosomal recessive | 5 tests |
Immunodeficiency 18 | 1 test |
Immunodeficiency 19 | 1 test |
Immunodeficiency 23 | 1 test |
Immunodeficiency 25 | 1 test |
Immunodeficiency 31B | 4 tests |
Immunodeficiency 31C, autosomal dominant | 2 tests |
Immunodeficiency 33 | 1 test |
Immunodeficiency 35 | 1 test |
Immunodeficiency 36 | 4 tests |
Immunodeficiency 39 | 1 test |
Immunodeficiency 45 | 2 tests |
Immunodeficiency 47 | 1 test |
Immunodeficiency 49 | 1 test |
Immunodeficiency 51 | 1 test |
Immunodeficiency 57 | 3 tests |
Immunodeficiency 60 | 2 tests |
Immunodeficiency 61 | 1 test |
Immunodeficiency 63 with lymphoproliferation and autoimmunity | 4 tests |
Immunodeficiency 64 | 3 tests |
Immunodeficiency 65, susceptibility to viral infections | 1 test |
Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia | 3 tests |
Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia | 3 tests |
Immunodeficiency 74, COVID-19-related, X-linked | 2 tests |
Immunodeficiency 75 | 3 tests |
Immunodeficiency 76 | 1 test |
Immunodeficiency 78 with autoimmunity and developmental delay | 3 tests |
Immunodeficiency 81 | 1 test |
Immunodeficiency 83, susceptibility to viral infections | 1 test |
Immunodeficiency 87 and autoimmunity | 4 tests |
Immunodeficiency 94 with autoinflammation and dysmorphic facies | 1 test |
Immunodeficiency 95 | 1 test |
Immunodeficiency 96 | 1 test |
Immunodeficiency 98 with autoinflammation, X-linked | 1 test |
Immunodeficiency due to CD25 deficiency | 3 tests |
Immunodeficiency due to defect in CD3-gamma | 1 test |
Immunodeficiency, Polyendocrinopathy, and Enteropathy X-Linked Syndrome | 1 test |
Immunodeficiency, X-linked, with hyper-IgM | 1 test |
Immunodeficiency, common variable, 1 | 3 tests |
Immunodeficiency, common variable, 10 | 1 test |
Immunodeficiency, common variable, 12 | 1 test |
Immunodeficiency, common variable, 14 | 1 test |
Immunodeficiency, common variable, 2 | 1 test |
Immunodeficiency, common variable, 3 | 1 test |
Immunodeficiency, common variable, 4 | 1 test |
Immunodeficiency, common variable, 5 | 1 test |
Immunodeficiency, common variable, 6 | 1 test |
Immunodeficiency, common variable, 7 | 1 test |
Immunodeficiency, common variable, due to APRIL deficiency | 1 test |
Immunodeficiency-centromeric instability-facial anomalies syndrome 1 | 1 test |
Immunodeficiency-centromeric instability-facial anomalies syndrome 2 | 1 test |
Immunodeficiency-centromeric instability-facial anomalies syndrome 3 | 1 test |
Immunoglobulin A deficiency 2 | 1 test |
Immunoskeletal dysplasia with neurodevelopmental abnormalities | 1 test |
Inborn disorder of bile acid synthesis | 1 test |
Inborn disorder of cobalamin metabolism and transport | 1 test |
Inborn disorder of purine or pyrimidine metabolism | 2 tests |
Inborn errors of metabolism | 2 tests |
Inborn mitochondrial myopathy | 1 test |
Incontinentia pigmenti syndrome | 3 tests |
Increased HDL cholesterol concentration | 1 test |
Infantile Krabbe disease | 5 tests |
Infantile hypophosphatasia | 1 test |
Infantile-onset periodic fever-panniculitis-dermatosis syndrome | 1 test |
Infertility disorder | 1 test |
Inflammatory bowel disease | 2 tests |
Inflammatory bowel disease 25 | 3 tests |
Inflammatory bowel disease 28 | 3 tests |
Inflammatory bowel disease, immunodeficiency, and encephalopathy | 2 tests |
Inflammatory skin and bowel disease, neonatal, 1 | 2 tests |
Inherited renal cancer-predisposing syndrome | 1 test |
Inherited rippling muscle disease | 2 tests |
Insulin-dependent diabetes mellitus secretory diarrhea syndrome | 1 test |
Intestinal hypomagnesemia 1 | 1 test |
Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked | 3 tests |
