DisGeNET - a database of gene-disease associations

FAM126A, family with sequence similarity 126 member A, 84668

N. diseases: 50; N. variants: 5

Disease: Leukodystrophy ×

Source: ALL

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Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Disease

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

CUI:	C0023520
Disease:	Leukodystrophy

Leukodystrophy

0.110

GeneticVariation

disease

BEFREE

Hyccin, the molecule mutated in the leukodystrophy hypomyelination and congenital cataract (HCC), is a neuronal protein.

22461884

2012

CUI:	C0023520
Disease:	Leukodystrophy

Leukodystrophy

0.110

Biomarker

disease

HPO