DisGeNET - a database of gene-disease associations

TMEM106B, transmembrane protein 106B, 54664

N. diseases: 126; N. variants: 13

Disease: LEUKODYSTROPHY, HYPOMYELINATING, 16 ×

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:

rs1554310600

Entrez Id:	54664
Gene Symbol:	TMEM106B

TMEM106B

CUI:	C4693779
Disease:

LEUKODYSTROPHY, HYPOMYELINATING, 16

0.800

GeneticVariation

UNIPROT

The recurrent mutation in TMEM106B also causes hypomyelinating leukodystrophy in China and is a CpG hotspot.

29444210

2018

dbSNP:

rs1554310600

Entrez Id:	54664
Gene Symbol:	TMEM106B

TMEM106B

CUI:	C4693779
Disease:

LEUKODYSTROPHY, HYPOMYELINATING, 16

0.800

GeneticVariation

CLINVAR

The recurrent mutation in TMEM106B also causes hypomyelinating leukodystrophy in China and is a CpG hotspot.

29444210

2018

dbSNP:

rs1554310600

Entrez Id:	54664
Gene Symbol:	TMEM106B

TMEM106B

CUI:	C4693779
Disease:

LEUKODYSTROPHY, HYPOMYELINATING, 16

0.800

GeneticVariation

UNIPROT

A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy.

29186371

2017

dbSNP:

rs1554310600

Entrez Id:	54664
Gene Symbol:	TMEM106B

TMEM106B

CUI:	C4693779
Disease:

LEUKODYSTROPHY, HYPOMYELINATING, 16

0.800

GeneticVariation

CLINVAR

A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy.

29186371

2017

dbSNP:

rs1554310600

Entrez Id:	54664
Gene Symbol:	TMEM106B

TMEM106B

CUI:	C4693779
Disease:

LEUKODYSTROPHY, HYPOMYELINATING, 16

0.800

CausalMutation

CLINVAR