Irinotecan response | 2 tests |
Jervell and Lange-Nielsen syndrome | 4 tests |
Joubert syndrome 10 | 1 test |
Junctional epidermolysis bullosa | 1 test |
Juvenile arthritis due to defect in LACC1 | 1 test |
Juvenile myelomonocytic leukemia | 1 test |
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 1 test |
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | 4 tests |
Kabuki syndrome 1 | 1 test |
Kabuki syndrome 2 | 1 test |
Karyomegalic interstitial nephritis | 1 test |
Kearns-Sayre syndrome | 1 test |
Kennedy disease | 1 test |
Keppen-Lubinsky syndrome | 1 test |
Keratitis fugax hereditaria | 1 test |
Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome | 1 test |
Ketamine response | 1 test |
Kidney disorder | 1 test |
Kindler syndrome | 1 test |
Klinefelter syndrome | 2 tests |
Kostmann syndrome | 1 test |
Kyphoscoliotic Ehlers-Danlos syndrome | 2 tests |
L-2-hydroxyglutaric aciduria | 2 tests |
LCAT deficiency | 1 test |
LIPE-related familial partial lipodystrophy | 1 test |
LRP5-related primary osteoporosis | 1 test |
Larsen-like syndrome, B3GAT3 type | 2 tests |
Late-infantile/juvenile Krabbe disease | 1 test |
Lateral meningocele syndrome | 1 test |
Lathosterolosis | 1 test |
Lazy leukocyte syndrome | 1 test |
Left ventricular noncompaction | 6 tests |
Left ventricular noncompaction cardiomyopathy | 6 tests |
Legius syndrome | 1 test |
Leigh Syndrome (mtDNA mutation) | 1 test |
Leigh Syndrome (nuclear DNA mutation) | 1 test |
Leigh syndrome | 2 tests |
Leigh syndrome due to mitochondrial complex IV deficiency | 1 test |
Leigh syndrome due to mitochondrial complex V deficiency | 1 test |
Lesch-Nyhan syndrome | 2 tests |
Leukemia, acute myeloid, susceptibility to | 1 test |
Leukocyte adhesion deficiency | 2 tests |
Leukocyte adhesion deficiency 1 | 1 test |
Liddle syndrome 1 | 1 test |
Liddle syndrome 2 | 1 test |
Limb-girdle muscular dystrophy | 5 tests |
Lipase deficiency, combined | 1 test |
Lipodystrophy | 1 test |
Lipogranulomatosis | 1 test |
Loeys-Dietz syndrome | 4 tests |
Loeys-Dietz syndrome 1 | 2 tests |
Loeys-Dietz syndrome 2 | 2 tests |
Long QT syndrome | 8 tests |
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency | 1 test |
Lowe syndrome | 2 tests |
Lymphoblastic leukemia, acute, with lymphomatous features | 1 test |
Lymphoma, non-Hodgkin, familial | 1 test |
Lymphoproliferative syndrome 1 | 3 tests |
Lymphoproliferative syndrome 2 | 4 tests |
Lynch syndrome | 2 tests |
Lynch syndrome 8 | 1 test |
Lysinuric protein intolerance | 1 test |
Lysosomal acid lipase deficiency | 2 tests |
Lysosomal storage disease | 3 tests |
MASS syndrome | 4 tests |
MEND syndrome | 1 test |
MOGS-congenital disorder of glycosylation | 1 test |
MPI-congenital disorder of glycosylation | 1 test |
MYO5B-related progressive familial intrahepatic cholestasis | 1 test |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss | 1 test |
Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome | 2 tests |
Majeed syndrome | 1 test |
Malignant hematological disorder | 1 test |
Malignant lymphoma, large B-cell, diffuse | 2 tests |
Mandibuloacral dysplasia with type B lipodystrophy | 2 tests |
Mantle cell lymphoma | 1 test |
Maple syrup urine disease | 1 test |
Marfan syndrome | 4 tests |
McLeod neuroacanthocytosis syndrome | 1 test |
Meconium ileus | 1 test |
Medium-chain acyl-coenzyme A dehydrogenase deficiency | 2 tests |
Meester-Loeys syndrome | 2 tests |
Melanoma | 1 test |
Melnick-Needles syndrome | 3 tests |
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency | 1 test |
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency | 4 tests |
