Pseudohypoaldosteronism

Disease Term Disease ID Gene Symbol Classification References Source
Pseudohypoaldosteronism C0033805 CUL3 Causal Pathogenic evidence from ClinVar - ClinVar
KLHL3 Causal Pathogenic evidence from ClinVar 22406640 ClinVar
NR3C2 Causal Pathogenic evidence from ClinVar - ClinVar
SCNN1B Causal Pathogenic evidence from ClinVar - ClinVar
SCNN1G Causal Pathogenic evidence from ClinVar 8640238 ClinVar
WNK4 Causal Pathogenic evidence from ClinVar 22949526 ClinVar
GNAS Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
GNAS-AS1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
SCNN1A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 11752024 -
Pseudohypoaldosteronism type 2E 300530 CUL3 Causal Pathogenic evidence from ClinVar - ClinVar
Pseudohypoaldosteronism, Type I, Autosomal Dominant C1449842 CUL3 Causal Pathogenic evidence from ClinVar - ClinVar
KLHL3 Causal Pathogenic evidence from ClinVar 22406640 ClinVar
NR3C2 Causal Pathogenic evidence from ClinVar 11134129, 12483305, 12788847, 16757525, 16954160, 16972228, 19571553 ClinVar
SCNN1B Causal Pathogenic evidence from ClinVar - ClinVar
SCNN1G Causal Pathogenic evidence from ClinVar 8640238 ClinVar
WNK4 Causal Pathogenic evidence from ClinVar 22949526 ClinVar
GNAS Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
GNAS-AS1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Pseudohypoaldosteronism, Type II C1449844 CUL3 Causal Pathogenic evidence from ClinVar - ClinVar
KLHL3 Causal Pathogenic evidence from ClinVar 22406640 ClinVar
NR3C2 Causal Pathogenic evidence from ClinVar - ClinVar
SCNN1B Causal Pathogenic evidence from ClinVar - ClinVar
SCNN1G Causal Pathogenic evidence from ClinVar 8640238 ClinVar
WNK4 Causal Pathogenic evidence from ClinVar 22949526 ClinVar
GNAS Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
GNAS-AS1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Pseudohypoaldosteronism, Type IIa C1840389 CUL3 Causal Pathogenic evidence from ClinVar - ClinVar
PSEUDOHYPOALDOSTERONISM, TYPE IIE C3469606 CUL3 Causal Pathogenic evidence from ClinVar 22266938 ClinVar
Pseudohypoaldosteronism type 2D 300525 KLHL3 Causal Pathogenic evidence from ClinVar - ClinVar
Pseudohypoaldosteronism, Type I C0268436 KLHL3 Causal Pathogenic evidence from ClinVar 22406640 ClinVar
NR3C2 Causal Pathogenic evidence from ClinVar - ClinVar
SCNN1B Causal Pathogenic evidence from ClinVar - ClinVar
SCNN1G Causal Pathogenic evidence from ClinVar 8640238 ClinVar
WNK4 Causal Pathogenic evidence from ClinVar 22949526 ClinVar
GNAS Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
GNAS-AS1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Pseudohypoaldosteronism, Type I, Autosomal Recessive C1449843 KLHL3 Causal Pathogenic evidence from ClinVar 22406640 ClinVar
NR3C2 Causal Pathogenic evidence from ClinVar - ClinVar
SCNN1B Causal Pathogenic evidence from ClinVar 8589714, 15483078, 19571553, 23426840, 23837941, 31018202 ClinVar
SCNN1G Causal Pathogenic evidence from ClinVar 8640238, 11231969, 17634077, 19571553, 26537344 ClinVar
WNK4 Causal Pathogenic evidence from ClinVar 22949526 ClinVar
GNAS Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
GNAS-AS1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
PSEUDOHYPOALDOSTERONISM, TYPE IID C3469605 KLHL3 Causal Pathogenic evidence from ClinVar 22266938, 22406640, 23387299, 23453970, 23576762, 23665031, 26435498, 27026694, 27780982, 28052936, 28511177 ClinVar
Generalized pseudohypoaldosteronism type 1 171876 SCNN1B Causal Pathogenic evidence from ClinVar - ClinVar
SCNN1G Causal Pathogenic evidence from ClinVar - ClinVar
SCNN1A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Pseudohypoaldosteronism type 2B 88939 WNK4 Causal Pathogenic evidence from ClinVar - ClinVar
Pseudohypoaldosteronism, Type IIb C1840390 WNK4 Causal Pathogenic evidence from ClinVar 11498583, 23387299, 23453970, 23576762 ClinVar
COA3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -