DisGeNET - a database of gene-disease associations

OCA2, OCA2 melanosomal transmembrane protein, 4948

N. diseases: 141; N. variants: 91

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:

rs121918166

Entrez Id:	4948
Gene Symbol:	OCA2

OCA2

CUI:	C0268495
Disease:

Oculocutaneous albinism type 2

0.810

CausalMutation

CLINVAR

Retrospective analysis in oculocutaneous albinism patients for the 2.7 kb deletion in the OCA2 gene revealed a co-segregation of the controversial variant, p.R305W.

28451379

2017

dbSNP:

rs121918166

Entrez Id:	4948
Gene Symbol:	OCA2

OCA2

CUI:	C0268495
Disease:

Oculocutaneous albinism type 2

0.810

CausalMutation

CLINVAR

A melanosomal two-pore sodium channel regulates pigmentation.

27231233

2016

dbSNP:

rs121918166

Entrez Id:	4948
Gene Symbol:	OCA2

OCA2

CUI:	C0268495
Disease:

Oculocutaneous albinism type 2

0.810

CausalMutation

CLINVAR

Evidence of macular pigment in the central macula in albinism.

26474496

2016

dbSNP:

rs121918166

Entrez Id:	4948
Gene Symbol:	OCA2

OCA2

CUI:	C0268495
Disease:

Oculocutaneous albinism type 2

0.810

CausalMutation

CLINVAR

Importance of nonsynonymous OCA2 variants in human eye color prediction.

27468418

2016

dbSNP:

rs121918166

Entrez Id:	4948
Gene Symbol:	OCA2

OCA2

CUI:	C0268495
Disease:

Oculocutaneous albinism type 2

0.810

CausalMutation

CLINVAR

Prenatal genotyping of four common oculocutaneous albinism genes in 51 Chinese families.

26165494

2015

dbSNP:

rs121918166

Entrez Id:	4948
Gene Symbol:	OCA2

OCA2

CUI:	C0268495
Disease:

Oculocutaneous albinism type 2

0.810

CausalMutation

CLINVAR

An intracellular anion channel critical for pigmentation.

25513726

2014

dbSNP:

rs121918166

Entrez Id:	4948
Gene Symbol:	OCA2

OCA2

CUI:	C0268495
Disease:

Oculocutaneous albinism type 2

0.810

GeneticVariation

BEFREE

The proband was determined to be an OCA2 compound heterozygous mutation carrier with a previously reported conservative missense mutation (V443I) and a novel non-conservative missense mutation (L734R).

23103111

2013

dbSNP:

rs121918166

Entrez Id:	4948
Gene Symbol:	OCA2

OCA2

CUI:	C0268495
Disease:

Oculocutaneous albinism type 2

0.810

GeneticVariation

UNIPROT

DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics.

23504663

2013

dbSNP:

rs121918166

Entrez Id:	4948
Gene Symbol:	OCA2

OCA2

CUI:	C0268495
Disease:

Oculocutaneous albinism type 2

0.810

CausalMutation

CLINVAR

[A de novo mutation of P gene causes oculocutaneous albinism type 2 with prenatal diagnosis].

23744323

2013

dbSNP:

rs121918166

Entrez Id:	4948
Gene Symbol:	OCA2

OCA2

CUI:	C0268495
Disease:

Oculocutaneous albinism type 2

0.810

CausalMutation

CLINVAR

Molecular and clinical characterization of albinism in a large cohort of Italian patients.

20861488

2011

dbSNP:

rs121918166

Entrez Id:	4948
Gene Symbol:	OCA2

OCA2

CUI:	C0268495
Disease:

Oculocutaneous albinism type 2

0.810

CausalMutation

CLINVAR

Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type.

18463683

2008

dbSNP:

rs121918166

Entrez Id:	4948
Gene Symbol:	OCA2

OCA2

CUI:	C0268495
Disease:

Oculocutaneous albinism type 2

0.810

GeneticVariation

UNIPROT

Prenatal diagnosis of oculocutaneous albinism type II and novel mutations in two Chinese families.

17385796

2007

dbSNP:

rs121918166

Entrez Id:	4948
Gene Symbol:	OCA2

OCA2

CUI:	C0268495
Disease:

Oculocutaneous albinism type 2

0.810

CausalMutation

CLINVAR

Mutation analysis in a family with oculocutaneous albinism manifesting in the same generation of three branches.

