DisGeNET - a database of gene-disease associations

Albinism, Ocular, C0078917

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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:	8943
Gene Symbol:	AP3D1

AP3D1

0.400

Biomarker

disease

HPO

Entrez Id:	4935
Gene Symbol:	GPR143

GPR143

0.400

GeneticVariation

disease

CLINVAR

Entrez Id:	4935
Gene Symbol:	GPR143

GPR143

0.400

Biomarker

disease

HPO

Entrez Id:	7299
Gene Symbol:	TYR

TYR

0.140

CausalMutation

disease

CLINVAR

Entrez Id:	7299
Gene Symbol:	TYR

TYR

0.140

Biomarker

disease

HPO

Entrez Id:	7299
Gene Symbol:	TYR

TYR

0.140

GeneticVariation

disease

CLINVAR

Entrez Id:	7306
Gene Symbol:	TYRP1

TYRP1

0.130

GeneticVariation

disease

CLINVAR

Entrez Id:	3257
Gene Symbol:	HPS1

HPS1

0.120

Biomarker

disease

HPO

Entrez Id:	4286
Gene Symbol:	MITF

MITF

0.120

Biomarker

disease

HPO

Entrez Id:	79803
Gene Symbol:	HPS6

HPS6

0.110

Biomarker

disease

HPO

Entrez Id:	8546
Gene Symbol:	AP3B1

AP3B1

0.110

Biomarker

disease

HPO

Entrez Id:	6497
Gene Symbol:	SKI

SKI

0.100

Biomarker

disease

HPO

Entrez Id:	1130
Gene Symbol:	LYST

LYST

0.100

Biomarker

disease

HPO

Entrez Id:	63976
Gene Symbol:	PRDM16

PRDM16

0.100

Biomarker

disease

HPO

Entrez Id:	2563
Gene Symbol:	GABRD

GABRD

0.100

Biomarker

disease

HPO

Entrez Id:	388552
Gene Symbol:	BLOC1S3

BLOC1S3

0.100

Biomarker

disease

HPO

Entrez Id:	11234
Gene Symbol:	HPS5

HPS5

0.100

Biomarker

disease

HPO

Entrez Id:	8514
Gene Symbol:	KCNAB2

KCNAB2

0.100

Biomarker

disease

HPO

Entrez Id:	26258
Gene Symbol:	BLOC1S6

BLOC1S6

0.100

Biomarker

disease

HPO

Entrez Id:	473
Gene Symbol:	RERE

RERE

0.100

Biomarker

disease

HPO

Entrez Id:	89781
Gene Symbol:	HPS4

HPS4

0.100

Biomarker

disease

HPO

Entrez Id:	57724
Gene Symbol:	EPG5

EPG5

0.100

Biomarker

disease

HPO

Entrez Id:	84062
Gene Symbol:	DTNBP1

DTNBP1

0.100

Biomarker

disease

HPO

Entrez Id:	23203
Gene Symbol:	PMPCA

PMPCA

0.100

Biomarker

disease

HPO

Entrez Id:	412
Gene Symbol:	STS

STS

0.020

GeneticVariation

disease

BEFREE

We studied the linkage of X-linked Nettleship-Falls ocular albinism (OA1) to Xp22.1-Xp22.3 RFLPs at 12 loci in five families, including one in which OA1 cosegregates with a deletion of steroid sulfatase (STS).

1674724

1991