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OMIM (Johns Hopkins University School of Medicine)

General information

OMIM
Johns Hopkins University School of Medicine
Baltimore
Maryland
United States
http://www.omim.org/
Organization ID: 3

Assertion criteria

Level: Assertion criteria not provided

    Summary of submissions to ClinVar

    Total submissions: 34730

    Gene

    GeneSubmissionsLast Updated
    A2M5Jun 23, 2021
    A2ML14Jul 6, 2018
    A4GALT8Jul 17, 2019
    AAAS11Sep 23, 2021
    AAGAB6Nov 25, 2019
    AANAT1Jan 4, 2016
    AARS114Mar 2, 2022
    AARS27Jul 1, 2015
    AASS7Apr 21, 2020
    ABAT8Oct 18, 2017
    ABCA123Oct 30, 2019
    ABCA1213Apr 21, 2022
    ABCA24Mar 27, 2020
    ABCA37Aug 31, 2016
    ABCA450Jun 30, 2020
    ABCA51Jul 8, 2014
    ABCA72Apr 25, 2016
    ABCB13Jan 28, 2020
    ABCB119Nov 30, 2016
    ABCB418Dec 20, 2017
    ABCB615Dec 4, 2015
    ABCB73Mar 17, 2016
    ABCC11Jun 19, 2020
    ABCC114Feb 28, 2011
    ABCC29Sep 16, 2016
    ABCC633Jun 18, 2018
    ABCC832Dec 1, 2020
    ABCC912Jan 26, 2022
    ABCD126Feb 21, 2017
    ABCD33Oct 27, 2015
    ABCD44Dec 9, 2021
    ABCG210Apr 3, 2018
    ABCG510Jul 17, 2020
    ABCG813Jul 17, 2020
    ABHD127Oct 3, 2018
    ABHD14A-ACY17Jan 9, 2018
    ABHD16A6Feb 9, 2022
    ABHD58May 8, 2020
    ABL111Nov 11, 2021
    ABO5Nov 18, 2014
    ACAD85Jun 19, 2019
    ACAD98Dec 13, 2018
    ACADL1Apr 6, 2021
    ACADM16Aug 12, 2021
    ACADS16Oct 5, 2011
    ACADSB8Jun 11, 2020
    ACADVL12Oct 19, 2017
    ACAN15Feb 19, 2019
    ACAT116Oct 3, 2016
    ACBD52Apr 28, 2020
    ACBD64Apr 5, 2018
    ACD3Oct 14, 2021
    ACE12Mar 18, 2022
    ACER31Nov 10, 2017
    ACHE1Mar 31, 2011
    ACKR16Dec 11, 2017
    ACKR31Mar 4, 2021
    ACO220Oct 19, 2022
    ACOX19Aug 31, 2020
    ACOX22Feb 20, 2017
    ACP11Aug 12, 2020
    ACP45Aug 15, 2019
    ACP510Aug 25, 2017
    ACSF39Apr 25, 2016
    ACSL43Aug 21, 2021
    ACSM35Aug 10, 2022
    ACTA118Apr 2, 2021
    ACTA213Jul 14, 2021
    ACTA2-AS14Oct 26, 2017
    ACTB10Mar 8, 2018
    ACTC110Oct 6, 2016
    ACTG114Aug 5, 2016
    ACTG215Jul 15, 2021
    ACTL6B10Nov 25, 2020
    ACTL93Apr 1, 2021
    ACTN16Apr 24, 2013
    ACTN212Nov 11, 2019
    ACTN34May 14, 2021
    ACTN44Feb 8, 2017
    ACVR19Feb 27, 2019
    ACVR1B2Oct 24, 2008
    ACVR2B2Feb 23, 2011
    ACVRL122Feb 6, 2019
    ACY17Jan 9, 2018
    ADA31May 28, 2015
    ADA213Jun 16, 2021
    ADAM107Feb 28, 2017
    ADAM171Feb 22, 2019
    ADAM223Feb 22, 2021
    ADAM95Apr 22, 2015
    ADAMTS107May 22, 2015
    ADAMTS1324Nov 17, 2021
    ADAMTS175Feb 16, 2018
    ADAMTS185Oct 19, 2016
    ADAMTS194Sep 30, 2022
    ADAMTS23Dec 21, 2017
    ADAMTS33May 10, 2019
    ADAMTSL28Mar 27, 2019
    ADAMTSL49Jan 3, 2018
    ADAMTSL4-AS26Jan 3, 2018
    ADAR17Oct 14, 2019
    ADARB15Apr 30, 2020
    ADAT32Sep 10, 2021
    ADCY11Jul 9, 2014
    ADCY102Dec 20, 2016
    ADCY35Mar 28, 2018
    ADCY511Jun 4, 2022
    ADCY64Jan 26, 2021
    ADD11Aug 31, 2012
    ADD31Jul 23, 2019
    ADGRE21Jun 24, 2016
    ADGRG19Aug 31, 2016
    ADGRG23Sep 30, 2016
    ADGRG63Aug 31, 2016
    ADGRL15Oct 7, 2022
    ADGRL1-AS14Oct 7, 2022
    ADGRV110Sep 7, 2021
    ADH1B3Jun 4, 2018
    ADH1C3Aug 5, 2016
    ADH53Jan 21, 2021
    ADIPOQ1May 6, 2013
    ADIPOQ-AS11May 6, 2013
    ADIPOR11Oct 3, 2016
    ADK4Oct 11, 2016
    ADNP8Feb 24, 2021
    ADNP-AS13Apr 4, 2017
    ADORA11Feb 22, 2017
    ADPRS8Jan 9, 2019
    ADRA2B1Nov 14, 2019
    ADRA2C1Feb 24, 2009
    ADRB13Oct 23, 2020
    ADRB24May 3, 2019
    ADRB31Aug 19, 2009
    ADSL8Dec 11, 2017
    ADSS14Nov 6, 2020
    AEBP15Mar 8, 2022
    AFF22Apr 14, 2021
    AFF36May 11, 2021
    AFF43Sep 1, 2021
    AFG3L220Aug 14, 2020
    AFP4Jan 3, 2018
    AGA11Nov 7, 2018
    AGA-DT2Jul 7, 2015
    AGBL12Nov 13, 2013
    AGBL52Sep 6, 2017
    AGK10Oct 5, 2016
    AGL16Sep 18, 2020
    AGO26Jan 20, 2021
    AGPAT29Nov 26, 2014
    AGPS4Jan 17, 2018
    AGRN3Oct 27, 2020
    AGRP2Aug 30, 2019
    AGT8Jun 11, 2019
    AGTPBP18Jan 14, 2019
    AGTR15Jun 8, 2021
    AGTR25Mar 9, 2018
    AGXT14Aug 20, 2018
    AGXT21Jun 1, 2017
    AHCY3Jul 26, 2018
    AHDC15Dec 8, 2020
    AHI111Oct 4, 2016
    AHR1Jun 23, 2020
    AHSG5Feb 15, 2022
    AICDA9Aug 10, 2015
    AIFM117Dec 10, 2019
    AIMP12May 31, 2018
    AIMP21Jun 5, 2018
    AIP10Sep 14, 2020
    AIPL15May 13, 2020
    AIRE13Jul 5, 2022
    AK17May 14, 2015
    AK213Mar 27, 2019
    AK72Aug 29, 2018
    AKAP101Mar 10, 2022
    AKAP91May 2, 2017
    AKR1C24Aug 3, 2015
    AKR1C41Jan 6, 2014
    AKR1D15Apr 10, 2015
    AKT16Oct 10, 2014
    AKT22Nov 14, 2011
    AKT33Jun 10, 2021
    ALAD8Aug 3, 2015
    ALAS220Dec 11, 2017
    ALB61Jun 3, 2021
    ALDH18A116Jan 11, 2016
    ALDH1A24Sep 1, 2022
    ALDH1A33Mar 7, 2013
    ALDH1A3-AS12Mar 7, 2013
    ALDH26Feb 12, 2021
    ALDH3A29Jun 16, 2017
    ALDH4A13Mar 11, 2015
    ALDH5A17Dec 23, 2021
    ALDH6A16May 28, 2020
    ALDH7A19Dec 22, 2017
    ALDH9A11Jun 18, 2012
    ALDOA2May 1, 2014
    ALDOB15Apr 29, 2020
    ALG17Apr 16, 2019
    ALG101Nov 28, 2011
    ALG1110Aug 14, 2020
    ALG129May 21, 2020
    ALG137Aug 26, 2022
    ALG146Oct 5, 2020
    ALG14-AS12Oct 5, 2020
    ALG25Apr 6, 2022
    ALG35Mar 27, 2017
    ALG54Oct 4, 2022
    ALG66Jan 2, 2020
    ALG811Mar 2, 2022
    ALG95Oct 3, 2022
    ALK4Jan 27, 2017
    ALKBH83Oct 13, 2022
    ALMS18Nov 1, 2019
    ALOX12B13Jun 10, 2019
    ALOX151Mar 26, 2019
    ALOX52May 3, 2019
    ALOXE38May 5, 2015
    ALPK11Feb 7, 2022
    ALPK34Jul 12, 2018
    ALPL33Apr 14, 2015
    ALPP2Sep 14, 2012
    ALS216Feb 21, 2020
    ALX12Mar 16, 2020
    ALX37May 11, 2018
    ALX414Aug 3, 2020
    AMACR3Jan 24, 2017
    AMBN2Nov 22, 2016
    AMD14Oct 18, 2022
    AMELX13Jan 18, 2022
    AMER18Mar 11, 2021
    AMH4Nov 12, 2013
    AMHR24Jul 16, 2010
    AMMECR13Apr 29, 2022
    AMN7May 19, 2020
    AMPD13May 4, 2015
    AMPD27May 13, 2019
    AMPD31Jun 23, 2009
    AMT9Jul 18, 2017
    AMTN1Aug 5, 2017
    ANAPC13Oct 17, 2019
    ANAPC71Jan 14, 2022
    ANG10Mar 18, 2019
    ANGPT12Jun 9, 2021
    ANGPT23Jun 3, 2021
    ANGPTL37Jul 2, 2018
    ANGPTL42Oct 18, 2016
    ANK19Aug 19, 2021
    ANK26Sep 2, 2016
    ANK34Apr 8, 2022
    ANKH13Sep 12, 2019
    ANKK11May 24, 2018
    ANKLE23Jun 25, 2019
    ANKRD115Nov 29, 2022
    ANKRD175Sep 13, 2021
    ANKRD263Oct 26, 2015
    ANKRD34C-AS11Dec 18, 2019
    ANKS31Jan 26, 2017
    ANKS65Jun 2, 2017
    ANLN2May 11, 2017
    ANO11Sep 19, 2022
    ANO109Jan 4, 2022
    ANO34Aug 7, 2017
    ANO512Sep 27, 2018
    ANO61May 7, 2016
    ANOS114Dec 23, 2019
    ANTXR17Dec 14, 2018
    ANTXR28Nov 6, 2014
    ANXA114Feb 15, 2022
    ANXA51Dec 13, 2011
    AOPEP10Jan 28, 2022
    AP1B110Aug 8, 2022
    AP1G15Oct 4, 2021
    AP1S12Jul 10, 2020
    AP1S26Apr 10, 2015
    AP1S32Dec 16, 2020
    AP2M11Dec 11, 2020
    AP2S13Oct 14, 2021
    AP3B18Sep 30, 2019
    AP3B26Nov 19, 2020
    AP3D11Jul 27, 2016
    AP4B14Nov 6, 2015
    AP4B1-AS18Nov 6, 2015
    AP4E15Oct 6, 2021
    AP4M13Jul 29, 2021
    AP4S13Jun 21, 2018
    AP5Z16Jan 26, 2017
    APBB12Jun 24, 2021
    APC61Feb 23, 2021
    APC27Feb 2, 2022
    APCDD11Feb 25, 2021
    APOA128Jul 29, 2021
    APOA1-AS16Jul 29, 2021
    APOA22Jun 6, 2019
    APOA44Jul 16, 2012
    APOA54Jun 1, 2021
    APOB22Jun 20, 2019
    APOC220Jul 8, 2008
    APOC36Jan 25, 2018
    APOC4-APOC220Jul 8, 2008
    APOE35Jun 27, 2022
    APOH1Jun 24, 2011
    APOL12Oct 25, 2010
    APOO1May 3, 2021
    APP23Dec 11, 2019
