DisGeNET - a database of gene-disease associations

EHBP1L1, EH domain binding protein 1 like 1, 254102

N. diseases: 12; N. variants: 6

Disease: Corpuscular Hemoglobin Concentration Mean ×

Variant: rs10160596 ×

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:

rs10160596

Entrez Id:	254102
Gene Symbol:	EHBP1L1

EHBP1L1

CUI:	C4528257
Disease:

Corpuscular Hemoglobin Concentration Mean

0.700

GeneticVariation

GWASCAT

The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

27863252

2016