Menkes kinky-hair syndrome | 2 tests |
Mercaptopurine response | 1 test |
Metabolic myopathy | 1 test |
Metachondromatosis | 1 test |
Metachromatic leukodystrophy | 2 tests |
Metaphyseal chondrodysplasia, McKusick type | 1 test |
Metaphyseal dysplasia without hypotrichosis | 1 test |
Methadone response | 1 test |
Methylmalonic acidemia | 4 tests |
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | 1 test |
Mevalonic aciduria | 3 tests |
Migraine | 1 test |
Miscarriage | 1 test |
Mitochondrial complex 4 deficiency, nuclear type 11 | 1 test |
Mitochondrial complex I deficiency | 5 tests |
Mitochondrial complex I deficiency, mitochondrial type | 1 test |
Mitochondrial complex II deficiency, nuclear type 1 | 1 test |
Mitochondrial complex III deficiency | 1 test |
Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 | 4 tests |
Mitochondrial disease | 5 tests |
Mitochondrial disorder due to a defect in mitochondrial protein synthesis | 1 test |
Mitochondrial encephalomyopathy | 1 test |
Mitochondrial encephalopathy | 1 test |
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency | 3 tests |
Mitochondrial myopathy with diabetes | 1 test |
Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy | 1 test |
Mitochondrial myopathy, isolated | 1 test |
Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome | 1 test |
Mitochondrial neurogastrointestinal encephalomyopathy | 1 test |
Mitochondrial oxidative phosphorylation disorder | 1 test |
Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA | 1 test |
Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA | 1 test |
Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies | 1 test |
Mitochondrial trifunctional protein deficiency | 1 test |
Monocytopenia with susceptibility to infections | 3 tests |
Monosomy 7 myelodysplasia and leukemia syndrome 1 | 1 test |
Motor neuron disease | 1 test |
Moyamoya disease | 3 tests |
Mucolipidosis type II | 1 test |
Mucopolysaccharidoses, unclassified types | 1 test |
Mucopolysaccharidosis | 5 tests |
Mucopolysaccharidosis type 1 | 3 tests |
Mucopolysaccharidosis type 6 | 4 tests |
Mucopolysaccharidosis type 7 | 4 tests |
Mucopolysaccharidosis, MPS-II | 5 tests |
Mucopolysaccharidosis, MPS-III-A | 4 tests |
Mucopolysaccharidosis, MPS-III-B | 4 tests |
Mucopolysaccharidosis, MPS-III-C | 4 tests |
Mucopolysaccharidosis, MPS-III-D | 2 tests |
Mucopolysaccharidosis, MPS-IV-A | 4 tests |
Mucopolysaccharidosis, MPS-IV-B | 4 tests |
Mucosa-associated lymphoma | 1 test |
Multiple acyl-CoA dehydrogenase deficiency | 4 tests |
Multiple cutaneous and mucosal venous malformations | 2 tests |
Multiple endocrine neoplasia, type 2 | 1 test |
Multiple gastrointestinal atresias | 1 test |
Multiple self-healing squamous epithelioma | 2 tests |
Multiple sulfatase deficiency | 5 tests |
Muscular dystrophy | 1 test |
Muscular dystrophy-dystroglycanopathy | 3 tests |
Myelodysplastic syndrome | 2 tests |
Myofibrillar myopathy | 6 tests |
Myopathy with giant abnormal mitochondria | 1 test |
Myopathy, lactic acidosis, and sideroblastic anemia | 1 test |
Myopathy, tubular aggregate, 1 | 4 tests |
Myopathy, tubular aggregate, 2 | 1 test |
Myosin storage myopathy | 3 tests |
NARP syndrome | 2 tests |
Nail-patella syndrome | 1 test |
Naxos disease | 5 tests |
Nemaline myopathy | 3 tests |
Neonatal Marfan syndrome | 4 tests |
Neonatal severe primary hyperparathyroidism | 2 tests |
Nephrogenic diabetes insipidus | 1 test |
Nephrogenic syndrome of inappropriate antidiuresis | 1 test |
Nephrolithiasis/nephrocalcinosis | 1 test |
Nephronophthisis | 1 test |
Nephrotic syndrome | 1 test |
Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures | 1 test |
Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion | 1 test |
Neurohypophyseal diabetes insipidus | 1 test |
Neuromuscular disease | 1 test |
Neuronal ceroid lipofuscinosis | 2 tests |
Neuronal ceroid lipofuscinosis 1 | 2 tests |
Neuronal ceroid lipofuscinosis 2 | 2 tests |
Neuronopathy, distal hereditary motor, type 2A | 1 test |
Neuronopathy, distal hereditary motor, type 2B | 1 test |
Neuronopathy, distal hereditary motor, type 2D | 1 test |
Neuronopathy, distal hereditary motor, type 5A | 1 test |
Neuronopathy, distal hereditary motor, type 5C | 1 test |
Neuronopathy, distal hereditary motor, type 7A | 1 test |
Neuronopathy, distal hereditary motor, type 7B | 1 test |
Neuropathy, hereditary sensory and autonomic, type 1A | 1 test |
Neuropathy, hereditary sensory and autonomic, type 1C | 1 test |
Neuropathy, hereditary sensory and autonomic, type 2A | 1 test |
Neuropathy, hereditary sensory and autonomic, type 2B | 1 test |
Neuropathy, hereditary sensory and autonomic, type IId | 1 test |
Neuropathy, hereditary sensory, type 1D | 1 test |
Neuropathy, hereditary sensory, type 1F | 1 test |
Neuropathy, hereditary sensory, type 2C | 1 test |
Neutropenia, severe congenital, 1, autosomal dominant | 1 test |
Neutropenia, severe congenital, 2, autosomal dominant | 1 test |
Neutropenia, severe congenital, 8, autosomal dominant | 1 test |
Neutropenia, severe congenital, 9, autosomal dominant | 1 test |
Neutrophil immunodeficiency syndrome | 3 tests |
Nevirapine response | 1 test |
Nicotine dependence | 1 test |
Niemann-Pick disease, type A | 7 tests |
Niemann-Pick disease, type B | 7 tests |
Niemann-Pick disease, type C | 3 tests |
Nijmegen breakage syndrome-like disorder | 1 test |
Nilotinib response | 2 tests |
Nodular fasciitis | 1 test |
Non-small cell lung carcinoma | 1 test |
Nonimmune chronic idiopathic neutropenia of adults | 1 test |
Nonsteroidal anti-inflammatory drug response | 1 test |
Nonsyndromic congenital nail disorder 8 | 1 test |
Noonan syndrome | 6 tests |
Noonan syndrome and Noonan-related syndrome | 5 tests |
Noonan syndrome with multiple lentigines | 5 tests |
Noonan syndrome-like disorder with loose anagen hair | 6 tests |
Noonan-like syndrome | 1 test |
Norum disease | 1 test |
Obesity due to prohormone convertase I deficiency | 1 test |
Odontohypophosphatasia | 1 test |
Oligosaccharidosis | 1 test |
Ondansetron response | 1 test |
Ophthalmoplegic neuromuscular disorder with abnormal mitochondria | 1 test |
Orofaciodigital syndrome I | 2 tests |
Osteogenesis imperfecta | 3 tests |
Osteogenesis imperfecta type 10 | 1 test |
Osteogenesis imperfecta type 11 | 1 test |
Osteogenesis imperfecta type 12 | 1 test |
Osteogenesis imperfecta type 13 | 1 test |
Osteogenesis imperfecta type 14 | 1 test |
Osteogenesis imperfecta type 15 | 1 test |
Osteogenesis imperfecta type 16 | 1 test |
Osteogenesis imperfecta type 17 | 3 tests |
Osteogenesis imperfecta type 5 | 1 test |
Osteogenesis imperfecta type 6 | 1 test |
Osteogenesis imperfecta type 7 | 1 test |
Osteogenesis imperfecta type 8 | 1 test |
Osteogenesis imperfecta type 9 | 1 test |
Osteogenesis imperfecta type I | 1 test |
Osteogenesis imperfecta type III | 1 test |
Osteogenesis imperfecta, CREB3L1 related | 1 test |
Osteogenesis imperfecta, type III/IV | 1 test |
Osteootohepatoenteric syndrome | 1 test |
Osteopetrosis with renal tubular acidosis | 1 test |
Otofaciocervical syndrome 2 | 2 tests |
Otopalatodigital Spectrum Disorders | 3 tests |
PLIN1-related familial partial lipodystrophy | 1 test |
PMM2-congenital disorder of glycosylation | 4 tests |