    APPL12Aug 10, 2015
    APRT9Aug 3, 2015
    APTX9Nov 6, 2012
    AQP12Feb 5, 2018
    AQP218Jun 24, 2021
    AQP31Jan 7, 2010
    AQP55Feb 4, 2021
    AQP5-AS115Jun 24, 2021
    AQP72Jan 21, 2022
    AR58Nov 1, 2019
    ARCN17Sep 6, 2022
    AREL12Aug 16, 2019
    ARF13Nov 13, 2018
    ARFGEF17Jul 21, 2022
    ARFGEF1-DT2Mar 10, 2017
    ARFGEF23Dec 2, 2016
    ARG112Jul 1, 2019
    ARHGAP241Mar 14, 2016
    ARHGAP263May 19, 2011
    ARHGAP291Oct 23, 2015
    ARHGAP312Sep 20, 2013
    ARHGAP612Jan 18, 2022
    ARHGAP92Jan 4, 2022
    ARHGDIA3Mar 10, 2015
    ARHGEF12Jun 6, 2019
    ARHGEF102Aug 15, 2019
    ARHGEF151Feb 26, 2014
    ARHGEF185Apr 7, 2017
    ARHGEF21Jun 15, 2017
    ARHGEF61May 16, 2018
    ARHGEF92Oct 6, 2020
    ARID1A6Mar 9, 2017
    ARID1B12May 9, 2019
    ARID27Dec 14, 2017
    ARL13B4Nov 6, 2017
    ARL14EP-DT4Aug 4, 2016
    ARL21Oct 13, 2021
    ARL2-SNX151Oct 13, 2021
    ARL2BP3Aug 8, 2018
    ARL33Apr 29, 2019
    ARL68Sep 4, 2020
    ARL6IP11Dec 3, 2020
    ARL6IP61Aug 29, 2018
    ARMC25May 15, 2019
    ARMC2-AS11May 15, 2019
    ARMC58Jun 30, 2022
    ARMC99Nov 20, 2017
    ARMCX5-GPRASP21Nov 15, 2018
    ARMS22Oct 22, 2013
    ARNT21Jan 17, 2020
    ARPC1B9Aug 4, 2020
    ARPC41Nov 29, 2022
    ARPC4-TTLL31Nov 29, 2022
    ARR34Jul 19, 2022
    ARSA50Nov 7, 2018
    ARSB12Oct 6, 2016
    ARSG6Aug 3, 2021
    ARSI1Jan 7, 2022
    ARSK2Jan 10, 2022
    ARSL8Aug 22, 2014
    ART45Oct 23, 2014
    ARV13Oct 23, 2020
    ARX27Aug 23, 2021
    ASAH116Sep 2, 2022
    ASB104Jun 11, 2013
    ASCC16Feb 20, 2020
    ASCL13Aug 18, 2021
    ASH1L7Dec 5, 2017
    ASIC4-AS18Feb 18, 2022
    ASIP1Jul 26, 2018
    ASL7Nov 22, 2021
    ASNS8May 26, 2020
    ASPA12Dec 3, 2019
    ASPH5Jul 20, 2022
    ASPM11Sep 8, 2018
    ASPN2Nov 13, 2008
    ASPRV13Aug 26, 2020
    ASS119Oct 17, 2016
    ASTL1Jan 18, 2022
    ASTN26Mar 10, 2022
    ASXL18Aug 16, 2022
    ASXL26Jan 25, 2018
    ASXL38Jan 8, 2020
    ATAD13Mar 17, 2020
    ATAD3A5Mar 8, 2022
    ATCAY2Nov 3, 2021
    ATF66Aug 13, 2015
    ATG16L11Aug 25, 2016
    ATG51Dec 30, 2019
    ATG77Jul 12, 2021
    ATIC4Sep 24, 2020
    ATL115Nov 6, 2014
    ATL32Jul 8, 2020
    ATM34Aug 27, 2020
    ATN16Oct 31, 2019
    ATOH74Apr 18, 2016
    ATP11A3Apr 26, 2022
    ATP11C1Apr 12, 2022
    ATP13A213Feb 1, 2017
    ATP13A35May 25, 2022
    ATP1A18Feb 4, 2019
    ATP1A1-AS15Feb 4, 2019
    ATP1A224Nov 10, 2021
    ATP1A324Nov 10, 2021
    ATP2A110Jan 26, 2022
    ATP2A1-AS13Jan 26, 2022
    ATP2A213Mar 5, 2014
    ATP2B15Jun 16, 2022
    ATP2B25Mar 25, 2022
    ATP2B31Feb 12, 2014
    ATP2C19Jun 4, 2022
    ATP5F1A2Jul 17, 2020
    ATP5F1B1Nov 10, 2022
    ATP5F1D2Sep 17, 2018
    ATP5F1E1Sep 14, 2018
    ATP5MC31Jan 5, 2022
    ATP5MK1Dec 2, 2019
    ATP6AP18Jul 27, 2020
    ATP6AP26Mar 8, 2022
    ATP6V0A110Jul 26, 2022
    ATP6V0A25Apr 29, 2017
    ATP6V0A411Aug 28, 2020
    ATP6V0D1-DT2Aug 30, 2019
    ATP6V1A8Nov 3, 2022
    ATP6V1B16Feb 12, 2021
    ATP6V1B22Aug 24, 2017
    ATP6V1E12Mar 22, 2019
    ATP7A16Nov 3, 2020
    ATP7B23Mar 26, 2020
    ATP8A21Mar 31, 2022
    ATP8B114Oct 29, 2016
    ATP8B1-AS14Oct 29, 2016
    ATPAF21Aug 17, 2017
    ATR5Feb 21, 2020
    ATRIP13Jan 25, 2021
    ATRIP-TREX113Jan 25, 2021
    ATRX24Mar 5, 2021
    ATXN11Oct 31, 2019
    ATXN101Oct 31, 2019
    ATXN23Oct 31, 2019
    ATXN32Nov 1, 2019
    ATXN71Nov 7, 2019
    ATXN7L3-AS11Aug 31, 2018
    ATXN83Jun 7, 2012
    ATXN8OS3Jun 7, 2012
    AUH9Nov 16, 2021
    AURKA1Jan 4, 2011
    AURKC3Jan 17, 2020
    AUTS24Apr 6, 2022
    AVIL4Sep 25, 2019
    AVP19Jun 22, 2021
    AVPR223Jun 23, 2021
    AXDND13Mar 4, 2022
    AXIN12Feb 17, 2017
    AXIN24Mar 3, 2015
    B2M3Aug 5, 2016
    B3GALNT14Feb 7, 2013
    B3GALNT27Apr 21, 2022
    B3GALT620Mar 17, 2021
    B3GAT35Oct 19, 2020
    B3GLCT5Jul 6, 2021
    B4GALNT15Sep 9, 2013
    B4GALNT24Dec 15, 2021
    B4GALT13Mar 2, 2021
    B4GALT1-AS11Mar 2, 2021
    B4GALT77Dec 22, 2017
    B4GAT12Jan 16, 2018
    B9D15Sep 23, 2016
    B9D25May 13, 2022
    BAAT5Dec 14, 2021
    BACH22Oct 27, 2021
    BAG310Dec 21, 2017
    BAG53Feb 10, 2022
    BANF11Jun 28, 2018
    BANK11Sep 30, 2016
    BAP116Aug 4, 2022
    BARD11Jun 18, 2009
    BAX4Dec 6, 2013
    BBIP11Aug 4, 2016
    BBOF16May 28, 2020
    BBS17Dec 16, 2014
    BBS108Apr 3, 2018
    BBS125Dec 1, 2017
    BBS222Apr 25, 2017
    BBS44May 18, 2020
    BBS56Aug 25, 2017
    BBS74Oct 16, 2014
    BBS98Jun 20, 2017
    BCAM6Aug 28, 2018
    BCAP313Jan 10, 2019
    BCAS35Dec 2, 2021
    BCAT22Apr 20, 2020
    BCHE16Apr 24, 2018
    BCKDHA10Oct 20, 2016
    BCKDHB6Apr 29, 2015
    BCKDK3Nov 8, 2012
    BCL1019Sep 26, 2016
    BCL11A6Sep 8, 2016
    BCL11B6Feb 4, 2019
    BCL2L2-PABPN12Nov 7, 2019
    BCO11Jan 5, 2018
    BCOR12Apr 27, 2021
    BCORL14Jul 25, 2019
    BCS1L14Nov 2, 2020
    BDNF3Aug 18, 2021
    BDNF-AS2Aug 18, 2021
    BDNF-AS12Aug 18, 2021
    BDP11Jul 30, 2019
    BEAN11Nov 1, 2019
    BEST127Nov 3, 2020
    BFSP13May 9, 2017
    BFSP22May 28, 2013
    BFSP2-AS12May 28, 2013
    BGN6May 10, 2017
    BHLHA94Jan 11, 2022
    BHLHE412Mar 17, 2020
    BICC12Sep 7, 2012
    BICD29Jan 30, 2019
    BICRA5May 20, 2021
    BIN16Feb 8, 2019
    BIVM-ERCC516Mar 19, 2020
    BLK5Feb 14, 2020
    BLM4Sep 30, 2016
    BLMH1Nov 23, 2009
    BLNK1May 1, 2013
    BLOC1S1-RDH58Sep 19, 2016
    BLOC1S32Aug 2, 2017
    BLOC1S52Jan 29, 2021
    BLOC1S5-TXNDC51Jan 29, 2021
    BLOC1S61Aug 2, 2017
    BLTP16Jan 11, 2018
    BLVRA2Jul 16, 2019
    BMP16Sep 13, 2016
    BMP155Apr 11, 2022
    BMP26Feb 15, 2021
    BMP410Jul 6, 2018
    BMP66Nov 28, 2022
    BMPER6Nov 26, 2019
    BMPR1A9Dec 12, 2017
    BMPR1B9Apr 6, 2022
    BMPR230Mar 20, 2018
    BMS11Sep 12, 2019
    BNAT11Jul 12, 2019
    BNC11Mar 3, 2020
    BNC22Oct 4, 2019
    BOLA34Mar 9, 2020
    BPGM4Jul 17, 2020
    BPNT24Jan 20, 2015
    BPTF6Jun 8, 2022
    BRAF33Mar 17, 2022
    BRAT113Aug 2, 2018
    BRCA149Oct 6, 2021
    BRCA238Jan 14, 2020
    BRDT1Aug 28, 2017
    BRF14Jan 23, 2015
    BRIP14Apr 19, 2019
    BRPF110Jul 19, 2017
    BRWD35Mar 29, 2022
    BSCL222Dec 17, 2020
    BSG1Jan 18, 2012
    BSND10Mar 3, 2021
    BTBD101May 17, 2018
    BTD13Aug 6, 2020
    BTG21Sep 16, 2020
    BTG45Dec 7, 2022
    BTK56Oct 30, 2018
    BTNL21Aug 29, 2017
    BUB16Dec 25, 2022
    BUB1B23Sep 13, 2019
    BUB1B-PAK64Sep 13, 2019
    BVES6Aug 25, 2022
    BVES-AS13Apr 21, 2020
    BYSL1Feb 24, 2015
    C10orf1055Sep 26, 2017
    C10orf551Sep 12, 2011
    C11orf6521Aug 27, 2020
    C11orf802May 15, 2019
    C12orf43Dec 23, 2021
    C12orf432Aug 18, 2022
    C12orf578Aug 16, 2021
    C12orf606Mar 19, 2021
    C14orf397Feb 23, 2021
    C16orf921Sep 16, 2021
    C17orf10716Nov 7, 2018
    C19orf1213Mar 8, 2022
    C1GALT1C15Feb 5, 2013
    C1QA2Sep 28, 2017
    C1QB3Sep 28, 2017
    C1QBP6Aug 16, 2018
    C1QC4Oct 18, 2017
    C1QTNF3-AMACR3Jan 24, 2017
    C1QTNF513Aug 11, 2016
    C1R7Oct 29, 2016
    C1S4Oct 29, 2016
    C1orf1053Dec 21, 2017
    C1orf1221Nov 10, 2021
    C1orf1271Jan 26, 2022
    C210Oct 30, 2017
    C2-AS11Oct 28, 2013
    C2CD35Apr 5, 2019
    C2CD61Mar 21, 2022
    C2orf697Jul 9, 2021
    C2orf881Aug 26, 2021
    C311Aug 12, 2020
    C3orf523Dec 21, 2022
    C3orf801Oct 5, 2016
    C4A1Apr 13, 2012
    C4orf472Sep 7, 2022
    C57Sep 15, 2016
    C5orf461Jan 31, 2013
    C67Apr 30, 2022
    C6orf895Apr 30, 2021
    C711Feb 11, 2020
    C8A3Oct 11, 2021
    C8B7Oct 11, 2021
