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Disorder Names

  • Alpha-1-antitrypsin deficiency (AGPAT2, ALMS1, BANF1, BSCL2, CAV1, CIDEC, CREBBP, EP300, FADD, FAS, FASLG, GNAS,....)
  • Alpha-dystroglycanopathy (ANO5, ASAH1, ASCC1, ATP7A, B3GNT1, BAG3, BIN1, BSCL2, CAPN3, CAV3, CHKB, CLCN1, ....)
  • Alpha-methylacetoacetic aciduria (AASS, ABCD4, ACAD8, ACADSB, ACAT1, ACSF3, ACY1, ADK, AHCY, ALDH18A1, ALDH4A1, AL....)
  • Alpha-methylacetoacetic aciduria (AARS2, ACAD8, ACAD9, ACADL, ACADM, ACADS, ACADSB, ACADVL, ACAT1, AGK, AIFM1, AMA....)
  • Alpha-methylacyl-CoA racemase deficiency (ABCD1, ACACA, ACAD9, ACADL, ACADM, ACADS, ACADSB, ACADVL, ACOX1, AGPS, AMACR, CA....)
  • Alport syndrome (COL4A3, COL4A4, COL4A5, MYH9....)
  • Alström syndrome (AGPAT2, ALMS1, BANF1, BSCL2, CAV1, CIDEC, CREBBP, EP300, FADD, FAS, FASLG, GNAS,....)
  • Amyloidosis, Finnish type (ALDH18A1, ATP6V0A2, ATP7A, BLM, EFEMP2, ELN, FBLN5, GGCX, GORAB, GSN, HRAS, LMNA....)
  • Amyloidotic polyneuropathy (AARS, ABCD1, ABHD12, AIFM1, ALDH18A1, AP1S1, ARHGEF10, ATL1, ATP7A, BSCL2, C10or....)
  • Amyotrophic lateral sclerosis (ALS2, ANG, APEX1, CHMP2B, DAO, DCTN1, ERBB4, FIG4, FUS, GLE1, GRN, MATR3, NEFH, ....)
  • Anauxetic dysplasia (ARHGAP31, B4GALT7, BMPR1B, COL11A2, COL2A1, COMP, DHODH, DLX5, DOCK6, DYM, ESCO2....)
  • Andermann syndrome (AARS, ABCD1, ABHD12, AIFM1, ALDH18A1, AP1S1, ARHGEF10, ATL1, ATP7A, BSCL2, C10or....)
  • Andermann syndrome (ACTB, ACTG1, ADGRG1, AHI1, AKT3, AP1S2, ARFGEF2, ARL13B, ASNS, ASPA, ASXL1, ATP6....)
  • Andersen-Tawil syndrome (ABCC9, ACTC1, AKAP9, ANK2, ANK3, CACNA1C, CACNA1D, CACNA2D1, CACNB2, CALM1, CASQ....)
  • Angelman syndrome (ACSL4, ADNP, AFF2, AGTR2, AHI1, ANK3, ANKRD11, AP1S1, AP1S2, AP3B2, ARFGEF2, ARH....)
  • Angioedema, hereditary (ACVRL1, CCBE1, CCM2, ENG, F12, FLT4, GATA2, GLMN, HRAS, KRIT1, PDCD10, PTEN, PTP....)
  • Ankyloblepharon-ectodermal defects-cleft lip and palate syndrome (AIRE, ANTXR1, ARHGAP31, ARID1A, ARID1B, ATP2A2, ATP2C1, CDAN1, CDH3, COL17A1, CO....)
  • Antley-Bixler syndrome (ABCB11, ABCB4, ABCD3, AKR1D1, AMACR, ATP8B1, BAAT, CYP27A1, CYP7B1, DHCR24, DHCR....)
  • Antley-Bixler syndrome (ACTB, ACTG1, ADAMTSL2, AGA, ALX1, ALX4, ARSB, BMPER, CDC6, CDT1, CHST3, COG1, CO....)
  • Apert syndrome (ACTB, ACTG1, ADAMTSL2, AGA, ALX1, ALX4, ARSB, BMPER, CDC6, CDT1, CHST3, COG1, CO....)
  • Argininemia (AASS, ABCD4, ACAD8, ACADSB, ACAT1, ACSF3, ACY1, ADK, AHCY, ALDH18A1, ALDH4A1, AL....)
  • Argininosuccinic aciduria (AASS, ABCD4, ACAD8, ACADSB, ACAT1, ACSF3, ACY1, ADK, AHCY, ALDH18A1, ALDH4A1, AL....)
  • Arrhythmias (ABCC9, ACTC1, AKAP9, ANK2, ANK3, CACNA1C, CACNA1D, CACNA2D1, CACNB2, CALM1, CASQ....)
  • Arrhythmogenic Right Ventricular Cardiomyopathy/ Dysplasia (ABCC9, ACE, ACTC1, ACTN2, AGT, ANKRD1, BAG3, BMP10, CASQ2, CHRM2, COX15, CRYAB, ....)
