DisGeNET - a database of gene-disease associations

Source: GWASCAT

Disease: Skin Pigmentation ×

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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:	4157
Gene Symbol:	MC1R

MC1R

CUI:	C0037290
Disease:	Skin Pigmentation

Skin Pigmentation

0.100

GeneticVariation

GWASCAT

Multitrait genome association analysis identifies new susceptibility genes for human anthropometric variation in the GCAT cohort.

30166351

2018

Entrez Id:	2175
Gene Symbol:	FANCA

FANCA

CUI:	C0037290
Disease:	Skin Pigmentation

Skin Pigmentation

0.100

GeneticVariation

GWASCAT

Multitrait genome association analysis identifies new susceptibility genes for human anthropometric variation in the GCAT cohort.

30166351

2018

Entrez Id:	124045
Gene Symbol:	SPATA33

SPATA33

CUI:	C0037290
Disease:	Skin Pigmentation

Skin Pigmentation

0.100

GeneticVariation

GWASCAT

Multitrait genome association analysis identifies new susceptibility genes for human anthropometric variation in the GCAT cohort.

30166351

2018

Entrez Id:	7299
Gene Symbol:	TYR

TYR

CUI:	C0037290
Disease:	Skin Pigmentation

Skin Pigmentation

0.100

GeneticVariation

GWASCAT

Multitrait genome association analysis identifies new susceptibility genes for human anthropometric variation in the GCAT cohort.

30166351

2018

Entrez Id:	8924
Gene Symbol:	HERC2

HERC2

CUI:	C0037290
Disease:	Skin Pigmentation

Skin Pigmentation

0.100

GeneticVariation

GWASCAT

Multitrait genome association analysis identifies new susceptibility genes for human anthropometric variation in the GCAT cohort.

30166351

2018

Entrez Id:	51151
Gene Symbol:	SLC45A2

SLC45A2

CUI:	C0037290
Disease:	Skin Pigmentation

Skin Pigmentation

0.100

GeneticVariation

GWASCAT

Multitrait genome association analysis identifies new susceptibility genes for human anthropometric variation in the GCAT cohort.

30166351

2018

Entrez Id:	4948
Gene Symbol:	OCA2

OCA2

CUI:	C0037290
Disease:	Skin Pigmentation

Skin Pigmentation

0.100

GeneticVariation

GWASCAT

Multitrait genome association analysis identifies new susceptibility genes for human anthropometric variation in the GCAT cohort.

30166351

2018

Entrez Id:	3662
Gene Symbol:	IRF4

IRF4

CUI:	C0037290
Disease:	Skin Pigmentation

Skin Pigmentation

0.100

GeneticVariation

GWASCAT

Multitrait genome association analysis identifies new susceptibility genes for human anthropometric variation in the GCAT cohort.

30166351

2018

Entrez Id:	100506736
Gene Symbol:	SLFN12L

SLFN12L

CUI:	C0037290
Disease:	Skin Pigmentation

Skin Pigmentation

0.100

GeneticVariation

GWASCAT

Identification of a novel locus associated with skin colour in African-admixed populations.

28300201

2017

Entrez Id:	283652
Gene Symbol:	SLC24A5

SLC24A5

CUI:	C0037290
Disease:	Skin Pigmentation

Skin Pigmentation

0.100

GeneticVariation

GWASCAT

Identification of a novel locus associated with skin colour in African-admixed populations.

28300201

2017

Entrez Id:	51151
Gene Symbol:	SLC45A2

SLC45A2

CUI:	C0037290
Disease:	Skin Pigmentation

Skin Pigmentation

0.100

GeneticVariation

GWASCAT

Identification of a novel locus associated with skin colour in African-admixed populations.

28300201

2017

Entrez Id:	79895
Gene Symbol:	ATP8B4

ATP8B4

CUI:	C0037290
Disease:	Skin Pigmentation

Skin Pigmentation

0.100

GeneticVariation

GWASCAT

Identification of a novel locus associated with skin colour in African-admixed populations.

