DisGeNET - a database of gene-disease associations

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Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	10767
Gene Symbol:	HBS1L

HBS1L

CUI:	C0474535
Disease:	Mean corpuscular hemoglobin concentration determination

Mean corpuscular hemoglobin concentration determination

0.100

GeneticVariation

GWASDB

Genetic Loci implicated in erythroid differentiation and cell cycle regulation are associated with red blood cell traits.

2012