    C97May 21, 2015
    C9orf721Oct 31, 2019
    CA12Dec 1, 2009
    CA124Aug 27, 2018
    CA28Apr 8, 2021
    CA43Feb 3, 2021
    CA5A4Sep 25, 2018
    CA82May 30, 2019
    CABP21Oct 26, 2012
    CABP44May 22, 2015
    CACNA1A42Nov 19, 2020
    CACNA1B5Jan 21, 2020
    CACNA1C20Oct 6, 2022
    CACNA1D3Oct 14, 2013
    CACNA1E6Aug 31, 2022
    CACNA1F10Oct 28, 2015
    CACNA1G3Aug 14, 2018
    CACNA1H7Jul 12, 2016
    CACNA1I4Nov 8, 2022
    CACNA1S9Apr 21, 2021
    CACNA2D13Dec 7, 2022
    CACNA2D25Jul 22, 2019
    CACNA2D43Jan 27, 2017
    CACNB22Sep 30, 2014
    CACNB43Sep 9, 2016
    CACNG21Apr 1, 2022
    CACNG2-DT2Jul 16, 2021
    CAD5Nov 11, 2020
    CADM31Sep 16, 2021
    CALCA1Sep 25, 2012
    CALCR1Jan 29, 2009
    CALCRL1Mar 4, 2021
    CALCRL-AS11Mar 4, 2021
    CALM15Feb 24, 2020
    CALM27Feb 21, 2020
    CALM33Feb 26, 2020
    CALR2Apr 24, 2014
    CALR31Nov 20, 2018
    CAMK2A9Apr 11, 2022
    CAMK2B7Aug 28, 2018
    CAMK2G2Oct 6, 2020
    CAMK41Jan 24, 2019
    CAMTA19Feb 24, 2022
    CAMTA21Aug 8, 2022
    CAMTA2-AS11Aug 8, 2022
    CANT118Oct 19, 2020
    CAPN14May 9, 2016
    CAPN105Sep 3, 2020
    CAPN156May 7, 2021
    CAPN312Sep 26, 2018
    CAPN52Nov 25, 2019
    CAPZA21Nov 18, 2021
    CARD101Nov 29, 2021
    CARD1110Aug 22, 2017
    CARD149Apr 6, 2017
    CARD81Nov 9, 2020
    CARD99Jul 27, 2022
    CARMIL28Oct 1, 2018
    CARS15Aug 12, 2021
    CARS25Mar 17, 2022
    CARTPT1Jun 8, 2018
    CASD112Sep 6, 2018
    CASK13Nov 11, 2022
    CASP107Dec 2, 2016
    CASP121May 4, 2010
    CASP141Jan 27, 2017
    CASP84Mar 23, 2022
    CASQ11Oct 26, 2016
    CASQ23Aug 4, 2016
    CASR58Sep 24, 2019
    CAST3Aug 10, 2018
    CASTOR37Dec 23, 2021
    CAT3Mar 14, 2013
    CATIP1Jun 16, 2021
    CATIP-AS21Jun 16, 2021
    CATSPER12Aug 10, 2016
    CATSPERE1Jul 24, 2019
    CAV16Apr 4, 2022
    CAV326Sep 27, 2018
    CAVIN18Sep 22, 2017
    CBFB5Oct 24, 2022
    CBL11Oct 6, 2020
    CBLIF7Apr 20, 2010
    CBS20Jul 19, 2017
    CBX22May 16, 2017
    CC2D1A1Apr 5, 2022
    CC2D2A14Apr 19, 2022
    CCBE16Sep 23, 2014
    CCDC1032Apr 27, 2017
    CCDC1072Jun 17, 2019
    CCDC1152Jun 21, 2019
    CCDC1341Mar 15, 2022
    CCDC1741Feb 18, 2016
    CCDC1862Jun 1, 2021
    CCDC222Aug 11, 2020
    CCDC261Oct 20, 2022
    CCDC28B1Oct 27, 2014
    CCDC303Nov 15, 2018
    CCDC323Jun 1, 2022
    CCDC342Oct 17, 2022
    CCDC394Jul 27, 2017
    CCDC404Sep 11, 2013
    CCDC474Jan 10, 2019
    CCDC501Jan 8, 2018
    CCDC621Mar 21, 2022
    CCDC651Nov 27, 2018
    CCDC781Aug 29, 2017
    CCDC83Jul 6, 2021
    CCDC823May 25, 2022
    CCDC88A1Jun 1, 2017
    CCDC88C5Mar 20, 2019
    CCIN1Mar 24, 2022
    CCKAR2Jun 23, 2006
    CCL112Nov 13, 2012
    CCL26Jun 22, 2017
    CCL52Nov 9, 2016
    CCM210Mar 10, 2021
    CCN611Oct 8, 2020
    CCNA21Apr 7, 2022
    CCND13Apr 12, 2018
    CCND26Sep 3, 2020
    CCNF4Jan 6, 2021
    CCNH7Nov 21, 2018
    CCNK1Oct 16, 2018
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    ELF43Apr 8, 2022
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    ELMOD32Aug 24, 2021
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    ELOVL47May 25, 2018
    ELOVL52May 24, 2017
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    ELP42Oct 4, 2016
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    ENTPD59Jan 4, 2021
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    HRURF5Mar 31, 2021
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    TNFRSF10B1Apr 29, 2009
    TNFRSF11A9Sep 5, 2018
    TNFRSF11B7Apr 21, 2017
    TNFRSF13B9Nov 17, 2011
    TNFRSF13C1Aug 3, 2010
    TNFRSF1A13Feb 21, 2020
    TNFRSF211May 20, 2020
    TNFRSF41Jun 3, 2016
    TNFSF113Oct 8, 2019
    TNFSF121Aug 28, 2018
    TNFSF12-TNFSF131Aug 28, 2018
    TNIK1Dec 2, 2021
    TNK21Nov 25, 2013
    TNNC16Dec 4, 2012
    TNNC22Dec 22, 2022
    TNNI24Nov 1, 2019
    TNNI317Aug 17, 2018
    TNNI3K4Apr 23, 2019
    TNNT11Feb 20, 2014
    TNNT214Sep 9, 2013
    TNNT32May 17, 2019
    TNPO25Oct 11, 2021
    TNPO32Sep 27, 2018
    TNR4Dec 17, 2021
    TNRC6A1Aug 3, 2018
    TNRC6B6Mar 26, 2021
    TNXB11May 30, 2018
    TOE16May 6, 2021
    TOGARAM17Aug 16, 2021
    TOM11Sep 2, 2021
    TOMM702Nov 25, 2020
    TOMT5Jun 2, 2015
    TONSL11Jul 24, 2019
    TONSL-AS15Jul 24, 2019
    TOP12Aug 15, 2011
    TOP2A1Jul 1, 2013
    TOP2B4Nov 4, 2021
    TOP3A5Sep 6, 2018
    TOPORS2Sep 8, 2016
    TOR1A8Nov 11, 2020
    TOR1AIP12Sep 26, 2018
    TOR1AIP21Sep 26, 2018
    TP5348Aug 11, 2021
    TP53BP11May 1, 2015
    TP53RK4Oct 27, 2017
    TP6333Apr 30, 2020
    TP735Aug 6, 2021
    TPCN22May 18, 2012
    TPD522Jul 28, 2020
    TPD52-MRPS282Jul 28, 2020
    TPH23May 10, 2011
    TPI18Feb 22, 2022
    TPK18Jul 13, 2022
    TPM19Jan 15, 2019
    TPM211May 17, 2019
    TPM314Jun 2, 2016
    TPMT7May 15, 2019
    TPO15Oct 10, 2016
    TPP112May 4, 2016
    TPP25May 25, 2021
    TPR1Sep 28, 2016
    TPRKB2Oct 27, 2017
    TPRN5Aug 30, 2013
    TRA1Nov 19, 2021
    TRAC1Nov 19, 2021
    TRAF31Mar 14, 2018
    TRAF3IP16Sep 6, 2016
    TRAF3IP22Mar 10, 2015
    TRAF3IP2-AS12Mar 10, 2015
    TRAF74Oct 31, 2018
    TRAIP2May 22, 2019
    TRAK14Nov 24, 2020
    TRAPPC102Sep 7, 2022
    TRAPPC114Sep 25, 2018
    TRAPPC123Sep 18, 2017
    TRAPPC12-AS11Sep 18, 2017
    TRAPPC141Mar 12, 2019
    TRAPPC211Apr 25, 2014
    TRAPPC2L1Feb 22, 2019
    TRAPPC41Feb 19, 2020
    TRAPPC6A1Jan 17, 2020
    TRAPPC6B2Mar 26, 2018
    TRAPPC94Apr 8, 2022
    TRB11Jan 14, 2021
    TRDN7Sep 16, 2021
    TREH1Jan 24, 2018
    TREM27Sep 17, 2020
    TREX112Jan 25, 2021
    TRHR4Sep 6, 2019
    TRIM148Jun 20, 2017
    TRIM23Sep 26, 2019
    TRIM326Mar 10, 2022
    TRIM361Jul 22, 2021
    TRIM378May 17, 2021
    TRIM441Oct 3, 2016
    TRIM59-IFT806Nov 9, 2020
    TRIM712Nov 22, 2019
    TRIM88Aug 4, 2021
    TRIO13Mar 31, 2020
    TRIOBP8Nov 27, 2017
    TRIP1115Aug 6, 2021
    TRIP127Apr 15, 2020
    TRIP137Sep 8, 2020
    TRIP43Aug 10, 2016
    TRIT16Feb 19, 2018
    TRMT13Jan 31, 2019
    TRMT10A2Sep 10, 2019
    TRMT10C2Sep 10, 2019
    TRMT441Sep 11, 2019
    TRMT54Jun 1, 2022
    TRMU7Aug 23, 2017
    TRNT112Apr 5, 2022
    TROAP-AS12Sep 11, 2009
    TRPA11Feb 28, 2022
    TRPC31Jun 5, 2015
    TRPC66Jan 29, 2010
    TRPM110Apr 29, 2015
    TRPM32Sep 30, 2021
    TRPM48Aug 12, 2019
    TRPM612Apr 20, 2017
    TRPM72May 8, 2017
    TRPS112Sep 19, 2019
    TRPV35Feb 25, 2021
    TRPV448Jan 31, 2022
    TRPV66Nov 14, 2018
    TRRAP6Feb 18, 2020
    TSBP1-AS11Aug 29, 2017
    TSC111Apr 11, 2017
    TSC219Jul 29, 2019
    TSC22D4-C7ORF611Mar 24, 2022
    TSEN153Sep 26, 2016
    TSEN24Aug 16, 2019
    TSEN341Feb 10, 2015
    TSEN548Aug 16, 2019
    TSFM5Sep 25, 2019
    TSG1011Aug 16, 2018
    TSGA101May 4, 2018
    TSHB5Jan 31, 2022
    TSHR34Aug 24, 2021
    TSHZ12Feb 16, 2015
    TSNAX-DISC11Oct 3, 2016
    TSPAN119Aug 19, 2020
    TSPAN1211Oct 21, 2016
    TSPAN73Aug 20, 2021
    TSPEAR17Dec 20, 2022
    TSPEAR-AS14Dec 20, 2022
    TSPYL12Oct 21, 2021
    TSR21Sep 25, 2019
    TSTD32Jul 24, 2019
    TTBK22May 30, 2012
    TTC124Mar 5, 2020
    TTC141Jul 27, 2017
    TTC196May 5, 2015
    TTC21A5May 14, 2019
    TTC21B8Jun 18, 2018
    TTC21B-AS12Jun 18, 2018
    TTC263Oct 4, 2021
    TTC296Jan 24, 2020
    TTC56Apr 1, 2021
    TTC7A18Jul 1, 2022
    TTC86Jun 2, 2016
    TTI22Jan 20, 2022
    TTLL55Mar 16, 2020
    TTN20Jun 11, 2019
    TTN-AS110Apr 17, 2019
    TTPA7Mar 24, 2017
    TTR51Aug 16, 2019
    TUB1Sep 24, 2019
