DisGeNET - a database of gene-disease associations

Source: ORPHANET

Disease: Anemia, Sickle Cell ×

Gene: HBB ×

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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:	3043
Gene Symbol:	HBB

HBB

CUI:	C0002895
Disease:	Anemia, Sickle Cell

Anemia, Sickle Cell

0.800

GermlineCausalMutation

ORPHANET

Sickle cell disease (SCD), caused by a mutation in the β-globin gene HBB, is widely distributed in malaria endemic regions.

2014