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PerkinElmer Genomics, PKIG

General information

PerkinElmer Genomics, PKIG

250 Industry Drive; Suite 400
Pittsburgh
Pennsylvania
United States - 15275-1017
https://www.perkinelmergenomics.com/
Organization ID: 167595

Personnel

View this laboratory in GTR

Assertion criteria

Level: Assertion criteria not provided

    Summary of submissions to ClinVar

    Total submissions: 8892

    Gene

    GeneSubmissionsLast Updated
    A4GALT8Nov 19, 2021
    AAAS62Nov 19, 2021
    AAGAB38Nov 19, 2021
    AARS19Nov 19, 2021
    AARS225Nov 19, 2021
    AASS5Nov 19, 2021
    ABAT6Nov 19, 2021
    ABCA116Nov 19, 2021
    ABCA124Nov 19, 2021
    ABCA32Nov 19, 2021
    ABCA425Nov 19, 2021
    ABCB118Nov 19, 2021
    ABCB43Nov 19, 2021
    ABCC27Nov 19, 2021
    ABCC616Nov 19, 2021
    ABCC87Nov 19, 2021
    ABCC914Nov 19, 2021
    ABCD146Nov 19, 2021
    ABCG51Nov 19, 2021
    ABCG87Nov 19, 2021
    ABHD122Nov 19, 2021
    ABHD51Nov 19, 2021
    ACAD82Nov 19, 2021
    ACAD93Nov 19, 2021
    ACADM14Nov 19, 2021
    ACADS7Nov 19, 2021
    ACADSB4Nov 19, 2021
    ACADVL21Nov 19, 2021
    ACAT14Nov 19, 2021
    ACOX11Nov 19, 2021
    ACOX21Nov 19, 2021
    ACSF39Nov 19, 2021
    ACTA16Nov 19, 2021
    ACTC17Nov 19, 2021
    ACTL6B1Nov 19, 2021
    ACTN22Nov 19, 2021
    ACVRL13Nov 19, 2021
    ADA10Nov 19, 2021
    ADA24Nov 19, 2021
    ADAMTS133Nov 19, 2021
    ADAMTS182Nov 19, 2021
    ADAMTS21Nov 19, 2021
    ADAMTSL21Nov 19, 2021
    ADAMTSL46Nov 19, 2021
    ADAMTSL4-AS25Nov 19, 2021
    ADAR2Nov 19, 2021
    ADAT31Nov 19, 2021
    ADCY51Nov 19, 2021
    ADGRV16Nov 19, 2021
    ADNP1Nov 19, 2021
    ADSL7Nov 19, 2021
    AEBP11Nov 19, 2021
    AGA2Nov 19, 2021
    AGA-DT1Nov 19, 2021
    AGBL51Nov 19, 2021
    AGK1Nov 19, 2021
    AGL10Nov 19, 2021
    AGPAT23Nov 19, 2021
    AGRN1Nov 19, 2021
    AGTPBP12Nov 19, 2021
    AGXT12Nov 19, 2021
    AHCY1Nov 19, 2021
    AHI19Nov 19, 2021
    AIPL12Nov 19, 2021
    AIRE6Nov 19, 2021
    AKR1D12Nov 19, 2021
    ALAS21Nov 19, 2021
    ALB2Nov 19, 2021
    ALDH3A26Nov 19, 2021
    ALDH4A11Nov 19, 2021
    ALDH5A14Nov 19, 2021
    ALDH7A112Nov 19, 2021
    ALDOB5Nov 19, 2021
    ALG15Nov 19, 2021
    ALG122Nov 19, 2021
    ALG31Nov 19, 2021
    ALG62Nov 19, 2021
    ALG81Nov 19, 2021
    ALMS13Nov 19, 2021
    ALOXE33Nov 19, 2021
    ALPK32Nov 19, 2021
    ALPL10Nov 19, 2021
    ALS22Nov 19, 2021
    AMACR1Nov 19, 2021
    AMELX1Nov 19, 2021
    AMER12Nov 19, 2021
    AMH1Nov 19, 2021
    AMHR21Nov 19, 2021
    AMN3Nov 19, 2021
    AMPD12Nov 19, 2021
    AMT6Nov 19, 2021
    ANAPC11Nov 19, 2021
    ANAPC151Nov 19, 2021
    ANGPTL33Nov 19, 2021
    ANK115Nov 19, 2021
    ANKH1Nov 19, 2021
    ANKRD114Nov 19, 2021
    ANKS62Nov 19, 2021
    ANO104Nov 19, 2021
    ANO535Nov 19, 2021
    ANO65Nov 19, 2021
    ANTXR23Nov 19, 2021
    AOPEP8Nov 19, 2021
    AP2M11Nov 19, 2021
    AP3B11Nov 19, 2021
    AP3B22Nov 19, 2021
    AP4M11Nov 19, 2021
    AP4S11Nov 19, 2021
    AP5Z15Nov 19, 2021
    APBB12Nov 19, 2021
    APC13Nov 19, 2021
    APOB21Nov 19, 2021
    APRT3Nov 19, 2021
    APTX2Nov 19, 2021
    AQP21Nov 19, 2021
    AQP5-AS11Nov 19, 2021
    AR4Nov 19, 2021
    ARFGEF11Nov 19, 2021
    ARFGEF22Nov 19, 2021
    ARG12Nov 19, 2021
    ARHGAP61Nov 19, 2021
    ARID1A2Nov 19, 2021
    ARID1B5Nov 19, 2021
    ARMC51Nov 19, 2021
    ARMC92Nov 19, 2021
    ARSA17Nov 19, 2021
    ARSB9Nov 19, 2021
    ARSL2Nov 19, 2021
    ARV11Nov 19, 2021
    ARX1Nov 19, 2021
    ASAH16Nov 19, 2021
    ASCC11Nov 19, 2021
    ASH1L1Nov 19, 2021
    ASIC4-AS12Nov 19, 2021
    ASL8Nov 19, 2021
    ASNS4Nov 19, 2021
    ASPA6Nov 19, 2021
    ASPH1Nov 19, 2021
    ASPM19Nov 19, 2021
    ASS114Nov 19, 2021
    ASTN23Nov 19, 2021
    ASXL33Nov 19, 2021
    ATM72Nov 19, 2021
    ATP13A23Nov 19, 2021
    ATP1A21Nov 19, 2021
    ATP1A35Nov 19, 2021
    ATP2A115Nov 19, 2021
    ATP2A1-AS11Nov 19, 2021
    ATP2A21Nov 19, 2021
    ATP5MK1Nov 19, 2021
    ATP6V0A24Nov 19, 2021
    ATP6V0A43Nov 19, 2021
    ATP6V1B16Nov 19, 2021
    ATP7B35Nov 19, 2021
    ATP8A23Nov 19, 2021
    ATP8B13Nov 19, 2021
    ATR2Nov 19, 2021
    ATRIP3Nov 19, 2021
    ATRIP-TREX13Nov 19, 2021
    ATRX1Nov 19, 2021
    AUTS22Nov 19, 2021
    AVPR21Nov 19, 2021
    AXDND12Nov 19, 2021
    AXIN21Nov 19, 2021
    B3GALNT27Nov 19, 2021
    B3GALT63Nov 19, 2021
    B3GLCT3Nov 19, 2021
    B4GALT71Nov 19, 2021
    BAG346Nov 19, 2021
    BBS13Nov 19, 2021
    BBS104Nov 19, 2021
    BBS124Nov 19, 2021
    BBS24Nov 19, 2021
    BBS43Nov 19, 2021
    BBS51Nov 19, 2021
    BBS72Nov 19, 2021
    BCHE10Nov 19, 2021
    BCKDHA7Nov 19, 2021
    BCKDHB9Nov 19, 2021
    BCL11B1Nov 19, 2021
    BCL2L2-PABPN110Nov 19, 2021
    BCOR3Nov 19, 2021
    BCS1L1Nov 19, 2021
    BEST14Nov 19, 2021
    BICD21Nov 19, 2021
    BIN12Nov 19, 2021
    BIVM-ERCC53Nov 19, 2021
    BLM26Nov 19, 2021
    BLOC1S1-RDH53Nov 19, 2021
    BLTP15Nov 19, 2021
    BMPR1A2Nov 19, 2021
    BOLA31Nov 19, 2021
    BPTF1Nov 19, 2021
    BRAF45Nov 19, 2021
    BRAT18Nov 19, 2021
    BRCA152Nov 19, 2021
    BRCA280Nov 19, 2021
    BRIP129Nov 19, 2021
    BRPF11Nov 19, 2021
    BRWD31Nov 19, 2021
    BSCL21Nov 19, 2021
    BSND3Nov 19, 2021
    BTD16Nov 19, 2021
    BTK3Nov 19, 2021
    BUB1B3Nov 19, 2021
    BVES1Nov 19, 2021
    C11orf6532Nov 19, 2021
    C12orf291Nov 19, 2021
    C12orf601Nov 19, 2021
    C17orf1077Nov 19, 2021
    C19orf124Nov 19, 2021
    C1QC1Nov 19, 2021
    C1QTNF3-AMACR1Nov 19, 2021
    C1QTNF53Nov 19, 2021
    C21Nov 19, 2021
    C2CD36Nov 19, 2021
    C51Nov 19, 2021
    C62Nov 19, 2021
    C8B4Nov 19, 2021
    C95Nov 19, 2021
    CA121Nov 19, 2021
    CA21Nov 19, 2021
    CA5A1Nov 19, 2021
    CABP22Nov 19, 2021
    CACNA1A6Nov 19, 2021
    CACNA1B2Nov 19, 2021
    CACNA1S6Nov 19, 2021
    CACNA2D21Nov 19, 2021
    CACNA2D43Nov 19, 2021
    CALM11Nov 19, 2021
    CAMTA11Nov 19, 2021
    CANT12Nov 19, 2021
    CAPN14Nov 19, 2021
    CAPN376Nov 19, 2021
    CARD141Nov 19, 2021
    CASD13Nov 19, 2021
    CASK2Nov 19, 2021
    CASP81Nov 19, 2021
    CASQ22Nov 19, 2021
    CASR3Nov 19, 2021
    CASTOR31Nov 19, 2021
    CAV314Nov 19, 2021
    CAVIN12Nov 19, 2021
    CBL1Nov 19, 2021
    CBS11Nov 19, 2021
    CC2D1A3Nov 19, 2021
    CC2D2A15Nov 19, 2021
    CCDC1031Nov 19, 2021
    CCDC395Nov 19, 2021
    CCDC405Nov 19, 2021
    CCM21Nov 19, 2021
    CCN63Nov 19, 2021
    CCND21Nov 19, 2021
    CCNH2Nov 19, 2021
    CCNO2Nov 19, 2021
    CD191Nov 19, 2021
    CD271Nov 19, 2021
    CD27-AS11Nov 19, 2021
    CD3618Nov 19, 2021
    CD3E1Nov 19, 2021
    CD3G1Nov 19, 2021
    CDAN13Nov 19, 2021
    CDC451Nov 19, 2021
    CDH17Nov 19, 2021
    CDH234Nov 19, 2021
    CDH33Nov 19, 2021
    CDHR13Nov 19, 2021
    CDK101Nov 19, 2021
    CDK132Nov 19, 2021
    CDK5RAP25Nov 19, 2021
    CDKL53Nov 19, 2021
    CDT14Nov 19, 2021
    CEBPE1Nov 19, 2021
    CENPF6Nov 19, 2021
    CENPJ6Nov 19, 2021
    CEP1042Nov 19, 2021
    CEP1202Nov 19, 2021
    CEP1351Nov 19, 2021
    CEP15210Nov 19, 2021
    CEP29019Nov 19, 2021
    CEP552Nov 19, 2021
    CEP631Nov 19, 2021
    CEP782Nov 19, 2021
    CERKL4Nov 19, 2021
    CERS13Nov 19, 2021
    CERT11Nov 19, 2021
    CETP4Nov 19, 2021
    CFAP3001Nov 19, 2021
    CFAP441Nov 19, 2021
    CFAP581Nov 19, 2021
    CFH4Nov 19, 2021
    CFTR48Nov 19, 2021
    CFTR-AS18Nov 19, 2021
    CHAMP11Nov 19, 2021
    CHAT4Nov 19, 2021
    CHD22Nov 19, 2021
    CHD31Nov 19, 2021
    CHD41Nov 19, 2021
    CHD712Nov 19, 2021
    CHEK221Nov 19, 2021
    CHRNA14Nov 19, 2021
    CHRNB13Nov 19, 2021
    CHRND7Nov 19, 2021
    CHRNE18Nov 19, 2021
    CHRNG4Nov 19, 2021
    CHST143Nov 19, 2021
    CKAP2L1Nov 19, 2021
    CLCN146Nov 19, 2021
    CLCN22Nov 19, 2021
    CLCN53Nov 19, 2021
    CLCN71Nov 19, 2021
    CLCNKB3Nov 19, 2021
    CLDN11Nov 19, 2021
    CLDN162Nov 19, 2021
    CLN31Nov 19, 2021
    CLN52Nov 19, 2021
    CLN63Nov 19, 2021
    CLN81Nov 19, 2021
    CLPB4Nov 19, 2021
    CLRN13Nov 19, 2021
    CLRN1-AS11Nov 19, 2021
    CNGA12Nov 19, 2021
    CNGA37Nov 19, 2021
    CNGB13Nov 19, 2021
    CNGB35Nov 19, 2021
    CNKSR21Nov 19, 2021
    CNTNAP11Nov 19, 2021
    CNTNAP23Nov 19, 2021
    COASY2Nov 19, 2021
    COG11Nov 19, 2021
    COG41Nov 19, 2021
    COG71Nov 19, 2021
    COL10A11Nov 19, 2021
    COL11A13Nov 19, 2021
    COL11A25Nov 19, 2021
    COL12A13Nov 19, 2021
    COL13A12Nov 19, 2021
    COL17A14Nov 19, 2021
    COL18A15Nov 19, 2021
    COL1A116Nov 19, 2021
    COL1A213Nov 19, 2021
    COL25A11Nov 19, 2021
    COL27A12Nov 19, 2021
    COL2A17Nov 19, 2021
    COL3A11Nov 19, 2021
    COL4A16Nov 19, 2021
    COL4A310Nov 19, 2021
    COL4A410Nov 19, 2021
    COL4A57Nov 19, 2021
    COL5A11Nov 19, 2021
    COL5A22Nov 19, 2021
    COL6A129Nov 19, 2021
    COL6A221Nov 19, 2021
    COL6A315Nov 19, 2021
    COL7A121Nov 19, 2021
    COL9A14Nov 19, 2021
    COL9A32Nov 19, 2021
    COLQ10Nov 19, 2021
    COMP1Nov 19, 2021
    COQ22Nov 19, 2021
    COQ43Nov 19, 2021
    COQ62Nov 19, 2021
    COQ8A3Nov 19, 2021
    COQ8B1Nov 19, 2021
    COQ92Nov 19, 2021
    COX101Nov 19, 2021
    CP4Nov 19, 2021
    CPAMD82Nov 19, 2021
    CPEB1-AS12Nov 19, 2021
    CPLANE12Nov 19, 2021
    CPOX2Nov 19, 2021
    CPS14Nov 19, 2021
    CPT1A1Nov 19, 2021
    CPT29Nov 19, 2021
    CR21Nov 19, 2021
    CRB16Nov 19, 2021
    CRB24Nov 19, 2021