    TUBA1A9Oct 14, 2021
    TUBA3D2May 8, 2018
    TUBA4A7Apr 26, 2022
    TUBA85Apr 26, 2022
    TUBB5Sep 8, 2020
    TUBB11Feb 28, 2013
    TUBB2A3Sep 23, 2021
    TUBB2B8Jun 21, 2016
    TUBB310Sep 22, 2016
    TUBB4A8Jun 22, 2015
    TUBB4B2Feb 16, 2018
    TUBB61Oct 25, 2017
    TUBB87Mar 2, 2017
    TUBG13Jun 29, 2018
    TUBGCP24Jan 17, 2020
    TUBGCP44May 1, 2015
    TUBGCP66Jul 1, 2016
    TUFM3Dec 5, 2016
    TULP114Jul 19, 2021
    TULP36May 27, 2022
    TUSC33Apr 11, 2022
    TWIST116Oct 26, 2017
    TWIST27Nov 15, 2019
    TWNK19Mar 27, 2017
    TXN21Feb 19, 2016
    TXNDC156May 13, 2022
    TXNL4A8Aug 3, 2022
    TXNL4B3Sep 26, 2019
    TXNRD21Dec 22, 2017
    TYK212Sep 19, 2022
    TYMP21Oct 23, 2020
    TYMS4Sep 22, 2022
    TYR41Feb 3, 2020
    TYROBP3Nov 16, 2018
    TYRP18Aug 19, 2015
    UBA18Oct 4, 2021
    UBA28Jul 14, 2022
    UBA513Nov 19, 2020
    UBAP18Sep 10, 2019
    UBE2A3Aug 20, 2021
    UBE2T2Jun 26, 2015
    UBE3A10Mar 15, 2018
    UBE3B8Jun 3, 2022
    UBE4A4Dec 1, 2021
    UBIAD110Oct 17, 2017
    UBQLN12May 15, 2018
    UBQLN26Feb 4, 2015
    UBR15Aug 18, 2015
    UBR41Oct 11, 2016
    UBR76Feb 19, 2021
    UBTF1Aug 31, 2018
    UCHL15Mar 26, 2020
    UCP11Sep 28, 2016
    UCP21Nov 11, 2015
    UCP36Sep 21, 2016
    UFC12Aug 6, 2018
    UFM12Aug 7, 2018
    UFSP24Sep 7, 2022
    UGDH7Oct 7, 2020
    UGP21Oct 21, 2020
    UGT1A32Jan 3, 2018
    UGT1A133Jan 3, 2018
    UGT1A1032Jan 3, 2018
    UGT1A332Jan 3, 2018
    UGT1A432Jan 3, 2018
    UGT1A532Jan 3, 2018
    UGT1A632Jan 3, 2018
    UGT1A732Jan 3, 2018
    UGT1A832Jan 3, 2018
    UGT1A932Jan 3, 2018
    UGT2B171Dec 16, 2011
    UMOD16Feb 9, 2021
    UMPS2May 5, 2015
    UNC1192Sep 9, 2019
    UNC13A2Jan 29, 2021
    UNC13D8Jul 19, 2017
    UNC45A6Jun 15, 2021
    UNC45B6Feb 15, 2021
    UNC808Apr 10, 2018
    UNC93B12Mar 15, 2018
    UNG4Feb 6, 2015
    UPB19Aug 24, 2022
    UPF3B4Aug 20, 2021
    UPK3A3Jan 9, 2019
    UQCC22Oct 11, 2018
    UQCC31Dec 1, 2014
    UQCRB1Apr 8, 2013
    UQCRC13Aug 10, 2021
    UQCRC22Jun 25, 2021
    UQCRFS13Feb 14, 2020
    UQCRH1Nov 28, 2022
    UQCRQ1Oct 30, 2017
    UROC12May 12, 2015
    UROD15Sep 6, 2018
    UROS21May 29, 2019
    USB111Dec 20, 2021
    USF12Jun 24, 2019
    USH1C13Nov 26, 2019
    USH1G6Mar 9, 2021
    USH2A17Oct 11, 2018
    USH2A-AS12Oct 11, 2018
    USP183Feb 5, 2020
    USP27X2Aug 20, 2021
    USP452Jul 24, 2019
    USP537Dec 15, 2021
    USP75Jun 15, 2020
    USP84Sep 26, 2017
    USP9X8Aug 19, 2021
    USP9Y2Aug 9, 2012
    UTP14C4Jul 8, 2020
    UTP231Sep 6, 2018
    UTP41Sep 2, 2016
    UVSSA3Nov 15, 2017
    VAC144Jul 28, 2016
    VAC14-AS11Jul 28, 2016
    VAMP16Apr 9, 2019
    VAMP25Feb 1, 2020
    VANGL14Aug 23, 2019
    VANGL22Aug 11, 2016
    VAPB3Aug 11, 2016
    VARS111Aug 20, 2019
    VARS210Jul 13, 2020
    VAX11Feb 2, 2015
    VCAN8May 10, 2017
    VCAN-AS18May 10, 2017
    VCL4Apr 17, 2013
    VCP17Dec 23, 2020
    VDR15Jul 12, 2021
    VEGFA2May 15, 2018
    VEGFC2Jun 22, 2020
    VHL36Feb 9, 2021
    VIM3Apr 30, 2021
    VIM-AS12Apr 30, 2021
    VIPAS397Aug 18, 2022
    VKORC18Dec 17, 2021
    VLDLR6Jan 17, 2014
    VMA219Sep 9, 2016
    VNN11Apr 27, 2010
    VPS113Nov 30, 2021
    VPS13A10Dec 18, 2019
    VPS13B16Dec 20, 2019
    VPS13C5Dec 20, 2019
    VPS13D7Sep 17, 2018
    VPS166Apr 30, 2021
    VPS26C1Aug 13, 2020
    VPS33A1Nov 16, 2020
    VPS33B13Aug 18, 2022
    VPS351Sep 14, 2017
    VPS35L2Dec 22, 2020
    VPS37A2Jun 30, 2021
    VPS416Jul 6, 2021
    VPS452Mar 13, 2018
    VPS4A5Jun 24, 2021
    VPS502Jan 5, 2022
    VPS513Oct 2, 2019
    VPS532Jan 4, 2022
    VRK12Aug 5, 2021
    VRK23Dec 6, 2019
    VSX15Aug 24, 2019
    VSX26Jan 11, 2011
    VWA16Mar 3, 2022
    VWA3B1Sep 22, 2016
    VWF45Nov 7, 2018
    WAC6Jan 12, 2016
    WARS13Aug 10, 2020
    WARS214Feb 18, 2022
    WARS2-AS12Feb 18, 2022
    WAS26Jan 16, 2018
    WASF13Dec 20, 2019
    WASHC46Jul 21, 2022
    WASHC55Nov 7, 2019
    WBP113Mar 19, 2021
    WBP23Aug 24, 2017
    WDFY31Jun 12, 2017
    WDPCP7Mar 3, 2021
    WDR19Dec 14, 2020
    WDR113Oct 11, 2012
    WDR1921May 2, 2022
    WDR266Aug 16, 2017
    WDR3516Apr 2, 2018
    WDR35-DT3Apr 28, 2021
    WDR364Sep 23, 2014
    WDR374Nov 5, 2019
    WDR46Mar 8, 2019
    WDR455Jul 19, 2017
    WDR45B2Sep 20, 2021
    WDR481Oct 23, 2017
    WDR6213Mar 5, 2019
    WDR71Jan 6, 2021
    WDR724Dec 3, 2014
    WDR739Oct 27, 2017
    WDR814Jul 10, 2018
    WDR831Dec 28, 2021
    WDR83OS1Dec 28, 2021
    WEE26Aug 29, 2020
    WEE2-AS16Aug 29, 2020
    WFS134Sep 4, 2020
    WHRN6Oct 11, 2016
    WIF11Dec 15, 2017
    WIPF12Aug 17, 2020
    WIPI23Nov 11, 2021
    WLS4Dec 5, 2021
    WNK113Nov 26, 2019
    WNK44Feb 27, 2012
    WNT19Jan 3, 2018
    WNT10A17Jun 23, 2020
    WNT10B5Oct 7, 2019
    WNT2B2Oct 31, 2018
    WNT31Aug 15, 2018
    WNT44Nov 22, 2016
    WNT5A4Apr 24, 2015
    WNT7A5Mar 15, 2013
    WRAP534Oct 21, 2016
    WRN10Nov 11, 2020
    WT129Jun 17, 2019
    WT24Apr 4, 2013
    WWC11Jan 13, 2014
    WWOX10Oct 15, 2020
    WWP21Oct 9, 2019
    XBP11Feb 28, 2019
    XDH3Jul 27, 2016
    XIAP8Jan 12, 2022
    XIST1Sep 28, 2016
    XK8Oct 10, 2016
    XPA7Mar 15, 2021
    XPC10Feb 9, 2018
    XPNPEP21Nov 22, 2013
    XPNPEP33Aug 9, 2021
    XPO51Sep 25, 2019
    XPR14Jun 9, 2015
    XRCC12Aug 22, 2017
    XRCC23Dec 30, 2020
    XRCC32Feb 21, 2017
    XRCC49Sep 7, 2016
    XYLT112Nov 7, 2019
    XYLT23Apr 12, 2017
    YAP12Dec 7, 2016
    YARS19Feb 3, 2022
    YARS210Dec 28, 2020
    YEATS21Nov 22, 2019
    YIF1B6Dec 21, 2020
    YIPF55Apr 16, 2021
    YME1L11Feb 16, 2021
    YRDC4Nov 10, 2021
    YWHAG3Dec 3, 2020
    YWHAZ5Dec 23, 2021
    YY15Aug 17, 2018
    YY1AP17Jul 2, 2020
    ZAP706May 27, 2020
    ZBTB117Sep 1, 2022
    ZBTB11-AS11Sep 1, 2022
    ZBTB161Jan 12, 2022
    ZBTB187Apr 5, 2022
    ZBTB206Jun 4, 2022
    ZBTB246Feb 9, 2022
    ZBTB421Mar 9, 2015
    ZBTB7A5Jun 17, 2022
    ZC3H142Dec 2, 2021
    ZC4H214Apr 9, 2020
    ZCCHC81Nov 27, 2019
    ZDBF21Aug 1, 2016
    ZDHHC245Dec 16, 2014
    ZDHHC96May 15, 2020
    ZEB14Jan 18, 2018
    ZEB217Jul 2, 2018
    ZFAT1Jan 2, 2013
    ZFHX21Jan 31, 2018
    ZFHX31Jan 22, 2015
    ZFHX3-AS11Jan 22, 2015
    ZFP36L22Dec 8, 2022
    ZFP577Mar 4, 2019
    ZFP91-CNTF1Aug 17, 2012
    ZFPM214Dec 12, 2017
    ZFPM2-AS110Dec 12, 2017
    ZFR1Mar 7, 2014
    ZFYVE196Apr 27, 2022
    ZFYVE2610Dec 15, 2017
    ZFYVE272Jul 12, 2016
    ZIC15Jan 15, 2020
    ZIC26Nov 8, 2019
    ZIC310Feb 13, 2020
    ZMIZ16Mar 17, 2020
    ZMPSTE2411May 11, 2018
    ZMYM26Sep 14, 2021
    ZMYM31Mar 8, 2017
    ZMYND106Apr 28, 2017
    ZMYND119Sep 8, 2022
    ZMYND151Aug 14, 2015
    ZNF1411May 8, 2013
    ZNF1426May 13, 2019
    ZNF1484Dec 20, 2016
    ZNF2762Jan 11, 2022
    ZNF2771Nov 5, 2014
    ZNF2927Feb 19, 2021
    ZNF3355Feb 19, 2019
    ZNF3415Feb 4, 2019
    ZNF3651Aug 3, 2020
    ZNF4072Oct 1, 2021
    ZNF4084Jan 7, 2019
    ZNF412Mar 22, 2022
    ZNF4233Feb 17, 2014
    ZNF4545Jun 17, 2015
    ZNF4627Oct 14, 2019
    ZNF4694Nov 28, 2012
    ZNF5131Oct 12, 2016
    ZNF5264May 20, 2022
    ZNF5822Sep 19, 2018
    ZNF5921Sep 1, 2015
    ZNF6276Aug 25, 2017
    ZNF6443Jan 20, 2022
    ZNF664-RFLNA1Dec 20, 2021
    ZNF6741Jan 23, 2014
    ZNF6872Feb 26, 2016
    ZNF6995Aug 18, 2021
    ZNF7114Aug 20, 2021
    ZNF7502Jan 28, 2022
    ZNF811Feb 22, 2017
    ZNFX16Dec 9, 2021
    ZNHIT31Jun 1, 2017
    ZP14Aug 3, 2021
    ZP23Aug 21, 2019
    ZP32Aug 20, 2019
    ZPBP1Mar 17, 2022
