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Disorder Names

  • Aarskog-Scott syndrome (ACSL4, ADNP, AFF2, AGTR2, AHI1, ANK3, ANKRD11, AP1S1, AP1S2, AP3B2, ARFGEF2, ARH....)
  • Abetalipoproteinaemia (ABCA1, ABCG5, ABCG8, ACAT2, AGPAT2, ANGPTL3, APOA1, APOA2, APOA5, APOB, APOC2, A....)
  • Ablepharon-macrostomia syndrome (ANTXR1, APCDD1, ATP7A, BCS1L, BRAF, CDH3, CDSN, CLDN1, DCAF17, DLX3, DSC3, DSG1,....)
  • Abnormal mineralization disorders (ALPL, ANKH, CASR, CDC73, CLCN5, CYP27B1, CYP2R1, DLX3, DMP1, ENPP1, FAH, FGF23, ....)
  • ACAT2 deficiency (ABCA1, ABCG5, ABCG8, ACAT2, AGPAT2, ANGPTL3, APOA1, APOA2, APOA5, APOB, APOC2, A....)
  • Acatalasaemia / catalase deficiency (ABCD1, ACACA, ACAD9, ACADL, ACADM, ACADS, ACADSB, ACADVL, ACOX1, AGPS, AMACR, CA....)
  • Aceruloplasminemia (HFE, ABCB6, ATP7A, ATP7B, CLDN16, CLDN19, CNNM2, CP, EGF, FTH1, FXYD2, HAMP, HFE....)
  • Acetyl-CoA carboxylase deficiency (ABCD1, ACACA, ACAD9, ACADL, ACADM, ACADS, ACADSB, ACADVL, ACOX1, AGPS, AMACR, CA....)
  • Acheiropody (ARHGAP31, B4GALT7, BMPR1B, COL11A2, COL2A1, COMP, DHODH, DLX5, DOCK6, DYM, ESCO2....)
  • Achondrogenesis (ACP5, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL2, AGPS, AIRE, ALG9, ALX4, ANKH, ANKRD11....)
  • Achondroplasia (ACP5, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL2, AGPS, AIRE, ALG9, ALX4, ANKH, ANKRD11....)
  • Acrocallosal syndrome (ACTB, ACTG1, ADGRG1, AHI1, AKT3, AP1S2, ARFGEF2, ARL13B, ASNS, ASPA, ASXL1, ATP6....)
  • Acrocallosal syndrome (ARL6, B9D1, B9D2, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, C8orf37, CC2....)
  • Acrocapitofemoral dysplasia (ACP5, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL2, AGPS, AIRE, ALG9, ALX4, ANKH, ANKRD11....)
  • Acrodermatitis enteropathica (ANTXR1, APCDD1, ATP7A, BCS1L, BRAF, CDH3, CDSN, CLDN1, DCAF17, DLX3, DSC3, DSG1,....)
  • Acrodysostosis (ACTB, ACTG1, ADAMTSL2, AGA, ALX1, ALX4, ARSB, BMPER, CDC6, CDT1, CHST3, COG1, CO....)
  • Acromesomelic chondrodysplasia (ARHGAP31, B4GALT7, BMPR1B, COL11A2, COL2A1, COMP, DHODH, DLX5, DOCK6, DYM, ESCO2....)
  • Acromicric dysplasia (ACP5, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL2, AGPS, AIRE, ALG9, ALX4, ANKH, ANKRD11....)
  • Action myoclonus renal failure (APRT, CC2D2A, CEP290,CLCN5, COL4A3, COL4A4, COQ2, DCDC2, GLIS2, IFT140, IFT43, I....)
  • Acyl-CoA dehydrogenase long-chain deficiency (ABCD1, ACACA, ACAD9, ACADL, ACADM, ACADS, ACADSB, ACADVL, ACOX1, AGPS, AMACR, CA....)
