DisGeNET - a database of gene-disease associations

NDUFS4, NADH:ubiquinone oxidoreductase subunit S4, 4724

N. diseases: 137; N. variants: 12

Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY ×

Variant: rs121908985 ×

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:

rs121908985

rs121908985

Entrez Id:	4724
Gene Symbol:	NDUFS4

NDUFS4

CUI:	C1838979
Disease:

MITOCHONDRIAL COMPLEX I DEFICIENCY

T

0.700

CausalMutation

CLINVAR