    CREB3L11Nov 19, 2021
    CREBBP3Nov 19, 2021
    CRLF12Nov 19, 2021
    CRPPA6Nov 19, 2021
    CRPPA-AS11Nov 19, 2021
    CRTAP2Nov 19, 2021
    CRYAA2Nov 19, 2021
    CRYAB15Nov 19, 2021
    CRYBA11Nov 19, 2021
    CRYBA41Nov 19, 2021
    CRYBB11Nov 19, 2021
    CSF1R3Nov 19, 2021
    CSF3R1Nov 19, 2021
    CSPP17Nov 19, 2021
    CSRP312Nov 19, 2021
    CSTA1Nov 19, 2021
    CSTB3Nov 19, 2021
    CTBP11Nov 19, 2021
    CTBP1-AS1Nov 19, 2021
    CTC110Nov 19, 2021
    CTCF1Nov 19, 2021
    CTNNB11Nov 19, 2021
    CTNND11Nov 19, 2021
    CTNS4Nov 19, 2021
    CTNS-AS11Nov 19, 2021
    CTPS11Nov 19, 2021
    CTSA4Nov 19, 2021
    CTSC1Nov 19, 2021
    CTSD1Nov 19, 2021
    CTSF3Nov 19, 2021
    CTSK1Nov 19, 2021
    CTXN2-AS11Nov 19, 2021
    CUBN10Nov 19, 2021
    CUL31Nov 19, 2021
    CUL4B1Nov 19, 2021
    CUL72Nov 19, 2021
    CUX11Nov 19, 2021
    CWC272Nov 19, 2021
    CWF19L11Nov 19, 2021
    CYB5R31Nov 19, 2021
    CYBA3Nov 19, 2021
    CYBB4Nov 19, 2021
    CYLD1Nov 19, 2021
    CYP11A11Nov 19, 2021
    CYP11B14Nov 19, 2021
    CYP11B23Nov 19, 2021
    CYP17A12Nov 19, 2021
    CYP1B18Nov 19, 2021
    CYP21A210Nov 19, 2021
    CYP24A15Nov 19, 2021
    CYP27A111Nov 19, 2021
    CYP27B15Nov 19, 2021
    CYP2R11Nov 19, 2021
    CYP2U11Nov 19, 2021
    CYP4F221Nov 19, 2021
    CYP4V24Nov 19, 2021
    CYP7B11Nov 19, 2021
    CZ1P-ASNS4Nov 19, 2021
    DAG11Nov 19, 2021
    DARS22Nov 19, 2021
    DBH2Nov 19, 2021
    DBT4Nov 19, 2021
    DCAF171Nov 19, 2021
    DCC1Nov 19, 2021
    DCDC22Nov 19, 2021
    DCHS11Nov 19, 2021
    DCLRE1C3Nov 19, 2021
    DCX1Nov 19, 2021
    DDC5Nov 19, 2021
    DDC-AS11Nov 19, 2021
    DDHD21Nov 19, 2021
    DDX111Nov 19, 2021
    DDX3X4Nov 19, 2021
    DDX591Nov 19, 2021
    DEAF11Nov 19, 2021
    DEPDC52Nov 19, 2021
    DES56Nov 19, 2021
    DGAT11Nov 19, 2021
    DGKE2Nov 19, 2021
    DGUOK8Nov 19, 2021
    DHCR713Nov 19, 2021
    DHDDS1Nov 19, 2021
    DHODH2Nov 19, 2021
    DHPS1Nov 19, 2021
    DHTKD15Nov 19, 2021
    DIPK1A1Nov 19, 2021
    DLD2Nov 19, 2021
    DLG41Nov 19, 2021
    DLL33Nov 19, 2021
    DMD910Nov 19, 2021
    DMP12Nov 19, 2021
    DNA23Nov 19, 2021
    DNAAF11Nov 19, 2021
    DNAAF115Nov 19, 2021
    DNAAF23Nov 19, 2021
    DNAAF35Nov 19, 2021
    DNAAF3-AS15Nov 19, 2021
    DNAH12Nov 19, 2021
    DNAH1110Nov 19, 2021
    DNAH513Nov 19, 2021
    DNAH911Nov 19, 2021
    DNAI13Nov 19, 2021
    DNAJB21Nov 19, 2021
    DNAJB64Nov 19, 2021
    DNAJC122Nov 19, 2021
    DNAJC195Nov 19, 2021
    DNAJC301Nov 19, 2021
    DNM11Nov 19, 2021
    DNM1L1Nov 19, 2021
    DNM25Nov 19, 2021
    DNMT3A3Nov 19, 2021
    DNMT3B2Nov 19, 2021
    DOCK67Nov 19, 2021
    DOCK73Nov 19, 2021
    DOCK84Nov 19, 2021
    DOK711Nov 19, 2021
    DOP1A1Nov 19, 2021
    DPH12Nov 19, 2021
    DPY19L21Nov 19, 2021
    DPYD6Nov 19, 2021
    DPYS3Nov 19, 2021
    DRAM21Nov 19, 2021
    DRC12Nov 19, 2021
    DSC216Nov 19, 2021
    DSCAS1Nov 19, 2021
    DSG1-AS13Nov 19, 2021
    DSG222Nov 19, 2021
    DSG43Nov 19, 2021
    DSP1Nov 19, 2021
    DST6Nov 19, 2021
    DUOX216Nov 19, 2021
    DUSP291Nov 19, 2021
    DYM1Nov 19, 2021
    DYNC1H11Nov 19, 2021
    DYNC1I22Nov 19, 2021
    DYNC2H113Nov 19, 2021
    DYNC2I24Nov 19, 2021
    DYNC2LI11Nov 19, 2021
    DYSF90Nov 19, 2021
    EBF31Nov 19, 2021
    EBP2Nov 19, 2021
    ECEL11Nov 19, 2021
    ECHS17Nov 19, 2021
    ECM14Nov 19, 2021
    EDA3Nov 19, 2021
    EDAR3Nov 19, 2021
    EDARADD1Nov 19, 2021
    EEF1A21Nov 19, 2021
    EFEMP21Nov 19, 2021
    EFNB12Nov 19, 2021
    EFTUD22Nov 19, 2021
    EHMT11Nov 19, 2021
    EIF2AK31Nov 19, 2021
    EIF2AK43Nov 19, 2021
    EIF2B11Nov 19, 2021
    EIF2B24Nov 19, 2021
    EIF2B41Nov 19, 2021
    EIF2B54Nov 19, 2021
    ELAC21Nov 19, 2021
    ELN2Nov 19, 2021
    ELP11Nov 19, 2021
    EMC12Nov 19, 2021
    EMC1-AS12Nov 19, 2021
    EMC101Nov 19, 2021
    EMD3Nov 19, 2021
    EME21Nov 19, 2021
    ENAM1Nov 19, 2021
    ENG2Nov 19, 2021
    ENPP13Nov 19, 2021
    ENTPD52Nov 19, 2021
    EOGT2Nov 19, 2021
    EP3002Nov 19, 2021
    EPB412Nov 19, 2021
    EPB421Nov 19, 2021
    EPCAM3Nov 19, 2021
    EPG53Nov 19, 2021
    EPHB43Nov 19, 2021
    EPM2A3Nov 19, 2021
    EPM2A-DT1Nov 19, 2021
    ERCC11Nov 19, 2021
    ERCC28Nov 19, 2021
    ERCC32Nov 19, 2021
    ERCC41Nov 19, 2021
    ERCC53Nov 19, 2021
    ERCC65Nov 19, 2021
    ERCC6-PGBD31Nov 19, 2021
    ERCC6L22Nov 19, 2021
    ERCC81Nov 19, 2021
    ESCO23Nov 19, 2021
    ETFA4Nov 19, 2021
    ETFB1Nov 19, 2021
    ETFDH8Nov 19, 2021
    EVC5Nov 19, 2021
    EVC29Nov 19, 2021
    EXOSC35Nov 19, 2021
    EXPH53Nov 19, 2021
    EXT11Nov 19, 2021
    EXT22Nov 19, 2021
    EYA415Nov 19, 2021
    EYS17Nov 19, 2021
    F119Nov 19, 2021
    F11-AS12Nov 19, 2021
    F122Nov 19, 2021
    F13A11Nov 19, 2021
    F13B2Nov 19, 2021
    F22Nov 19, 2021
    F52Nov 19, 2021
    F74Nov 19, 2021
    F83Nov 19, 2021
    F92Nov 19, 2021
    FA2H1Nov 19, 2021
    FAH7Nov 19, 2021
    FAM111A1Nov 19, 2021
    FAM161A5Nov 19, 2021
    FAM20A5Nov 19, 2021
    FAM83H1Nov 19, 2021
    FAN11Nov 19, 2021
    FANCA41Nov 19, 2021
    FANCC14Nov 19, 2021
    FANCD230Nov 19, 2021
    FANCD2OS8Nov 19, 2021
    FANCE4Nov 19, 2021
    FANCG3Nov 19, 2021
    FANCI5Nov 19, 2021
    FANCL1Nov 19, 2021
    FANCM3Nov 19, 2021
    FBN114Nov 19, 2021
    FBP13Nov 19, 2021
    FBXL32Nov 19, 2021
    FBXL43Nov 19, 2021
    FECH1Nov 19, 2021
    FERMT11Nov 19, 2021
    FERMT31Nov 19, 2021
    FGA3Nov 19, 2021
    FGB1Nov 19, 2021
    FGF101Nov 19, 2021
    FGFR24Nov 19, 2021
    FGFR38Nov 19, 2021
    FGG1Nov 19, 2021
    FH109Nov 19, 2021
    FHL16Nov 19, 2021
    FIG47Nov 19, 2021
    FKBP101Nov 19, 2021
    FKRP12Nov 19, 2021
    FKTN8Nov 19, 2021
    FLAD11Nov 19, 2021
    FLG14Nov 19, 2021
    FLG-AS12Nov 19, 2021
    FLG21Nov 19, 2021
    FLNA3Nov 19, 2021
    FLNB1Nov 19, 2021
    FLNC10Nov 19, 2021
    FLNC-AS16Nov 19, 2021
    FLVCR12Nov 19, 2021
    FMN22Nov 19, 2021
    FMO35Nov 19, 2021
    FOLR11Nov 19, 2021
    FOXC11Nov 19, 2021
    FOXC21Nov 19, 2021
    FOXC2-AS11Nov 19, 2021
    FOXE31Nov 19, 2021
    FOXF12Nov 19, 2021
    FOXG12Nov 19, 2021
    FOXN11Nov 19, 2021
    FOXRED11Nov 19, 2021
    FRAS110Nov 19, 2021
    FREM16Nov 19, 2021
    FREM24Nov 19, 2021
    FRMD72Nov 19, 2021
    FRRS1L1Nov 19, 2021
    FTCD2Nov 19, 2021
    FUCA11Nov 19, 2021
    FUS1Nov 19, 2021
    FYCO13Nov 19, 2021
    FZD41Nov 19, 2021
    G6PC17Nov 19, 2021
    G6PC31Nov 19, 2021
    G6PD13Nov 19, 2021
    GAA162Nov 19, 2021
    GABRB31Nov 19, 2021
    GABRG21Nov 19, 2021
    GALC33Nov 19, 2021
    GALE2Nov 19, 2021
    GALK15Nov 19, 2021
    GALNS20Nov 19, 2021
    GALNT31Nov 19, 2021
    GALT10Nov 19, 2021
    GAMT10Nov 19, 2021
    GAN2Nov 19, 2021
    GAREM21Nov 19, 2021
    GAS2L21Nov 19, 2021
    GAS81Nov 19, 2021
    GATA21Nov 19, 2021
    GATA31Nov 19, 2021
    GATA61Nov 19, 2021
    GATAD13Nov 19, 2021
    GATAD2B1Nov 19, 2021
    GBA136Nov 19, 2021
    GBE18Nov 19, 2021
    GCDH20Nov 19, 2021
    GCH12Nov 19, 2021
    GCK4Nov 19, 2021
    GCM22Nov 19, 2021
    GDAP12Nov 19, 2021
    GDAP21Nov 19, 2021
    GDF13Nov 19, 2021
    GFAP1Nov 19, 2021
    GFM15Nov 19, 2021
    GFM21Nov 19, 2021
    GH-LCR19Nov 19, 2021
    GH11Nov 19, 2021
    GHR1Nov 19, 2021
    GHRHR1Nov 19, 2021
    GJA81Nov 19, 2021
    GJB12Nov 19, 2021
    GJB225Nov 19, 2021
    GJC22Nov 19, 2021
    GJD2-DT7Nov 19, 2021
    GLA89Nov 19, 2021
    GLB114Nov 19, 2021
    GLDC17Nov 19, 2021
    GLDN3Nov 19, 2021
    GLE13Nov 19, 2021
    GLI23Nov 19, 2021
    GLI31Nov 19, 2021
    GLMN4Nov 19, 2021
    GLRA13Nov 19, 2021
    GM2A1Nov 19, 2021
    GML5Nov 19, 2021
    GMPPA1Nov 19, 2021
    GMPPB14Nov 19, 2021
    GNAO12Nov 19, 2021
    GNAS1Nov 19, 2021
    GNB11Nov 19, 2021
    GNB51Nov 19, 2021
    GNE23Nov 19, 2021
    GNPAT1Nov 19, 2021
    GNPTAB7Nov 19, 2021
    GNPTG2Nov 19, 2021
    GNRHR4Nov 19, 2021
    GNS2Nov 19, 2021
    GORAB2Nov 19, 2021
    GOSR24Nov 19, 2021
    GP1BA3Nov 19, 2021
    GP1BB1Nov 19, 2021
    GP61Nov 19, 2021
    GP91Nov 19, 2021
    GPAA13Nov 19, 2021
    GPC31Nov 19, 2021
    GPHN4Nov 19, 2021
    GPI3Nov 19, 2021
    GPLD11Nov 19, 2021
    GPNMB3Nov 19, 2021
    GPR1431Nov 19, 2021
    GPR1792Nov 19, 2021
    GPSM23Nov 19, 2021
    GPT21Nov 19, 2021
    GPX41Nov 19, 2021
    GRHL21Nov 19, 2021
    GRHPR6Nov 19, 2021
    GRIN2B1Nov 19, 2021
    GRM64Nov 19, 2021
    GRN3Nov 19, 2021
    GSDME1Nov 19, 2021
    GSS1Nov 19, 2021
    GTF3C2-AS21Nov 19, 2021
    GTPBP22Nov 19, 2021
    GTPBP32Nov 19, 2021
    GUCY1A11Nov 19, 2021
    GUCY2C1Nov 19, 2021
    GUCY2D2Nov 19, 2021
    GUSB10Nov 19, 2021
    GYG13Nov 19, 2021
    GYS13Nov 19, 2021
    GYS23Nov 19, 2021
    H6PD1Nov 19, 2021
    HACE12Nov 19, 2021
    HADH2Nov 19, 2021
    HADHA2Nov 19, 2021
    HADHB2Nov 19, 2021
    HAX11Nov 19, 2021
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    SCO22Nov 19, 2021
    SCYL11Nov 19, 2021
    SDCCAG82Nov 19, 2021
    SDHA5Nov 19, 2021
    SDHAF21Nov 19, 2021
    SDHB4Nov 19, 2021
    SDHC1Nov 19, 2021
    SDHD1Nov 19, 2021
    SEC23B9Nov 19, 2021
    SEC632Nov 19, 2021
    SECISBP21Nov 19, 2021
    SELENON14Nov 19, 2021
    SEPT5-GP1BB1Nov 19, 2021
    SERAC15Nov 19, 2021
    SERPINA15Nov 19, 2021
    SERPINA61Nov 19, 2021
    SERPINA71Nov 19, 2021
    SERPINB61Nov 19, 2021
    SERPINB73Nov 19, 2021