  • Acyl-CoA dehydrogenase, medium chain, deficiency (ABCD1, ACACA, ACAD9, ACADL, ACADM, ACADS, ACADSB, ACADVL, ACOX1, AGPS, AMACR, CA....)
  • Adenine phosphoribosyltransferase deficiency (APRT, CC2D2A, CEP290,CLCN5, COL4A3, COL4A4, COQ2, DCDC2, GLIS2, IFT140, IFT43, I....)
  • Adenine phosphoribosyltransferase deficiency (ADA, ADAR, ADSL, AMPD1, APRT, ATIC, DGUOK, DHODH, DPYD, DPYS, HPRT1, IFIH1, ITPA....)
  • Adenosine deaminase deficiency, partial (ADA, ADAR, ADSL, AMPD1, APRT, ATIC, DGUOK, DHODH, DPYD, DPYS, HPRT1, IFIH1, ITPA....)
  • Adenylosuccinase deficiency (ADA, ADAR, ADSL, AMPD1, APRT, ATIC, DGUOK, DHODH, DPYD, DPYS, HPRT1, IFIH1, ITPA....)
  • Adermatoglyphia (ABCC6, ADAMTS2, ALDH18A1, ANTXR2, ATP6V0A2, ATP7A, B4GALT7, BANF1, CHST14, COL1A....)
  • Adipose tissue disorders (AGPAT2, ALMS1, BANF1, BSCL2, CAV1, CIDEC, CREBBP, EP300, FADD, FAS, FASLG, GNAS,....)
  • Adrenal hyperplasia (ABCA1, ABCG5, ABCG8, ACAT2, AGPAT2, ANGPTL3, APOA1, APOA2, APOA5, APOB, APOC2, A....)
  • ADULT syndrome (Acro-dermato-ungual-lacrimaltooth syndrome) (ARHGAP31, B4GALT7, BMPR1B, COL11A2, COL2A1, COMP, DHODH, DLX5, DOCK6, DYM, ESCO2....)
  • ADULT syndrome (Acro-dermato-ungual-lacrimaltooth syndrome) (AIRE, ANTXR1, ARHGAP31, ARID1A, ARID1B, ATP2A2, ATP2C1, CDAN1, CDH3, COL17A1, CO....)
  • Agenesis of the corpus callosum (ACTB, ACTG1, ADGRG1, AHI1, AKT3, AP1S2, ARFGEF2, ARL13B, ASNS, ASPA, ASXL1, ATP6....)
  • Aicardi-goutieres syndrome (ABCD4, ACTB, ADAR, AIMP1, AKT3, ALG12, ALG3, AP3B1, AP4E1, AP4M1, ARFGEF2, ARG1,....)
  • Aicardi-Goutieres syndrome (ADA, ADAR, ADSL, AMPD1, APRT, ATIC, DGUOK, DHODH, DPYD, DPYS, HPRT1, IFIH1, ITPA....)
  • Aicardi-Goutières Syndrome (AARS2, ABCD1, ACOX1, ADAR, AIMP1, APP, ARSA, ASPA, CLCN2, COX10, COX15, CSF1R, C....)
  • AICA-ribosiduria due to ATIC deficiency (ADA, ADAR, ADSL, AMPD1, APRT, ATIC, DGUOK, DHODH, DPYD, DPYS, HPRT1, IFIH1, ITPA....)
  • Alagille syndrome (ABCA1, ABCG5, ABCG8, ACAT2, AGPAT2, ANGPTL3, APOA1, APOA2, APOA5, APOB, APOC2, A....)
  • Albinism, oculocutaneous (ABCB6, ADAM10, ADAR, AP3B1, BLOC1S6, C10orf11, DKC1, DTNBP1, EDN3, EDNRB, GPR143....)
  • Albright hereditary osteodystrophy (AGPAT2, ALMS1, BANF1, BSCL2, CAV1, CIDEC, CREBBP, EP300, FADD, FAS, FASLG, GNAS,....)
