Ectodermal dysplasia

Disease Term Disease ID Gene Symbol Classification References Source
Ectodermal Dysplasia C0013575 EDA Causal Pathogenic evidence from ClinVar - ClinVar
EDAR Causal Pathogenic evidence from ClinVar 16435307 ClinVar
EDARADD Causal Pathogenic evidence from ClinVar - ClinVar
HOXC13 Causal Pathogenic evidence from ClinVar - ClinVar
IKBKG Causal Pathogenic evidence from ClinVar - ClinVar
RHOA Causal Pathogenic evidence from ClinVar 31570889 ClinVar
BMS1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
CDH3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
CLPB Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
DHX40 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
EVC Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
EVC2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
GJB6 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
IFT122 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
IFT43 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ITGB4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 18348258 -
KRT14 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
MBTPS2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
NECTIN1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
NECTIN4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT C3888065 EDAR Causal Pathogenic evidence from ClinVar 10431241, 16435307, 18231121, 22032522 ClinVar
ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE C3887494 EDAR Causal Pathogenic evidence from ClinVar 10431241, 15373768, 16029325, 16435307, 17125505, 18231121, 19438931, 20979233, 22032522, 23401279, 24641098, 24884697, 26336973, 27305980, 27657131 ClinVar
EDARADD Causal Pathogenic evidence from ClinVar - ClinVar
ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT C3541517 EDAR Causal Pathogenic evidence from ClinVar 10431241, 20979233, 23401279, 24641098 ClinVar
EDARADD Causal Pathogenic evidence from ClinVar 17354266, 20222921, 20979233, 25206167 ClinVar
Ectodermal Dysplasia 3, Anhidrotic C1720965 EDAR Causal Pathogenic evidence from ClinVar - ClinVar
EDARADD Causal Pathogenic evidence from ClinVar - ClinVar
Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive C0406702 EDAR Causal Pathogenic evidence from ClinVar - ClinVar
EDARADD Causal Pathogenic evidence from ClinVar - ClinVar
ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT C4310894 EDARADD Causal Pathogenic evidence from ClinVar - ClinVar
ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE C3539920 EDARADD Causal Pathogenic evidence from ClinVar 11780064, 17354266, 20222921, 25206167 ClinVar
ECTODERMAL DYSPLASIA 9, HAIR/NAIL TYPE C3554127 HOXC13 Causal Pathogenic evidence from ClinVar 23063621, 28297138 ClinVar
HOXC13-AS Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Ectodermal Dysplasia, Pure Hair-Nail Type C1865951 HOXC13 Causal Pathogenic evidence from ClinVar 23063621, 24239177 ClinVar
KRT85 Causal Pathogenic evidence from ClinVar 16525032, 19865094 ClinVar
KRT74 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 24714551 -
Pure hair and nail ectodermal dysplasia 69084 HOXC13 Causal Pathogenic evidence from ClinVar - ClinVar
KRT85 Causal Pathogenic evidence from ClinVar - ClinVar
KRT74 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema C1845919 IKBKG Causal Pathogenic evidence from ClinVar 11047757, 11242109, 16818673 ClinVar
Ectodermal dysplasia, hypohidrotic, with immune deficiency C1846006 IKBKG Causal Pathogenic evidence from ClinVar 15833888, 16532398, 16818673, 16950813, 17072331, 18851874, 21622647, 24682681, 26117626, 29077208 ClinVar
NFKBIA Causal Pathogenic evidence from ClinVar 18412279 ClinVar
ECTODERMAL DYSPLASIA 12, HYPOHIDROTIC/HAIR/TOOTH/NAIL TYPE C4310616 KDF1 Causal Pathogenic evidence from ClinVar 27838789 ClinVar
ECTODERMAL DYSPLASIA 13, HAIR/TOOTH TYPE C4479322 KREMEN1 Causal Pathogenic evidence from ClinVar 27049303 ClinVar
Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant C2677481 NFKBIA Causal Pathogenic evidence from ClinVar 14523047, 18412279, 23239958 ClinVar
ECTODERMAL DYSPLASIA 14, HAIR/TOOTH TYPE WITH HYPOHIDROSIS C4749123 TSPEAR Causal Pathogenic evidence from ClinVar - ClinVar
ECTODERMAL DYSPLASIA 14, HAIR/TOOTH TYPE WITH OR WITHOUT HYPOHIDROSIS C4748560 TSPEAR Causal Pathogenic evidence from ClinVar 27736875 ClinVar
Ectodermal dysplasia, ectrodactyly, and macular dystrophy C1857041 CDH3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 12445216, 15805154, 22140374 -
Ectodermal dysplasia/ skin fragility syndrome C1858302 DSP Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ECTODERMAL DYSPLASIA 7, HAIR/NAIL TYPE C3554117 KRT74 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 24714551 -