DisGeNET - a database of gene-disease associations

SREBF1, sterol regulatory element binding transcription factor 1, 6720

N. diseases: 159; N. variants: 12

Disease: Familial partial lipodystrophy ×

Variant: rs770850320 ×

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:

rs770850320

Entrez Id:	6720
Gene Symbol:	SREBF1

SREBF1

CUI:	C0271694
Disease:

Familial partial lipodystrophy

0.010

GeneticVariation

BEFREE

The p.R482W substitution in A-type lamins deregulates SREBP1 activity in Dunnigan-type familial partial lipodystrophy.

25524705

2015