DisGeNET - a database of gene-disease associations

Colitis, C0009319

Variant: rs587777641 ×

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs587777641

GPIHBP1

0.700

CausalMutation

CLINVAR

Whole-exome sequencing reveals GPIHBP1 mutations in infantile colitis with severe hypertriglyceridemia.

24614124

2014

dbSNP:

rs587777641

GPIHBP1

0.700

CausalMutation

CLINVAR

GPIHBP1 C89F neomutation and hydrophobic C-terminal domain G175R mutation in two pedigrees with severe hyperchylomicronemia.

21816778

2011

dbSNP:

rs587777641

GPIHBP1

0.700

CausalMutation

CLINVAR

Chylomicronemia with low postheparin lipoprotein lipase levels in the setting of GPIHBP1 defects.

20124439

2010

dbSNP:

rs587777641

GPIHBP1

0.700

CausalMutation

CLINVAR

Chylomicronemia with a mutant GPIHBP1 (Q115P) that cannot bind lipoprotein lipase.

19304573

2009