    SERPINB81Nov 19, 2021
    SERPINC12Nov 19, 2021
    SET1Nov 19, 2021
    SETBP13Nov 19, 2021
    SETD21Nov 19, 2021
    SETD56Nov 19, 2021
    SETX3Nov 19, 2021
    SF3B41Nov 19, 2021
    SFTA31Nov 19, 2021
    SFTPB2Nov 19, 2021
    SFTPC1Nov 19, 2021
    SFXN42Nov 19, 2021
    SGCA18Nov 19, 2021
    SGCB11Nov 19, 2021
    SGCD2Nov 19, 2021
    SGCE6Nov 19, 2021
    SGCG10Nov 19, 2021
    SGSH7Nov 19, 2021
    SH3PXD2B2Nov 19, 2021
    SH3TC25Nov 19, 2021
    SHANK34Nov 19, 2021
    SHH2Nov 19, 2021
    SI6Nov 19, 2021
    SIL15Nov 19, 2021
    SIN3A1Nov 19, 2021
    SKIC24Nov 19, 2021
    SKIC35Nov 19, 2021
    SLC12A12Nov 19, 2021
    SLC12A312Nov 19, 2021
    SLC12A51Nov 19, 2021
    SLC16A11Nov 19, 2021
    SLC17A55Nov 19, 2021
    SLC19A14Nov 19, 2021
    SLC19A33Nov 19, 2021
    SLC20A22Nov 19, 2021
    SLC22A123Nov 19, 2021
    SLC22A516Nov 19, 2021
    SLC25A12Nov 19, 2021
    SLC25A135Nov 19, 2021
    SLC25A152Nov 19, 2021
    SLC25A203Nov 19, 2021
    SLC25A382Nov 19, 2021
    SLC25A421Nov 19, 2021
    SLC26A113Nov 19, 2021
    SLC26A26Nov 19, 2021
    SLC26A32Nov 19, 2021
    SLC26A425Nov 19, 2021
    SLC26A4-AS13Nov 19, 2021
    SLC27A41Nov 19, 2021
    SLC2A16Nov 19, 2021
    SLC2A105Nov 19, 2021
    SLC2A22Nov 19, 2021
    SLC2A91Nov 19, 2021
    SLC30A101Nov 19, 2021
    SLC34A15Nov 19, 2021
    SLC34A21Nov 19, 2021
    SLC34A33Nov 19, 2021
    SLC35C11Nov 19, 2021
    SLC35D11Nov 19, 2021
    SLC37A41Nov 19, 2021
    SLC38A81Nov 19, 2021
    SLC39A41Nov 19, 2021
    SLC39A51Nov 19, 2021
    SLC39A81Nov 19, 2021
    SLC3A14Nov 19, 2021
    SLC45A11Nov 19, 2021
    SLC45A24Nov 19, 2021
    SLC46A11Nov 19, 2021
    SLC4A112Nov 19, 2021
    SLC52A22Nov 19, 2021
    SLC52A32Nov 19, 2021
    SLC5A11Nov 19, 2021
    SLC5A24Nov 19, 2021
    SLC5A61Nov 19, 2021
    SLC6A13Nov 19, 2021
    SLC6A192Nov 19, 2021
    SLC6A31Nov 19, 2021
    SLC6A53Nov 19, 2021
    SLC7A72Nov 19, 2021
    SLC7A97Nov 19, 2021
    SLC9A62Nov 19, 2021
    SLCO2A11Nov 19, 2021
    SLFN141Nov 19, 2021
    SLITRK61Nov 19, 2021
    SLURP11Nov 19, 2021
    SLX44Nov 19, 2021
    SMAD61Nov 19, 2021
    SMAD92Nov 19, 2021
    SMARCA21Nov 19, 2021
    SMARCA41Nov 19, 2021
    SMARCAL13Nov 19, 2021
    SMARCB13Nov 19, 2021
    SMARCD21Nov 19, 2021
    SMC1A1Nov 19, 2021
    SMCHD112Nov 19, 2021
    SMOC12Nov 19, 2021
    SMPD119Nov 19, 2021
    SMPD41Nov 19, 2021
    SNHG142Nov 19, 2021
    SNHG312Nov 19, 2021
    SNX141Nov 19, 2021
    SOD13Nov 19, 2021
    SON4Nov 19, 2021
    SORD1Nov 19, 2021
    SOS16Nov 19, 2021
    SOX101Nov 19, 2021
    SOX111Nov 19, 2021
    SOX21Nov 19, 2021
    SOX2-OT1Nov 19, 2021
    SOX91Nov 19, 2021
    SP1102Nov 19, 2021
    SP1401Nov 19, 2021
    SPAG19Nov 19, 2021
    SPART2Nov 19, 2021
    SPATA226Nov 19, 2021
    SPATA54Nov 19, 2021
    SPATA73Nov 19, 2021
    SPEG1Nov 19, 2021
    SPG1111Nov 19, 2021
    SPG211Nov 19, 2021
    SPG714Nov 19, 2021
    SPINK11Nov 19, 2021
    SPINK57Nov 19, 2021
    SPR2Nov 19, 2021
    SPTA113Nov 19, 2021
    SPTAN11Nov 19, 2021
    SPTB19Nov 19, 2021
    SPTBN21Nov 19, 2021
    SQSTM13Nov 19, 2021
    SRCAP1Nov 19, 2021
    SRD5A33Nov 19, 2021
    SRFBP11Nov 19, 2021
    SSUH22Nov 19, 2021
    ST141Nov 19, 2021
    ST3GAL55Nov 19, 2021
    STAC31Nov 19, 2021
    STAG12Nov 19, 2021
    STAG23Nov 19, 2021
    STAG33Nov 19, 2021
    STAMBP1Nov 19, 2021
    STAR6Nov 19, 2021
    STAT11Nov 19, 2021
    STAT31Nov 19, 2021
    STIM11Nov 19, 2021
    STON1-GTF2A1L1Nov 19, 2021
    STRADA1Nov 19, 2021
    STRC6Nov 19, 2021
    STS2Nov 19, 2021
    STX31Nov 19, 2021
    STXBP14Nov 19, 2021
    STXBP21Nov 19, 2021
    SUCLA22Nov 19, 2021
    SUCLG11Nov 19, 2021
    SUGCT1Nov 19, 2021
    SUMF16Nov 19, 2021
    SUN52Nov 19, 2021
    SUOX1Nov 19, 2021
    SURF110Nov 19, 2021
    SYCE25Nov 19, 2021
    SYN12Nov 19, 2021
    SYNE125Nov 19, 2021
    SYNE1-AS11Nov 19, 2021
    SYNGAP16Nov 19, 2021
    SYNGAP1-AS15Nov 19, 2021
    SYNJ12Nov 19, 2021
    SZT22Nov 19, 2021
    SZT2-AS11Nov 19, 2021
    TAB21Nov 19, 2021
    TACR31Nov 19, 2021
    TACSTD21Nov 19, 2021
    TALDO12Nov 19, 2021
    TANC21Nov 19, 2021
    TANGO21Nov 19, 2021
    TAPT11Nov 19, 2021
    TARDBP1Nov 19, 2021
    TARID6Nov 19, 2021
    TARS21Nov 19, 2021
    TBC1D233Nov 19, 2021
    TBC1D241Nov 19, 2021
    TBCD3Nov 19, 2021
    TBCE4Nov 19, 2021
    TBCEL-TECTA2Nov 19, 2021
    TBCK5Nov 19, 2021
    TBL1XR11Nov 19, 2021
    TBX192Nov 19, 2021
    TBX51Nov 19, 2021
    TBX63Nov 19, 2021
    TCAP1Nov 19, 2021
    TCF121Nov 19, 2021
    TCF201Nov 19, 2021
    TCF43Nov 19, 2021
    TCIRG13Nov 19, 2021
    TCN21Nov 19, 2021
    TCOF11Nov 19, 2021
    TCTN13Nov 19, 2021
    TCTN23Nov 19, 2021
    TDP22Nov 19, 2021
    TECPR23Nov 19, 2021
    TECTA2Nov 19, 2021
    TELO22Nov 19, 2021
    TFG1Nov 19, 2021
    TFR23Nov 19, 2021
    TG4Nov 19, 2021
    TGFBR22Nov 19, 2021
    TGM15Nov 19, 2021
    TGM56Nov 19, 2021
    TGM61Nov 19, 2021
    TH4Nov 19, 2021
    TH2-LCR3Nov 19, 2021
    TH2LCRR3Nov 19, 2021
    THOC62Nov 19, 2021
    THRB1Nov 19, 2021
    TIA11Nov 19, 2021
    TINF22Nov 19, 2021
    TJP22Nov 19, 2021
    TK22Nov 19, 2021
    TKT1Nov 19, 2021
    TLK22Nov 19, 2021
    TMC13Nov 19, 2021
    TMC81Nov 19, 2021
    TMCO11Nov 19, 2021
    TMEM126B2Nov 19, 2021
    TMEM2162Nov 19, 2021
    TMEM2312Nov 19, 2021
    TMEM2373Nov 19, 2021
    TMEM2603Nov 19, 2021
    TMEM38B1Nov 19, 2021
    TMEM6710Nov 19, 2021
    TMPPE1Nov 19, 2021
    TMPRSS153Nov 19, 2021
    TMPRSS36Nov 19, 2021
    TMPRSS61Nov 19, 2021
    TMX2-CTNND11Nov 19, 2021
    TNFAIP31Nov 19, 2021
    TNFRSF13B5Nov 19, 2021
    TNNI34Nov 19, 2021
    TNNT11Nov 19, 2021
    TNNT217Nov 19, 2021
    TNPO32Nov 19, 2021
    TNXB8Nov 19, 2021
    TOE12Nov 19, 2021
    TOMT1Nov 19, 2021
    TONSL3Nov 19, 2021
    TONSL-AS12Nov 19, 2021
    TOP3A1Nov 19, 2021
    TOR1A2Nov 19, 2021
    TOR1AIP11Nov 19, 2021
    TP538Nov 19, 2021
    TP53BP12Nov 19, 2021
    TP632Nov 19, 2021
    TPK11Nov 19, 2021
    TPM11Nov 19, 2021
    TPM22Nov 19, 2021
    TPM31Nov 19, 2021
    TPO4Nov 19, 2021
    TPP112Nov 19, 2021
    TPR1Nov 19, 2021
    TPRN3Nov 19, 2021
    TRAPPC118Nov 19, 2021
    TRAPPC92Nov 19, 2021
    TRDN8Nov 19, 2021
    TREX13Nov 19, 2021
    TRIM323Nov 19, 2021
    TRIM371Nov 19, 2021
    TRIM59-IFT802Nov 19, 2021
    TRIO1Nov 19, 2021
    TRIOBP4Nov 19, 2021
    TRIP115Nov 19, 2021
    TRIP43Nov 19, 2021
    TRIT12Nov 19, 2021
    TRMT11Nov 19, 2021
    TRMU1Nov 19, 2021
    TRNT13Nov 19, 2021
    TRPM15Nov 19, 2021
    TRPM61Nov 19, 2021
    TRPS11Nov 19, 2021
    TRPV41Nov 19, 2021
    TRPV61Nov 19, 2021
    TSC13Nov 19, 2021
    TSC27Nov 19, 2021
    TSEN544Nov 19, 2021
    TSFM2Nov 19, 2021
    TSPAN16Nov 19, 2021
    TSPEAR1Nov 19, 2021
    TTBK21Nov 19, 2021
    TTC141Nov 19, 2021
    TTC191Nov 19, 2021
    TTC21A1Nov 19, 2021
    TTC21B7Nov 19, 2021
    TTC21B-AS11Nov 19, 2021
    TTC7A2Nov 19, 2021
    TTLL55Nov 19, 2021
    TTN112Nov 19, 2021
    TTN-AS1110Nov 19, 2021
    TTPA2Nov 19, 2021
    TTR2Nov 19, 2021
    TUBB31Nov 19, 2021
    TUBB4A4Nov 19, 2021
    TUBGCP42Nov 19, 2021
    TUBGCP62Nov 19, 2021
    TULP11Nov 19, 2021
    TUSC31Nov 19, 2021
    TWIST21Nov 19, 2021
    TXNL4A1Nov 19, 2021
    TYMP8Nov 19, 2021
    TYR15Nov 19, 2021
    TYRP15Nov 19, 2021
    UBA52Nov 19, 2021
    UBE2T1Nov 19, 2021
    UBE3A2Nov 19, 2021
    UBE3B5Nov 19, 2021
    UBR12Nov 19, 2021
    UGDH2Nov 19, 2021
    UGT1A2Nov 19, 2021
    UGT1A12Nov 19, 2021
    UGT1A102Nov 19, 2021
    UGT1A32Nov 19, 2021
    UGT1A42Nov 19, 2021
    UGT1A52Nov 19, 2021
    UGT1A62Nov 19, 2021
    UGT1A72Nov 19, 2021
    UGT1A82Nov 19, 2021
    UGT1A92Nov 19, 2021
    UNC13D6Nov 19, 2021
    UNC807Nov 19, 2021
    UNG1Nov 19, 2021
    UPB14Nov 19, 2021
    UPF3B2Nov 19, 2021
    UQCRC21Nov 19, 2021
    UROD1Nov 19, 2021
    UROS1Nov 19, 2021
    USH1C2Nov 19, 2021
    USH1G2Nov 19, 2021
    USH2A26Nov 19, 2021
    USH2A-AS12Nov 19, 2021
    USH2A-AS21Nov 19, 2021
    USP9X1Nov 19, 2021
    VAPB1Nov 19, 2021
    VCP6Nov 19, 2021
    VHL3Nov 19, 2021
    VLDLR1Nov 19, 2021
    VPS13A4Nov 19, 2021
    VPS13A-AS11Nov 19, 2021
    VPS13B13Nov 19, 2021
    VPS13C7Nov 19, 2021
    VPS33B2Nov 19, 2021
    VRK12Nov 19, 2021
    VRK21Nov 19, 2021
    VSX21Nov 19, 2021
    VWF9Nov 19, 2021
    WAC4Nov 19, 2021
    WAS3Nov 19, 2021
    WASHC51Nov 19, 2021
    WDPCP1Nov 19, 2021
    WDR111Nov 19, 2021
    WDR191Nov 19, 2021
    WDR356Nov 19, 2021
    WDR452Nov 19, 2021
    WDR626Nov 19, 2021
    WDR721Nov 19, 2021
    WDR731Nov 19, 2021
    WDR811Nov 19, 2021
    WFS12Nov 19, 2021
    WHRN1Nov 19, 2021
    WNK11Nov 19, 2021
    WNT10A6Nov 19, 2021
    WNT10B1Nov 19, 2021
    WRN5Nov 19, 2021
    WT14Nov 19, 2021
    WWOX1Nov 19, 2021
    XDH3Nov 19, 2021
    XIAP1Nov 19, 2021
    XPC3Nov 19, 2021
    XRCC41Nov 19, 2021
    YY11Nov 19, 2021
    ZAP701Nov 19, 2021
    ZBTB181Nov 19, 2021
    ZC4H21Nov 19, 2021
    ZDHHC241Nov 19, 2021
    ZEB27Nov 19, 2021
    ZFP573Nov 19, 2021
    ZFPM21Nov 19, 2021
    ZFYVE264Nov 19, 2021
    ZMPSTE244Nov 19, 2021
    ZMYND101Nov 19, 2021
    ZMYND151Nov 19, 2021
    ZNF181Nov 19, 2021
    ZNF2767Nov 19, 2021
    ZNF2921Nov 19, 2021
    ZNF3353Nov 19, 2021
    ZNF4543Nov 19, 2021
    ZNF4691Nov 19, 2021
    ZNF6871Nov 19, 2021
    ZSWIM61Nov 19, 2021

