DisGeNET - a database of gene-disease associations

Source: HPO

Disease: Freckles ×

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:	4255
Gene Symbol:	MGMT

MGMT

CUI:	C0016689
Disease:	Freckles

Freckles

0.100

Biomarker

HPO

Entrez Id:	4935
Gene Symbol:	GPR143

GPR143

CUI:	C0016689
Disease:	Freckles

Freckles

0.100

Biomarker

HPO

Entrez Id:	2072
Gene Symbol:	ERCC4

ERCC4

CUI:	C0016689
Disease:	Freckles

Freckles

0.100

Biomarker

HPO

Entrez Id:	4157
Gene Symbol:	MC1R

MC1R

CUI:	C0016689
Disease:	Freckles

Freckles

0.100

Biomarker

HPO

Entrez Id:	2073
Gene Symbol:	ERCC5

ERCC5

CUI:	C0016689
Disease:	Freckles

Freckles

0.100

Biomarker

HPO

Entrez Id:	5894
Gene Symbol:	RAF1

RAF1

CUI:	C0016689
Disease:	Freckles

Freckles

0.100

Biomarker

HPO

Entrez Id:	2074
Gene Symbol:	ERCC6

ERCC6

CUI:	C0016689
Disease:	Freckles

Freckles

0.100

Biomarker

HPO

Entrez Id:	1029
Gene Symbol:	CDKN2A

CDKN2A

CUI:	C0016689
Disease:	Freckles

Freckles

0.100

Biomarker

HPO

Entrez Id:	7015
Gene Symbol:	TERT

TERT

CUI:	C0016689
Disease:	Freckles

Freckles

0.100

Biomarker

HPO

Entrez Id:	57654
Gene Symbol:	UVSSA

UVSSA

CUI:	C0016689
Disease:	Freckles

Freckles

0.100

Biomarker

HPO

Entrez Id:	4763
Gene Symbol:	NF1

NF1

CUI:	C0016689
Disease:	Freckles

Freckles

0.100

Biomarker

HPO

Entrez Id:	4683
Gene Symbol:	NBN

NBN

CUI:	C0016689
Disease:	Freckles

Freckles

0.100

Biomarker

HPO

Entrez Id:	7508
Gene Symbol:	XPC

XPC

CUI:	C0016689
Disease:	Freckles

Freckles

0.100

Biomarker

HPO

Entrez Id:	3257
Gene Symbol:	HPS1

HPS1

CUI:	C0016689
Disease:	Freckles

Freckles

0.100

Biomarker

HPO

Entrez Id:	10058
Gene Symbol:	ABCB6

ABCB6

CUI:	C0016689
Disease:	Freckles

Freckles

0.100

Biomarker

HPO

Entrez Id:	8314
Gene Symbol:	BAP1

BAP1

CUI:	C0016689
Disease:	Freckles

Freckles

0.100

Biomarker

HPO

Entrez Id:	7507
Gene Symbol:	XPA

XPA

CUI:	C0016689
Disease:	Freckles

Freckles

0.100

Biomarker

HPO

Entrez Id:	4948
Gene Symbol:	OCA2

OCA2

CUI:	C0016689
Disease:	Freckles

Freckles

0.100

Biomarker

HPO

Entrez Id:	1030
Gene Symbol:	CDKN2B

CDKN2B

CUI:	C0016689
Disease:	Freckles

Freckles

0.100

Biomarker

HPO

Entrez Id:	6885
Gene Symbol:	MAP3K7

MAP3K7

CUI:	C0016689
Disease:	Freckles

Freckles

0.100

Biomarker

HPO

Entrez Id:	2071
Gene Symbol:	ERCC3

ERCC3

CUI:	C0016689
Disease:	Freckles

Freckles

0.100

Biomarker

HPO

Entrez Id:	7306
Gene Symbol:	TYRP1

TYRP1

CUI:	C0016689
Disease:	Freckles

Freckles

0.100

Biomarker

HPO

Entrez Id:	54386
Gene Symbol:	TERF2IP

TERF2IP

CUI:	C0016689
Disease:	Freckles

Freckles

0.100

Biomarker

HPO

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C0016689
Disease:	Freckles

Freckles

0.100

Biomarker

HPO

Entrez Id:	65057
Gene Symbol:	ACD

ACD

CUI:	C0016689
Disease:	Freckles

Freckles

0.100

Biomarker

HPO