DisGeNET - a database of gene-disease associations

SUGCT, succinyl-CoA:glutarate-CoA transferase, 79783

N. diseases: 41; N. variants: 23

Disease: Trichothiodystrophy, Nonphotosensitive 1 ×

Variant: rs869312900 ×

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:

rs869312900

Entrez Id:	79783;136647
Gene Symbol:	SUGCT;MPLKIP

SUGCT;MPLKIP

CUI:	C4083251
Disease:

Trichothiodystrophy, Nonphotosensitive 1

0.700

CausalMutation

CLINVAR

Mitral regurgitation as a phenotypic manifestation of nonphotosensitive trichothiodystrophy due to a splice variant in MPLKIP.

26880286

2016