DisGeNET - a database of gene-disease associations

Source: BEFREE

Disease: Muscle Weakness ×

Gene: TMEM126B ×

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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

Gene

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	55863
Gene Symbol:	TMEM126B

TMEM126B

CUI:	C0151786
Disease:	Muscle Weakness

Muscle Weakness

0.110

Biomarker

BEFREE

Mutations in Complex I Assembly Factor TMEM126B Result in Muscle Weakness and Isolated Complex I Deficiency.

2016