Hypohidrotic ectodermal dysplasia, x-linked

Disease Term Disease ID Gene Symbol Classification References Source
Christ-Siemens-Touraine syndrome C0162359 EDA Causal Pathogenic evidence from ClinVar 8696334, 9507389, 9630076, 9683615, 9736768, 10469321, 10951256, 11279189, 11295832, 11309369, 11343303, 11378824, 11416205, 12225002, 12932274, 12949972, 14656435, 15663448, 16583127, 17256800, 17970812, 18076698, 18231121, 18386312, 18510547, 18666859, 18821982, 19127222, 19278982, 19438931, 19623212, 20236127, 20486090, 20979233, 21357618, 21457804, 22008666, 22032522, 22350046, 22428923, 22875504, 23553579, 23744313, 23926003, 23991204, 24312213, 24487376, 24724966, 25333067, 26273176, 26753551, 27054699, 27144394, 27305980, 27657131 ClinVar
EDA2R Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22889853 -
EDAR Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
EDARADD Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 20222921, 25206167 -
X-linked hypohidrotic ectodermal dysplasia 181 EDA Causal Pathogenic evidence from ClinVar - ClinVar
EDA2R Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Autosomal dominant hypohidrotic ectodermal dysplasia syndrome (disorder) C0265331 EDAR Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
EDARADD Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
KDF1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 27838789 -
TRAF6 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -