Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
ANTENATAL BARTTER SYNDROME	MONDO:0100343	KCNJ1	Unknown	9002665 8841184 23782368	GWAS catalog
		MAGED2	Unknown	27120771	Disgenet
		SLC12A1	Unknown	10779555 19513753 20219833 26963954 28003191 28095294 28893421 8589530 8640224 9355073	GWAS catalog
BARTTER DISEASE	C0004775	BSND	Unknown	—	Disgenet
		CASR	Unknown	—	Disgenet
		CLCNKB	Unknown	—	Disgenet
		KCNJ1	Unknown	—	Disgenet
		REN	Unknown	—	Disgenet
		SLC12A1	Unknown	—	Disgenet
		SLC12A3	Unknown	—	Disgenet
BARTTER DISEASE TYPE 1	MONDO:0011127 MONDO:0100344	SLC12A1	Causal	10779555 11893344 19096086 21865213 8640224 9585600	ClinVar GenCC
BARTTER DISEASE TYPE 2	MONDO:0009424	KCNJ1	Causal	12086641 12122007 19096086 24400161 7635463 8841184 9580661	ClinGen ClinVar GWAS catalog
BARTTER DISEASE TYPE 3	MONDO:0011822	CLCNKB	Causal	11893344 17622951 19096086 21865213 219362 282762 28381550 29254190 30999883 8640224	ClinVar GWAS catalog
BARTTER DISEASE TYPE 4A	MONDO:0011242	BSND	Causal	12574213 11687798 19646679	ClinGen ClinVar Disgenet
BARTTER DISEASE TYPE 4B	MONDO:0000909	CLCNKA	Causal	—	ClinVar GenCC
BARTTER DISEASE TYPE 4B	MONDO:0000909	CLCNKB	Causal	18310267 15044642	ClinVar GWAS catalog
BARTTER DISEASE TYPE 5	MONDO:0010503	MAGED2	Causal	27120771 29146702 29893154	ClinGen ClinVar Disgenet
BARTTER SYNDROME	MESH:D001477	CLCNKB	Causal	10561751	CTD
		KCNJ1	Causal	10561751 12911542 22275899	CTD
		SLC12A1	Causal	10561751	CTD
		REN	Unknown	15976003 3519017 929154	CTD
BARTTER SYNDROME TYPE 2	620220	KCNJ1	Unknown	26963954	Orphanet
BARTTER SYNDROME TYPE 3	93605	CLCNKB	Unknown	17622951 24058621	Orphanet
BARTTER SYNDROME TYPE 4	89938 MONDO:0019524 C3838860	BSND	Causal	23110775	CTD Orphanet
		CLCNKA	Unknown	12920401 18310267 18776122	GWAS catalog Orphanet
		CLCNKB	Unknown	12920401 18310267 18776122	GWAS catalog Orphanet
BARTTER SYNDROME TYPE 5	570371	MAGED2	Unknown	27120771	Orphanet
BARTTER SYNDROME, ANTENATAL , TYPE 2	C1855849 MESH:C537651	KCNJ1	Unknown	—	CTD Disgenet
BARTTER SYNDROME, ANTENATAL TYPE 1	C1866495 MESH:C537652	SLC12A1	Unknown	—	CTD Disgenet
BARTTER SYNDROME, TYPE 1, ANTENATAL	601678	SLC12A1	Unknown	—	HPO
BARTTER SYNDROME, TYPE 2, ANTENATAL	241200	KCNJ1	Unknown	—	HPO
BARTTER SYNDROME, TYPE 3	C1846343 607364 MESH:C537653	CLCNKA	Unknown	—	Disgenet
		CLCNKB	Unknown	—	CTD Disgenet HPO
		SLC12A1	Unknown	—	Disgenet
BARTTER SYNDROME, TYPE 3, WITH HYPOCALCIURIA	C1846344	CLCNKB	Causal	—	Disgenet
BARTTER SYNDROME, TYPE 4A	C1865270 MESH:C566530	BSND	Unknown	—	CTD Disgenet
BARTTER SYNDROME, TYPE 4A, NEONATAL, WITH SENSORINEURAL DEAFNESS	602522	BSND	Unknown	—	HPO
BARTTER SYNDROME, TYPE 4B	MESH:C567762	CLCNKA	Unknown	—	CTD
BARTTER SYNDROME, TYPE 4B	MESH:C567762	CLCNKB	Unknown	—	CTD
BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS	613090 C4310805	CLCNKA	Unknown	—	Disgenet HPO
	613090 C4310805	CLCNKB	Unknown	—	Disgenet HPO
BARTTER SYNDROME, TYPE 5, ANTENATAL, TRANSIENT	300971 C4310820 OMIM:300971	MAGED2	Unknown	—	CTD Disgenet HPO
TRANSIENT ANTENATAL BARTTER SYNDROME	C5680366	MAGED2	Unknown	—	Disgenet

Bartter syndrome