DisGeNET - a database of gene-disease associations

HYPOMYELINATION AND CONGENITAL CATARACT, C1864663

Variant: rs72549407 ×

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs72549407

FAM126A

0.800

GeneticVariation

UNIPROT

The leukodystrophy protein FAM126A (hyccin) regulates PtdIns(4)P synthesis at the plasma membrane.

26571211

2016

dbSNP:

rs72549407

FAM126A

0.800

GeneticVariation

UNIPROT

Novel FAM126A mutations in hypomyelination and congenital cataract disease.

23998934

2013

dbSNP:

rs72549407

FAM126A

0.800

GeneticVariation

UNIPROT

Hypomyelination and congenital cataract: broadening the clinical phenotype.

21911699

2011

dbSNP:

rs72549407

FAM126A

0.800

GeneticVariation

UNIPROT

Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract.

16951682

2006

dbSNP:

rs72549407

FAM126A

0.800

CausalMutation

CLINVAR