    Condition

    NameSubmissionsLast Updated
    3 beta-Hydroxysteroid dehydrogenase deficiency4Nov 19, 2021
    3-hydroxy-3-methylglutaryl-CoA synthase deficiency1Nov 19, 2021
    3-methylcrotonyl-CoA carboxylase 1 deficiency6Nov 19, 2021
    3-methylcrotonyl-CoA carboxylase 2 deficiency8Nov 19, 2021
    3-methylglutaconic aciduria type 55Nov 19, 2021
    3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia4Nov 19, 2021
    3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome5Nov 19, 2021
    3M syndrome 12Nov 19, 2021
    3M syndrome 23Nov 19, 2021
    46,XX ovarian dysgenesis-short stature syndrome1Nov 19, 2021
    5-Oxoprolinase deficiency2Nov 19, 2021
    6-Pyruvoyl-tetrahydrobiopterin synthase deficiency4Nov 19, 2021
    8q24.3 microdeletion syndrome3Nov 19, 2021
    ACTH-independent macronodular adrenal hyperplasia 21Nov 19, 2021
    ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder1Nov 19, 2021
    ALG1-congenital disorder of glycosylation5Nov 19, 2021
    ALG12-congenital disorder of glycosylation2Nov 19, 2021
    ALG3-congenital disorder of glycosylation1Nov 19, 2021
    ALG6-congenital disorder of glycosylation 1C2Nov 19, 2021
    Abetalipoproteinaemia2Nov 19, 2021
    Achromatopsia 27Nov 19, 2021
    Achromatopsia 35Nov 19, 2021
    Acral peeling skin syndrome6Nov 19, 2021
    Acroerythrokeratoderma1Nov 19, 2021
    Action myoclonus-renal failure syndrome4Nov 19, 2021
    Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins1Nov 19, 2021
    Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome1Nov 19, 2021
    Acute intermittent porphyria3Nov 19, 2021
    Acyl-CoA dehydrogenase 9 deficiency3Nov 19, 2021
    Adams-Oliver syndrome 27Nov 19, 2021
    Adams-Oliver syndrome 42Nov 19, 2021
    Adenine phosphoribosyltransferase deficiency3Nov 19, 2021
    Adenylosuccinate lyase deficiency7Nov 19, 2021
    Aicardi-Goutieres syndrome 23Nov 19, 2021
    Aicardi-Goutieres syndrome 31Nov 19, 2021
    Aicardi-Goutieres syndrome 41Nov 19, 2021
    Al Kaissi syndrome1Nov 19, 2021
    Alacrima, achalasia, and intellectual disability syndrome1Nov 19, 2021
    Alexander disease1Nov 19, 2021
    Alkaptonuria2Nov 19, 2021
    Alkuraya-Kucinskas syndrome5Nov 19, 2021
    Alpha-1-antitrypsin deficiency5Nov 19, 2021
    Alstrom syndrome3Nov 19, 2021
    Alveolar capillary dysplasia with pulmonary venous misalignment2Nov 19, 2021
    Amelocerebrohypohidrotic syndrome1Nov 19, 2021
    Amelogenesis imperfecta hypomaturation type 2A31Nov 19, 2021
    Amelogenesis imperfecta type 1E1Nov 19, 2021
    Amelogenesis imperfecta type 1G5Nov 19, 2021
    Amelogenesis imperfecta, hypocalcification type1Nov 19, 2021
    Amyloidosis, primary localized cutaneous, 33Nov 19, 2021
    Amyotrophic lateral sclerosis type 101Nov 19, 2021
    Amyotrophic lateral sclerosis type 211Nov 19, 2021
    Anauxetic dysplasia 21Nov 19, 2021
    Anemia, congenital dyserythropoietic, type 1a3Nov 19, 2021
    Anemia, nonspherocytic hemolytic, due to G6PD deficiency13Nov 19, 2021
    Angelman syndrome2Nov 19, 2021
    Anophthalmia/microphthalmia-esophageal atresia syndrome1Nov 19, 2021
    Anterior segment dysgenesis 82Nov 19, 2021
    Aortic aneurysm, familial thoracic 101Nov 19, 2021
    Aortic valve disease 21Nov 19, 2021
    Arginase deficiency2Nov 19, 2021
    Argininosuccinate lyase deficiency8Nov 19, 2021
    Arrhythmogenic right ventricular dysplasia 1116Nov 19, 2021
    Arrhythmogenic right ventricular dysplasia 94Nov 19, 2021
    Arterial tortuosity syndrome5Nov 19, 2021
    Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect1Nov 19, 2021
    Arthrogryposis, renal dysfunction, and cholestasis 12Nov 19, 2021
    Aspartylglucosaminuria2Nov 19, 2021
    Asphyxiating thoracic dystrophy 22Nov 19, 2021
    Asphyxiating thoracic dystrophy 313Nov 19, 2021
    Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome8Nov 19, 2021
    Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia2Nov 19, 2021
    Ataxia-telangiectasia syndrome72Nov 19, 2021
    Ataxia-telangiectasia-like disorder 117Nov 19, 2021
    Autism spectrum disorder due to AUTS2 deficiency2Nov 19, 2021
    Autoimmune lymphoproliferative syndrome type 2B1Nov 19, 2021
    Autoinflammatory syndrome, familial, Behcet-like1Nov 19, 2021
    Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome3Nov 19, 2021
    Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)4Nov 19, 2021
    Autosomal dominant limb-girdle muscular dystrophy type 1F2Nov 19, 2021
    Autosomal dominant nonsyndromic hearing loss 51Nov 19, 2021
    Autosomal recessive DOPA responsive dystonia4Nov 19, 2021
    Autosomal recessive ataxia due to ubiquinone deficiency3Nov 19, 2021
    Autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome due to TUD deficiency2Nov 19, 2021
    Autosomal recessive congenital ichthyosis 15Nov 19, 2021
    Autosomal recessive congenital ichthyosis 101Nov 19, 2021
    Autosomal recessive congenital ichthyosis 111Nov 19, 2021
    Autosomal recessive congenital ichthyosis 33Nov 19, 2021
    Autosomal recessive congenital ichthyosis 51Nov 19, 2021
    Autosomal recessive congenital ichthyosis 62Nov 19, 2021
    Autosomal recessive distal renal tubular acidosis3Nov 19, 2021
    Autosomal recessive early-onset Parkinson disease 237Nov 19, 2021
    Autosomal recessive early-onset Parkinson disease 63Nov 19, 2021
    Autosomal recessive hypophosphatemic bone disease3Nov 19, 2021
    Autosomal recessive juvenile Parkinson disease 26Nov 19, 2021
    Autosomal recessive limb-girdle muscular dystrophy type 2C10Nov 19, 2021
    Autosomal recessive limb-girdle muscular dystrophy type 2D18Nov 19, 2021
    Autosomal recessive limb-girdle muscular dystrophy type 2E10Nov 19, 2021
    Autosomal recessive limb-girdle muscular dystrophy type 2W1Nov 19, 2021
    Autosomal recessive limb-girdle muscular dystrophy type 2X1Nov 19, 2021
    Autosomal recessive limb-girdle muscular dystrophy type 2Y1Nov 19, 2021
    Autosomal recessive limb-girdle muscular dystrophy type R188Nov 19, 2021
    Autosomal recessive nonsyndromic hearing loss 166Nov 19, 2021
    Autosomal recessive nonsyndromic hearing loss 18B14Nov 19, 2021
    Autosomal recessive nonsyndromic hearing loss 223Nov 19, 2021
    Autosomal recessive nonsyndromic hearing loss 241Nov 19, 2021
    Autosomal recessive nonsyndromic hearing loss 284Nov 19, 2021
    Autosomal recessive nonsyndromic hearing loss 311Nov 19, 2021
    Autosomal recessive nonsyndromic hearing loss 307Nov 19, 2021
    Autosomal recessive nonsyndromic hearing loss 422Nov 19, 2021
    Autosomal recessive nonsyndromic hearing loss 492Nov 19, 2021
    Autosomal recessive nonsyndromic hearing loss 591Nov 19, 2021
    Autosomal recessive nonsyndromic hearing loss 631Nov 19, 2021
    Autosomal recessive nonsyndromic hearing loss 671Nov 19, 2021
    Autosomal recessive nonsyndromic hearing loss 742Nov 19, 2021
    Autosomal recessive nonsyndromic hearing loss 775Nov 19, 2021
    Autosomal recessive nonsyndromic hearing loss 793Nov 19, 2021
    Autosomal recessive nonsyndromic hearing loss 86Nov 19, 2021
    Autosomal recessive nonsyndromic hearing loss 84B7Nov 19, 2021
    Autosomal recessive nonsyndromic hearing loss 96Nov 19, 2021
    Autosomal recessive nonsyndromic hearing loss 911Nov 19, 2021
    Autosomal recessive nonsyndromic hearing loss 932Nov 19, 2021
    Autosomal recessive nonsyndromic hearing loss 972Nov 19, 2021
    Autosomal recessive osteopetrosis 13Nov 19, 2021
    Autosomal recessive osteopetrosis 51Nov 19, 2021
    Autosomal recessive severe congenital neutropenia due to CSF3R deficiency1Nov 19, 2021
    Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency1Nov 19, 2021
    Autosomal recessive spastic paraplegia type 764Nov 19, 2021
    Autosomal recessive spinocerebellar ataxia 104Nov 19, 2021
    Autosomal recessive spinocerebellar ataxia 171Nov 19, 2021
    Autosomal recessive spinocerebellar ataxia 201Nov 19, 2021
    BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 204Nov 19, 2021
    Bailey-Bloch congenital myopathy1Nov 19, 2021
    Bardet-Biedl syndrome 13Nov 19, 2021
    Bardet-Biedl syndrome 104Nov 19, 2021
    Bardet-Biedl syndrome 124Nov 19, 2021
    Bardet-Biedl syndrome 43Nov 19, 2021
    Bardet-Biedl syndrome 51Nov 19, 2021
    Bardet-Biedl syndrome 72Nov 19, 2021
    Bartter disease type 12Nov 19, 2021
    Bartter disease type 22Nov 19, 2021
    Bartter disease type 4a3Nov 19, 2021
    Basal ganglia calcification, idiopathic, 7, autosomal recessive1Nov 19, 2021
    Bernard Soulier syndrome2Nov 19, 2021
    Beta-D-mannosidosis4Nov 19, 2021
    Beta-hydroxyisobutyryl-CoA deacylase deficiency2Nov 19, 2021
    Bietti crystalline corneoretinal dystrophy4Nov 19, 2021
    Biotin-responsive basal ganglia disease3Nov 19, 2021
    Biotinidase deficiency16Nov 19, 2021
    Blepharocheilodontic syndrome 21Nov 19, 2021
    Bloom syndrome26Nov 19, 2021
    Borjeson-Forssman-Lehmann syndrome1Nov 19, 2021
    Bosch-Boonstra-Schaaf optic atrophy syndrome1Nov 19, 2021
    Brittle cornea syndrome 11Nov 19, 2021
    Brittle cornea syndrome 22Nov 19, 2021
    Brody myopathy15Nov 19, 2021
    Brown-Vialetto-van Laere syndrome 22Nov 19, 2021
    Bruck syndrome 23Nov 19, 2021
    C1Q deficiency1Nov 19, 2021
    CHIME syndrome3Nov 19, 2021
    COG1 congenital disorder of glycosylation1Nov 19, 2021
    COG7 congenital disorder of glycosylation1Nov 19, 2021
    Camptodactyly-arthropathy-coxa vara-pericarditis syndrome3Nov 19, 2021
    Camptomelic dysplasia1Nov 19, 2021
    Candidiasis, familial, 92Nov 19, 2021
    Capillary malformation-arteriovenous malformation 12Nov 19, 2021
    Cardiofaciocutaneous syndrome 41Nov 19, 2021
    Cardiomyopathy, familial hypertrophic 272Nov 19, 2021
    Carnitine acylcarnitine translocase deficiency3Nov 19, 2021
    Carnitine palmitoyl transferase 1A deficiency1Nov 19, 2021
    Cataract 1 multiple types1Nov 19, 2021
    Cataract 10 multiple types1Nov 19, 2021
    Cataract 17 multiple types1Nov 19, 2021
    Cataract 183Nov 19, 2021
    Cataract 5 multiple types1Nov 19, 2021
    Cataract 9 multiple types2Nov 19, 2021
    Catecholaminergic polymorphic ventricular tachycardia 22Nov 19, 2021
    Catecholaminergic polymorphic ventricular tachycardia 58Nov 19, 2021
    Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 11Nov 19, 2021
    Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 43Nov 19, 2021
    Cerebellar ataxia-hypogonadism syndrome2Nov 19, 2021
    Cerebellar atrophy with seizures and variable developmental delay1Nov 19, 2021
    Cerebellar atrophy, visual impairment, and psychomotor retardation;2Nov 19, 2021
    Cerebral cavernous malformation1Nov 19, 2021
    Cerebral cavernous malformation 21Nov 19, 2021
    Cerebral cavernous malformation 31Nov 19, 2021
    Cerebral folate transport deficiency1Nov 19, 2021
    Cerebrofaciothoracic dysplasia1Nov 19, 2021
    Cerebrooculofacioskeletal syndrome 41Nov 19, 2021
    Cerebroretinal microangiopathy with calcifications and cysts 110Nov 19, 2021
    Cernunnos-XLF deficiency1Nov 19, 2021
    Charcot-Marie-Tooth disease X-linked dominant 12Nov 19, 2021
    Charcot-Marie-Tooth disease axonal type 2P4Nov 19, 2021
    Charcot-Marie-Tooth disease type 4B21Nov 19, 2021
    Charcot-Marie-Tooth disease type 4D4Nov 19, 2021
    Charlevoix-Saguenay spastic ataxia7Nov 19, 2021
    Childhood encephalopathy due to thiamine pyrophosphokinase deficiency1Nov 19, 2021
    Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome1Nov 19, 2021
    Cholestanol storage disease11Nov 19, 2021
    Chorea-acanthocytosis4Nov 19, 2021
    Christianson syndrome2Nov 19, 2021
    Chromosome 2q32-q33 deletion syndrome3Nov 19, 2021
    Chudley-McCullough syndrome3Nov 19, 2021
    Chylomicron retention disease2Nov 19, 2021
    Chédiak-Higashi syndrome9Nov 19, 2021
    Ciliary dyskinesia, primary, 381Nov 19, 2021
    Ciliary dyskinesia, primary, 4011Nov 19, 2021
    Ciliary dyskinesia, primary, 411Nov 19, 2021
    Citrullinemia type I14Nov 19, 2021
    Classic homocystinuria11Nov 19, 2021
    Cobalamin C disease13Nov 19, 2021
    Cobblestone lissencephaly without muscular or ocular involvement1Nov 19, 2021
    Coenzyme Q10 deficiency, primary, 12Nov 19, 2021
    Coffin-Siris syndrome 15Nov 19, 2021
    Cohen syndrome13Nov 19, 2021
    Cold-induced sweating syndrome 12Nov 19, 2021
    Combined deficiency of sialidase AND beta galactosidase4Nov 19, 2021
    Combined immunodeficiency due to CD3gamma deficiency1Nov 19, 2021
    Combined immunodeficiency due to DOCK8 deficiency4Nov 19, 2021
    Combined immunodeficiency due to LRBA deficiency2Nov 19, 2021
    Combined malonic and methylmalonic acidemia9Nov 19, 2021
    Combined oxidative phosphorylation defect type 113Nov 19, 2021
    Combined oxidative phosphorylation defect type 171Nov 19, 2021
    Combined oxidative phosphorylation defect type 211Nov 19, 2021
    Combined oxidative phosphorylation defect type 232Nov 19, 2021
    Combined oxidative phosphorylation defect type 91Nov 19, 2021
    Combined oxidative phosphorylation deficiency 321Nov 19, 2021
    Combined oxidative phosphorylation deficiency 352Nov 19, 2021
    Combined oxidative phosphorylation deficiency 391Nov 19, 2021
    Complement component 2 deficiency1Nov 19, 2021
    Complement component 6 deficiency2Nov 19, 2021
    Complement component 9 deficiency5Nov 19, 2021
    Complex lethal osteochondrodysplasia1Nov 19, 2021
    Cone dystrophy 41Nov 19, 2021
    Cone dystrophy with supernormal rod response3Nov 19, 2021
    Cone-rod dystrophy 153Nov 19, 2021
    Cone-rod dystrophy 181Nov 19, 2021
    Cone-rod dystrophy 195Nov 19, 2021
    Cone-rod dystrophy 201Nov 19, 2021
    Cone-rod dystrophy 211Nov 19, 2021
    Cone-rod dystrophy 71Nov 19, 2021
    Cone-rod dystrophy and hearing loss 12Nov 19, 2021
    Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency1Nov 19, 2021
    Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay1Nov 19, 2021
    Congenital bile acid synthesis defect 22Nov 19, 2021
    Congenital bile acid synthesis defect 61Nov 19, 2021
    Congenital defect of folate absorption1Nov 19, 2021
    Congenital diarrhea 7 with exudative enteropathy1Nov 19, 2021
    Congenital disorder of deglycosylation4Nov 19, 2021
    Congenital generalized lipodystrophy type 13Nov 19, 2021
    Congenital generalized lipodystrophy type 42Nov 19, 2021
    Congenital glucose-galactose malabsorption1Nov 19, 2021
    Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder2Nov 19, 2021
    Congenital heart defects, multiple types, 21Nov 19, 2021
    Congenital hyperammonemia, type I4Nov 19, 2021
    Congenital insensitivity to pain-hypohidrosis syndrome2Nov 19, 2021
    Congenital isolated adrenocorticotropic hormone deficiency2Nov 19, 2021
    Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type2Nov 19, 2021
    Congenital lipoid adrenal hyperplasia due to STAR deficency6Nov 19, 2021
    Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome4Nov 19, 2021
    Congenital muscular dystrophy due to integrin alpha-7 deficiency14Nov 19, 2021
    Congenital muscular dystrophy with cataracts and intellectual disability1Nov 19, 2021
    Congenital myasthenic syndrome 192Nov 19, 2021
    Congenital myasthenic syndrome 510Nov 19, 2021
    Congenital myasthenic syndrome 81Nov 19, 2021
    Congenital nonprogressive myopathy with Moebius and Robin sequences1Nov 19, 2021
    Congenital secretory diarrhea, chloride type2Nov 19, 2021
    Congenital stationary night blindness 1B4Nov 19, 2021
    Congenital stationary night blindness 1C5Nov 19, 2021
    Congenital stationary night blindness 1E2Nov 19, 2021
    Congenital stationary night blindness 1F1Nov 19, 2021
    Conotruncal heart malformations1Nov 19, 2021
    Cornea plana 21Nov 19, 2021
    Cornelia de Lange syndrome 12Nov 19, 2021
    Cornelia de Lange syndrome 51Nov 19, 2021
    Cortical dysplasia-focal epilepsy syndrome3Nov 19, 2021
    Corticosteroid-binding globulin deficiency1Nov 19, 2021
    Cortisone reductase deficiency 11Nov 19, 2021
    Costello syndrome2Nov 19, 2021
    Cranioectodermal dysplasia 13Nov 19, 2021
    Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome2Nov 19, 2021
    Craniofrontonasal syndrome2Nov 19, 2021
    Craniosynostosis and dental anomalies1Nov 19, 2021
    Cutaneous porphyria1Nov 19, 2021
    Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies4Nov 19, 2021
    Cutis laxa, autosomal recessive, type 1B1Nov 19, 2021
    Cystinuria11Nov 19, 2021
    DNA ligase IV deficiency1Nov 19, 2021
    Dalmatian hypouricemia3Nov 19, 2021
    Danon disease64Nov 19, 2021
    DeSanto-Shinawi syndrome due to WAC point mutation4Nov 19, 2021
    Deafness-encephaloneuropathy-obesity-valvulopathy syndrome1Nov 19, 2021
    Deficiency of 2-methylbutyryl-CoA dehydrogenase4Nov 19, 2021
    Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase10Nov 19, 2021
    Deficiency of acetyl-CoA acetyltransferase4Nov 19, 2021
    Deficiency of alpha-mannosidase7Nov 19, 2021
    Deficiency of aromatic-L-amino-acid decarboxylase5Nov 19, 2021
    Deficiency of beta-ureidopropionase4Nov 19, 2021
    Deficiency of butyryl-CoA dehydrogenase7Nov 19, 2021
    Deficiency of butyrylcholinesterase10Nov 19, 2021
    Deficiency of cytochrome-b5 reductase1Nov 19, 2021
    Deficiency of ferroxidase3Nov 19, 2021
    Deficiency of galactokinase4Nov 19, 2021
    Deficiency of guanidinoacetate methyltransferase10Nov 19, 2021
    Deficiency of hydroxymethylglutaryl-CoA lyase4Nov 19, 2021
    Deficiency of isobutyryl-CoA dehydrogenase2Nov 19, 2021
    Deficiency of malonyl-CoA decarboxylase4Nov 19, 2021
    Deficiency of pyrroline-5-carboxylate reductase1Nov 19, 2021
    Deficiency of steroid 17-alpha-monooxygenase2Nov 19, 2021
    Deficiency of transaldolase2Nov 19, 2021
    Dehydrated hereditary stomatocytosis 23Nov 19, 2021
    Dermatofibrosis lenticularis disseminata1Nov 19, 2021
    Developmental and epileptic encephalopathy 942Nov 19, 2021
    Developmental and epileptic encephalopathy, 182Nov 19, 2021
    Developmental and epileptic encephalopathy, 23Nov 19, 2021
    Developmental and epileptic encephalopathy, 311Nov 19, 2021
    Developmental and epileptic encephalopathy, 321Nov 19, 2021
    Developmental and epileptic encephalopathy, 341Nov 19, 2021
    Developmental and epileptic encephalopathy, 371Nov 19, 2021
    Developmental and epileptic encephalopathy, 381Nov 19, 2021
    Developmental and epileptic encephalopathy, 44Nov 19, 2021
    Developmental and epileptic encephalopathy, 431Nov 19, 2021
    Developmental and epileptic encephalopathy, 482Nov 19, 2021
    Developmental and epileptic encephalopathy, 51Nov 19, 2021
    Developmental and epileptic encephalopathy, 511Nov 19, 2021
    Developmental and epileptic encephalopathy, 541Nov 19, 2021
    Developmental and epileptic encephalopathy, 551Nov 19, 2021
    Developmental and epileptic encephalopathy, 751Nov 19, 2021
    Developmental and epileptic encephalopathy, 771Nov 19, 2021
    Developmental and epileptic encephalopathy, 842Nov 19, 2021
    Developmental and epileptic encephalopathy, 94Nov 19, 2021
    Developmental delay with variable intellectual impairment and behavioral abnormalities1Nov 19, 2021
    Diabetes insipidus, nephrogenic, autosomal1Nov 19, 2021
    Diabetes mellitus, transient neonatal, 13Nov 19, 2021
    Diamond-Blackfan anemia 12Nov 19, 2021
    Diamond-Blackfan anemia 101Nov 19, 2021
    Diamond-Blackfan anemia 61Nov 19, 2021
    Diamond-Blackfan anemia 71Nov 19, 2021
    Diencephalic-mesencephalic junction dysplasia syndrome 12Nov 19, 2021
    Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome2Nov 19, 2021
    Dihydropteridine reductase deficiency1Nov 19, 2021
    Dihydropyrimidinase deficiency3Nov 19, 2021
    Dihydropyrimidine dehydrogenase deficiency6Nov 19, 2021
    Distal arthrogryposis type 5D1Nov 19, 2021
    Distichiasis-lymphedema syndrome1Nov 19, 2021
    Donnai-Barrow syndrome1Nov 19, 2021
    Dopa-responsive dystonia due to sepiapterin reductase deficiency2Nov 19, 2021
    Dopamine beta-hydroxylase deficiency2Nov 19, 2021
    Dubin-Johnson syndrome7Nov 19, 2021
    Dyskinesia with orofacial involvement, autosomal dominant1Nov 19, 2021
    Dystonia 28, childhood-onset1Nov 19, 2021
    Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome3Nov 19, 2021
    Ectodermal dysplasia-syndactyly syndrome 11Nov 19, 2021
    Ehlers-Danlos syndrome progeroid type1Nov 19, 2021
    Ehlers-Danlos syndrome, classic type, 22Nov 19, 2021
    Ehlers-Danlos syndrome, classic-like, 21Nov 19, 2021
    Ehlers-Danlos syndrome, dermatosparaxis type1Nov 19, 2021
    Ehlers-Danlos syndrome, kyphoscoliotic type 11Nov 19, 2021
    Ehlers-Danlos syndrome, musculocontractural type 13Nov 19, 2021
    Elliptocytosis 12Nov 19, 2021
    Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 14Nov 19, 2021
    Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome2Nov 19, 2021
    Enterokinase deficiency3Nov 19, 2021
    Epidermodysplasia verruciformis, susceptibility to, 21Nov 19, 2021
    Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive3Nov 19, 2021
    Epidermolytic palmoplantar keratoderma1Nov 19, 2021
    Epilepsy, early-onset, vitamin B6-dependent2Nov 19, 2021
    Epilepsy, familial focal, with variable foci 12Nov 19, 2021
    Epilepsy, familial focal, with variable foci 32Nov 19, 2021
    Epiphyseal dysplasia, multiple, 32Nov 19, 2021
    Episodic ataxia type 11Nov 19, 2021
    Erythrokeratodermia variabilis et progressiva 41Nov 19, 2021
    Exudative vitreoretinopathy 11Nov 19, 2021
    Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome1Nov 19, 2021
    Factor VII deficiency4Nov 19, 2021
    Factor XIII, A subunit, deficiency of1Nov 19, 2021
    Factor XIII, b subunit, deficiency of2Nov 19, 2021
    Familial X-linked hypophosphatemic vitamin D refractory rickets1Nov 19, 2021
    Familial adenomatous polyposis 228Nov 19, 2021
    Familial adenomatous polyposis 32Nov 19, 2021
    Familial cold autoinflammatory syndrome 23Nov 19, 2021
    Familial hemophagocytic lymphohistiocytosis 36Nov 19, 2021
    Familial hemophagocytic lymphohistiocytosis 51Nov 19, 2021
    Familial hypobetalipoproteinemia 23Nov 19, 2021
    Familial hypokalemia-hypomagnesemia12Nov 19, 2021
    Familial infantile myasthenia4Nov 19, 2021
    Familial isolated deficiency of vitamin E2Nov 19, 2021
    Familial porphyria cutanea tarda1Nov 19, 2021
    Familial pulmonary capillary hemangiomatosis3Nov 19, 2021
    Familial renal glucosuria4Nov 19, 2021
    Familial steroid-resistant nephrotic syndrome with sensorineural deafness2Nov 19, 2021
    Fanconi anemia complementation group A41Nov 19, 2021
    Fanconi anemia complementation group C14Nov 19, 2021
    Fanconi anemia complementation group D230Nov 19, 2021
    Fanconi anemia complementation group E4Nov 19, 2021
    Fanconi anemia complementation group G3Nov 19, 2021
    Fanconi anemia complementation group I5Nov 19, 2021
    Fanconi anemia complementation group J29Nov 19, 2021
    Fanconi anemia complementation group L1Nov 19, 2021
    Fanconi anemia complementation group N19Nov 19, 2021
    Fanconi anemia complementation group O8Nov 19, 2021
    Fanconi anemia complementation group P4Nov 19, 2021
    Fanconi anemia complementation group T1Nov 19, 2021
    Fanconi-Bickel syndrome2Nov 19, 2021
    Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 32Nov 19, 2021
    Feingold syndrome type 11Nov 19, 2021
    Fibrosis of extraocular muscles, congenital, 51Nov 19, 2021
    Filippi syndrome1Nov 19, 2021
    Finnish congenital nephrotic syndrome9Nov 19, 2021
    Fleck corneal dystrophy3Nov 19, 2021
    Floating-Harbor syndrome1Nov 19, 2021
    Focal dermal hypoplasia2Nov 19, 2021
    Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome1Nov 19, 2021
    Frank-Ter Haar syndrome2Nov 19, 2021
    Fraser syndrome 110Nov 19, 2021
    Fructose-biphosphatase deficiency3Nov 19, 2021
    Fucosidosis1Nov 19, 2021
    GM3 synthase deficiency5Nov 19, 2021
    Gabriele de Vries syndrome1Nov 19, 2021
    Galloway-Mowat syndrome 11Nov 19, 2021
    Galloway-Mowat syndrome 32Nov 19, 2021
    Gamma-aminobutyric acid transaminase deficiency6Nov 19, 2021
    Geleophysic dysplasia 11Nov 19, 2021
    Generalized pustular psoriasis1Nov 19, 2021
    Geroderma osteodysplastica2Nov 19, 2021
    Giant axonal neuropathy 12Nov 19, 2021
    Glaucoma 1, open angle, A3Nov 19, 2021
    Global developmental delay with or without impaired intellectual development1Nov 19, 2021
    Glomuvenous malformation4Nov 19, 2021
    Glucocorticoid deficiency 12Nov 19, 2021
    Glucocorticoid deficiency with achalasia62Nov 19, 2021
    Glutamate formiminotransferase deficiency2Nov 19, 2021
    Glutamate pyruvate transaminase 2 deficiency1Nov 19, 2021
    Glutaric aciduria, type 120Nov 19, 2021
    Glutaryl-CoA oxidase deficiency1Nov 19, 2021
    Glycogen storage disease IXa16Nov 19, 2021
    Glycogen storage disease IXb3Nov 19, 2021
    Glycogen storage disease due to glucose-6-phosphatase deficiency type IA7Nov 19, 2021
    Glycogen storage disease due to muscle and heart glycogen synthase deficiency3Nov 19, 2021
    Glycogen storage disease type III10Nov 19, 2021
    Glycogen storage disease, type V27Nov 19, 2021
    Glycogen storage disease, type VI2Nov 19, 2021
    Glycogen storage disease, type VII1Nov 19, 2021
    Glycogen storage disorder due to hepatic glycogen synthase deficiency3Nov 19, 2021
    Glycosylphosphatidylinositol biosynthesis defect 153Nov 19, 2021
    Goldberg-Shprintzen megacolon syndrome2Nov 19, 2021
    Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative3Nov 19, 2021
    Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 12Nov 19, 2021
    Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 23Nov 19, 2021
    Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 32Nov 19, 2021
    Gray platelet syndrome1Nov 19, 2021
    Griscelli syndrome type 32Nov 19, 2021
    Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome2Nov 19, 2021
    Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy4Nov 19, 2021
    Hearing loss, autosomal recessive 1113Nov 19, 2021
    Heme oxygenase 1 deficiency1Nov 19, 2021
    Hemochromatosis type 2A3Nov 19, 2021
    Hemochromatosis type 33Nov 19, 2021
    Hemolytic anemia due to glucophosphate isomerase deficiency3Nov 19, 2021
    Hepatic methionine adenosyltransferase deficiency1Nov 19, 2021
    Hepatic veno-occlusive disease-immunodeficiency syndrome2Nov 19, 2021
    Hepatoencephalopathy due to combined oxidative phosphorylation defect type 15Nov 19, 2021
    Hereditary acrodermatitis enteropathica1Nov 19, 2021
    Hereditary antithrombin deficiency2Nov 19, 2021
    Hereditary factor VIII deficiency disease3Nov 19, 2021
    Hereditary factor XI deficiency disease9Nov 19, 2021
    Hereditary fructosuria5Nov 19, 2021
    Hereditary insensitivity to pain with anhidrosis5Nov 19, 2021
    Hereditary spastic paraplegia 121Nov 19, 2021
    Hereditary spastic paraplegia 153Nov 19, 2021
    Hereditary spastic paraplegia 351Nov 19, 2021
    Hereditary spastic paraplegia 485Nov 19, 2021
    Hereditary spastic paraplegia 493Nov 19, 2021
    Hereditary spastic paraplegia 501Nov 19, 2021
    Hereditary spastic paraplegia 541Nov 19, 2021
    Hereditary spastic paraplegia 561Nov 19, 2021
    Hereditary spastic paraplegia 714Nov 19, 2021
    Hereditary spherocytosis type 115Nov 19, 2021
    Hereditary spherocytosis type 51Nov 19, 2021
    Hereditary xanthinuria type 13Nov 19, 2021
    Hermansky-Pudlak syndrome 16Nov 19, 2021
    Hermansky-Pudlak syndrome 21Nov 19, 2021
    Hermansky-Pudlak syndrome 35Nov 19, 2021
    Hermansky-Pudlak syndrome 41Nov 19, 2021
    Hermansky-Pudlak syndrome 51Nov 19, 2021
    Hermansky-Pudlak syndrome 64Nov 19, 2021
    Heterotaxy, visceral, 7, autosomal2Nov 19, 2021
    Heterotaxy, visceral, 8, autosomal2Nov 19, 2021
    High myopia-sensorineural deafness syndrome1Nov 19, 2021
    Holocarboxylase synthetase deficiency4Nov 19, 2021
    Holt-Oram syndrome1Nov 19, 2021
    Homocystinuria due to methylene tetrahydrofolate reductase deficiency3Nov 19, 2021
    Hyaline fibromatosis syndrome3Nov 19, 2021
    Hydatidiform mole, recurrent, 14Nov 19, 2021
    Hydrocephalus, nonsyndromic, autosomal recessive 24Nov 19, 2021
    Hyper-IgM syndrome type 51Nov 19, 2021
    Hyperalphalipoproteinemia 14Nov 19, 2021
    Hyperammonemia, type III1Nov 19, 2021
    Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency1Nov 19, 2021
    Hypercalcemia, infantile, 15Nov 19, 2021
    Hypercholesterolemia, autosomal dominant, 35Nov 19, 2021
    Hypercholesterolemia, familial, 148Nov 19, 2021
    Hypercholesterolemia, familial, 45Nov 19, 2021
    Hyperekplexia 13Nov 19, 2021
    Hyperekplexia 33Nov 19, 2021
    Hyperlysinemia5Nov 19, 2021
    Hypermanganesemia with dystonia, polycythemia, and cirrhosis1Nov 19, 2021
    Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase1Nov 19, 2021
    Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome2Nov 19, 2021
    Hyperparathyroidism, transient neonatal1Nov 19, 2021
    Hyperphosphatasia with intellectual disability syndrome 23Nov 19, 2021
    Hyperphosphatasia with intellectual disability syndrome 43Nov 19, 2021
    Hypertrophic cardiomyopathy 161Nov 19, 2021
    Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome1Nov 19, 2021
    Hypogonadotropic hypogonadism 11 with or without anosmia1Nov 19, 2021
    Hypogonadotropic hypogonadism 14 with or without anosmia1Nov 19, 2021
    Hypogonadotropic hypogonadism 3 with or without anosmia2Nov 19, 2021
    Hypogonadotropic hypogonadism 7 with or without anosmia4Nov 19, 2021
    Hypokalemic periodic paralysis, type 16Nov 19, 2021
    Hypomyelinating leukodystrophy 103Nov 19, 2021
