DisGeNET - a database of gene-disease associations

UPF1, UPF1 RNA helicase and ATPase, 5976

N. diseases: 38; N. variants: 3

Disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 6 ×

Variant: rs374016704 ×

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:

rs374016704

Entrez Id:	2657;5976;10715
Gene Symbol:	GDF1;UPF1;CERS1

GDF1;UPF1;CERS1

CUI:	C3151221
Disease:

CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 6

0.800

GeneticVariation

UNIPROT

Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.

28991257

2017

dbSNP:

rs374016704

Entrez Id:	2657;5976;10715
Gene Symbol:	GDF1;UPF1;CERS1

GDF1;UPF1;CERS1

CUI:	C3151221
Disease:

CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 6

0.800

GeneticVariation

UNIPROT

Loss-of-function mutations in growth differentiation factor-1 (GDF1) are associated with congenital heart defects in humans.

17924340

2007

dbSNP:

rs374016704

Entrez Id:	2657;5976;10715
Gene Symbol:	GDF1;UPF1;CERS1

GDF1;UPF1;CERS1

CUI:	C3151221
Disease:

CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 6

0.800

CausalMutation

CLINVAR