  • Alexander disease (AARS2, ABCD1, ACOX1, ADAR, AIMP1, APP, ARSA, ASPA, CLCN2, COX10, COX15, CSF1R, C....)
  • Alkaptonuria (AASS, ABCD4, ACAD8, ACADSB, ACAT1, ACSF3, ACY1, ADK, AHCY, ALDH18A1, ALDH4A1, AL....)
  • Allan-Herndon-Dudley syndrome (ACSL4, ADNP, AFF2, AGTR2, AHI1, ANK3, ANKRD11, AP1S1, AP1S2, AP3B2, ARFGEF2, ARH....)
  • Alopecia universalis congenital (ANTXR1, APCDD1, ATP7A, BCS1L, BRAF, CDH3, CDSN, CLDN1, DCAF17, DLX3, DSC3, DSG1,....)
  • Alpha thalassemia X-linked intellectual disability syndrome (ABCB7, ALAD, ALAS2, ANK1, ATRX, CPOX, CYB5A, CYB5R3, CYCS, EPB42, FECH, FTH1, GA....)
  • 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,....)
  • Atelosteogenesis (ADCY6, B4GALT7, CHRNA1, CHRNB1, CHRND, CHRNG, CHST14, COLEC11, DNM2, DOK7, EFNB1....)
  • A2M (A2M....)
  • A4GALT (A4GALT....)
  • A4GNT (A4GNT....)
  • AAAS (AAAS....)
  • AADAC (AADAC....)
  • AADACL2 (AADACL2....)
  • AANAT (AANAT....)
  • AARS (AARS....)
  • AARS2 (AARS2....)
  • AASS (AASS....)
  • ABAT (ABAT....)
  • ABCA1 (ABCA1....)
  • ABCA10 (ABCA10....)
  • ABCA12 (ABCA12....)
  • ABCA13 (ABCA13....)
  • ABCA2 (ABCA2....)
  • ABCA3 (ABCA3....)
  • ABCA4 (ABCA4....)
  • ABCA7 (ABCA7....)
  • ABCB1 (ABCB1....)
  • ABCB11 (ABCB11....)
  • ABCB4 (ABCB4....)
  • ABCB6 (ABCB6....)
  • ABCB7 (ABCB7....)
  • ABCC1 (ABCC1....)
  • ABCC11 (ABCC11....)
  • ABCC2 (ABCC2....)
  • ABCC3 (ABCC3....)
  • ABCC4 (ABCC4....)
  • ABCC6 (ABCC6....)
  • ABCC8 (ABCC8....)
  • ABCC9 (ABCC9....)
  • ABCD1 (ABCD1....)
  • ABCD3 (ABCD3....)
  • ABCD4 (ABCD4....)
  • ABCG1 (ABCG1....)
  • ABCG2 (ABCG2....)
  • ABCG5 (ABCG5....)
  • ABCG8 (ABCG8....)
  • ABHD12 (ABHD12....)
  • ABHD5 (ABHD5....)
  • ABI3BP (ABI3BP....)
  • ABO (ABO....)
  • ACACA (ACACA....)
  • ACACB (ACACB....)
  • ACAD8 (ACAD8....)
  • ACAD9 (ACAD9....)
  • ACADL (ACADL....)
  • ACADM (ACADM....)
  • ACADS (ACADS....)
  • ACADSB (ACADSB....)
  • ACADVL (ACADVL....)
  • ACAN (ACAN....)
  • ACAT1 (ACAT1....)
  • ACAT2 (ACAT2....)
  • ACBD5 (ACBD5....)
  • ACBD6 (ACBD6....)
  • ACCS (ACCS....)
  • ACE (ACE....)
  • ACHE (ACHE....)
  • ACLY (ACLY....)
  • ACO2 (ACO2....)
  • ACOX1 (ACOX1....)
  • ACP5 (ACP5....)
  • ACSF3 (ACSF3....)
  • ACSL4 (ACSL4....)
  • ACSL5 (ACSL5....)
  • ACSM2B (ACSM2B....)
  • ACSM3 (ACSM3....)