    Hypomyelinating leukodystrophy 96Nov 19, 2021
    Hypomyelination and Congenital Cataract1Nov 19, 2021
    Hypoparathyroidism, deafness, renal disease syndrome1Nov 19, 2021
    Hypophosphatemic rickets, autosomal recessive, 12Nov 19, 2021
    Hypotonia, ataxia, and delayed development syndrome1Nov 19, 2021
    Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome1Nov 19, 2021
    Hypotonia, infantile, with psychomotor retardation and characteristic facies 27Nov 19, 2021
    Hypotonia, infantile, with psychomotor retardation and characteristic facies 35Nov 19, 2021
    Hypotrichosis 63Nov 19, 2021
    Hypotrichosis 82Nov 19, 2021
    Hypouricemia, renal, 21Nov 19, 2021
    Ichthyosis prematurity syndrome1Nov 19, 2021
    Ichthyosis vulgaris14Nov 19, 2021
    Idiopathic basal ganglia calcification 12Nov 19, 2021
    Imerslund-Grasbeck syndrome type 23Nov 19, 2021
    Immunodeficiency 1044Nov 19, 2021
    Immunodeficiency 181Nov 19, 2021
    Immunodeficiency 235Nov 19, 2021
    Immunodeficiency 641Nov 19, 2021
    Immunodeficiency 671Nov 19, 2021
    Immunodeficiency due to CD25 deficiency1Nov 19, 2021
    Immunodeficiency, common variable, 122Nov 19, 2021
    Immunodeficiency, common variable, 31Nov 19, 2021
    Immunodeficiency, common variable, 71Nov 19, 2021
    Immunoglobulin-mediated membranoproliferative glomerulonephritis2Nov 19, 2021
    Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly1Nov 19, 2021
    Infantile nephronophthisis2Nov 19, 2021
    Intellectual developmental disorder 60 with seizures1Nov 19, 2021
    Intellectual developmental disorder and retinitis pigmentosa; IDDRP3Nov 19, 2021
    Intellectual developmental disorder with autistic features and language delay, with or without seizures1Nov 19, 2021
    Intellectual developmental disorder with dysmorphic facies and ptosis1Nov 19, 2021
    Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies2Nov 19, 2021
    Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold3Nov 19, 2021
    Intellectual developmental disorder with neuropsychiatric features1Nov 19, 2021
    Intellectual developmental disorder, autosomal dominant 641Nov 19, 2021
    Intellectual developmental disorder, autosomal recessive 681Nov 19, 2021
    Intellectual disability, X-linked 13Nov 19, 2021
    Intellectual disability, X-linked 1024Nov 19, 2021
    Intellectual disability, X-linked 931Nov 19, 2021
    Intellectual disability, X-linked syndromic, Turner type1Nov 19, 2021
    Intellectual disability, X-linked, syndromic, Houge type1Nov 19, 2021
    Intellectual disability, autosomal dominant 142Nov 19, 2021
    Intellectual disability, autosomal dominant 153Nov 19, 2021
    Intellectual disability, autosomal dominant 161Nov 19, 2021
    Intellectual disability, autosomal dominant 201Nov 19, 2021
    Intellectual disability, autosomal dominant 221Nov 19, 2021
    Intellectual disability, autosomal dominant 271Nov 19, 2021
    Intellectual disability, autosomal dominant 341Nov 19, 2021
    Intellectual disability, autosomal dominant 401Nov 19, 2021
    Intellectual disability, autosomal dominant 421Nov 19, 2021
    Intellectual disability, autosomal dominant 472Nov 19, 2021
    Intellectual disability, autosomal dominant 56Nov 19, 2021
    Intellectual disability, autosomal dominant 502Nov 19, 2021
    Intellectual disability, autosomal dominant 521Nov 19, 2021
    Intellectual disability, autosomal dominant 572Nov 19, 2021
    Intellectual disability, autosomal dominant 581Nov 19, 2021
    Intellectual disability, autosomal recessive 132Nov 19, 2021
    Intellectual disability, autosomal recessive 33Nov 19, 2021
    Intellectual disability, autosomal recessive 421Nov 19, 2021
    Intellectual disability, autosomal recessive 442Nov 19, 2021
    Intellectual disability, autosomal recessive 472Nov 19, 2021
    Intellectual disability, autosomal recessive 533Nov 19, 2021
    Intellectual disability, autosomal recessive 571Nov 19, 2021
    Intellectual disability, autosomal recessive 651Nov 19, 2021
    Intellectual disability, autosomal recessive 71Nov 19, 2021
    Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency6Nov 19, 2021
    Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome1Nov 19, 2021
    Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome2Nov 19, 2021
    Intellectual disability-strabismus syndrome1Nov 19, 2021
    Interstitial lung disease due to ABCA3 deficiency2Nov 19, 2021
    Intestinal hypomagnesemia 11Nov 19, 2021
    Iodotyrosine deiodination defect1Nov 19, 2021
    Iodotyrosyl coupling defect4Nov 19, 2021
    Iron-refractory iron deficiency anemia1Nov 19, 2021
    Isolated growth hormone deficiency, type 41Nov 19, 2021
    Isolated hyperchlorhidrosis1Nov 19, 2021
    Isolated microphthalmia 62Nov 19, 2021
    Isovaleryl-CoA dehydrogenase deficiency5Nov 19, 2021
    Jaberi-Elahi syndrome2Nov 19, 2021
    Johanson-Blizzard syndrome2Nov 19, 2021
    Joubert syndrome 133Nov 19, 2021
    Joubert syndrome 143Nov 19, 2021
    Joubert syndrome 217Nov 19, 2021
    Joubert syndrome 252Nov 19, 2021
    Joubert syndrome 262Nov 19, 2021
    Joubert syndrome 39Nov 19, 2021
    Joubert syndrome 302Nov 19, 2021
    Joubert syndrome 331Nov 19, 2021
    KBG syndrome4Nov 19, 2021
    Kabuki syndrome 18Nov 19, 2021
    Kabuki syndrome 21Nov 19, 2021
    Kartagener syndrome3Nov 19, 2021
    Karyomegalic interstitial nephritis1Nov 19, 2021
    Kindler syndrome1Nov 19, 2021
    Kleefstra syndrome 11Nov 19, 2021
    Kleefstra syndrome 21Nov 19, 2021
    Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome7Nov 19, 2021
    Koolen-de Vries syndrome3Nov 19, 2021
    Kostmann syndrome1Nov 19, 2021
    L-2-hydroxyglutaric aciduria1Nov 19, 2021
    Lafora disease3Nov 19, 2021
    Lattice corneal dystrophy Type III1Nov 19, 2021
    Leber congenital amaurosis 134Nov 19, 2021
    Leber congenital amaurosis 33Nov 19, 2021
    Leber congenital amaurosis 42Nov 19, 2021
    Leber congenital amaurosis 52Nov 19, 2021
    Leber hereditary optic neuropathy, autosomal recessive1Nov 19, 2021
    Left ventricular noncompaction 81Nov 19, 2021
    Lethal congenital contracture syndrome 113Nov 19, 2021
    Leukocyte adhesion deficiency 13Nov 19, 2021
    Leukocyte adhesion deficiency 31Nov 19, 2021
    Leukocyte adhesion deficiency type II1Nov 19, 2021
    Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome2Nov 19, 2021
    Lipase deficiency, combined3Nov 19, 2021
    Lipid proteinosis4Nov 19, 2021
    Lipoyl transferase 1 deficiency4Nov 19, 2021
    Lissencephaly 6 with microcephaly1Nov 19, 2021
    Lissencephaly due to LIS1 mutation2Nov 19, 2021
    Lissencephaly type 1 due to doublecortin gene mutation1Nov 19, 2021
    Loricrin keratoderma2Nov 19, 2021
    Luscan-Lumish syndrome1Nov 19, 2021
    Lymphoproliferative syndrome 21Nov 19, 2021
    Lysinuric protein intolerance2Nov 19, 2021
    Lysosomal acid lipase deficiency4Nov 19, 2021
    MEGF10-Related Myopathy4Nov 19, 2021
    MHC class II deficiency3Nov 19, 2021
    MOGS-congenital disorder of glycosylation3Nov 19, 2021
    MPI-congenital disorder of glycosylation1Nov 19, 2021
    Macrocephaly, acquired, with impaired intellectual development2Nov 19, 2021
    Macrocephaly, dysmorphic facies, and psychomotor retardation1Nov 19, 2021
    Macrocephaly-developmental delay syndrome2Nov 19, 2021
    Majeed syndrome1Nov 19, 2021
    Mandibulofacial dysostosis-microcephaly syndrome2Nov 19, 2021
    Maple syrup urine disease20Nov 19, 2021
    Marinesco-Sjögren syndrome5Nov 19, 2021
    Mast syndrome1Nov 19, 2021
    Medium-chain acyl-coenzyme A dehydrogenase deficiency14Nov 19, 2021
    Megalencephalic leukoencephalopathy with subcortical cysts 13Nov 19, 2021
    Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 31Nov 19, 2021
    Meier-Gorlin syndrome 12Nov 19, 2021
    Meier-Gorlin syndrome 44Nov 19, 2021
    Meier-Gorlin syndrome 71Nov 19, 2021
    Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency2Nov 19, 2021
    Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency2Nov 19, 2021
    Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression1Nov 19, 2021
    Metachromatic leukodystrophy17Nov 19, 2021
    Metaphyseal chondrodysplasia, Schmid type1Nov 19, 2021
    Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome2Nov 19, 2021
    Methylcobalamin deficiency type cblE1Nov 19, 2021
    Methylcobalamin deficiency type cblG3Nov 19, 2021
    Methylmalonic aciduria and homocystinuria type cblD1Nov 19, 2021
    Methylmalonic aciduria and homocystinuria type cblF4Nov 19, 2021
    Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency15Nov 19, 2021
    Methylmalonic aciduria, cblA type2Nov 19, 2021
    Methylmalonic aciduria, cblB type1Nov 19, 2021
    Microcephalic osteodysplastic primordial dwarfism type II14Nov 19, 2021
    Microcephalic primordial dwarfism due to RTTN deficiency7Nov 19, 2021
    Microcephalic primordial dwarfism due to ZNF335 deficiency3Nov 19, 2021
    Microcephalic primordial dwarfism, Alazami type7Nov 19, 2021
    Microcephaly 1, primary, autosomal recessive6Nov 19, 2021
    Microcephaly 2, primary, autosomal recessive, with or without cortical malformations6Nov 19, 2021
    Microcephaly 3, primary, autosomal recessive5Nov 19, 2021
    Microcephaly 5, primary, autosomal recessive19Nov 19, 2021
    Microcephaly 8, primary, autosomal recessive1Nov 19, 2021
    Microcephaly and chorioretinopathy 12Nov 19, 2021
    Microcephaly and chorioretinopathy 32Nov 19, 2021
    Microcephaly, epilepsy, and diabetes syndrome1Nov 19, 2021
    Microcephaly-capillary malformation syndrome1Nov 19, 2021
    Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome4Nov 19, 2021
    Microcornea-myopic chorioretinal atrophy2Nov 19, 2021
    Microphthalmia with limb anomalies2Nov 19, 2021
    Microphthalmia, syndromic 121Nov 19, 2021
    Miller syndrome2Nov 19, 2021
    Mitochondrial DNA depletion syndrome 17Nov 19, 2021
    Mitochondrial DNA depletion syndrome 111Nov 19, 2021
    Mitochondrial DNA depletion syndrome 133Nov 19, 2021
    Mitochondrial DNA depletion syndrome 91Nov 19, 2021
    Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria2Nov 19, 2021
    Mitochondrial complex 1 deficiency, nuclear type 101Nov 19, 2021
    Mitochondrial complex 1 deficiency, nuclear type 181Nov 19, 2021
    Mitochondrial complex 1 deficiency, nuclear type 191Nov 19, 2021
    Mitochondrial complex 1 deficiency, nuclear type 213Nov 19, 2021
    Mitochondrial complex 1 deficiency, nuclear type 252Nov 19, 2021
    Mitochondrial complex 1 deficiency, nuclear type 292Nov 19, 2021
    Mitochondrial complex 1 deficiency, nuclear type 331Nov 19, 2021
    Mitochondrial complex 1 deficiency, nuclear type 44Nov 19, 2021
    Mitochondrial complex 1 deficiency, nuclear type 53Nov 19, 2021
    Mitochondrial complex 1 deficiency, nuclear type 62Nov 19, 2021
    Mitochondrial complex 1 deficiency, nuclear type 71Nov 19, 2021
    Mitochondrial complex 4 deficiency, nuclear type 31Nov 19, 2021
    Mitochondrial complex 5 (ATP synthase) deficiency, nuclear type 61Nov 19, 2021
    Mitochondrial complex I deficiency, nuclear type 11Nov 19, 2021
    Mitochondrial complex III deficiency nuclear type 21Nov 19, 2021
    Mitochondrial complex III deficiency nuclear type 51Nov 19, 2021
    Mitochondrial complex III deficiency nuclear type 81Nov 19, 2021
    Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency1Nov 19, 2021
    Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome2Nov 19, 2021
    Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency7Nov 19, 2021
    Mitochondrial trifunctional protein deficiency2Nov 19, 2021
    Mowat-Wilson syndrome7Nov 19, 2021
    Moyamoya disease with early-onset achalasia1Nov 19, 2021
    Mucolipidosis type III gamma2Nov 19, 2021
    Mucolipidosis type IV2Nov 19, 2021
    Mucopolysaccharidosis type 69Nov 19, 2021
    Mucopolysaccharidosis type 710Nov 19, 2021
    Mucopolysaccharidosis, MPS-II7Nov 19, 2021
    Mucopolysaccharidosis, MPS-III-A7Nov 19, 2021
    Mucopolysaccharidosis, MPS-III-D2Nov 19, 2021
    Mucopolysaccharidosis, MPS-IV-A20Nov 19, 2021
    Mulibrey nanism syndrome1Nov 19, 2021
    Multicentric osteolysis, nodulosis, and arthropathy2Nov 19, 2021
    Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome2Nov 19, 2021
    Multiple acyl-CoA dehydrogenase deficiency13Nov 19, 2021
    Multiple congenital anomalies-hypotonia-seizures syndrome 14Nov 19, 2021
    Multiple congenital anomalies-hypotonia-seizures syndrome 21Nov 19, 2021
    Multiple endocrine neoplasia, type 14Nov 19, 2021
    Multiple gastrointestinal atresias2Nov 19, 2021
    Multiple mitochondrial dysfunctions syndrome 12Nov 19, 2021
    Multiple mitochondrial dysfunctions syndrome 21Nov 19, 2021
    Multiple mitochondrial dysfunctions syndrome 41Nov 19, 2021
    Multiple mitochondrial dysfunctions syndrome 61Nov 19, 2021
    Multiple sulfatase deficiency6Nov 19, 2021
    Muscle AMP deaminase deficiency2Nov 19, 2021
    Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 102Nov 19, 2021
    Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 117Nov 19, 2021
    Myasthenic syndrome, congenital, 224Nov 19, 2021
    Myeloperoxidase deficiency7Nov 19, 2021
    Myoclonic dystonia 116Nov 19, 2021
    Myoclonic-atonic epilepsy3Nov 19, 2021
    Myofibrillar myopathy 71Nov 19, 2021
    Myoglobinuria, acute recurrent, autosomal recessive1Nov 19, 2021
    Myopathy with abnormal lipid metabolism1Nov 19, 2021
    Myopathy, centronuclear, 22Nov 19, 2021
    Myopathy, centronuclear, 51Nov 19, 2021
    Myopathy, proximal, and ophthalmoplegia6Nov 19, 2021
    Myopia 24, autosomal dominant1Nov 19, 2021
    Nager syndrome1Nov 19, 2021
    Nemaline myopathy 104Nov 19, 2021
    Nemaline myopathy 51Nov 19, 2021
    Nemaline myopathy 82Nov 19, 2021
    Nemaline myopathy 93Nov 19, 2021
    Neonatal acute respiratory distress due to SP-B deficiency2Nov 19, 2021
    Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome3Nov 19, 2021
    Neonatal ichthyosis-sclerosing cholangitis syndrome1Nov 19, 2021
    Nephronophthisis 162Nov 19, 2021
    Nephrotic syndrome 151Nov 19, 2021
    Nephrotic syndrome, type 25Nov 19, 2021
    Nephrotic syndrome, type 35Nov 19, 2021
    Nephrotic syndrome, type 91Nov 19, 2021
    Netherton syndrome7Nov 19, 2021
    Neurodegeneration with brain iron accumulation 52Nov 19, 2021
    Neurodegeneration, childhood-onset, with cerebellar atrophy2Nov 19, 2021
    Neurodegeneration, infantile-onset, biotin-responsive1Nov 19, 2021
    Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies1Nov 19, 2021
    Neurodevelopmental disorder with dysmorphic facies and variable seizures1Nov 19, 2021
    Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination1Nov 19, 2021
    Neurodevelopmental disorder with microcephaly and structural brain anomalies2Nov 19, 2021
    Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies1Nov 19, 2021
    Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies2Nov 19, 2021
    Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart1Nov 19, 2021
    Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements2Nov 19, 2021
    Neurodevelopmental disorder with seizures and speech and walking impairment1Nov 19, 2021
    Neurofibromatosis, type 22Nov 19, 2021
    Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset1Nov 19, 2021
    Neuronal ceroid lipofuscinosis 12Nov 19, 2021
    Neuronal ceroid lipofuscinosis 101Nov 19, 2021
    Neuronal ceroid lipofuscinosis 133Nov 19, 2021
    Neuronal ceroid lipofuscinosis 31Nov 19, 2021
    Neuronal ceroid lipofuscinosis 52Nov 19, 2021
    Neuropathy, hereditary sensory and autonomic, type 2B1Nov 19, 2021
    Neutral lipid storage myopathy3Nov 19, 2021
    Niemann-Pick disease, type C16Nov 19, 2021
    Niemann-Pick disease, type C22Nov 19, 2021
    Nijmegen breakage syndrome-like disorder38Nov 19, 2021
    Non-acquired combined pituitary hormone deficiency with spine abnormalities1Nov 19, 2021
    Non-ketotic hyperglycinemia23Nov 19, 2021
    Nonprogressive cerebellar atxia with intellectual disability1Nov 19, 2021
    Noonan syndrome 121Nov 19, 2021
    Noonan syndrome 612Nov 19, 2021
    Noonan syndrome 86Nov 19, 2021
    Norman-Roberts syndrome2Nov 19, 2021
    Nystagmus 1, congenital, X-linked2Nov 19, 2021
    Obesity due to prohormone convertase I deficiency3Nov 19, 2021
    Occipital pachygyria and polymicrogyria4Nov 19, 2021
    Oculocerebrofacial syndrome, Kaufman type5Nov 19, 2021
    Oculofaciocardiodental syndrome3Nov 19, 2021
    Oculopharyngeal muscular dystrophy10Nov 19, 2021
    Oligodontia-cancer predisposition syndrome1Nov 19, 2021
    Oocyte maturation defect 42Nov 19, 2021
    Opsismodysplasia4Nov 19, 2021
    Ornithine aminotransferase deficiency1Nov 19, 2021
    Ornithine carbamoyltransferase deficiency2Nov 19, 2021
    Orofaciodigital syndrome V1Nov 19, 2021
    Orofaciodigital syndrome type 146Nov 19, 2021
    Osteogenesis imperfecta type 141Nov 19, 2021
    Osteogenesis imperfecta type 161Nov 19, 2021
    Osteogenesis imperfecta type 51Nov 19, 2021
    Osteogenesis imperfecta type 72Nov 19, 2021
    Osteogenesis imperfecta type 84Nov 19, 2021
    Osteogenesis imperfecta type 91Nov 19, 2021
    Osteopathia striata with cranial sclerosis2Nov 19, 2021
    Osteopetrosis with renal tubular acidosis1Nov 19, 2021
    PGM1-congenital disorder of glycosylation4Nov 19, 2021
    PHARC syndrome2Nov 19, 2021
    PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome2Nov 19, 2021
    PMM2-congenital disorder of glycosylation8Nov 19, 2021
    PULMONARY ALVEOLAR MICROLITHIASIS1Nov 19, 2021
    PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome2Nov 19, 2021
    Paget disease of bone 61Nov 19, 2021
    Palmoplantar keratoderma, Nagashima type3Nov 19, 2021
    Palmoplantar keratoderma, punctate type 1A38Nov 19, 2021
    Pancytopenia-developmental delay syndrome2Nov 19, 2021
    Paragangliomas 21Nov 19, 2021
    Parkinsonism-dystonia, infantile, 11Nov 19, 2021
    Peeling skin syndrome 41Nov 19, 2021
    Peeling skin syndrome 51Nov 19, 2021
    Peeling skin syndrome 61Nov 19, 2021
    Periventricular heterotopia with microcephaly, autosomal recessive2Nov 19, 2021
    Peroxisome biogenesis disorder 12A (Zellweger)1Nov 19, 2021
    Persistent Mullerian duct syndrome2Nov 19, 2021
    Peters plus syndrome3Nov 19, 2021
    Phelan-McDermid syndrome4Nov 19, 2021
    Phenylketonuria43Nov 19, 2021
    Phytanic acid storage disease1Nov 19, 2021
    Pigmentary retinal dystrophy3Nov 19, 2021
    Pigmented nodular adrenocortical disease, primary, 22Nov 19, 2021
    Pitt-Hopkins-like syndrome 23Nov 19, 2021
    Pituitary hormone deficiency, combined, 24Nov 19, 2021
    Platelet-type bleeding disorder 1018Nov 19, 2021
    Platelet-type bleeding disorder 111Nov 19, 2021
    Platelet-type bleeding disorder 201Nov 19, 2021
    Polycystic kidney disease 21Nov 19, 2021
    Polycystic kidney disease 430Nov 19, 2021
    Polycystic kidney disease, adult type5Nov 19, 2021
    Polycystic liver disease 11Nov 19, 2021
    Polycystic liver disease 22Nov 19, 2021
    Polyglandular autoimmune syndrome, type 16Nov 19, 2021
    Polyhydramnios, megalencephaly, and symptomatic epilepsy1Nov 19, 2021
    Pontocerebellar hypoplasia type 1A2Nov 19, 2021
    Pontocerebellar hypoplasia type 1B5Nov 19, 2021
    Pontocerebellar hypoplasia type 64Nov 19, 2021
    Pontocerebellar hypoplasia type 72Nov 19, 2021
    Pontocerebellar hypoplasia, type 113Nov 19, 2021
    Porokeratosis 7, multiple types1Nov 19, 2021
    Posterior column ataxia-retinitis pigmentosa syndrome2Nov 19, 2021
    Premature ovarian failure 101Nov 19, 2021
    Premature ovarian failure 52Nov 19, 2021
    Primary ciliary dyskinesia 103Nov 19, 2021
    Primary ciliary dyskinesia 111Nov 19, 2021
    Primary ciliary dyskinesia 121Nov 19, 2021
    Primary ciliary dyskinesia 131Nov 19, 2021
    Primary ciliary dyskinesia 145Nov 19, 2021
    Primary ciliary dyskinesia 155Nov 19, 2021
    Primary ciliary dyskinesia 171Nov 19, 2021
    Primary ciliary dyskinesia 195Nov 19, 2021
    Primary ciliary dyskinesia 25Nov 19, 2021
    Primary ciliary dyskinesia 204Nov 19, 2021
    Primary ciliary dyskinesia 212Nov 19, 2021
    Primary ciliary dyskinesia 221Nov 19, 2021
    Primary ciliary dyskinesia 234Nov 19, 2021
    Primary ciliary dyskinesia 244Nov 19, 2021
    Primary ciliary dyskinesia 289Nov 19, 2021
    Primary ciliary dyskinesia 292Nov 19, 2021
    Primary ciliary dyskinesia 313Nov 19, 2021
    Primary ciliary dyskinesia 301Nov 19, 2021
    Primary ciliary dyskinesia 321Nov 19, 2021
    Primary ciliary dyskinesia 331Nov 19, 2021
    Primary ciliary dyskinesia 351Nov 19, 2021
    Primary ciliary dyskinesia 58Nov 19, 2021
    Primary ciliary dyskinesia 710Nov 19, 2021
    Primary hyperoxaluria, type I12Nov 19, 2021
    Primary hyperoxaluria, type II6Nov 19, 2021
    Primary hypomagnesemia1Nov 19, 2021
    Progressive myoclonic epilepsy type 32Nov 19, 2021
    Progressive myoclonic epilepsy type 64Nov 19, 2021
    Progressive pseudorheumatoid dysplasia3Nov 19, 2021
    Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome1Nov 19, 2021
    Prolidase deficiency1Nov 19, 2021
    Propionic acidemia16Nov 19, 2021
    Protoporphyria, erythropoietic, 11Nov 19, 2021
    Proximal myopathy with extrapyramidal signs3Nov 19, 2021
    Pseudo-TORCH syndrome 12Nov 19, 2021
    Pseudohypoaldosteronism type 2D1Nov 19, 2021
    Pulmonary hypertension, primary, 22Nov 19, 2021
    Purine-nucleoside phosphorylase deficiency3Nov 19, 2021
    Pyknodysostosis1Nov 19, 2021
    Pyogenic bacterial infections due to MyD88 deficiency1Nov 19, 2021
    Pyridoxal phosphate-responsive seizures3Nov 19, 2021
    Pyridoxine-dependent epilepsy12Nov 19, 2021
    Pyruvate carboxylase deficiency2Nov 19, 2021
    Pyruvate dehydrogenase E1-alpha deficiency7Nov 19, 2021
    Pyruvate dehydrogenase E3 deficiency2Nov 19, 2021
    Pyruvate dehydrogenase E3-binding protein deficiency3Nov 19, 2021
    RAB23-related Carpenter syndrome1Nov 19, 2021
    RIDDLE syndrome1Nov 19, 2021
    Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome1Nov 19, 2021
    Renal carnitine transport defect16Nov 19, 2021
    Renal hypodysplasia/aplasia 11Nov 19, 2021
    Renal tubular acidosis with progressive nerve deafness6Nov 19, 2021
    Retinal cone dystrophy 3A1Nov 19, 2021
    Retinal cone dystrophy 43Nov 19, 2021
    Retinitis pigmentosa 15Nov 19, 2021
    Retinitis pigmentosa 2517Nov 19, 2021
    Retinitis pigmentosa 264Nov 19, 2021
    Retinitis pigmentosa 272Nov 19, 2021
    Retinitis pigmentosa 285Nov 19, 2021
    Retinitis pigmentosa 433Nov 19, 2021
    Retinitis pigmentosa 453Nov 19, 2021
    Retinitis pigmentosa 492Nov 19, 2021
    Retinitis pigmentosa 621Nov 19, 2021
    Retinitis pigmentosa 72Nov 19, 2021
    Retinitis pigmentosa 751Nov 19, 2021
    Retinoblastoma2Nov 19, 2021
    Rett syndrome, congenital variant2Nov 19, 2021
    Rhizomelic chondrodysplasia punctata type 21Nov 19, 2021
    Rothmund-Thomson syndrome type 11Nov 19, 2021
    SCOTT SYNDROME5Nov 19, 2021
    SIN3A-related intellectual disability syndrome due to a point mutation1Nov 19, 2021
    SLC39A8-CDG1Nov 19, 2021
    Sandhoff disease5Nov 19, 2021
    Schaaf-Yang syndrome2Nov 19, 2021
    Schimke immuno-osseous dysplasia3Nov 19, 2021
    Schneckenbecken dysplasia1Nov 19, 2021
    Schuurs-Hoeijmakers syndrome1Nov 19, 2021
    Seckel syndrome 101Nov 19, 2021
    Seizures, benign familial neonatal, 21Nov 19, 2021
    Senior-Loken syndrome 55Nov 19, 2021
    Septo-optic dysplasia sequence1Nov 19, 2021
    Severe X-linked myotubular myopathy8Nov 19, 2021
    Severe combined immunodeficiency due to CTPS1 deficiency1Nov 19, 2021
    Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency10Nov 19, 2021
    Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome3Nov 19, 2021
    Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome2Nov 19, 2021
    Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome1Nov 19, 2021
    Short stature, microcephaly, and endocrine dysfunction1Nov 19, 2021
    Short stature-brachydactyly-obesity-global developmental delay syndrome3Nov 19, 2021
    Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome1Nov 19, 2021
    Short-rib thoracic dysplasia 11 with or without polydactyly4Nov 19, 2021
    Short-rib thoracic dysplasia 19 with or without polydactyly2Nov 19, 2021
    Short-rib thoracic dysplasia 6 with or without polydactyly3Nov 19, 2021
    Shwachman-Diamond syndrome 14Nov 19, 2021
    Sialidosis type 24Nov 19, 2021
    Sideroblastic anemia 22Nov 19, 2021
    Sifrim-Hitz-Weiss syndrome1Nov 19, 2021
    Simpson-Golabi-Behmel syndrome type 11Nov 19, 2021
    Sitosterolemia 17Nov 19, 2021
    Sitosterolemia 21Nov 19, 2021
    Sjögren-Larsson syndrome6Nov 19, 2021
    Smith-Lemli-Opitz syndrome13Nov 19, 2021
    Snijders Blok-Campeau syndrome1Nov 19, 2021
    Sorbitol dehydrogenase deficiency with peripheral neuropathy1Nov 19, 2021
    Sotos syndrome 16Nov 19, 2021
    Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy2Nov 19, 2021
    Spastic paraplegia 52, autosomal recessive1Nov 19, 2021
    Spastic paraplegia-severe developmental delay-epilepsy syndrome2Nov 19, 2021
    Specific granule deficiency 11Nov 19, 2021
    Specific granule deficiency 21Nov 19, 2021
    Spermatogenic failure 141Nov 19, 2021
    Spermatogenic failure 162Nov 19, 2021
    Spermatogenic failure 171Nov 19, 2021
    Spermatogenic failure 201Nov 19, 2021
    Spermatogenic failure 311Nov 19, 2021
    Spermatogenic failure 371Nov 19, 2021
    Spermatogenic failure 491Nov 19, 2021
    Spermatogenic failure 91Nov 19, 2021
    Spinocerebellar ataxia type 111Nov 19, 2021
    Spinocerebellar ataxia type 351Nov 19, 2021
    Spinocerebellar ataxia, autosomal recessive 271Nov 19, 2021
    Sponastrime dysplasia3Nov 19, 2021
    Spondylocostal dysostosis 1, autosomal recessive3Nov 19, 2021
    Spondylocostal dysostosis 53Nov 19, 2021
    Spondylometaphyseal dysplasia, Sedaghatian type1Nov 19, 2021
    Spongy degeneration of central nervous system6Nov 19, 2021
    Steel syndrome2Nov 19, 2021
    Stromme syndrome6Nov 19, 2021
    Structural heart defects and renal anomalies syndrome3Nov 19, 2021
    Stuve-Wiedemann syndrome3Nov 19, 2021
    Succinate-semialdehyde dehydrogenase deficiency4Nov 19, 2021
    Succinyl-CoA acetoacetate transferase deficiency4Nov 19, 2021
    Sucrase-isomaltase deficiency6Nov 19, 2021
    Sulfite oxidase deficiency1Nov 19, 2021
    Surfactant metabolism dysfunction, pulmonary, 21Nov 19, 2021
    Syndromic X-linked intellectual disability 142Nov 19, 2021
    Syndromic X-linked intellectual disability Siderius type1Nov 19, 2021
    T-B+ severe combined immunodeficiency due to JAK3 deficiency2Nov 19, 2021
    TARP syndrome1Nov 19, 2021
    TCF12-related craniosynostosis1Nov 19, 2021
    TELO2-related intellectual disability-neurodevelopmental disorder2Nov 19, 2021
    THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome2Nov 19, 2021
    Tay-Sachs disease14Nov 19, 2021
    Tay-Sachs disease, variant AB1Nov 19, 2021
    Telangiectasia, hereditary hemorrhagic, type 12Nov 19, 2021
    Telangiectasia, hereditary hemorrhagic, type 23Nov 19, 2021
    Testosterone 17-beta-dehydrogenase deficiency4Nov 19, 2021
    Thyroid dyshormonogenesis 616Nov 19, 2021
    Thyroid hormone metabolism, abnormal 11Nov 19, 2021
    Thyroxine-binding globulin quantitative trait locus1Nov 19, 2021
    Tooth agenesis, selective, 72Nov 19, 2021
    Townes-Brocks syndrome 11Nov 19, 2021
    Transcobalamin II deficiency1Nov 19, 2021
    Transketolase deficiency1Nov 19, 2021
    Treacher Collins syndrome 11Nov 19, 2021
    Trichohepatoenteric syndrome 15Nov 19, 2021
    Trichohepatoenteric syndrome 24Nov 19, 2021
    Triglyceride storage disease with ichthyosis1Nov 19, 2021
    Trimethylaminuria5Nov 19, 2021
    Troyer syndrome2Nov 19, 2021
    Tuberous sclerosis 27Nov 19, 2021
    Tumoral calcinosis, hyperphosphatemic, familial, 11Nov 19, 2021
    Type II complement component 8 deficiency4Nov 19, 2021
    Tyrosinemia type I7Nov 19, 2021
    UDPglucose-4-epimerase deficiency2Nov 19, 2021
    Uncombable hair syndrome 11Nov 19, 2021
    Unverricht-Lundborg syndrome3Nov 19, 2021
    Upshaw-Schulman syndrome3Nov 19, 2021
    Urofacial syndrome type 13Nov 19, 2021
    Usher syndrome type 1G2Nov 19, 2021
    Van den Ende-Gupta syndrome1Nov 19, 2021
    Vanishing white matter disease10Nov 19, 2021
    Very long chain acyl-CoA dehydrogenase deficiency21Nov 19, 2021
    Vesicoureteral reflux 86Nov 19, 2021
    Vici syndrome3Nov 19, 2021
    Vitamin D hydroxylation-deficient rickets, type 1B1Nov 19, 2021
    Vitamin D-dependent rickets, type 1A5Nov 19, 2021
    Warsaw breakage syndrome1Nov 19, 2021
    Werner syndrome5Nov 19, 2021
    Wiedemann-Steiner syndrome4Nov 19, 2021
    Wilson disease35Nov 19, 2021
    Wolcott-Rallison dysplasia1Nov 19, 2021
    Woodhouse-Sakati syndrome1Nov 19, 2021
    X-linked Alport syndrome7Nov 19, 2021
    X-linked Emery-Dreifuss muscular dystrophy3Nov 19, 2021
    X-linked chondrodysplasia punctata 12Nov 19, 2021
    X-linked ichthyosis with steryl-sulfatase deficiency2Nov 19, 2021
    X-linked intellectual disability Cabezas type1Nov 19, 2021
    X-linked intellectual disability, Cantagrel type2Nov 19, 2021
    X-linked intellectual disability-cerebellar hypoplasia syndrome1Nov 19, 2021
    X-linked lymphoproliferative disease due to XIAP deficiency1Nov 19, 2021
    Xanthinuria type II2Nov 19, 2021
    Xeroderma pigmentosum variant type1Nov 19, 2021
    Xeroderma pigmentosum, group C3Nov 19, 2021
    Young adult-onset distal hereditary motor neuropathy1Nov 19, 2021
    ZTTK syndrome4Nov 19, 2021
    not provided5051Nov 19, 2021
    p phenotype8Nov 19, 2021

