DisGeNET - a database of gene-disease associations

Source: CURATED

Disease: HEMOCHROMATOSIS, TYPE 1 ×

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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

Gene Full Name

DSI _g

DPI _g

pLI

Disease

Type

Score _gda

EL_gda

EI _gda

N.PMIDs

N.SNPs _gda

First Ref.

LastRef.

Entrez Id:	3077
Gene Symbol:	HFE

HFE

homeostatic iron regulator

0.436

0.846

2.6E-08

CUI:	C3469186
Disease:	HEMOCHROMATOSIS, TYPE 1

HEMOCHROMATOSIS, TYPE 1

disease

0.900

None

0.979

1987

2019

Entrez Id:	148738
Gene Symbol:	HJV

HJV

hemojuvelin BMP co-receptor

0.621

0.654

4.2E-03

CUI:	C3469186
Disease:	HEMOCHROMATOSIS, TYPE 1

HEMOCHROMATOSIS, TYPE 1

disease

0.400

None

0.950

0

2005

2019

Entrez Id:	650
Gene Symbol:	BMP2

BMP2

bone morphogenetic protein 2

0.432

0.846

0.99

CUI:	C3469186
Disease:	HEMOCHROMATOSIS, TYPE 1

HEMOCHROMATOSIS, TYPE 1

disease

0.310

strong

1.000

0

2017

2019