POLR3-related leukodystrophy | 1 test |
PPARG-related familial partial lipodystrophy | 1 test |
PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3, DIGENIC | 1 test |
PTEN hamartoma tumor syndrome | 1 test |
Pancreatic adenocarcinoma | 1 test |
Pancytopenia due to IKZF1 mutations | 2 tests |
Parkinson disease | 1 test |
Paroxetine response | 2 tests |
Partial adenosine deaminase deficiency | 4 tests |
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency | 1 test |
Pazopanib response | 3 tests |
Pearson syndrome | 1 test |
Peginterferon alfa-2a response | 1 test |
Peginterferon alfa-2b response | 1 test |
Pegloticase response | 1 test |
Pelger-Huet-like anomaly and episodic fever with abdominal pain | 1 test |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome | 2 tests |
Peripheral neuropathy | 2 tests |
Periventricular nodular heterotopia | 3 tests |
Peroxisome biogenesis disorder | 6 tests |
Peroxisome biogenesis disorder 1A (Zellweger) | 1 test |
Peutz-Jeghers syndrome | 1 test |
Phenylketonuria | 1 test |
Phenytoin response | 2 tests |
Phenytoin toxicity | 2 tests |
Phosphate transport defect | 1 test |
Phosphoenolpyruvate carboxykinase deficiency, mitochondrial | 1 test |
Phosphoribosylpyrophosphate synthetase superactivity | 1 test |
Pidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome | 1 test |
Pityriasis rubra pilaris | 1 test |
Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease | 2 tests |
Poikiloderma with neutropenia | 2 tests |
Polycystic kidney disease | 1 test |
Polycystic liver disease 4 with or without kidney cysts | 1 test |
Polyendocrinopathy | 1 test |
Polyglandular autoimmune syndrome, type 1 | 2 tests |
Polyglucosan body myopathy | 1 test |
Polyglucosan body myopathy 1 with immunodeficiency | 1 test |
Polyglucosan body myopathy 1 without immunodeficiency | 1 test |
Polyglucosan body myopathy type 1 | 1 test |
Porokeratosis | 1 test |
Porokeratosis 3, disseminated superficial actinic type | 2 tests |
Porphobilinogen synthase deficiency | 2 tests |
Porphyria | 3 tests |
Porphyria cutanea tarda | 5 tests |
Prader-Willi syndrome | 1 test |
Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | 1 test |
Precursor B-cell acute lymphoblastic leukemia | 1 test |
Predisposition to invasive fungal disease due to CARD9 deficiency | 1 test |
Premature ovarian failure | 1 test |
Premature ovarian failure 1 | 1 test |
Primary CD59 deficiency | 1 test |
Primary ciliary dyskinesia | 1 test |
Primary dilated cardiomyopathy | 7 tests |
Primary familial dilated cardiomyopathy | 7 tests |
Primary familial hypertrophic cardiomyopathy | 6 tests |
Primary hyperoxaluria | 2 tests |
Primary hyperoxaluria type 3 | 2 tests |
Primary hyperoxaluria, type I | 2 tests |
Primary hyperoxaluria, type II | 2 tests |
Primary immunodeficiency with predisposition to severe viral infection | 1 test |
Progeroid and marfanoid aspect-lipodystrophy syndrome | 4 tests |
Progressive external ophthalmoplegia | 1 test |
Progressive familial intrahepatic cholestasis | 1 test |
Progressive familial intrahepatic cholestasis type 3 | 1 test |
Prolidase deficiency | 1 test |
Propionic acidemia | 6 tests |
Proteasome-associated autoinflammatory syndrome 1 | 1 test |
Proteasome-associated autoinflammatory syndrome 2 | 1 test |
Proteasome-associated autoinflammatory syndrome 3 | 1 test |
Proteasome-associated autoinflammatory syndrome 4 | 1 test |
Proteasome-associated autoinflammatory syndrome 5 | 1 test |
Protein-losing enteropathy | 2 tests |
Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis | 1 test |
Proton pump inhibitor response | 1 test |
Proximal renal tubular acidosis | 1 test |
