DisGeNET - a database of gene-disease associations

Hyperpigmentation, C0162834

Source: ALL

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

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	8086
Gene Symbol:	AAAS

AAAS

0.100

Biomarker

phenotype

HPO

Entrez Id:	215
Gene Symbol:	ABCD1

ABCD1

0.100

Biomarker

phenotype

HPO

Entrez Id:	196
Gene Symbol:	AHR

AHR

0.300

Biomarker

phenotype

CTD_human

Here, we hypothesized that BA may also act as a ligand for AhR and possibly regulate the melanogenic pathway to induced hyperpigmentation.

2017

Entrez Id:	212
Gene Symbol:	ALAS2

ALAS2

0.100

Biomarker

phenotype

HPO

Entrez Id:	118429
Gene Symbol:	ANTXR2

ANTXR2

0.100

Biomarker

phenotype

HPO

Entrez Id:	324
Gene Symbol:	APC

APC

0.100

Biomarker

phenotype

HPO

Entrez Id:	348
Gene Symbol:	APOE

APOE

0.100

Biomarker

phenotype

HPO

Entrez Id:	650
Gene Symbol:	BMP2

BMP2

0.100

Biomarker

phenotype

HPO

Entrez Id:	673
Gene Symbol:	BRAF

BRAF

0.100

Biomarker

phenotype

HPO

Entrez Id:	56244
Gene Symbol:	BTNL2

BTNL2

0.100

Biomarker

phenotype

HPO

Entrez Id:	1294
Gene Symbol:	COL7A1

COL7A1

0.100

CausalMutation

phenotype

CLINVAR

Entrez Id:	1349
Gene Symbol:	COX7B

COX7B

0.100

Biomarker

phenotype

HPO

Entrez Id:	1475
Gene Symbol:	CSTA

CSTA

0.100

Biomarker

phenotype

HPO

Entrez Id:	1583
Gene Symbol:	CYP11A1

CYP11A1

0.100

Biomarker

phenotype

HPO

Entrez Id:	1584
Gene Symbol:	CYP11B1

CYP11B1

0.100

Biomarker

phenotype

HPO

Entrez Id:	1736
Gene Symbol:	DKC1

DKC1

0.100

Biomarker

phenotype

HPO

Entrez Id:	1859
Gene Symbol:	DYRK1A

DYRK1A

0.100

CausalMutation

phenotype

CLINVAR

Entrez Id:	2176
Gene Symbol:	FANCC

FANCC

0.100

Biomarker

phenotype

HPO

Entrez Id:	2629
Gene Symbol:	GBA

GBA

0.100

Biomarker

phenotype

HPO

Entrez Id:	10804
Gene Symbol:	GJB6

GJB6

0.100

Biomarker

phenotype

HPO

Entrez Id:	2776
Gene Symbol:	GNAQ

GNAQ

0.100

CausalMutation

phenotype

CLINVAR

Entrez Id:	3052
Gene Symbol:	HCCS

HCCS

0.100

Biomarker

phenotype

HPO

Entrez Id:	3077
Gene Symbol:	HFE

HFE

0.100

Biomarker

phenotype

HPO

Entrez Id:	148738
Gene Symbol:	HJV

HJV

0.100

CausalMutation

phenotype

CLINVAR

Entrez Id:	148738
Gene Symbol:	HJV

HJV

0.100

Biomarker

phenotype

HPO