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Disorder Names

  • Ectodermal dysplasias (ANTXR1, ARID1B, CDH3, CTSC, CTSK, DKC1, DLX3, EDA, EDAR, EDARADD, ERCC2, EVC, EV....)
  • Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome (ANTXR1, ARID1B, CDH3, CTSC, CTSK, DKC1, DLX3, EDA, EDAR, EDARADD, ERCC2, EVC, EV....)
  • Ehlers-Danlos syndrome (ABCC6, ADAMTS2, ALDH18A1, ANTXR2, ATP6V0A2, ATP7A, B4GALT7, BANF1, CHST14, COL1A....)
  • Ellis-van Creveld syndrome (ANTXR1, ARID1B, CDH3, CTSC, CTSK, DKC1, DLX3, EDA, EDAR, EDARADD, ERCC2, EVC, EV....)
  • Emberger syndrome (ACVRL1, CCBE1, CCM2, ENG, F12, FLT4, GATA2, GLMN, HRAS, KRIT1, PDCD10, PTEN, PTP....)
  • Emery-Dreifuss muscular dystrophy (ANO5, ASAH1, ASCC1, ATP7A, B3GNT1, BAG3, BIN1, BSCL2, CAPN3, CAV3, CHKB, CLCN1, ....)
  • Epidermolysis bullosa (AQP5, ATP2A2, ATP2C1, CDSN, CHST8, COL17A1, COL7A1, CSTA, DSC3, DSG1, DSP, DST, ....)
  • Epilepsy (AARS, ACTB, ACY1, ADGRV1, ADRA2B, ADSL, AFG3L2, AGTR2, AKT3, ALDH7A1, ALG13, AMT....)
  • Epilepsy, pyridoxine-dependent (ABCD4, ALDH7A1, AMN, BTD, CD320, CUBN, DHFR, FOLR1, GCH1, GGCX, GIF, GPHN, HLCS,....)
  • Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE (ABCA12, ABHD5, ALDH3A2, ALOX12B, ALOXE3, AP1S1, AQP5, ARSE, ATP2A2, BRAF, CARD14....)
  • Erythrokeratodermia variabilis (ABCA12, ABHD5, ALDH3A2, ALOX12B, ALOXE3, AP1S1, AQP5, ARSE, ATP2A2, BRAF, CARD14....)
  • Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis (AARS, ABCB6, ACO2, AFG3L2, AK2, BTD, C19orf12, CISD2, COX4I2, CPS1, CYCS, CYP11A....)
  • Ectrodactyly with/without other manifestations (CDH3, DLX5, FBXW4, FGFR1, PORCN, TP63, WNT10B, WNT7A....)
  • Ehlers-Danlos syndrome (ADCY6, B4GALT7, CHRNA1, CHRNB1, CHRND, CHRNG, CHST14, COLEC11, DNM2, DOK7, EFNB1....)
  • Eiken syndrome (ACP5, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL2, AGPS, AIRE, ALG9, ALX4, ANKH, ANKRD11....)
  • Endocrine-cerebroosteodysplasia (CC2D2A,CEP290,EVC, EVC2, FAM58A,FBLN1, FGF10, FGFR2, FGFR3, FRAS1, FREM2, GJA1, ....)
  • Endometrial cancer (BRCA1, BRCA2, CHEK2, EPCAM, MLH1, MSH2, MSH6, PMS2, PTEN, STK11, TP53....)
  • Epiphyseal dysplasia, multiple (ACP5, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL2, AGPS, AIRE, ALG9, ALX4, ANKH, ANKRD11....)
  • Escobar syndrome (ADCY6, B4GALT7, CHRNA1, CHRNB1, CHRND, CHRNG, CHST14, COLEC11, DNM2, DOK7, EFNB1....)
  • Even-plus syndrome (ACP5, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL2, AGPS, AIRE, ALG9, ALX4, ANKH, ANKRD11....)
  • Edwards' Syndrome (Trisomy 18) (NA....)
  • EARS2 (EARS2....)
  • EBAG9 (EBAG9....)
  • EBP (EBP....)
  • ECE1 (ECE1....)
  • ECI1 (ECI1....)
  • ECM1 (ECM1....)
  • ECM2 (ECM2....)
  • ECSIT (ECSIT....)
  • EDA (EDA....)
  • EDA2R (EDA2R....)
  • EDAR (EDAR....)
  • EDARADD (EDARADD....)
  • EDN1 (EDN1....)
  • EDN2 (EDN2....)
  • EDN3 (EDN3....)
  • EDNRA (EDNRA....)
  • EDNRB (EDNRB....)
  • EEF1B2 (EEF1B2....)
  • EEF2K (EEF2K....)
  • EFCAB5 (EFCAB5....)
  • EFEMP1 (EFEMP1....)
  • EFEMP2 (EFEMP2....)
  • EFHC1 (EFHC1....)
  • EFHC2 (EFHC2....)