Pseudo-TORCH syndrome | 1 test |
Pseudo-TORCH syndrome 2 | 1 test |
Pseudo-TORCH syndrome 3 | 2 tests |
Pseudohypoaldosteronism type 1 | 1 test |
Pseudohypoaldosteronism type 2B | 1 test |
Pseudohypoaldosteronism type 2C | 1 test |
Pseudohypoaldosteronism type 2D | 1 test |
Pseudohypoaldosteronism type 2E | 1 test |
Psoriasis 13, susceptibility to | 1 test |
Psoriasis 2 | 1 test |
Pulmonary alveolar proteinosis with hypogammaglobulinemia | 1 test |
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 | 1 test |
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 | 2 tests |
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 | 1 test |
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 | 1 test |
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 6 | 1 test |
Pulmonary fibrosis, idiopathic, susceptibility to | 1 test |
Pulmonary hypertension, familial primary, 1, with or without HHT | 1 test |
Pure gonadal dysgenesis 46,XY | 1 test |
Pure mitochondrial myopathy | 1 test |
Purine-nucleoside phosphorylase deficiency | 1 test |
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome | 1 test |
Pyropoikilocytosis, hereditary | 2 tests |
Pyruvate kinase deficiency of red cells | 3 tests |
Qualitative or quantitative defects of dystrophin | 1 test |
RASopathy | 6 tests |
RIDDLE syndrome | 1 test |
Rasburicase response | 1 test |
Recombinase activating gene 2 deficiency | 2 tests |
Reducing body myopathy | 3 tests |
Renal carnitine transport defect | 4 tests |
Renal cysts and diabetes syndrome | 1 test |
Renal hypomagnesemia 2 | 1 test |
Renal hypomagnesemia 4 | 1 test |
Renal hypomagnesemia 5 with ocular involvement | 1 test |
Renal hypomagnesemia 6 | 1 test |
Renal tubular acidosis with progressive nerve deafness | 1 test |
Renal-hepatic-pancreatic dysplasia | 1 test |
Reticular dysgenesis | 2 tests |
Retinal dystrophy and microvillus inclusion disease | 1 test |
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations | 2 tests |
Retinitis pigmentosa and erythrocytic microcytosis | 3 tests |
Revesz syndrome | 1 test |
Rh-null, regulator type | 1 test |
Rhabdomyolysis | 1 test |
Rhizomelic chondrodysplasia punctata | 3 tests |
Ribavirin response | 1 test |
Rippling muscle disease | 2 tests |
Rosuvastatin response | 1 test |
SCID due to ADA deficiency, delayed onset | 1 test |
SHORT syndrome | 5 tests |
STAT3-related early-onset multisystem autoimmune disease | 4 tests |
STING-associated vasculopathy with onset in infancy | 1 test |
Sandhoff disease | 1 test |
Schimke immuno-osseous dysplasia | 2 tests |
Selective serotonin reuptake inhibitor response | 2 tests |
Sertraline response | 2 tests |
Severe combined immunodeficiency disease | 4 tests |
Severe combined immunodeficiency due to CARD11 deficiency | 7 tests |
Severe combined immunodeficiency due to CARMIL2 deficiency | 4 tests |
Severe combined immunodeficiency due to CD70 deficiency | 4 tests |
Severe combined immunodeficiency due to CORO1A deficiency | 3 tests |
Severe combined immunodeficiency due to CTPS1 deficiency | 3 tests |
Severe combined immunodeficiency due to DCLRE1C deficiency | 1 test |
Severe combined immunodeficiency due to LAT deficiency | 1 test |
Severe combined immunodeficiency with sensitivity to ionizing radiation due to NHEJ1 deficiency | 1 test |
Severe combined immunodeficiency, B cell-negative | 1 test |
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency | 3 tests |
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | 2 tests |
Severe congenital neutropenia | 4 tests |
Sex-linked hereditary disorder | 3 tests |
Short QT syndrome | 5 tests |
