Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
PSEUDOHYPOALDOSTERONISM	C0033805 MESH:D011546	NR3C2	Causal	—	CTD Disgenet
		SCNN1A	Causal	11752024	CTD Disgenet
		CUL3	Unknown	—	Disgenet
		GNAS	Unknown	—	CTD Disgenet
		KLHL3	Unknown	22406640	CTD Disgenet
		SCNN1B	Unknown	—	Disgenet
		SCNN1G	Unknown	8640238	CTD Disgenet
		STX16	Unknown	—	CTD Disgenet
		WNK1	Unknown	22949526	CTD Disgenet
		WNK4	Unknown	22949526	CTD Disgenet
PSEUDOHYPOALDOSTERONISM TYPE 2B	88939 MONDO:0013777	WNK4	Causal	11498583 15292344 19016006 21670282 21764813 22073419 23336180 26920127	CTD ClinVar Orphanet
PSEUDOHYPOALDOSTERONISM TYPE 2C	88940 MONDO:0013778	WNK1	Causal	10869238 11498583 20921400 22073419 23940364	ClinVar GenCC Orphanet
PSEUDOHYPOALDOSTERONISM TYPE 2D	300525 MONDO:0013781	KLHL3	Causal	22073419	ClinVar GenCC Orphanet
PSEUDOHYPOALDOSTERONISM TYPE 2E	300530 MONDO:0013782	CUL3	Causal	22073419 22266938 24266877 26286618 29511623 29869755 34480842	ClinGen ClinVar GWAS catalog Orphanet
PSEUDOHYPOALDOSTERONISM, TYPE 2		CUL3	Unknown	—	ClinVar
		KLHL3	Unknown	—	ClinVar
		WNK1	Unknown	—	ClinVar
		WNK4	Unknown	—	ClinVar
PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	C1449842 177735	CUL3	Unknown	—	Disgenet
		KLHL3	Unknown	—	Disgenet
		NR3C2	Unknown	—	Disgenet HPO
		STX16	Unknown	—	Disgenet
PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL RECESSIVE	C1449843	NR3C2	Unknown	—	Disgenet
		SCNN1A	Unknown	—	Disgenet
		SCNN1B	Unknown	—	Disgenet
		SCNN1G	Unknown	—	Disgenet
PSEUDOHYPOALDOSTERONISM, TYPE IB1, AUTOSOMAL RECESSIVE	264350 C5774176 MONDO:0009917	SCNN1A	Causal	—	ClinGen ClinVar Disgenet GenCC HPO
		SCNN1B	Causal	10403853 12107247 12107427 18424465 23426840 251370 26807262	Disgenet GWAS catalog
		SCNN1G	Causal	11231969 18424465 27485500 29371419 29582446 8640238 8824886	Disgenet GWAS catalog
		LTBR	Unknown	—	Disgenet
PSEUDOHYPOALDOSTERONISM, TYPE IB2, AUTOSOMAL RECESSIVE	620125 C5774255 MONDO:0859317	SCNN1B	Causal	—	ClinVar Disgenet GenCC HPO
PSEUDOHYPOALDOSTERONISM, TYPE IB3, AUTOSOMAL RECESSIVE	620126 C5774256 MONDO:0859318	SCNN1G	Causal	—	ClinVar Disgenet HPO
PSEUDOHYPOALDOSTERONISM, TYPE IIA	C1840389	CUL3	Unknown	—	Disgenet
		KLHL3	Unknown	—	Disgenet
		WNK1	Unknown	—	Disgenet
PSEUDOHYPOALDOSTERONISM, TYPE IIB	614491 C1840390 MESH:C564161	WNK4	Unknown	—	CTD Disgenet HPO
PSEUDOHYPOALDOSTERONISM, TYPE IIC	614492 C1840391 MESH:C564162	WNK1	Unknown	—	CTD Disgenet HPO
PSEUDOHYPOALDOSTERONISM, TYPE IID	614495 C3469605 OMIM:614495	KLHL3	Unknown	—	CTD Disgenet HPO
PSEUDOHYPOALDOSTERONISM, TYPE IIE	614496 C3469606 OMIM:614496	CUL3	Unknown	—	CTD Disgenet HPO
PSEUDOHYPOPARATHYROIDISM	C0033806 MESH:D011547	GNAS	Causal	17299070 2109828 2122458 21823526 21836370 9506752	CTD Disgenet
PSEUDOHYPOPARATHYROIDISM	C0033806 MESH:D011547	PTH1R	Causal	—	Disgenet
PSEUDOHYPOPARATHYROIDISM TYPE 1A	79443 MONDO:0007078	GNAS	Unknown	1505964 2122458 8072545 8702665 11095461 9328353 10487696 11073544 17299070 17405843 18182455 18553568 18796523 18806481 19381884 19449667 19530187 19658058 20015054	GWAS catalog Orphanet
PSEUDOHYPOPARATHYROIDISM TYPE 1B	94089 MONDO:0011301	GNAS	Causal	11029463 18182455 15592469 20444925	ClinVar GenCC Orphanet
PSEUDOHYPOPARATHYROIDISM TYPE 1B	94089 MONDO:0011301	STX16	Unknown	15537666 17651445 21062889 23087324 24438374 25843330	ClinVar GWAS catalog Orphanet
PSEUDOHYPOPARATHYROIDISM TYPE 1C	79444 C2932716 MONDO:0012911	GNAS	Causal	—	ClinVar Disgenet GenCC Orphanet
PSEUDOHYPOPARATHYROIDISM TYPE I A		GNAS	Causal	—	ClinVar
PSEUDOHYPOPARATHYROIDISM, TYPE IA	103580 C3494506	GNAS	Unknown	—	Disgenet HPO
PSEUDOHYPOPARATHYROIDISM, TYPE IB	C1864100 603233	GHSR	Unknown	—	Disgenet
		GNAS	Unknown	—	Disgenet HPO
		STX16	Unknown	—	Disgenet HPO

Pseudohypoparathyroidism