DisGeNET - a database of gene-disease associations

SH3GL1, SH3 domain containing GRB2 like 1, endophilin A2, 6455

N. diseases: 33; N. variants: 8

Disease: Corpuscular Hemoglobin Concentration Mean ×

Variant: rs2247205 ×

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:

rs2247205

rs2247205

Entrez Id:	6455
Gene Symbol:	SH3GL1

SH3GL1

CUI:	C4528257
Disease:

Corpuscular Hemoglobin Concentration Mean

0.700

GeneticVariation

GWASDB

Seventy-five genetic loci influencing the human red blood cell.

2012