DisGeNET - a database of gene-disease associations

Albinism, Oculocutaneous, C0078918

Variant: rs61754381 ×

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs61754381

TYR ; LOC107984363

0.700

GeneticVariation

CLINVAR

Molecular outcomes, clinical consequences, and genetic diagnosis of Oculocutaneous Albinism in Pakistani population.

28266639

2017

dbSNP:

rs61754381

TYR ; LOC107984363

0.700

GeneticVariation

CLINVAR

Delineating the genetic heterogeneity of OCA in Hungarian patients.

28629449

2017

dbSNP:

rs61754381

TYR ; LOC107984363

0.700

GeneticVariation

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:

rs61754381

TYR ; LOC107984363

0.700

GeneticVariation

CLINVAR

Mutational Analysis of the TYR and OCA2 Genes in Four Chinese Families with Oculocutaneous Albinism.

25919014

2015

dbSNP:

rs61754381

TYR ; LOC107984363

0.700

GeneticVariation

CLINVAR

A comprehensive study of oculocutaneous albinism type 1 reveals three previously unidentified alleles on the TYR gene.

24721949

2015

dbSNP:

rs61754381

TYR ; LOC107984363

0.700

CausalMutation

CLINVAR

A comprehensive study of oculocutaneous albinism type 1 reveals three previously unidentified alleles on the TYR gene.

24721949

2015

dbSNP:

rs61754381

TYR ; LOC107984363

0.700

CausalMutation

CLINVAR

Mutational Analysis of the TYR and OCA2 Genes in Four Chinese Families with Oculocutaneous Albinism.

25919014

2015

dbSNP:

rs61754381

TYR ; LOC107984363

0.700

CausalMutation

CLINVAR

Mutation spectrum of the TYR and SLC45A2 genes in patients with oculocutaneous albinism.

22294196

2012

dbSNP:

rs61754381

TYR ; LOC107984363

0.700

GeneticVariation

CLINVAR

Mutation spectrum of the TYR and SLC45A2 genes in patients with oculocutaneous albinism.

22294196

2012

dbSNP:

rs61754381

TYR ; LOC107984363

0.700

GeneticVariation

CLINVAR

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

20861488

2011

dbSNP:

rs61754381

TYR ; LOC107984363

0.700

CausalMutation

CLINVAR

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

20861488

2011

dbSNP:

rs61754381

TYR ; LOC107984363

0.700

CausalMutation

CLINVAR

A comprehensive analysis reveals mutational spectra and common alleles in Chinese patients with oculocutaneous albinism.

19865097

2010

dbSNP:

rs61754381

TYR ; LOC107984363

0.700

CausalMutation

CLINVAR

Birth prevalence and mutation spectrum in danish patients with autosomal recessive albinism.

19060277

2009

dbSNP:

rs61754381

TYR ; LOC107984363

0.700

GeneticVariation

CLINVAR

Birth prevalence and mutation spectrum in danish patients with autosomal recessive albinism.

19060277

2009

dbSNP:

rs61754381

TYR ; LOC107984363

0.700

GeneticVariation

CLINVAR

A comprehensive genetic study of autosomal recessive ocular albinism in Caucasian patients.

18326704

2008

dbSNP:

rs61754381

TYR ; LOC107984363

0.700

CausalMutation

CLINVAR

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

18463683

2008

dbSNP:

rs61754381

TYR ; LOC107984363

0.700

CausalMutation

CLINVAR

A comprehensive genetic study of autosomal recessive ocular albinism in Caucasian patients.

18326704

2008

dbSNP:

rs61754381

TYR ; LOC107984363

0.700

GeneticVariation

CLINVAR

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

18463683

2008

dbSNP:

rs61754381

TYR ; LOC107984363

0.700

CausalMutation

CLINVAR

Tyrosinase gene analysis in Japanese patients with oculocutaneous albinism.

15381243

2004

dbSNP:

rs61754381

TYR ; LOC107984363

0.700

GeneticVariation

CLINVAR

Tyrosinase gene analysis in Japanese patients with oculocutaneous albinism.

15381243

2004

dbSNP:

rs61754381

TYR ; LOC107984363

0.700

GeneticVariation

CLINVAR

Prevalent and novel mutations of the tyrosinase gene in Korean patients with tyrosinase-deficient oculocutaneous albinism.

9163730

1997