DisGeNET - a database of gene-disease associations

FAM131A, family with sequence similarity 131 member A, 131408

N. diseases: 5; N. variants: 1

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs1553853557

Entrez Id:	1181;131408
Gene Symbol:	CLCN2;FAM131A

CLCN2;FAM131A

CUI:	C1854107
Disease:

Hyperaldosteronism, Familial, Type II

0.800

GeneticVariation

UNIPROT

A gain-of-function mutation in the CLCN2 chloride channel gene causes primary aldosteronism.

29403012

2018

dbSNP:

rs1553853557

Entrez Id:	1181;131408
Gene Symbol:	CLCN2;FAM131A

CLCN2;FAM131A

CUI:	C1854107
Disease:

Hyperaldosteronism, Familial, Type II

0.800

GeneticVariation

UNIPROT

CLCN2 chloride channel mutations in familial hyperaldosteronism type II.

29403011

2018

dbSNP:

rs1553853557

Entrez Id:	1181;131408
Gene Symbol:	CLCN2;FAM131A

CLCN2;FAM131A

CUI:	C1854107
Disease:

Hyperaldosteronism, Familial, Type II

0.800

CausalMutation

CLINVAR

dbSNP:

rs1553853557

Entrez Id:	1181;131408
Gene Symbol:	CLCN2;FAM131A

CLCN2;FAM131A

CUI:	C4023208
Disease:

Glucocortocoid-insensitive primary hyperaldosteronism

0.700

CausalMutation

CLINVAR

dbSNP:

rs1553853557

Entrez Id:	1181;131408
Gene Symbol:	CLCN2;FAM131A

CLCN2;FAM131A

CUI:	C1384514
Disease:

Conn Syndrome

0.700

CausalMutation

CLINVAR

dbSNP:

rs1553853557

Entrez Id:	1181;131408
Gene Symbol:	CLCN2;FAM131A

CLCN2;FAM131A

CUI:	C0020538
Disease:

Hypertensive disease

0.700

CausalMutation

CLINVAR