  • ACTA1 (ACTA1....)
  • ACTA2 (ACTA2....)
  • ACTB (ACTB....)
  • ACTC1 (ACTC1....)
  • ACTG1 (ACTG1....)
  • ACTN2 (ACTN2....)
  • ACTN3 (ACTN3....)
  • ACTN4 (ACTN4....)
  • ACVR1 (ACVR1....)
  • ACVR1B (ACVR1B....)
  • ACVR1C (ACVR1C....)
  • ACVR2B (ACVR2B....)
  • ACVRL1 (ACVRL1....)
  • ACY1 (ACY1....)
  • ADA (ADA....)
  • ADAM10 (ADAM10....)
  • ADAM12 (ADAM12....)
  • ADAM17 (ADAM17....)
  • ADAM19 (ADAM19....)
  • ADAM33 (ADAM33....)
  • ADAM7 (ADAM7....)
  • ADAM9 (ADAM9....)
  • ADAMTS10 (ADAMTS10....)
  • ADAMTS13 (ADAMTS13....)
  • ADAMTS16 (ADAMTS16....)
  • ADAMTS17 (ADAMTS17....)
  • ADAMTS18 (ADAMTS18....)
  • ADAMTS2 (ADAMTS2....)
  • ADAMTSL2 (ADAMTSL2....)
  • ADAMTSL3 (ADAMTSL3....)
  • ADAMTSL4 (ADAMTSL4....)
  • ADAR (ADAR....)
  • ADARB1 (ADARB1....)
  • ADC (ADC....)
  • ADCK3 (ADCK3....)
  • ADCY10 (ADCY10....)
  • ADCY3 (ADCY3....)
  • ADCY5 (ADCY5....)
  • ADCY6 (ADCY6....)
  • ADCY9 (ADCY9....)
  • ADCYAP1 (ADCYAP1....)
  • ADD1 (ADD1....)
  • ADH1B (ADH1B....)
  • ADH1C (ADH1C....)
  • ADH4 (ADH4....)
  • ADH5 (ADH5....)
  • ADH7 (ADH7....)
  • ADIPOQ (ADIPOQ....)
  • ADIPOR1 (ADIPOR1....)
  • ADK (ADK....)
  • ADM (ADM....)
  • ADNP (ADNP....)
  • ADORA1 (ADORA1....)
  • ADORA2A (ADORA2A....)
  • ADORA3 (ADORA3....)
  • ADRA1A (ADRA1A....)
  • ADRA2A (ADRA2A....)
  • ADRA2B (ADRA2B....)
  • ADRA2C (ADRA2C....)
  • ADRB1 (ADRB1....)
  • ADRB2 (ADRB2....)
  • ADRB3 (ADRB3....)
  • ADRBK2 (ADRBK2....)
  • ADSL (ADSL....)
  • ADTRP (ADTRP....)
  • AFF2 (AFF2....)
  • AFF3 (AFF3....)
  • AFG3L2 (AFG3L2....)
  • AFP (AFP....)
  • AGA (AGA....)
  • AGBL4 (AGBL4....)
  • AGER (AGER....)
  • AGGF1 (AGGF1....)
  • AGK (AGK....)
  • AGL (AGL....)
  • AGMO (AGMO....)
  • AGO1 (AGO1....)
  • AGO2 (AGO2....)
  • AGPAT2 (AGPAT2....)
  • AGPS (AGPS....)
  • AGRN (AGRN....)
  • AGRP (AGRP....)
  • AGT (AGT....)
  • AGTR1 (AGTR1....)
  • AGTR2 (AGTR2....)
  • AGXT (AGXT....)
  • AGXT2 (AGXT2....)
  • AHCY (AHCY....)
  • AHI1 (AHI1....)
  • AHR (AHR....)
  • AHRR (AHRR....)
  • AHSG (AHSG....)
  • AHSP (AHSP....)
  • AICDA (AICDA....)
  • AIF1 (AIF1....)