    ZPR11May 10, 2021
    ZRANB31Mar 4, 2015
    ZRS19Oct 4, 2016
    ZSCAN251Mar 4, 2009
    ZSWIM62Feb 9, 2018
    ZSWIM73Apr 11, 2022

    Condition

    NameSubmissionsLast Updated
    00161Sep 2, 2022
    17,20-lyase deficiency, isolated2May 17, 2018
    17-alpha-hydroxylase/17,20-lyase deficiency, combined complete20May 17, 2018
    17-alpha-hydroxylase/17,20-lyase deficiency, combined partial10May 17, 2018
    2-aminoadipic 2-oxoadipic aciduria3Apr 21, 2021
    21-HYDROXYLASE POLYMORPHISM3Apr 29, 2013
    3 beta-Hydroxysteroid dehydrogenase deficiency10Apr 6, 2016
    3-Methylglutaconic aciduria type 214Mar 21, 2022
    3-Methylglutaconic aciduria type 34Jun 17, 2020
    3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency13Jun 20, 2016
    3-hydroxy-3-methylglutaryl-CoA synthase deficiency10Jul 27, 2021
    3-methylcrotonyl-CoA carboxylase 1 deficiency7Oct 4, 2016
    3-methylcrotonyl-CoA carboxylase 2 deficiency10Oct 4, 2016
    3-methylglutaconic aciduria type 110Nov 16, 2021
    3-methylglutaconic aciduria type 52Aug 2, 2017
    3-methylglutaconic aciduria type 84Jul 20, 2017
    3-methylglutaconic aciduria type 96Jan 14, 2022
    3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia15Aug 11, 2022
    3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome10Nov 17, 2021
    3M syndrome 15Jun 30, 2021
    3M syndrome 26Apr 8, 2019
    3M syndrome 33Jul 6, 2021
    3MC syndrome 15Aug 4, 2016
    3MC syndrome 26Sep 13, 2013
    3MC syndrome 33Apr 13, 2017
    46,XX ovarian dysgenesis-short stature syndrome3Apr 11, 2022
    46,XX sex reversal 23Aug 3, 2016
    46,XX sex reversal 42Apr 23, 2021
    46,XY disorder of sex development due to testicular 17,20-desmolase deficiency5Aug 3, 2015
    46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome5Oct 7, 2020
    46,XY sex reversal 120May 23, 2019
    46,XY sex reversal 103Aug 3, 2016
    46,XY sex reversal 21Aug 10, 2016
    46,XY sex reversal 314Apr 23, 2021
    46,XY sex reversal 52May 16, 2017
    46,XY sex reversal 66Jul 17, 2017
    46,XY sex reversal 72Oct 7, 2020
    46,XY sex reversal 93Dec 12, 2017
    46,XY true hermaphroditism, SRY-related1May 9, 2017
    46,xx sex reversal 52Jun 2, 2020
    5-Oxoprolinase deficiency3Dec 5, 2013
    6-Pyruvoyl-tetrahydrobiopterin synthase deficiency7Oct 21, 2016
    8q24.3 microdeletion syndrome7Dec 21, 2018
    ABCA1 polymorphism1Oct 30, 2019
    ABCD syndrome1Sep 27, 2016
    ABO blood group system5Nov 18, 2014
    ABeta amyloidosis, Arctic type1Apr 2, 2013
    ABeta amyloidosis, Iowa type1Dec 11, 2019
    ABeta amyloidosis, Italian type1May 17, 2018
    ABeta amyloidosis, dutch type1Apr 2, 2013
    ABetaA21G amyloidosis1May 17, 2018
    ABri amyloidosis1Nov 11, 2014
    ACCES syndrome8Jul 14, 2022
    ACID PHOSPHATASE 1, SOLUBLE, A/B POLYMORPHISM OF1Aug 12, 2020
    ACTH-independent adrenal Cushing syndrome, somatic1Dec 28, 2020
    ACTH-independent macronodular adrenal hyperplasia 28Jun 30, 2022
    ACTININ, ALPHA-3 POLYMORPHISM1May 14, 2021
    ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder8Feb 24, 2021
    ADRB2 POLYMORPHISM1May 3, 2019
    ADRENAL INSUFFICIENCY, NR5A1-RELATED2Feb 16, 2018
    ADULT i BLOOD GROUP PHENOTYPE2May 6, 2015
    ADULT syndrome6Jan 5, 2018
    ADan amyloidosis1Nov 11, 2014
    AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE2Apr 13, 2022
    AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome5Dec 8, 2020
    AICA-ribosiduria4Sep 24, 2020
    AIDS, progression to1Apr 12, 2012
    ALBUMIN ASOLA1Jul 18, 2019
    ALBUMIN B1Jun 6, 2012
    ALBUMIN BAZZANO1Sep 9, 2014
    ALBUMIN CASEBROOK1Jul 18, 2019
    ALBUMIN CASERTA1Jul 18, 2019
    ALBUMIN CASTEL DI SANGRO1Jul 18, 2019
    ALBUMIN COARI I1Jul 18, 2019
    ALBUMIN DUBLIN1Jul 18, 2019
    ALBUMIN FUKUOKA 11Jul 18, 2019
    ALBUMIN HAWKES BAY1Jul 18, 2019
    ALBUMIN HERBORN1Jul 18, 2019
    ALBUMIN HIROSHIMA 11Jul 18, 2019
    ALBUMIN HIROSHIMA 21Jul 18, 2019
    ALBUMIN IOWA CITY 11Jul 18, 2019
    ALBUMIN KOMAGOME 21Jul 18, 2019
    ALBUMIN LARINO1Jul 18, 2019
    ALBUMIN MALMO-101Jul 18, 2019
    ALBUMIN MALMO-471Jul 18, 2019
    ALBUMIN MALMO-51Jul 18, 2019
    ALBUMIN MALMO-951Jul 18, 2019
    ALBUMIN MEXICO 21Jul 18, 2019
    ALBUMIN NAGASAKI 21Jul 18, 2019
    ALBUMIN NAGASAKI 31Jul 18, 2019
    ALBUMIN NAGOYA1Jul 18, 2019
    ALBUMIN NASKAPI1Jun 6, 2012
    ALBUMIN ORTONOVO1Jul 18, 2019
    ALBUMIN OSAKA 11Jul 18, 2019
    ALBUMIN PARKLANDS1Jul 18, 2019
    ALBUMIN REDHILL1Jul 18, 2019
    ALBUMIN ROMA1Jul 18, 2019
    ALBUMIN RUGBY PARK1Jul 18, 2019
    ALBUMIN SONDRIA1Jul 18, 2019
    ALBUMIN TAGLIACOZZO1Jun 6, 2012
    ALBUMIN TOCHIGI1Jul 18, 2019
    ALBUMIN TORINO1Jul 18, 2019
    ALBUMIN TRADATE 21Jul 18, 2019
    ALBUMIN VANCOUVER1Jun 6, 2012
    ALBUMIN VANVES1Jul 18, 2019
    ALBUMIN VENEZIA1Jul 18, 2019
    ALBUMIN VIBO VALENTIA1Jul 18, 2019
    ALBUMIN YANOMAMA 21Jul 18, 2019
    ALDH18A1-related de Barsy syndrome6Oct 19, 2015
    ALDH9A1*2 POLYMORPHISM1Jun 18, 2012
    ALG1-congenital disorder of glycosylation7Apr 16, 2019
    ALG11-congenital disorder of glycosylation9Aug 14, 2020
    ALG12-congenital disorder of glycosylation9May 21, 2020
    ALG3-congenital disorder of glycosylation5Mar 27, 2017
    ALG6-congenital disorder of glycosylation 1C6Jan 2, 2020
    ALG8 congenital disorder of glycosylation8Mar 2, 2022
    ALG9 congenital disorder of glycosylation4Oct 3, 2022
    ALKALINE PHOSPHATASE, PLACENTAL, ALLELE-1 POLYMORPHISM1Sep 14, 2012
    ALKALINE PHOSPHATASE, PLACENTAL, ALLELE-3 POLYMORPHISM1Sep 14, 2012
    ALPHA-2-MACROGLOBULIN POLYMORPHISM5Jun 23, 2021
    ALZAHRANI-KUWAHARA SYNDROME3Apr 19, 2021
    AMED syndrome, digenic4Feb 12, 2021
    AMELOGENESIS IMPERFECTA, TYPE 1K2Oct 26, 2022
    AMINOLEVULINATE DEHYDRATASE, ALAD*1/ALAD*2 POLYMORPHISM1Dec 21, 2012
    AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, MODIFIER OF1Aug 16, 2019
    AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED6Aug 23, 2016
    AMYOTROPHIC LATERAL SCLEROSIS 26 WITH FRONTOTEMPORAL DEMENTIA1Jan 6, 2021
    ANE syndrome1Oct 30, 2017
    ANEMIA, PERINATAL HEMOLYTIC, FATAL OR NEAR-FATAL1Apr 25, 2018
    ANGIOTENSIN I-CONVERTING ENZYME INSERTION/DELETION POLYMORPHISM1Mar 18, 2022
    ANTERIOR SEGMENT DYSGENESIS 1, MULTIPLE SUBTYPES1Jan 26, 2017
    ANTERIOR SEGMENT DYSGENESIS 4, PETERS ANOMALY SUBTYPE1Jan 26, 2017
    ANTERIOR SEGMENT DYSGENESIS 5, MULTIPLE SUBTYPES1Jan 30, 2017
    ANTERIOR SEGMENT DYSGENESIS 5, PETERS ANOMALY SUBTYPE1Jan 26, 2017
    ANTICHYMOTRYPSIN BOCHUM 11Jul 23, 2010
    ANTICHYMOTRYPSIN BONN 11Jul 23, 2010
    ANTICHYMOTRYPSIN ISEHARA 11Jul 23, 2010
    ANTICHYMOTRYPSIN ISEHARA 21Jul 23, 2010
    ANTICHYMOTRYPSIN SIGNAL PEPTIDE POLYMORPHISM1Jul 23, 2010
    APOB POLYMORPHISM IN SIGNAL PEPTIDE1Apr 12, 2013
    APOE2 VARIANT1Jun 27, 2022
    APOE2-DUNEDIN1Jan 10, 2018
    APOE3 ISOFORM1Jan 10, 2018
    APOE3 VARIANT1Nov 22, 2019
    APOE3(-)-FREIBURG1Aug 5, 2016
    APOE4 VARIANT1Jun 27, 2022
    APOE4(+)1Nov 22, 2019
    APOE4(-)-FREIBURG1Feb 15, 2017
    APOE5 VARIANT2Nov 22, 2019
    APOH POLYMORPHISM1Jun 24, 2011
    APOLIPOPROTEIN A-I (BALTIMORE)1Aug 19, 2019
    APOLIPOPROTEIN A-I (GIESSEN)1Aug 19, 2019
    APOLIPOPROTEIN A-I (MARBURG)1Aug 19, 2019
    APOLIPOPROTEIN A-I (MILANO)1May 28, 2021
    APOLIPOPROTEIN A-I (MUNSTER3B)1Sep 11, 2017
    APOLIPOPROTEIN A-I (MUNSTER3C)1Sep 11, 2017
    APOLIPOPROTEIN A-I (MUNSTER4)1Aug 19, 2019
