Disease Term Disease ID Gene Symbol References
Pseudohypoaldosteronism C0033805 GNAS
NR3C2
SCNN1A 11752024
SCNN1B
SCNN1G 8640238
CUL3
STX16
KLHL3 22406640
WNK1 22949526
WNK4 22949526
GNAS-AS1
Pseudohypoaldosteronism, Type I C0268436 GNAS
NR3C2
SCNN1A 11752024
SCNN1B
SCNN1G 8640238
STX16
KLHL3 22406640
WNK1 22949526
WNK4 22949526
GNAS-AS1
Pseudohypoaldosteronism, Type I, Autosomal Dominant C1449842 GNAS
NR3C2 12788847, 16757525, 16972228, 16954160, 19571553, 12483305, 11134129
SCNN1A 11752024
SCNN1B
SCNN1G 8640238
CUL3
STX16
KLHL3 22406640
WNK1 22949526
WNK4 22949526
GNAS-AS1
Pseudohypoaldosteronism, Type I, Autosomal Recessive C1449843 GNAS
NR3C2
SCNN1A 10586178, 19571553, 23762408, 23416952, 15853823, 11752024, 18634878
SCNN1B 8589714, 15483078, 31018202, 19571553, 23837941, 23426840
SCNN1G 17634077, 26537344, 8640238, 11231969, 19571553
STX16
KLHL3 22406640
WNK1 22949526
WNK4 22949526
GNAS-AS1
Pseudohypoaldosteronism, Type II C1449844 GNAS
NR3C2
SCNN1A 11752024
SCNN1B
SCNN1G 8640238
CUL3
STX16
KLHL3 22406640
WNK1 22949526
WNK4 22949526
GNAS-AS1
Pseudohypoaldosteronism, Type IIa C1840389 CUL3
PSEUDOHYPOALDOSTERONISM, TYPE IIE C3469606 CUL3 22266938
PSEUDOHYPOALDOSTERONISM, TYPE IID C3469605 KLHL3 23453970, 22266938, 26435498, 22406640, 27780982, 27026694, 28511177, 28052936, 23387299, 23576762, 23665031
Pseudohypoaldosteronism, Type IIb C1840390 COA3
WNK4 23387299, 23453970, 23576762, 11498583
Pseudohypoaldosteronism, Type IIc C1840391 WNK1 15060842, 11498583, 15911806
Generalized pseudohypoaldosteronism type 1 171876 SCNN1A
SCNN1B
SCNN1G
Pseudohypoaldosteronism type 2D 300525 KLHL3
Pseudohypoaldosteronism type 2E 300530 CUL3
Pseudohypoaldosteronism type 2C 88940 WNK1
Pseudohypoaldosteronism type 2B 88939 WNK4