  • AIFM1 (AIFM1....)
  • AIMP1 (AIMP1....)
  • AIP (AIP....)
  • AIPL1 (AIPL1....)
  • AIRE (AIRE....)
  • AK1 (AK1....)
  • AK2 (AK2....)
  • AKAP10 (AKAP10....)
  • AKAP13 (AKAP13....)
  • AKAP2 (AKAP2....)
  • AKAP9 (AKAP9....)
  • AKR1B1 (AKR1B1....)
  • AKR1C2 (AKR1C2....)
  • AKR1C3 (AKR1C3....)
  • AKR1C4 (AKR1C4....)
  • AKR1D1 (AKR1D1....)
  • AKR7A2 (AKR7A2....)
  • AKR7A3 (AKR7A3....)
  • AKT1 (AKT1....)
  • AKT2 (AKT2....)
  • AKT3 (AKT3....)
  • ALAD (ALAD....)
  • ALAS2 (ALAS2....)
  • ALB (ALB....)
  • ALCAM (ALCAM....)
  • ALDH16A1 (ALDH16A1....)
  • ALDH18A1 (ALDH18A1....)
  • ALDH1A1 (ALDH1A1....)
  • ALDH1A2 (ALDH1A2....)
  • ALDH2 (ALDH2....)
  • ALDH3A2 (ALDH3A2....)
  • ALDH4A1 (ALDH4A1....)
  • ALDH5A1 (ALDH5A1....)
  • ALDH6A1 (ALDH6A1....)
  • ALDH7A1 (ALDH7A1....)
  • ALDOA (ALDOA....)
  • ALDOB (ALDOB....)
  • ALG1 (ALG1....)
  • ALG10B (ALG10B....)
  • ALG11 (ALG11....)
  • ALG12 (ALG12....)
  • ALG13 (ALG13....)
  • ALG2 (ALG2....)
  • ALG3 (ALG3....)
  • ALG6 (ALG6....)
  • ALG8 (ALG8....)
  • ALG9 (ALG9....)
  • ALK (ALK....)
  • ALMS1 (ALMS1....)
  • ALOX12 (ALOX12....)
  • ALOX12B (ALOX12B....)
  • ALOX15 (ALOX15....)
  • ALOX5 (ALOX5....)
  • ALOX5AP (ALOX5AP....)
  • ALOXE3 (ALOXE3....)
  • ALPL (ALPL....)
  • ALS2 (ALS2....)
  • ALS2CL (ALS2CL....)
  • ALX1 (ALX1....)
  • ALX3 (ALX3....)
  • ALX4 (ALX4....)
  • AMACR (AMACR....)
  • AMELX (AMELX....)
  • AMELY (AMELY....)
  • AMER1 (AMER1....)
  • AMH (AMH....)
  • AMHR2 (AMHR2....)
  • AMN (AMN....)
  • AMPD1 (AMPD1....)
  • AMPD3 (AMPD3....)
  • AMT (AMT....)
  • ANAPC1 (ANAPC1....)
  • ANG (ANG....)
  • ANGPT1 (ANGPT1....)
  • ANGPTL3 (ANGPTL3....)
  • ANGPTL4 (ANGPTL4....)
  • ANGPTL5 (ANGPTL5....)
  • ANK1 (ANK1....)
  • ANK2 (ANK2....)
  • ANK3 (ANK3....)
  • ANKH (ANKH....)
  • ANKK1 (ANKK1....)
  • ANKRD1 (ANKRD1....)
  • ANKRD11 (ANKRD11....)
  • ANKRD26 (ANKRD26....)
  • ANKS1A (ANKS1A....)
  • ANKS1B (ANKS1B....)
  • ANO10 (ANO10....)
  • ANO5 (ANO5....)
  • ANO6 (ANO6....)
  • ANO7 (ANO7....)
  • ANTXR1 (ANTXR1....)
  • ANTXR2 (ANTXR2....)
  • ANXA11 (ANXA11....)
  • ANXA5 (ANXA5....)
  • AOAH (AOAH....)
  • AOC1 (AOC1....)
  • AP1S1 (AP1S1....)
  • AP1S2 (AP1S2....)
  • AP3B1 (AP3B1....)
  • AP3B2 (AP3B2....)
  • AP4B1 (AP4B1....)
  • AP4E1 (AP4E1....)
  • AP4M1 (AP4M1....)
  • AP4S1 (AP4S1....)
  • AP5Z1 (AP5Z1....)
  • APAF1 (APAF1....)
  • APBA2 (APBA2....)
  • APBB1 (APBB1....)
  • APBB3 (APBB3....)
  • APC (APC....)
  • APCDD1 (APCDD1....)
  • APEX1 (APEX1....)
  • APH1A (APH1A....)
  • APH1B (APH1B....)
  • APLNR (APLNR....)
  • APOA1 (APOA1....)
  • APOA2 (APOA2....)
  • APOA4 (APOA4....)
  • APOA5 (APOA5....)
  • APOB (APOB....)
  • APOBEC3B (APOBEC3B....)
  • APOBEC3G (APOBEC3G....)
  • APOBEC3H (APOBEC3H....)
  • APOC1 (APOC1....)
  • APOC2 (APOC2....)
  • APOC3 (APOC3....)
  • APOC4 (APOC4....)
  • APOD (APOD....)
  • APOE (APOE....)
  • APOH (APOH....)
  • APOL1 (APOL1....)
  • APOL3 (APOL3....)
  • APOM (APOM....)
  • APP (APP....)
  • APRT (APRT....)
  • APTX (APTX....)
  • AQP1 (AQP1....)
  • AQP2 (AQP2....)
  • AQP3 (AQP3....)
  • AQP4 (AQP4....)
  • AQP5 (AQP5....)
  • AQP7 (AQP7....)
  • AR (AR....)
  • AREL1 (AREL1....)
  • ARF4 (ARF4....)
  • ARFGEF2 (ARFGEF2....)
  • ARG1 (ARG1....)
  • ARHGAP24 (ARHGAP24....)
  • ARHGAP31 (ARHGAP31....)
  • ARHGAP6 (ARHGAP6....)
  • ARHGAP9 (ARHGAP9....)
  • ARHGEF10 (ARHGEF10....)
  • ARHGEF11 (ARHGEF11....)
  • ARHGEF12 (ARHGEF12....)
  • ARHGEF6 (ARHGEF6....)
  • ARHGEF7 (ARHGEF7....)
  • ARHGEF9 (ARHGEF9....)
  • ARID1A (ARID1A....)
  • ARID1B (ARID1B....)
  • ARL11 (ARL11....)
  • ARL13B (ARL13B....)
  • ARL14EP (ARL14EP....)
  • ARL6 (ARL6....)
  • ARL6IP5 (ARL6IP5....)
  • ARMS2 (ARMS2....)
  • ARPC3 (ARPC3....)
  • ARSA (ARSA....)
  • ARSB (ARSB....)
  • ARSE (ARSE....)
  • ARSF (ARSF....)
  • ART4 (ART4....)
  • ARVCF (ARVCF....)
  • ARX (ARX....)
  • AS3MT (AS3MT....)
  • ASAH1 (ASAH1....)
  • ASAH2 (ASAH2....)
  • ASB10 (ASB10....)
  • ASCC1 (ASCC1....)
  • ASCC3 (ASCC3....)
  • ASCL1 (ASCL1....)
  • ASIC3 (ASIC3....)
  • ASIP (ASIP....)
  • ASL (ASL....)
  • ASMT (ASMT....)
  • ASMTL (ASMTL....)
  • ASNS (ASNS....)
  • ASPA (ASPA....)
  • ASPM (ASPM....)
  • ASPN (ASPN....)
  • ASPRV1 (ASPRV1....)
  • ASS1 (ASS1....)
  • ASTN2 (ASTN2....)
