DisGeNET - a database of gene-disease associations

Hemoglobin D disease, C0272080

Source: ALL

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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

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	3043
Gene Symbol:	HBB

HBB

0.300

GermlineCausalMutation

disease

ORPHANET

Compound heterozygous hemoglobin d-punjab/hemoglobin d-iran: a novel hemoglobinopathy.

25332633

2014

Entrez Id:	3043
Gene Symbol:	HBB

HBB

0.300

GermlineCausalMutation

disease

ORPHANET

The beta-globin genotype E121Q/W15X (cd121GAA-->CAA/cd15TGG-->TGA) underlines Hb d/beta-(0) thalassaemia marked by domination of haemoglobin D.

11757720

2001