DisGeNET - a database of gene-disease associations

Irregular hyperpigmentation, C1860236

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:	2475
Gene Symbol:	MTOR

MTOR

0.100

CausalMutation

phenotype

CLINVAR

Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.

2016

Entrez Id:	3815
Gene Symbol:	KIT

KIT

0.100

Biomarker

phenotype

HPO

Entrez Id:	5728
Gene Symbol:	PTEN

PTEN

0.100

Biomarker

phenotype

HPO

Entrez Id:	84570
Gene Symbol:	COL25A1

COL25A1

0.100

Biomarker

phenotype

HPO

Entrez Id:	55159
Gene Symbol:	RFWD3

RFWD3

0.100

Biomarker

phenotype

HPO

Entrez Id:	57697
Gene Symbol:	FANCM

FANCM

0.100

Biomarker

phenotype

HPO

Entrez Id:	11005
Gene Symbol:	SPINK5

SPINK5

0.100

Biomarker

phenotype

HPO

Entrez Id:	6391
Gene Symbol:	SDHC

SDHC

0.100

Biomarker

phenotype

HPO

Entrez Id:	3081
Gene Symbol:	HGD

HGD

0.100

Biomarker

phenotype

HPO

Entrez Id:	2176
Gene Symbol:	FANCC

FANCC

0.100

Biomarker

phenotype

HPO

Entrez Id:	2187
Gene Symbol:	FANCB

FANCB

0.100

Biomarker

phenotype

HPO

Entrez Id:	675
Gene Symbol:	BRCA2

BRCA2

0.100

Biomarker

phenotype

HPO

Entrez Id:	207
Gene Symbol:	AKT1

AKT1

0.100

Biomarker

phenotype

HPO

Entrez Id:	79092
Gene Symbol:	CARD14

CARD14

0.100

Biomarker

phenotype

HPO

Entrez Id:	3265
Gene Symbol:	HRAS

HRAS

0.100

Biomarker

phenotype

HPO

Entrez Id:	55215
Gene Symbol:	FANCI

FANCI

0.100

Biomarker

phenotype

HPO

Entrez Id:	55120
Gene Symbol:	FANCL

FANCL

0.100

Biomarker

phenotype

HPO

Entrez Id:	3930
Gene Symbol:	LBR

LBR

0.100

Biomarker

phenotype

HPO

Entrez Id:	7516
Gene Symbol:	XRCC2

XRCC2

0.100

Biomarker

phenotype

HPO

Entrez Id:	672
Gene Symbol:	BRCA1

BRCA1

0.100

Biomarker

phenotype

HPO

Entrez Id:	7133
Gene Symbol:	TNFRSF1B

TNFRSF1B

0.100

Biomarker

phenotype

HPO

Entrez Id:	6389
Gene Symbol:	SDHA

SDHA

0.100

Biomarker

phenotype

HPO

Entrez Id:	2188
Gene Symbol:	FANCF

FANCF

0.100

Biomarker

phenotype

HPO

Entrez Id:	29089
Gene Symbol:	UBE2T

UBE2T

0.100

Biomarker

phenotype

HPO

Entrez Id:	8517
Gene Symbol:	IKBKG

IKBKG

0.100

Biomarker

phenotype

HPO