DisGeNET - a database of gene-disease associations

SAR1B, secretion associated Ras related GTPase 1B, 51128

N. diseases: 44; N. variants: 6

Disease: Chylomicron retention disease ×

Variant: rs28942110 ×

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:

rs28942110

Entrez Id:	51128
Gene Symbol:	SAR1B

SAR1B

CUI:	C0795956
Disease:

Chylomicron retention disease

0.800

GeneticVariation

UNIPROT

Novel missense mutations of SAR1B gene in an infant with chylomicron retention disease.

19274794

2009

dbSNP:

rs28942110

Entrez Id:	51128
Gene Symbol:	SAR1B

SAR1B

CUI:	C0795956
Disease:

Chylomicron retention disease

0.800

GeneticVariation

UNIPROT

SIL1 and SARA2 mutations in Marinesco-Sjögren and chylomicron retention diseases.

17309654

2007

dbSNP:

rs28942110

Entrez Id:	51128
Gene Symbol:	SAR1B

SAR1B

CUI:	C0795956
Disease:

Chylomicron retention disease

0.800

GeneticVariation

UNIPROT

Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders.

12692552

2003

dbSNP:

rs28942110

Entrez Id:	51128
Gene Symbol:	SAR1B

SAR1B

CUI:	C0795956
Disease:

Chylomicron retention disease

0.800

CausalMutation

CLINVAR