DisGeNET - a database of gene-disease associations

SMDT1, single-pass membrane protein with aspartate rich tail 1, 91689

N. diseases: 7; N. variants: 6

Disease: Mitochondrial Diseases ×

Variant: rs750830935 ×

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:

rs750830935

rs750830935

Entrez Id:	4700;91689
Gene Symbol:	NDUFA6;SMDT1

NDUFA6;SMDT1

CUI:	C0751651
Disease:

Mitochondrial Diseases

G

0.700

CausalMutation

CLINVAR