  • ASXL1 (ASXL1....)
  • ATCAY (ATCAY....)
  • ATF1 (ATF1....)
  • ATF3 (ATF3....)
  • ATF5 (ATF5....)
  • ATF6 (ATF6....)
  • ATG16L1 (ATG16L1....)
  • ATG7 (ATG7....)
  • ATIC (ATIC....)
  • ATL1 (ATL1....)
  • ATM (ATM....)
  • ATN1 (ATN1....)
  • ATOH7 (ATOH7....)
  • ATP10A (ATP10A....)
  • ATP10D (ATP10D....)
  • ATP13A2 (ATP13A2....)
  • ATP13A4 (ATP13A4....)
  • ATP1A2 (ATP1A2....)
  • ATP1A3 (ATP1A3....)
  • ATP1B1 (ATP1B1....)
  • ATP2A1 (ATP2A1....)
  • ATP2A2 (ATP2A2....)
  • ATP2A3 (ATP2A3....)
  • ATP2B2 (ATP2B2....)
  • ATP2B4 (ATP2B4....)
  • ATP2C1 (ATP2C1....)
  • ATP5E (ATP5E....)
  • ATP5SL (ATP5SL....)
  • ATP6AP2 (ATP6AP2....)
  • ATP6V0A1 (ATP6V0A1....)
  • ATP6V0A2 (ATP6V0A2....)
  • ATP6V0A4 (ATP6V0A4....)
  • ATP6V1B1 (ATP6V1B1....)
  • ATP7A (ATP7A....)
  • ATP7B (ATP7B....)
  • ATP8A2 (ATP8A2....)
  • ATP8B1 (ATP8B1....)
  • ATPAF2 (ATPAF2....)
  • ATR (ATR....)
  • ATRNL1 (ATRNL1....)
  • ATRX (ATRX....)
  • ATXN1 (ATXN1....)
  • ATXN10 (ATXN10....)
  • ATXN2 (ATXN2....)
  • ATXN3 (ATXN3....)
  • ATXN3L (ATXN3L....)
  • ATXN7 (ATXN7....)
  • ATXN8OS (ATXN8OS....)
  • AUH (AUH....)
  • AURKA (AURKA....)
  • AURKC (AURKC....)
  • AUTS2 (AUTS2....)
  • AVP (AVP....)
  • AVPR1A (AVPR1A....)
  • AVPR1B (AVPR1B....)
  • AVPR2 (AVPR2....)
  • AXIN1 (AXIN1....)
  • AXIN2 (AXIN2....)
  • AXL (AXL....)
  • Autoinflammation, antibody deficiency, and immune dysregulation syndrome (ADAM17, CARD14, DNASE1L3, IL10RA, IL10RB, IL1RN, IL36RN, LPIN2, MEFV, MVK, NLRP1....)
  • Autoinflammation, lipodystrophy, and dermatosis syndrome (ADAM17, CARD14, DNASE1L3, IL10RA, IL10RB, IL1RN, IL36RN, LPIN2, MEFV, MVK, NLRP1....)
  • Autoinflammatory syndrome, familial, Behcet-like (ADAM17, CARD14, DNASE1L3, IL10RA, IL10RB, IL1RN, IL36RN, LPIN2, MEFV, MVK, NLRP1....)
  • Autoinflammatory disorders (ADAM17, CARD14, DNASE1L3, IL10RA, IL10RB, IL1RN, IL36RN, LPIN2, MEFV, MVK, NLRP1....)
  • Ataxia-telangiectasia (ADA, AK2, ATM, B2M, BCL10, BLM, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD8....)
  • Autoimmune disease, multisystem, infantile-onset, 1 (ADA, AK2, ATM, B2M, BCL10, BLM, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD8....)
  • Autoimmune disease, multisystem, infantile-onset, 2 (ADA, AK2, ATM, B2M, BCL10, BLM, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD8....)