28300201

2017

Entrez Id:	8858
Gene Symbol:	PROZ

PROZ

CUI:	C0037290
Disease:	Skin Pigmentation

Skin Pigmentation

0.100

GeneticVariation

GWASCAT

Identification of a novel locus associated with skin colour in African-admixed populations.

28300201

2017

Entrez Id:	50804
Gene Symbol:	MYEF2

MYEF2

CUI:	C0037290
Disease:	Skin Pigmentation

Skin Pigmentation

0.100

GeneticVariation

GWASCAT

Identification of a novel locus associated with skin colour in African-admixed populations.

28300201

2017

Entrez Id:	56952
Gene Symbol:	PRTFDC1

PRTFDC1

CUI:	C0037290
Disease:	Skin Pigmentation

Skin Pigmentation

0.100

GeneticVariation

GWASCAT

Identification of a novel locus associated with skin colour in African-admixed populations.

28300201

2017

Entrez Id:	22913
Gene Symbol:	RALY

RALY

CUI:	C0037290
Disease:	Skin Pigmentation

Skin Pigmentation

0.100

GeneticVariation

GWASCAT

Genetics of skin color variation in Europeans: genome-wide association studies with functional follow-up.

25963972

2015

Entrez Id:	8924
Gene Symbol:	HERC2

HERC2

CUI:	C0037290
Disease:	Skin Pigmentation

Skin Pigmentation

0.100

GeneticVariation

GWASCAT

Genetics of skin color variation in Europeans: genome-wide association studies with functional follow-up.

25963972

2015

Entrez Id:	54849
Gene Symbol:	DEF8

DEF8

CUI:	C0037290
Disease:	Skin Pigmentation

Skin Pigmentation

0.100

GeneticVariation

GWASCAT

Genetics of skin color variation in Europeans: genome-wide association studies with functional follow-up.

25963972

2015

Entrez Id:	3662
Gene Symbol:	IRF4

IRF4

CUI:	C0037290
Disease:	Skin Pigmentation

Skin Pigmentation

0.100

GeneticVariation

GWASCAT

Genetics of skin color variation in Europeans: genome-wide association studies with functional follow-up.

25963972

2015

Entrez Id:	51151
Gene Symbol:	SLC45A2

SLC45A2

CUI:	C0037290
Disease:	Skin Pigmentation

Skin Pigmentation

0.100

GeneticVariation

GWASCAT

Genetics of skin color variation in Europeans: genome-wide association studies with functional follow-up.

25963972

2015

Entrez Id:	4157
Gene Symbol:	MC1R

MC1R

CUI:	C0037290
Disease:	Skin Pigmentation

Skin Pigmentation

0.100

GeneticVariation

GWASCAT

Genetics of skin color variation in Europeans: genome-wide association studies with functional follow-up.

25963972

2015

Entrez Id:	4157
Gene Symbol:	MC1R

MC1R

CUI:	C0037290
Disease:	Skin Pigmentation

Skin Pigmentation

0.100

GeneticVariation

GWASCAT

Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans.

23548203

2013

Entrez Id:	54331
Gene Symbol:	GNG2

GNG2

CUI:	C0037290
Disease:	Skin Pigmentation

Skin Pigmentation

0.100

GeneticVariation

GWASCAT

Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans.

23548203

2013

Entrez Id:	3662
Gene Symbol:	IRF4

IRF4

CUI:	C0037290
Disease:	Skin Pigmentation

Skin Pigmentation

0.100

GeneticVariation

GWASCAT

Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans.

23548203

2013

Entrez Id:	51151
Gene Symbol:	SLC45A2

SLC45A2

CUI:	C0037290
Disease:	Skin Pigmentation

Skin Pigmentation

0.100

GeneticVariation

GWASCAT

A genomewide association study of skin pigmentation in a South Asian population.

17999355

2007