    APOLIPOPROTEIN A-I (NORWAY)1Aug 19, 2019
    APOLIPOPROTEIN A-II DEFICIENCY, FAMILIAL, DUE TO APOA-II (HIROSHIMA)1Oct 14, 2009
    APOLIPOPROTEIN A-IV POLYMORPHISM, APOA4*1/APOA4*21Jul 16, 2012
    APOLIPOPROTEIN A-IV RARE VARIANT, APOA4*01Jul 16, 2012
    APOLIPOPROTEIN A-IV RARE VARIANT, APOA4*31Jul 16, 2012
    APOLIPOPROTEIN A-IV RARE VARIANT, APOA4*51Jul 16, 2012
    APOLIPOPROTEIN C-II (AFRICAN)1Jul 8, 2008
    APOLIPOPROTEIN C-II (AUCKLAND)1Jul 8, 2008
    APOLIPOPROTEIN C-II (BARI)1Jul 8, 2008
    APOLIPOPROTEIN C-II (HAMBURG)1Jul 8, 2008
    APOLIPOPROTEIN C-II (PADOVA)1Jul 8, 2008
    APOLIPOPROTEIN C-II (PARIS)1Jul 8, 2008
    APOLIPOPROTEIN C-II (SAN FRANCISCO)1Jul 8, 2008
    APOLIPOPROTEIN C-II (ST. MICHAEL)1Jul 8, 2008
    APOLIPOPROTEIN C-II (TORONTO)1Jul 8, 2008
    APOLIPOPROTEIN C-II (WAKAYAMA)1Jul 8, 2008
    APOLIPOPROTEIN(a), TYPE C POLYMORPHISM1Jun 19, 2019
    APOLIPOPROTEIN(a), TYPE D POLYMORPHISM1Jun 19, 2019
    APP POLYMORPHISM1Apr 2, 2013
    APRT deficiency, Japanese type1Sep 20, 2012
    ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11, WITH OR WITHOUT MILD PALMOPLANTAR KERATODERMA1Jun 8, 2016
    ARYLSULFATASE A POLYMORPHISM1Nov 7, 2018
    ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET4Jun 8, 2021
    AUBERGER BLOOD GROUP POLYMORPHISM Au(a)/Au(b)1Feb 5, 2018
    AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITHOUT IMMUNODEFICIENCY3Jun 17, 2021
    Aarskog syndrome12Aug 31, 2021
    Abacavir hypersensitivity1Apr 25, 2017
    Abdominal obesity-metabolic syndrome 32Jun 6, 2017
    Abdominal obesity-metabolic syndrome 43Oct 11, 2019
    Abetalipoproteinaemia9Mar 6, 2019
    Ablepharon macrostomia syndrome1Nov 15, 2019
    Abnormal anterior chamber morphology1Sep 19, 2019
    Abnormal hemoglobin1Mar 28, 2013
    Abortive cerebellar ataxia5Jan 2, 2018
    Abruzzo-Erickson syndrome1Mar 26, 2020
    Acampomelic campomelic dysplasia3Jul 16, 2019
    Acampomelic campomelic dysplasia with autosomal sex reversal1Sep 2, 2014
    Acanthocytosis due to band 3 ht1Nov 13, 2017
    Acatalasemia, japanese type2Mar 14, 2013
    Acatalasia1Mar 14, 2013
    Accelerated tumor formation, susceptibility to1Nov 26, 2019
    Achalasia-alacrima syndrome2Mar 10, 2021
    Acheiropodia1Sep 11, 2014
    Achondrogenesis type II4Mar 2, 2017
    Achondrogenesis, type IA6Apr 12, 2021
    Achondrogenesis, type IB5Apr 6, 2015
    Achondroplasia5Oct 19, 2017
    Achromatopsia 211Apr 19, 2022
    Achromatopsia 35Sep 8, 2011
    Achromatopsia 44Oct 2, 2017
    Achromatopsia 514Mar 15, 2019
    Achromatopsia 61Dec 28, 2020
    Achromatopsia 76Aug 13, 2015
    Acid alpha-glucosidase, allele 21Mar 16, 2011
    Acid alpha-glucosidase, allele 41Oct 18, 2016
    Acne inversa, familial, 16Jul 14, 2021
    Acne inversa, familial, 27Dec 1, 2017
    Acne inversa, familial, 31Jun 28, 2022
    Acquired hemoglobin H disease2Mar 5, 2021
    Acquired immunodeficiency syndrome, delayed progression to1Mar 28, 2013
    Acquired immunodeficiency syndrome, rapid progression to1Sep 15, 2016
    Acquired immunodeficiency syndrome, slow progression to2Jun 11, 2019
    Acquired partial lipodystrophy4Feb 27, 2020
    Acquired polycythemia vera1Jan 12, 2022
    Acquired susceptibility to long QT syndrome 11Feb 3, 2017
    Acral peeling skin syndrome6Sep 27, 2016
    Acrocallosal syndrome5Dec 15, 2017
    Acrocapitofemoral dysplasia3Nov 30, 2022
    Acrocephalosyndactyly type I4Aug 10, 2018
    Acrodermatitis continua suppurativa of Hallopeau8Dec 16, 2020
    Acrodysostosis 1 with or without hormone resistance4Aug 4, 2016
    Acrodysostosis 2 with or without hormone resistance10Dec 28, 2020
    Acroerythrokeratoderma9Feb 26, 2021
    Acrofacial dysostosis Cincinnati type2Jan 24, 2018
    Acrokeratosis verruciformis of Hopf2Nov 15, 2012
    Acromelic frontonasal dysostosis1Feb 8, 2018
    Acromesomelic dysplasia 1, Maroteaux type5Nov 18, 2021
    Acromesomelic dysplasia 2B4Apr 3, 2020
    Acromesomelic dysplasia 2C, Hunter-Thompson type1Apr 3, 2020
    Acromesomelic dysplasia 34Apr 6, 2022
    Acromesomelic dysplasia 42Jan 18, 2022
    Acromicric dysplasia5Jan 4, 2018
    Acroosteolysis-keloid-like lesions-premature aging syndrome1Nov 21, 2017
    Actin accumulation myopathy11Apr 2, 2021
    Action myoclonus-renal failure syndrome7Jun 21, 2018
    Actn3 deficiency1May 14, 2021
    Acute febrile neutrophilic dermatosis2Mar 3, 2021
    Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins6Aug 23, 2017
    Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome4Oct 11, 2019
    Acute intermittent porphyria41Oct 31, 2020
    Acute lymphoid leukemia6Nov 2, 2021
    Acute megakaryocytic leukemia1Nov 19, 2012
    Acute myeloid leukemia26Jan 12, 2022
    Acyl-CoA dehydrogenase 9 deficiency8Dec 13, 2018
    Acyl-CoA oxidase deficiency8Aug 31, 2020
    Adams-Oliver syndrome 12Sep 20, 2013
    Adams-Oliver syndrome 27Nov 26, 2018
    Adams-Oliver syndrome 32Sep 10, 2012
    Adams-Oliver syndrome 45Dec 17, 2020
    Adams-Oliver syndrome 58Nov 26, 2018
    Adams-Oliver syndrome 66Feb 13, 2018
    Addison disease, susceptibility to1Oct 27, 2011
    Adenine phosphoribosyltransferase deficiency8Aug 3, 2015
    Adenocarcinoma of lung, response to tyrosine kinase inhibitor in, somatic1Jan 23, 2018
    Adenoma, cortisol-producing1Apr 29, 2013
    Adenomatous polyposis coli with congenital cholesteatoma1Apr 4, 2013
    Adenomatous polyposis coli, susceptibility to1Apr 1, 2019
    Adenosine deaminase 2 allozyme1Nov 15, 2012
    Adenosine kinase deficiency3Oct 10, 2016
    Adenylosuccinate lyase deficiency8Dec 11, 2017
    Adermatoglyphia4Mar 14, 2019
    Adrenocortical adenoma1Nov 28, 2012
    Adrenocortical carcinoma, pediatric2Nov 6, 2018
    Adrenocortical tumor, somatic3Aug 4, 2016
    Adrenoleukodystrophy24Feb 21, 2017
    Adult hypophosphatasia4Apr 14, 2015
    Adult polyglucosan body neuropathy5Apr 26, 2017
    Adult-onset autosomal dominant demyelinating leukodystrophy1Mar 18, 2016
    Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency7Aug 2, 2021
    Adult-onset proximal spinal muscular atrophy, autosomal dominant1Jul 26, 2013
    Advanced sleep phase syndrome 11Aug 21, 2019
    Advanced sleep phase syndrome 22Jun 9, 2016
    Advanced sleep phase syndrome 31Aug 21, 2019
    Advanced sleep phase syndrome, familial, 41Aug 23, 2022
    Aerodigestive tract cancer, squamous cell, alcohol-related, protection against1Jun 4, 2018
    Agammaglobulinemia 10, autosomal dominant5Jan 25, 2022
    Agammaglobulinemia 2, autosomal recessive3Jun 13, 2016
    Agammaglobulinemia 3, autosomal recessive2Nov 2, 2010
    Agammaglobulinemia 4, autosomal recessive1May 1, 2013
    Agammaglobulinemia 5, autosomal dominant1Jun 4, 2020
    Agammaglobulinemia 6, autosomal recessive2Jan 10, 2017
    Agammaglobulinemia 7, autosomal recessive1Jul 1, 2019
    Agammaglobulinemia 8, autosomal dominant1Apr 12, 2022
    Agammaglobulinemia 9, autosomal recessive5Jan 18, 2022
    Age related macular degeneration 11Nov 13, 2015
    Age related macular degeneration 111May 5, 2016
    Age related macular degeneration 121Sep 5, 2014
    Age related macular degeneration 144Aug 12, 2016
    Age related macular degeneration 151Jan 7, 2014
    Age related macular degeneration 21Sep 11, 2017
    Age related macular degeneration 46Jun 11, 2019
    Age related macular degeneration 51Dec 8, 2016
    Age related macular degeneration 61Nov 1, 2016
