DisGeNET - a database of gene-disease associations

TIMM50, translocase of inner mitochondrial membrane 50, 92609

N. diseases: 50; N. variants: 7

Disease: Electroretinogram abnormal ×

Variant: rs776019250 ×

Source: ALL

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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:

rs776019250

rs776019250

Entrez Id:	92609
Gene Symbol:	TIMM50

TIMM50

CUI:	C0476397
Disease:

Electroretinogram abnormal

C

0.700

CausalMutation

CLINVAR