  • EFNB1 (EFNB1....)
  • EFR3A (EFR3A....)
  • EFTUD2 (EFTUD2....)
  • EGF (EGF....)
  • EGFR (EGFR....)
  • EGLN1 (EGLN1....)
  • EGR2 (EGR2....)
  • EGR3 (EGR3....)
  • EHD2 (EHD2....)
  • EHMT1 (EHMT1....)
  • EHMT2 (EHMT2....)
  • EIF2AK3 (EIF2AK3....)
  • EIF2B1 (EIF2B1....)
  • EIF2B2 (EIF2B2....)
  • EIF2B3 (EIF2B3....)
  • EIF2B4 (EIF2B4....)
  • EIF2B5 (EIF2B5....)
  • EIF3H (EIF3H....)
  • EIF4E (EIF4E....)
  • EIF4G1 (EIF4G1....)
  • ELAC2 (ELAC2....)
  • ELANE (ELANE....)
  • ELAVL2 (ELAVL2....)
  • ELF4 (ELF4....)
  • ELK1 (ELK1....)
  • ELN (ELN....)
  • ELOVL4 (ELOVL4....)
  • ELP2 (ELP2....)
  • ELP4 (ELP4....)
  • EMC4 (EMC4....)
  • EMD (EMD....)
  • EME1 (EME1....)
  • EMG1 (EMG1....)
  • EMX2 (EMX2....)
  • EN2 (EN2....)
  • ENAM (ENAM....)
  • ENG (ENG....)
  • ENO1 (ENO1....)
  • ENO3 (ENO3....)
  • ENPP1 (ENPP1....)
  • ENSA (ENSA....)
  • ENTPD1 (ENTPD1....)
  • EOMES (EOMES....)
  • EP300 (EP300....)
  • EPAS1 (EPAS1....)
  • EPB41 (EPB41....)
  • EPB41L1 (EPB41L1....)
  • EPB42 (EPB42....)
  • EPC2 (EPC2....)
  • EPCAM (EPCAM....)
  • EPHA2 (EPHA2....)
  • EPHA3 (EPHA3....)
  • EPHA5 (EPHA5....)
  • EPHA7 (EPHA7....)
  • EPHB2 (EPHB2....)
  • EPHB6 (EPHB6....)
  • EPHX1 (EPHX1....)
  • EPHX2 (EPHX2....)
  • EPM2A (EPM2A....)
  • EPO (EPO....)
  • EPOR (EPOR....)
  • EPX (EPX....)
  • ERAP1 (ERAP1....)
  • ERAP2 (ERAP2....)
  • ERBB2 (ERBB2....)
  • ERBB3 (ERBB3....)
  • ERBB4 (ERBB4....)
  • ERCC1 (ERCC1....)
  • ERCC2 (ERCC2....)
  • ERCC3 (ERCC3....)
  • ERCC4 (ERCC4....)
  • ERCC5 (ERCC5....)
  • ERCC6 (ERCC6....)
  • ERCC8 (ERCC8....)
  • ERLIN2 (ERLIN2....)
  • ERMAP (ERMAP....)
  • ESAM (ESAM....)
  • ESCO2 (ESCO2....)
  • ESPN (ESPN....)
  • ESR1 (ESR1....)
  • ESR2 (ESR2....)
  • ESRRB (ESRRB....)
  • ESRRG (ESRRG....)
  • ETFA (ETFA....)
  • ETFB (ETFB....)
  • ETFDH (ETFDH....)
  • ETHE1 (ETHE1....)
  • ETNPPL (ETNPPL....)
  • ETS1 (ETS1....)
  • EVC (EVC....)
  • EVC2 (EVC2....)
  • EVI5 (EVI5....)
  • EXO1 (EXO1....)
  • EXO5 (EXO5....)
  • EXOC4 (EXOC4....)
  • EXOSC3 (EXOSC3....)
  • EXT1 (EXT1....)
  • EXT2 (EXT2....)
  • EXTL3 (EXTL3....)
  • EYA1 (EYA1....)
  • EYA4 (EYA4....)
  • EYS (EYS....)
  • EZH2 (EZH2....)
  • Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency (CARD9, CXCR4, FCGR3A, IKBKG, IL17F, IL17RA, IRAK4, MBL2, MCM4, MYD88, NFKBIA, ST....)
  • Ectodermal dysplasia, hypohidrotic, with immune deficiency (CARD9, CXCR4, FCGR3A, IKBKG, IL17F, IL17RA, IRAK4, MBL2, MCM4, MYD88, NFKBIA, ST....)
  • Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency (CARD9, CXCR4, FCGR3A, IKBKG, IL17F, IL17RA, IRAK4, MBL2, MCM4, MYD88, NFKBIA, ST....)
  • Epidermodysplasia verruciformis (CARD9, CXCR4, FCGR3A, IKBKG, IL17F, IL17RA, IRAK4, MBL2, MCM4, MYD88, NFKBIA, ST....)