    Age related macular degeneration 71Feb 18, 2015
    Age related macular degeneration 82Oct 22, 2013
    Age-related macular degeneration1Jun 29, 2017
    Agenesis of cerebellar vermis2Feb 16, 2017
    Agenesis of corpus callosum, cardiac, ocular, and genital syndrome7Jun 26, 2020
    Agenesis of the corpus callosum with peripheral neuropathy10Sep 15, 2016
    Agnathia-otocephaly complex4Nov 21, 2018
    Aicardi Goutieres syndrome 1, autosomal dominant2Oct 18, 2017
    Aicardi-Goutieres syndrome 15Jan 22, 2021
    Aicardi-Goutieres syndrome 22Oct 5, 2016
    Aicardi-Goutieres syndrome 32Oct 18, 2017
    Aicardi-Goutieres syndrome 46Sep 14, 2018
    Aicardi-Goutieres syndrome 511Sep 6, 2018
    Aicardi-Goutieres syndrome 610Oct 14, 2019
    Aicardi-Goutieres syndrome 79Mar 7, 2022
    Aicardi-Goutieres syndrome 81Aug 16, 2021
    Aicardi-Goutieres syndrome 96Aug 16, 2021
    Al Kaissi syndrome4Oct 2, 2017
    Al-Gazali syndrome3Apr 27, 2020
    Al-Raqad syndrome4Jul 29, 2019
    Alacrima, achalasia, and intellectual disability syndrome6Feb 18, 2022
    Alagille syndrome due to a JAG1 point mutation13Mar 2, 2022
    Alagille syndrome due to a NOTCH2 point mutation2Jul 27, 2012
    Alazami-Yuan syndrome2Sep 23, 2016
    Alcohol dependence5Feb 12, 2021
    Alcohol dependence, susceptibility to1Dec 11, 2019
    Alcohol sensitivity, acute1Feb 12, 2021
    Alcoholism, susceptibility to3Aug 12, 2016
    Aldosterone to renin ratio, increased2Apr 29, 2009
    Aldosterone-producing adenoma with seizures and neurological abnormalities2Oct 14, 2013
    Aldosterone-producing adrenal adenoma, somatic2Apr 25, 2017
    Alexander disease13Apr 16, 2019
    Alkaline ceramidase 3 deficiency1Nov 10, 2017
    Alkaptonuria10May 8, 2015
    Alkuraya-Kucinskas syndrome6Jan 11, 2018
    Allan-Herndon-Dudley syndrome11Jun 15, 2017
    Allergic rhinitis, susceptibility to1Jun 26, 2020
    Alloalbuminemia2Jul 18, 2019
    Alopecia universalis congenita4Sep 11, 2019
    Alopecia-intellectual disability syndrome 11Feb 15, 2022
    Alopecia-intellectual disability syndrome 47Feb 10, 2022
    Alpha thalassemia-X-linked intellectual disability syndrome14Mar 5, 2021
    Alpha trait thalassemia1Oct 13, 2016
    Alpha-1-antitrypsin deficiency1Jul 15, 2016
    Alpha-2-plasmin inhibitor deficiency3Jul 5, 2012
    Alpha-N-acetylgalactosaminidase deficiency type 11Feb 3, 2009
    Alpha-N-acetylgalactosaminidase deficiency type 23Sep 18, 2013
    Alpha-N-acetylgalactosaminidase deficiency type 31Feb 3, 2009
    Alpha-fetoprotein deficiency2Aug 5, 2016
    Alpha-fetoprotein, hereditary persistence of2Jan 3, 2018
    Alpha-methylacyl-CoA racemase deficiency1Jan 24, 2017
    Alpha-thalassemia, Dutch type5Oct 13, 2016
    Alpha-thalassemia, Hmong type1Mar 28, 2013
    Alpha-thalassemia, zf type1Mar 28, 2013
    Alpha-thalassemia-2, nondeletional1Mar 28, 2013
    Alstrom syndrome8Nov 1, 2019
    Alternating hemiplegia of childhood 12Nov 10, 2021
    Alternating hemiplegia of childhood 29Apr 7, 2017
    Alveolar capillary dysplasia with pulmonary venous misalignment6Jun 5, 2020
    Alzheimer disease2Feb 22, 2022
    Alzheimer disease 182Feb 28, 2017
    Alzheimer disease 191Oct 12, 2016
    Alzheimer disease 21Jun 27, 2022
    Alzheimer disease 327Jun 28, 2022
    Alzheimer disease 3, protection against, due to APOE3-Christchurch1Nov 25, 2019
    Alzheimer disease 49Feb 1, 2017
    Alzheimer disease 92Apr 25, 2016
    Alzheimer disease familial 3, with spastic paraparesis1May 12, 2017
    Alzheimer disease type 113Feb 14, 2019
    Alzheimer disease, early-onset, susceptibility to1Aug 6, 2019
    Alzheimer disease, early-onset, with cerebral amyloid angiopathy1Apr 2, 2013
    Alzheimer disease, familial, 3, with spastic paraparesis and apraxia2May 12, 2017
    Alzheimer disease, familial, 3, with spastic paraparesis and unusual plaques2May 12, 2017
    Alzheimer disease, familial, 3, with unusual plaques2May 12, 2017
    Alzheimer disease, familial, with spastic paraparesis and unusual plaques3Jun 28, 2022
    Alzheimer disease, late-onset, susceptibility to2Mar 12, 2015
    Alzheimer disease, protection against2Sep 6, 2016
    Alzheimer disease, susceptibility to4Dec 16, 2020
    Amelocerebrohypohidrotic syndrome8Sep 13, 2019
    Amelogenesis imperfecta - hypoplastic autosomal dominant - local4Aug 3, 2017
    Amelogenesis imperfecta hypomaturation type 2A24Apr 1, 2015
    Amelogenesis imperfecta hypomaturation type 2A34Dec 3, 2014
    Amelogenesis imperfecta hypomaturation type 2A45Oct 5, 2017
    Amelogenesis imperfecta hypomaturation type 2A53Oct 10, 2017
    Amelogenesis imperfecta type 1A3Nov 7, 2018
    Amelogenesis imperfecta type 1C1Aug 3, 2017
    Amelogenesis imperfecta type 1E11Jan 18, 2022
    Amelogenesis imperfecta type 1F2Nov 22, 2016
    Amelogenesis imperfecta type 1G9May 25, 2022
    Amelogenesis imperfecta type 1H4Feb 13, 2015
    Amelogenesis imperfecta type 2A12Apr 1, 2015
    Amelogenesis imperfecta type 3B1Aug 5, 2017
    Amelogenesis imperfecta, hypocalcification type13Jun 19, 2018
    Amelogenesis imperfecta, hypomaturation type, IIa63Nov 21, 2016
    Amelogenesis imperfecta, type 1E, with snow-capped teeth2Jan 14, 2022
    Amelogenesis imperfecta, type 1J5Aug 15, 2019
    Amelogenesis imperfecta, type 3c3Apr 11, 2019
    Aminoacylase 1 deficiency7Jan 9, 2018
    Aminoglycoside-induced deafness6Jun 4, 2022
    Amish lethal microcephaly1Feb 10, 2012
    Amyloidogenic transthyretin amyloidosis39Jun 21, 2019
    Amyloidosis, cardiac and cutaneous2Oct 13, 2016
    Amyloidosis, primary localized cutaneous, 15Mar 7, 2017
    Amyloidosis, primary localized cutaneous, 21Apr 7, 2018
    Amyloidosis, primary localized cutaneous, 36Mar 27, 2018
    Amyotrophic lateral sclerosis 1, autosomal recessive3Aug 15, 2016
    Amyotrophic lateral sclerosis 22 with frontotemporal dementia1Jan 30, 2015
    Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia1Jan 6, 2021
    Amyotrophic lateral sclerosis 6, autosomal recessive1Jun 23, 2017
    Amyotrophic lateral sclerosis type 133Sep 26, 2019
    Amyotrophic lateral sclerosis type 1012Jun 30, 2021
    Amyotrophic lateral sclerosis type 113Oct 5, 2016
    Amyotrophic lateral sclerosis type 124Jan 5, 2021
    Amyotrophic lateral sclerosis type 156Feb 4, 2015
    Amyotrophic lateral sclerosis type 162Dec 17, 2015
    Amyotrophic lateral sclerosis type 184Jul 10, 2019
    Amyotrophic lateral sclerosis type 192Nov 6, 2013
    Amyotrophic lateral sclerosis type 2, juvenile4Feb 21, 2020
    Amyotrophic lateral sclerosis type 202Nov 5, 2013
    Amyotrophic lateral sclerosis type 214Dec 2, 2021
    Amyotrophic lateral sclerosis type 225Jan 30, 2015
    Amyotrophic lateral sclerosis type 233Jan 30, 2018
    Amyotrophic lateral sclerosis type 43Oct 18, 2017
    Amyotrophic lateral sclerosis type 56May 17, 2019
    Amyotrophic lateral sclerosis type 610Dec 23, 2020
    Amyotrophic lateral sclerosis type 82Aug 11, 2016
    Amyotrophic lateral sclerosis type 910Mar 18, 2019
    Amyotrophic lateral sclerosis, susceptibility to7Apr 16, 2018
    Amyotrophic lateral sclerosis, susceptibility to, 131Oct 31, 2019
    Amyotrophic lateral sclerosis, susceptibility to, 244Feb 28, 2018
    Amyotrophic lateral sclerosis, susceptibility to, 254Mar 29, 2018
    Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1, susceptibility to1May 8, 2017
    Amyotrophic neuralgia4May 23, 2016
    Analbuminemia6Jun 3, 2021
