DisGeNET - a database of gene-disease associations

Source: ORPHANET

Disease: Hemoglobin E disease ×

Gene: HBB ×

Results per page

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:	C0238159
Disease:	Hemoglobin E disease

Hemoglobin E disease

0.400

GermlineCausalMutation

ORPHANET

Hemoglobinopathies: clinical manifestations, diagnosis, and treatment.

2011