  • Alpha-Mannosidosis (CEBPE, CSF2RA, CSF3R, CYBA, CYBB, ELANE, FERMT3, G6PC3, GATA2, GFI1, HAX1, IFNGR....)
  • Autoimmune disease, multisystem, with facial dysmorphism (ACP5, AIRE, AP3B1, BLOC1S6, CASP10, CASP8, CD27, CTLA4, FADD, FAS, FASLG, IL10RA....)
  • Autoimmune lymphoproliferative syndrome, type IA (ACP5, AIRE, AP3B1, BLOC1S6, CASP10, CASP8, CD27, CTLA4, FADD, FAS, FASLG, IL10RA....)
  • Autoimmune lymphoproliferative syndrome, type IB (ACP5, AIRE, AP3B1, BLOC1S6, CASP10, CASP8, CD27, CTLA4, FADD, FAS, FASLG, IL10RA....)
  • Autoimmune lymphoproliferative syndrome, type II (ACP5, AIRE, AP3B1, BLOC1S6, CASP10, CASP8, CD27, CTLA4, FADD, FAS, FASLG, IL10RA....)
  • Autoimmune lymphoproliferative syndrome, type IIB (ACP5, AIRE, AP3B1, BLOC1S6, CASP10, CASP8, CD27, CTLA4, FADD, FAS, FASLG, IL10RA....)
  • Autoimmune lymphoproliferative syndrome, type V (ACP5, AIRE, AP3B1, BLOC1S6, CASP10, CASP8, CD27, CTLA4, FADD, FAS, FASLG, IL10RA....)
  • Autoimmune polyendocrinopathy syndrome, type I, with or without reversible metaphyseal dysplasia (ACP5, AIRE, AP3B1, BLOC1S6, CASP10, CASP8, CD27, CTLA4, FADD, FAS, FASLG, IL10RA....)
  • Agammaglobulinemia 2 (AICDA, BLNK, BTK, CD19, CD40, CD40LG, CD79A, CD79B, CD81, CR2, CXCR4, ICOS, IGLL....)
  • Agammaglobulinemia 3 (AICDA, BLNK, BTK, CD19, CD40, CD40LG, CD79A, CD79B, CD81, CR2, CXCR4, ICOS, IGLL....)
  • Agammaglobulinemia 4 (AICDA, BLNK, BTK, CD19, CD40, CD40LG, CD79A, CD79B, CD81, CR2, CXCR4, ICOS, IGLL....)
  • Agammaglobulinemia 6 (AICDA, BLNK, BTK, CD19, CD40, CD40LG, CD79A, CD79B, CD81, CR2, CXCR4, ICOS, IGLL....)
  • Agammaglobulinemia 7, autosomal recessive (AICDA, BLNK, BTK, CD19, CD40, CD40LG, CD79A, CD79B, CD81, CR2, CXCR4, ICOS, IGLL....)
  • Agammaglobulinemia and isolated hormone deficiency (AICDA, BLNK, BTK, CD19, CD40, CD40LG, CD79A, CD79B, CD81, CR2, CXCR4, ICOS, IGLL....)
  • Agammaglobulinemia, X-linked 1 (AICDA, BLNK, BTK, CD19, CD40, CD40LG, CD79A, CD79B, CD81, CR2, CXCR4, ICOS, IGLL....)
  • Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete (AKR1C2, AR, CBX2, CYP11A1, DHCR7, DHH, DMRT1, HSD17B3, LHCGR, MAP3K1, NR0B1, NR5....)
  • Androgen insensitivity (AKR1C2, AR, CBX2, CYP11A1, DHCR7, DHH, DMRT1, HSD17B3, LHCGR, MAP3K1, NR0B1, NR5....)
  • Aromatase deficiency (CYP11B1, CYP17A1, CYP19A1, CYP21A2, HSD3B2, NR3C1, POR, STAR....)
  • Aromatase excess syndrome (CYP11B1, CYP17A1, CYP19A1, CYP21A2, HSD3B2, NR3C1, POR, STAR....)