17960121

2007

dbSNP:

rs121918166

Entrez Id:	4948
Gene Symbol:	OCA2

OCA2

CUI:	C0268495
Disease:

Oculocutaneous albinism type 2

0.810

CausalMutation

CLINVAR

P gene mutations associated with oculocutaneous albinism type II (OCA2).

15712365

2005

dbSNP:

rs121918166

Entrez Id:	4948
Gene Symbol:	OCA2

OCA2

CUI:	C0268495
Disease:

Oculocutaneous albinism type 2

0.810

GeneticVariation

UNIPROT

A novel P gene missense mutation in a Japanese patient with oculocutaneous albinism type II (OCA2).

12727022

2003

dbSNP:

rs121918166

Entrez Id:	4948
Gene Symbol:	OCA2

OCA2

CUI:	C0268495
Disease:

Oculocutaneous albinism type 2

0.810

GeneticVariation

UNIPROT

MC1R mutations modify the classic phenotype of oculocutaneous albinism type 2 (OCA2).

12876664

2003

dbSNP:

rs121918166

Entrez Id:	4948
Gene Symbol:	OCA2

OCA2

CUI:	C0268495
Disease:

Oculocutaneous albinism type 2

0.810

GeneticVariation

UNIPROT

Six novel P gene mutations and oculocutaneous albinism type 2 frequency in Japanese albino patients.

12713581

2003

dbSNP:

rs121918166

Entrez Id:	4948
Gene Symbol:	OCA2

OCA2

CUI:	C0268495
Disease:

Oculocutaneous albinism type 2

0.810

CausalMutation

CLINVAR

Oculocutaneous albinism type 2 with a P gene missense mutation in a patient with Angelman syndrome.

10905897

2000

dbSNP:

rs121918166

Entrez Id:	4948
Gene Symbol:	OCA2

OCA2

CUI:	C0268495
Disease:

Oculocutaneous albinism type 2

0.810

GeneticVariation

UNIPROT

Identification of P gene mutations in individuals with oculocutaneous albinism in sub-Saharan Africa.

10649493

2000

dbSNP:

rs121918166

Entrez Id:	4948
Gene Symbol:	OCA2

OCA2

CUI:	C0268495
Disease:

Oculocutaneous albinism type 2

0.810

GeneticVariation

CLINVAR

Novel and recurrent mutations in the tyrosinase gene and the P gene in the German albino population.

10987646

1999

dbSNP:

rs121918166

Entrez Id:	4948
Gene Symbol:	OCA2

OCA2

CUI:	C0268495
Disease:

Oculocutaneous albinism type 2

0.810

GeneticVariation

UNIPROT

Novel and recurrent mutations in the tyrosinase gene and the P gene in the German albino population.

10987646

1999

dbSNP:

rs121918166

Entrez Id:	4948
Gene Symbol:	OCA2

OCA2

CUI:	C0268495
Disease:

Oculocutaneous albinism type 2

0.810

GeneticVariation

UNIPROT

Mutations of the human P gene associated with Type II oculocutaneous albinism (OCA2). Mutations in brief no. 205. Online.

10671067

1998

dbSNP:

rs121918166

Entrez Id:	4948
Gene Symbol:	OCA2

OCA2

CUI:	C0268495
Disease:

Oculocutaneous albinism type 2

0.810

CausalMutation

CLINVAR

Complementation of hypopigmentation in p-mutant (pink-eyed dilution) mouse melanocytes by normal human P cDNA, and defective complementation by OCA2 mutant sequences.

8980282

1997

dbSNP:

rs121918166

Entrez Id:	4948
Gene Symbol:	OCA2

OCA2

CUI:	C0268495
Disease:

Oculocutaneous albinism type 2

0.810

GeneticVariation

CLINVAR

Complementation of hypopigmentation in p-mutant (pink-eyed dilution) mouse melanocytes by normal human P cDNA, and defective complementation by OCA2 mutant sequences.

8980282

1997

dbSNP:

rs121918166

Entrez Id:	4948
Gene Symbol:	OCA2

OCA2

CUI:	C0268495
Disease:

Oculocutaneous albinism type 2

0.810

GeneticVariation

UNIPROT

Novel mutations of the P gene in type II oculocutaneous albinism (OCA2).

9259203

1997