DisGeNET - a database of gene-disease associations

TUBB4A, tubulin beta 4A class IVa, 10382

N. diseases: 107; N. variants: 29

Disease: Leukodystrophy, Hypomyelinating, 6 ×

Variant: rs756762431 ×

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:

rs756762431

rs756762431

Entrez Id:	10382
Gene Symbol:	TUBB4A

TUBB4A

CUI:	C2676244
Disease:

Leukodystrophy, Hypomyelinating, 6

G

0.700

CausalMutation

CLINVAR

TUBB4A de novo mutations cause isolated hypomyelination.

2014