DisGeNET - a database of gene-disease associations

Source: CURATED

Disease: Hyperpigmentation ×

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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:	55315
Gene Symbol:	SLC29A3

SLC29A3

solute carrier family 29 member 3

0.578

0.769

1.3E-07

CUI:	C0162834
Disease:	Hyperpigmentation

Hyperpigmentation

phenotype

0.400

None

1.000

0

2009

2010

Entrez Id:	196
Gene Symbol:	AHR

AHR

aryl hydrocarbon receptor

0.410

0.923

1.00

CUI:	C0162834
Disease:	Hyperpigmentation

Hyperpigmentation

phenotype

0.300

None

1.000

0

2017

2017

Entrez Id:	6157
Gene Symbol:	RPL27A

RPL27A

ribosomal protein L27a

0.890

0.115

0.91

CUI:	C0162834
Disease:	Hyperpigmentation

Hyperpigmentation

phenotype

0.300

None

1.000

0

2011

2011