    Testing in GTR

    Disease nameNumber of tests
    3-methylcrotonyl-CoA carboxylase 2 deficiency1 test
    Arginase deficiency1 test
    Argininosuccinate lyase deficiency1 test
    Autoinflammatory Autoimmune1 test
    Biotinidase deficiency1 test
    COVID-192 tests
    Carnitine acylcarnitine translocase deficiency1 test
    Carnitine palmitoyl transferase 1A deficiency1 test
    Carnitine palmitoyltransferase II deficiency1 test
    Citrullinemia type I1 test
    Congenital hyperammonemia, type I1 test
    Congenital hypothyroidism1 test
    Cystic fibrosis1 test
    Deficiency of 2-methylbutyryl-CoA dehydrogenase1 test
    Deficiency of 3-hydroxyacyl-CoA dehydrogenase1 test
    Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase1 test
    Deficiency of acetyl-CoA acetyltransferase1 test
    Deficiency of butyryl-CoA dehydrogenase1 test
    Deficiency of hydroxymethylglutaryl-CoA lyase1 test
    Deficiency of isobutyryl-CoA dehydrogenase1 test
    Deficiency of malonyl-CoA decarboxylase1 test
    Fabry disease1 test
    Facioscapulohumeral muscular dystrophy 11 test
    G6PD deficiency1 test
    GTP cyclohydrolase I deficiency1 test
    Galactosylceramide beta-galactosidase deficiency1 test
    Gaucher disease1 test
    Glutaric aciduria, type 11 test
    Glycogen storage disease, type II1 test
    Hb SS disease1 test
    Hepatic methionine adenosyltransferase deficiency1 test
    Hereditary disease466 tests
    Holocarboxylase synthetase deficiency1 test
    Homocystinuria due to methylene tetrahydrofolate reductase deficiency1 test
    Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome1 test
    Isovaleryl-CoA dehydrogenase deficiency1 test
    Maple syrup urine disease1 test
    Maple syrup urine disease type 1A1 test
    Medium chain 3-ketoacyl-Coa thiolase deficiency1 test
    Medium-chain acyl-coenzyme A dehydrogenase deficiency1 test
    Methylcrotonyl-CoA carboxylase deficiency1 test
    Mitochondrial trifunctional protein deficiency2 tests
    Mucopolysaccharidosis1 test
    Multiple acyl-CoA dehydrogenase deficiency1 test
    Niemann-Pick disease, type A1 test
    Niemann-Pick disease, type B1 test
    Ornithine aminotransferase deficiency1 test
    Phenylketonuria1 test
    Progressive encephalopathy with leukodystrophy due to DECR deficiency1 test
    Propionic acidemia2 tests
    Severe combined immunodeficiency disease1 test
    Tyrosinemia type I1 test
    Tyrosinemia type II1 test
    Tyrosinemia type III1 test
    Very long chain acyl-CoA dehydrogenase deficiency1 test
    beta Thalassemia1 test
    Support Center