    Analbuminemia Baghdad1May 4, 2021
    Anaphylotoxin inactivator deficiency2Mar 27, 2003
    Anauxetic dysplasia 15Mar 21, 2017
    Anauxetic dysplasia 25Apr 10, 2017
    Anauxetic dysplasia 32May 1, 2020
    Andersen Tawil syndrome12Sep 26, 2012
    Androgen insensitivity, partial, with breast cancer1Apr 1, 2013
    Androgen resistance syndrome30Nov 1, 2019
    Anemia, congenital dyserythropoietic, type IIIb, autosomal recessive2Mar 15, 2022
    Anemia, hereditary sideroblastic 1, pyridoxine refractory1Dec 11, 2017
    Anemia, nonspherocytic hemolytic, due to G6PD deficiency16May 24, 2017
    Anemia, sideroblastic, 52Sep 17, 2021
    Anencephaly1Jul 22, 2021
    Anencephaly 21Jul 23, 2021
    Aneurysm, intracranial berry, 121Sep 13, 2021
    Aneurysm-osteoarthritis syndrome10Jun 17, 2016
    Angelman syndrome10Mar 15, 2018
    Angioedema, hereditary, 42Aug 3, 2021
    Angioedema, hereditary, 51Jun 9, 2021
    Angioedema, hereditary, 62Jun 9, 2021
    Angioedema, hereditary, 71Jun 8, 2021
    Angioedema, hereditary, 81Oct 13, 2021
    Angiofibroma, somatic2Nov 28, 2012
    Angiokeratoma corporis diffusum57Sep 9, 2021
    Angiotensin i-converting enzyme, benign serum increase1Aug 5, 2016
    Anhaptoglobinemia3Oct 7, 2016
    Aniridia 116Jan 26, 2017
    Aniridia 31Oct 3, 2016
    Aniridia, atypical1Sep 26, 2016
    Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome4Oct 14, 2018
    Annular epidermolytic ichthyosis1Oct 29, 2021
    Anonychia8Sep 20, 2019
    Anophthalmia/microphthalmia-esophageal atresia syndrome17Dec 26, 2019
    Anterior segment anomalies and cataract1Sep 19, 2019
    Anterior segment dysgenesis 37Jun 21, 2017
    Anterior segment dysgenesis 42Jan 26, 2017
    Anterior segment dysgenesis 66Jul 21, 2021
    Anterior segment dysgenesis 74Jan 26, 2017
    Anterior segment dysgenesis 83Dec 18, 2019
    Antidepressant drug treatment, accelerated response to1Jul 7, 2011
    Antigen in Scianna blood group system1Nov 23, 2016
    Antisocial behavior, susceptibility to1Apr 30, 2018
    Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis10Jul 17, 2017
    Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis3Aug 9, 2018
    Aortic aneurysm, familial thoracic 104Oct 24, 2016
    Aortic aneurysm, familial thoracic 11, susceptibility to2Jan 6, 2018
    Aortic aneurysm, familial thoracic 125Apr 5, 2022
    Aortic aneurysm, familial thoracic 44May 27, 2021
    Aortic aneurysm, familial thoracic 65Oct 26, 2017
    Aortic aneurysm, familial thoracic 73Dec 23, 2019
    Aortic aneurysm, familial thoracic 81May 23, 2019
    Aortic aneurysm, familial thoracic 92May 22, 2015
    Aortic valve disease 14Feb 5, 2020
    Aortic valve disease 25Dec 18, 2019
    Aortic valve disease 32Jul 9, 2019
    Aphasia, primary progressive, susceptibility to1Aug 6, 2019
    Aplasia cutis congenita1Sep 12, 2019
    Aplastic anemia3Dec 1, 2016
    Aplastic anemia, susceptibility to2Mar 19, 2021
    Apocrine gland secretion, variation in2Feb 28, 2011
    Apolipoprotein A-I deficiency6Mar 18, 2020
    Apolipoprotein C-III, nonglycosylated1Jun 8, 2011
    Apolipoprotein c-III deficiency5Jan 25, 2018
    Apolipoprotein c-ii variant1Jul 8, 2008
    Apolipoproteins a-i and c-iii, combined deficiency of1Aug 19, 2019
    Apparent mineralocorticoid excess11Oct 21, 2016
    Apparent mineralocorticoid excess, mild2Oct 21, 2016
    Arginase deficiency12Jul 1, 2019
    Arginine:glycine amidinotransferase deficiency5Jun 11, 2020
    Argininosuccinate lyase deficiency7Nov 22, 2021
    Armfield syndrome5Aug 27, 2020
    Aromatase deficiency10Mar 19, 2019
    Aromatase excess syndrome3Aug 4, 2016
    Arrhinia with choanal atresia and microphthalmia syndrome9Feb 27, 2017
    Arrhythmogenic cardiomyopathy with woolly hair and keratoderma3Nov 22, 2016
    Arrhythmogenic right ventricular dysplasia 12Apr 14, 2017
    Arrhythmogenic right ventricular dysplasia 109May 10, 2017
    Arrhythmogenic right ventricular dysplasia 113Sep 3, 2013
    Arrhythmogenic right ventricular dysplasia 121May 3, 2021
    Arrhythmogenic right ventricular dysplasia 132Feb 20, 2014
    Arrhythmogenic right ventricular dysplasia 22Jan 13, 2022
    Arrhythmogenic right ventricular dysplasia 52Sep 28, 2018
    Arrhythmogenic right ventricular dysplasia 84Jun 13, 2018
    Arrhythmogenic right ventricular dysplasia 94Jan 29, 2020
    Arrhythmogenic right ventricular dysplasia, familial, 11, with mild palmoplantar keratoderma and woolly hair1Nov 14, 2014
    Arrhythmogenic right ventricular dysplasia, familial, 142Jun 23, 2020
    Arterial calcification, generalized, of infancy, 114Jun 28, 2021
    Arterial calcification, generalized, of infancy, 28Jun 18, 2018
    Arterial tortuosity syndrome6Jan 31, 2019
    Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect6Jul 30, 2020
    Arthrogryposis multiplex congenita 2, neurogenic type1Jul 31, 2020
    Arthrogryposis multiplex congenita 3, myogenic type3Jul 30, 2020
    Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum2Jul 30, 2020
    Arthrogryposis multiplex congenita 53Jul 31, 2020
    Arthrogryposis multiplex congenita 610May 28, 2021
    Arthrogryposis, Perthes disease, and upward gaze palsy1Mar 1, 2021
    Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development2Jan 2, 2019
    Arthrogryposis, distal, IIa 111Aug 25, 2022
    Arthrogryposis, distal, type 1A1May 17, 2019
    Arthrogryposis, distal, type 1B2Aug 22, 2019
    Arthrogryposis, distal, type 1C4Apr 13, 2022
    Arthrogryposis, distal, type 2B22May 17, 2019
    Arthrogryposis, distal, type 2B36May 20, 2019
    Arthrogryposis, distal, type 2B43May 17, 2019
    Arthrogryposis, distal, with impaired proprioception and touch8May 23, 2019
    Arthrogryposis, renal dysfunction, and cholestasis 19Aug 18, 2022
    Arthrogryposis, renal dysfunction, and cholestasis 27Aug 18, 2022
    Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome6Sep 11, 2018
    Arts syndrome4Sep 23, 2016
    Arylsulfatase A pseudodeficiency5Nov 7, 2018
    Arylsulfatase a pseudodeficiency, intermediate1Oct 11, 2016
    Arylsulfatase a pseudodeficiency, severe1Oct 11, 2016
    Arylsulfatase a, allele a1Nov 7, 2018
    Aspartate aminotransferase, serum level of, quantitative trait locus 11Sep 29, 2015
    Aspartylglucosaminuria10Nov 7, 2018
    Aspartylglucosaminuria, finnish type1May 5, 2015
    Asperger syndrome, X-linked, susceptibility to, 11Dec 27, 2017
    Asperger syndrome, X-linked, susceptibility to, 21Sep 22, 2016
    Aspergillosis, susceptibility to2Nov 7, 2018
    Asphyxiating thoracic dystrophy 26Nov 9, 2020
    Asphyxiating thoracic dystrophy 321Jun 19, 2018
    Asphyxiating thoracic dystrophy 44Jun 18, 2018
    Asphyxiating thoracic dystrophy 53May 2, 2022
    Association with systemic lupus erythematosus1Sep 30, 2016
    Asthma and atopy, susceptibility to2Jun 2, 2017
    Asthma and nasal polyps1Nov 29, 2021
    Asthma, aspirin-induced, susceptibility to2Nov 29, 2021
    Asthma, diminished response to antileukotriene treatment in1May 3, 2019
    Asthma, nasal polyps, and aspirin intolerance1Mar 26, 2019
    Asthma, nocturnal, susceptibility to1May 3, 2019
    Asthma, protection against1Oct 5, 2006
    Asthma-related traits, susceptibility to, 12May 30, 2007
    Asthma-related traits, susceptibility to, 21Aug 4, 2016
    Asthma-related traits, susceptibility to, 52Feb 27, 2019
    Asthma-related traits, susceptibility to, 71Nov 12, 2018