Shprintzen-Goldberg syndrome | 2 tests |
Shwachman syndrome | 1 test |
Shwachman-Diamond syndrome 1 | 1 test |
Shwachman-Diamond syndrome 2 | 1 test |
Sick sinus syndrome | 6 tests |
Silver-Russell syndrome 1 | 2 tests |
Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 | 1 test |
Simpson-Golabi-Behmel syndrome type 2 | 1 test |
Simvastatin response | 1 test |
Singleton-Merten syndrome 1 | 3 tests |
Singleton-Merten syndrome 2 | 1 test |
Sinus histiocytosis with massive lymphadenopathy | 1 test |
Sitosterolemia | 2 tests |
Smith-Lemli-Opitz syndrome | 2 tests |
Sneddon syndrome | 4 tests |
Solid tumor | 3 tests |
Southeast Asian ovalocytosis | 2 tests |
Spastic paraplegia | 1 test |
Specific granule deficiency 1 | 1 test |
Specific granule deficiency 2 | 1 test |
Sphingolipid activator protein 1 deficiency | 1 test |
Spinal muscular atrophy | 3 tests |
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome | 2 tests |
Spinocerebellar ataxia 49 | 1 test |
Spinocerebellar ataxia 7 | 1 test |
Spinocerebellar ataxia type 1 | 1 test |
Spinocerebellar ataxia type 2 | 1 test |
Spinocerebellar ataxia type 6 | 1 test |
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | 1 test |
Spondylo-ocular syndrome | 1 test |
Spondylodysplastic Ehlers-Danlos syndrome | 2 tests |
Spondyloenchondrodysplasia with immune dysregulation | 1 test |
Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures | 2 tests |
Stage IV Non-Small Cell Lung Cancer | 1 test |
Statin causing adverse effect in therapeutic use | 1 test |
Statin-induced myopathy | 1 test |
Sterile multifocal osteomyelitis with periostitis and pustulosis | 1 test |
Stiff skin syndrome | 4 tests |
Stormorken syndrome | 4 tests |
Stuve-Wiedemann syndrome 2 | 1 test |
Subcutaneous panniculitis-like T-cell lymphoma | 1 test |
Sucrase-isomaltase deficiency | 1 test |
Sudden unexplained death | 1 test |
Sulfite oxidase deficiency | 1 test |
Supravalvar aortic stenosis | 1 test |
Susceptibility to HIV infection | 2 tests |
Susceptibility to respiratory infections associated with CD8alpha chain mutation | 1 test |
Symmetrical dyschromatosis of extremities | 1 test |
Syndrome of entercolitis and autoinflmmation caused by mutation of NLRC4 (SCAN4) | 1 test |
Syndromic congenital sodium diarrhea | 1 test |
Syndromic intellectual disability | 1 test |
Syndromic multisystem autoimmune disease due to ITCH deficiency | 3 tests |
Systemic lupus erythematosus 17 | 2 tests |
Systemic lupus erythematosus, susceptibility to, 1 | 1 test |
Systemic mast cell disease | 1 test |
T-cell immunodeficiency, congenital alopecia, and nail dystrophy | 1 test |
T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant | 1 test |
TNF receptor-associated periodic fever syndrome (TRAPS) | 1 test |
Tacrolimus response | 1 test |
Tafenoquine response | 1 test |
Tamoxifen response | 1 test |
Tay-Sachs disease | 1 test |
Telomere syndrome | 1 test |
Terminal osseous dysplasia-pigmentary defects syndrome | 3 tests |
Tetralogy of Fallot | 1 test |
Tetraploidy syndrome | 1 test |
Thioguanine response | 1 test |
Thiopurine metabolic disease | 1 test |
Thiopurine methyltransferase deficiency | 1 test |
Thiopurine response | 1 test |
Thiopurines, poor metabolism of, 2 | 1 test |
Thrombocytopenia 1 | 2 tests |
Thrombocytopenia, X-linked, intermittent | 2 tests |
Thrombomodulin-related bleeding disorder | 1 test |
Thrombophilia | 1 test |
Thrombophilia due to protein C deficiency, autosomal dominant | 1 test |
Thrombophilia due to protein C deficiency, autosomal recessive | 1 test |
Thrombotic microangiopathy | 1 test |
Thyroid dyshormonogenesis 6 | 1 test |
Thyroid gland carcinoma | 1 test |