  • Arterial tortuosity syndrome (ABCC6, ADAMTS2, ALDH18A1, ANTXR2, ATP6V0A2, ATP7A, B4GALT7, BANF1, CHST14, COL1A....)
  • Arthrogryposis (ADCY6, B4GALT7, CHRNA1, CHRNB1, CHRND, CHRNG, CHST14, COLEC11, DNM2, DOK7, EFNB1....)
  • Arts syndrome (ACSL4, ADNP, AFF2, AGTR2, AHI1, ANK3, ANKRD11, AP1S1, AP1S2, AP3B2, ARFGEF2, ARH....)
  • Asparagine synthetase deficiency (AASS, ABCD4, ACAD8, ACADSB, ACAT1, ACSF3, ACY1, ADK, AHCY, ALDH18A1, ALDH4A1, AL....)
  • Aspartylglucosaminuria (AGA, AP3B1, ARSA, ARSB, ASAH1, ATP13A2, BLOC1S6, CLN3, CLN5, CLN6, CLN8, CTNS, C....)
  • Asphyxiating thoracic dystrophy (ARL6, B9D1, B9D2, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, C8orf37, CC2....)
  • Ataxia (ABCB7, ABHD12, ADCK3, AFG3L2, ANO10, APTX, ATCAY, ATM, ATP13A2, ATP1A3, ATP8A2, ....)
  • Ataxia with isolated vitamin E deficiency (ABCD4, ALDH7A1, AMN, BTD, CD320, CUBN, DHFR, FOLR1, GCH1, GGCX, GIF, GPHN, HLCS,....)
  • Ataxia-telangiectasia (ABCB7, ABHD12, ADCK3, AFG3L2, ANO10, APTX, ATCAY, ATM, ATP13A2, ATP1A3, ATP8A2, ....)
  • Ataxia-telangiectasia (ATM....)
  • Atrichia with papular lesions (ANTXR1, APCDD1, ATP7A, BCS1L, BRAF, CDH3, CDSN, CLDN1, DCAF17, DLX3, DSC3, DSG1,....)
  • ATRX syndrome (ACSL4, ADNP, AFF2, AGTR2, AHI1, ANK3, ANKRD11, AP1S1, AP1S2, AP3B2, ARFGEF2, ARH....)
  • Atypical hemolytic uremic syndrome (C3, CD46, CFB, CFH, CFHR1, CFHR3, CFHR4, CFHR5, CFI, THBD....)
  • Autism spectrum disorders (ADNP, ADSL, AFF2, AUTS2, CDKL5, CHD8, DHCR7, DYRK1A, FMR1, FOXP1, GABRB3, GRIA3,....)
  • Autoimmune lymphoproliferative syndrome (AGPAT2, ALMS1, BANF1, BSCL2, CAV1, CIDEC, CREBBP, EP300, FADD, FAS, FASLG, GNAS,....)
  • Autoinflammation, lipodystrophy, and dermatosis syndrome (AGPAT2, ALMS1, BANF1, BSCL2, CAV1, CIDEC, CREBBP, EP300, FADD, FAS, FASLG, GNAS,....)
  • Baller-Gerold syndrome (BLM, CTC1, DKC1, FERMT1, NHP2, NOP10, RECQL4, TERC, TERT, TINF2, USB1, WRAP53....)
  • Atelosteogenesis (ADCY6, B4GALT7, CHRNA1, CHRNB1, CHRND, CHRNG, CHST14, COLEC11, DNM2, DOK7, EFNB1....)
  • Bannayan-Riley-Ruvalcaba syndrome (ACVRL1, CCBE1, CCM2, ENG, F12, FLT4, GATA2, GLMN, HRAS, KRIT1, PDCD10, PTEN, PTP....)
  • Bannayan-Riley-Ruvalcaba syndrome (ABCC9, ADK, AKT3, AMER1, ANKH, ARSB, ASPA, B4GALT1, B4GALT7, BANF1, BRWD3, CUL4B....)
  • Baller-Gerold syndrome (ADCY6, B4GALT7, CHRNA1, CHRNB1, CHRND, CHRNG, CHST14, COLEC11, DNM2, DOK7, EFNB1....)
  • Bannayan-Riley-Ruvalcaba syndrome (ACP5, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL2, AGPS, AIRE, ALG9, ALX4, ANKH, ANKRD11....)
  • Barakat syndrome (ABCG2, AHI1, ALDH16A1, ALMS1, ANOS1, BCS1L, C3, CCBE1, CD151, CDC73, CEP41, CFH,....)
  • Barber-Say syndrome (ANTXR1, ARID1B, CDH3, CTSC, CTSK, DKC1, DLX3, EDA, EDAR, EDARADD, ERCC2, EVC, EV....)
  • Bannayan-Riley-Ruvalcaba syndrome (BRRS) (APC, BMPR1A, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, PMS2, PTEN, SMAD4, STK....)
  • Bardet-Biedl syndrome (ARL6, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, C8orf37, CEP290, LZTFL1,....)