DisGeNET - a database of gene-disease associations

HERC2, HECT and RLD domain containing E3 ubiquitin protein ligase 2, 8924

N. diseases: 143; N. variants: 32

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs12913832

Entrez Id:	8924
Gene Symbol:	HERC2

HERC2

CUI:	C0018498
Disease:

Hair Color

0.800

GeneticVariation

GWASCAT

Genome-wide study of hair colour in UK Biobank explains most of the SNP heritability.

30531825

2018

dbSNP:

rs12913832

Entrez Id:	8924
Gene Symbol:	HERC2

HERC2

CUI:	C0015396
Disease:

Eye Color

0.800

GeneticVariation

GWASDB

Digital quantification of human eye color highlights genetic association of three new loci.

20463881

2010

dbSNP:

rs12913832

Entrez Id:	8924
Gene Symbol:	HERC2

HERC2

CUI:	C0015396
Disease:

Eye Color

0.800

GeneticVariation

GWASCAT

Digital quantification of human eye color highlights genetic association of three new loci.

20463881

2010

dbSNP:

rs12913832

Entrez Id:	8924
Gene Symbol:	HERC2

HERC2

CUI:	C0015396
Disease:

Eye Color

0.800

GeneticVariation

GWASDB

Genetics of eye colours in different rural populations on the Silk Road.

23486544

2013

dbSNP:

rs1667394

Entrez Id:	8924
Gene Symbol:	HERC2

HERC2

CUI:	C0015396
Disease:

Eye Color

0.800

GeneticVariation

GWASCAT

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

30166351

2018

dbSNP:

rs1667394

Entrez Id:	8924
Gene Symbol:	HERC2

HERC2

CUI:	C0015396
Disease:

Eye Color

0.800

GeneticVariation

GWASDB

Genetics of eye colours in different rural populations on the Silk Road.

23486544

2013

dbSNP:

rs397518474

Entrez Id:	8924
Gene Symbol:	HERC2

HERC2

CUI:	C3809753
Disease:

MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38

0.800

GeneticVariation

UNIPROT

A homozygous missense mutation in HERC2 associated with global developmental delay and autism spectrum disorder.

23065719

2012

dbSNP:

rs916977

Entrez Id:	8924
Gene Symbol:	HERC2

HERC2

CUI:	C0015396
Disease:

Eye Color

0.800

GeneticVariation

GWASDB

Genetics of eye colours in different rural populations on the Silk Road.

23486544

2013

dbSNP:

rs916977

Entrez Id:	8924
Gene Symbol:	HERC2

HERC2

CUI:	C0015396
Disease:

Eye Color

0.800

GeneticVariation

GWASCAT

Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene.

18252221

2008

dbSNP:

rs1129038

Entrez Id:	8924
Gene Symbol:	HERC2

HERC2

CUI:	C0015396
Disease:

Eye Color

0.700

GeneticVariation

GWASDB

Genetics of eye colours in different rural populations on the Silk Road.

23486544

2013

dbSNP:

rs1129038

Entrez Id:	8924
Gene Symbol:	HERC2

HERC2

CUI:	C0037290
Disease:

Skin Pigmentation

0.700

GeneticVariation

GWASCAT

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

30166351

2018

dbSNP:

rs1129038

Entrez Id:	8924
Gene Symbol:	HERC2

HERC2

CUI:	C0406208
Disease:

Suntan

0.700

GeneticVariation

GWASCAT

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

30166351

2018

dbSNP:

rs1129038

Entrez Id:	8924
Gene Symbol:	HERC2

HERC2

CUI:	C0018498
Disease:

Hair Color

0.700

GeneticVariation

GWASCAT

Genome-wide study of hair colour in UK Biobank explains most of the SNP heritability.

30531825

2018

dbSNP:

rs1129038

Entrez Id:	8924
Gene Symbol:	HERC2

HERC2

CUI:	C0025202
Disease:

melanoma

0.700

GeneticVariation

GWASDB

Genome-wide association study identifies novel loci predisposing to cutaneous melanoma.

21926416

2011

dbSNP:

rs11636232

Entrez Id:	8924
Gene Symbol:	HERC2

HERC2

CUI:	C0015396
Disease:

Eye Color

0.700

GeneticVariation

GWASDB

Genetics of eye colours in different rural populations on the Silk Road.

23486544

2013

dbSNP:

rs11636232

Entrez Id:	8924
Gene Symbol:	HERC2

HERC2

CUI:	C0018498
Disease:

Hair Color

0.700

GeneticVariation

GWASDB

A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation.

18483556

2008

dbSNP:

rs12592730

Entrez Id:	8924
Gene Symbol:	HERC2

HERC2

CUI:	C0474350
Disease:

Color of iris

0.700

GeneticVariation

GWASDB

Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene.

18252221

2008

dbSNP:

rs12593929

Entrez Id:	8924
Gene Symbol:	HERC2

HERC2

CUI:	C0015396
Disease:

Eye Color

0.700

GeneticVariation

GWASDB

Genetics of eye colours in different rural populations on the Silk Road.

23486544

2013

dbSNP:

rs12913832

Entrez Id:	8924
Gene Symbol:	HERC2

HERC2

CUI:	C0037290
Disease:

Skin Pigmentation

0.700

GeneticVariation

GWASCAT

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

30166351

2018

dbSNP:

rs12913832

Entrez Id:	8924
Gene Symbol:	HERC2

HERC2

CUI:	C0025202
Disease:

melanoma

0.700

GeneticVariation

GWASDB

Genome-wide association study identifies novel loci predisposing to cutaneous melanoma.

21926416

2011

dbSNP:

rs12913832

Entrez Id:	8924
Gene Symbol:	HERC2

HERC2

CUI:	C0406208
Disease:

Suntan

0.700

GeneticVariation

GWASCAT

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

30166351

2018

dbSNP:

rs12916300

Entrez Id:	8924
Gene Symbol:	HERC2

HERC2

CUI:	C0007102
Disease:

Malignant tumor of colon

0.700

GeneticVariation

GWASCAT

Bayesian and frequentist analysis of an Austrian genome-wide association study of colorectal cancer and advanced adenomas.

29228715

2017

dbSNP:

rs12916300

Entrez Id:	8924
Gene Symbol:	HERC2

HERC2

CUI:	C0009404
Disease:

Colorectal Neoplasms

0.700

GeneticVariation

GWASCAT

Bayesian and frequentist analysis of an Austrian genome-wide association study of colorectal cancer and advanced adenomas.

29228715

2017

dbSNP:

rs12916300

Entrez Id:	8924
Gene Symbol:	HERC2

HERC2

CUI:	C0007137
Disease:

Squamous cell carcinoma

0.700

GeneticVariation

GWASCAT

Identification of Susceptibility Loci for Cutaneous Squamous Cell Carcinoma.

26829030

2016

dbSNP:

rs12916300

Entrez Id:	8924
Gene Symbol:	HERC2

HERC2

CUI:	C3554460
Disease:

COLORECTAL CANCER, SUSCEPTIBILITY TO, 12

0.700

GeneticVariation

GWASCAT

Bayesian and frequentist analysis of an Austrian genome-wide association study of colorectal cancer and advanced adenomas.

29228715

2017