Nephrogenic diabetes insipidus

Disease Term Disease ID Gene Symbol Classification References Source
ADH-Resistant Diabetes Insipidus C3542500 AQP2 Causal Pathogenic evidence from ClinVar 16121255, 18653713, 18854434, 20374732 ClinVar
AVPR2 Causal Pathogenic evidence from ClinVar 12414899, 14998935, 19703807, 19729836, 20374732 ClinVar
PRKCA Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 25006961 -
Congenital Nephrogenic Diabetes Insipidus C0677501 AQP2 Causal Pathogenic evidence from ClinVar 16121255, 18653713, 18854434, 20374732 ClinVar
AVPR2 Causal Pathogenic evidence from ClinVar 12414899, 14998935, 19703807, 19729836, 20374732 ClinVar
PRKCA Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 25006961 -
Nephrogenic diabetes insipidus 223 AQP2 Causal Pathogenic evidence from ClinVar - ClinVar
AVPR2 Causal Pathogenic evidence from ClinVar - ClinVar
Nephrogenic Diabetes Insipidus C0162283 AQP2 Causal Pathogenic evidence from ClinVar 15509592, 16121255, 18653713, 18854434, 20374732 ClinVar
AVPR2 Causal Pathogenic evidence from ClinVar 12414899, 14998935, 19703807, 19729836, 20374732, 26828532 ClinVar
BBS1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
CCDC28B Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
PRKCA Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 25006961 -
Nephrogenic Diabetes Insipidus, Type I C1563705 AQP2 Causal Pathogenic evidence from ClinVar 16121255, 18653713, 18854434, 20374732 ClinVar
AVPR2 Causal Pathogenic evidence from ClinVar 1303257, 1303271, 1356229, 7560098, 7833930, 7984150, 7987330, 7999078, 8037205, 8045948, 8078903, 8267567, 8479490, 8514744, 9402087, 9452109, 9711877, 10694923, 10770218, 11026555, 11232028, 11916004, 12414899, 14998935, 15872203, 16845277, 19703807, 19729836, 20374732, 26828532 ClinVar
PRKCA Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 25006961 -
Nephrogenic Diabetes Insipidus, Type II C1563706 AQP2 Causal Pathogenic evidence from ClinVar 7524315, 8140421, 8882880, 9048343, 9302264, 9402087, 9550615, 9649557, 9745427, 11536078, 12050236, 12191971, 15509592, 16120822, 16121255, 16361827, 16845277, 17192724, 18653713, 18854434, 19458121, 19585583, 19701945, 20374732, 24944815, 27641679 ClinVar
AVPR2 Causal Pathogenic evidence from ClinVar 12414899, 14998935, 19703807, 19729836, 20374732 ClinVar
PRKCA Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 25006961 -