Tibial muscular dystrophy | 5 tests |
Tolbutamide response | 1 test |
Transient bullous dermolysis of the newborn | 1 test |
Transient infantile hypertriglyceridemia and hepatosteatosis | 1 test |
Trichohepatoenteric syndrome | 2 tests |
Trichohepatoenteric syndrome 1 | 1 test |
Trichohepatoenteric syndrome 2 | 2 tests |
Tricyclic antidepressant response | 2 tests |
Triosephosphate isomerase deficiency | 2 tests |
Triploidy | 1 test |
Trisomy | 1 test |
Trisomy 18 | 3 tests |
Trisomy X syndrome | 1 test |
Tropisetron response | 1 test |
Tuberous sclerosis 1 | 1 test |
Tuberous sclerosis 2 | 1 test |
Tuberous sclerosis syndrome | 2 tests |
Tumoral calcinosis, hyperphosphatemic, familial, 1 | 1 test |
Tumoral calcinosis, hyperphosphatemic, familial, 2 | 1 test |
Tumoral calcinosis, hyperphosphatemic, familial, 3 | 1 test |
Turner syndrome | 4 tests |
Twinning, monozygotic | 1 test |
Tyrosinemia | 1 test |
Tyrosinemia type I | 1 test |
Uniparental disomy of maternal origin | 1 test |
Uniparental disomy of paternal origin | 1 test |
Upshaw-Schulman syndrome | 1 test |
VACTERL association | 1 test |
Varicella, severe recurrent | 1 test |
Variegate porphyria | 6 tests |
Vasculitis due to ADA2 deficiency | 4 tests |
Velocardiofacial syndrome | 1 test |
Venous thromboembolism, susceptibility to | 1 test |
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome | 6 tests |
Ventricular fibrillation | 6 tests |
Ventriculomegaly-cystic kidney disease | 2 tests |
Very long chain acyl-CoA dehydrogenase deficiency | 6 tests |
Vitamin B12-responsive methylmalonic acidemia | 1 test |
Vitamin D hydroxylation-deficient rickets, type 1B | 1 test |
Vitamin D-dependent rickets, type 1 | 1 test |
Von Hippel-Lindau syndrome | 2 tests |
Voriconazole response | 1 test |
WHIM syndrome 1 | 1 test |
WHIM syndrome 2 | 1 test |
Warfarin response | 2 tests |
Warts, hypogammaglobulinemia, infections, and myelokathexis | 2 tests |
Weill-Marchesani syndrome | 3 tests |
Wiedemann-Steiner syndrome | 1 test |
Wilms tumor 1 | 1 test |
Wilson disease | 2 tests |
Wiskott-Aldrich syndrome | 5 tests |
Wiskott-Aldrich syndrome 2 | 3 tests |
Wolff-Parkinson-White pattern | 5 tests |
Wolman disease | 2 tests |
X-linked Alport syndrome | 1 test |
X-linked Emery-Dreifuss muscular dystrophy | 6 tests |
X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency | 1 test |
X-linked agammaglobulinemia | 3 tests |
X-linked agammaglobulinemia with growth hormone deficiency | 1 test |
X-linked cerebral adrenoleukodystrophy | 3 tests |
X-linked distal spinal muscular atrophy type 3 | 2 tests |
X-linked erythropoietic protoporphyria | 5 tests |
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia | 2 tests |
X-linked intellectual disability with marfanoid habitus | 2 tests |
X-linked intellectual disability, van Esch type | 2 tests |
X-linked lymphoproliferative disease due to SH2D1A deficiency | 7 tests |
X-linked lymphoproliferative disease due to XIAP deficiency | 7 tests |
X-linked lymphoproliferative syndrome | 6 tests |
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency | 1 test |
X-linked myopathy with postural muscle atrophy | 3 tests |
X-linked osteoporosis with fractures | 1 test |
X-linked reticulate pigmentary disorder | 2 tests |
X-linked severe combined immunodeficiency | 1 test |
X-linked severe congenital neutropenia | 5 tests |
X-linked spondyloepimetaphyseal dysplasia | 2 tests |
Xanthinuria type II | 1 test |
Xerocytosis | 1 test |
ZAP70-Related Severe Combined Immunodeficiency | 3 tests |
Zellweger spectrum disorders | 4 tests |
delta Thalassemia | 3 tests |
methadone response - Dosage | 1 test |