DisGeNET - a database of gene-disease associations

ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder), C1847024

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:

rs104894313

TYR ; LOC107984363

0.800

GeneticVariation

UNIPROT

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

10987646

1999

dbSNP:

rs104894314

TYR ; LOC107984363

0.800

GeneticVariation

UNIPROT

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

10987646

1999

dbSNP:

rs104894313

TYR ; LOC107984363

0.800

GeneticVariation

UNIPROT

Mutations of the tyrosinase gene in patients with oculocutaneous albinism from various ethnic groups in Israel.

8128955

1994

dbSNP:

rs104894314

TYR ; LOC107984363

0.800

GeneticVariation

UNIPROT

Mutations of the tyrosinase gene in patients with oculocutaneous albinism from various ethnic groups in Israel.

8128955

1994

dbSNP:

rs104894313

TYR ; LOC107984363

0.800

GeneticVariation

UNIPROT

"Tyrosinase gene mutations associated with type IB (""yellow"") oculocutaneous albinism."

1903591

1991

dbSNP:

rs104894313

TYR ; LOC107984363

0.800

GeneticVariation

UNIPROT

A tyrosinase gene missense mutation in temperature-sensitive type I oculocutaneous albinism. A human homologue to the Siamese cat and the Himalayan mouse.

1900309

1991

dbSNP:

rs104894314

TYR ; LOC107984363

0.800

GeneticVariation

UNIPROT

A tyrosinase gene missense mutation in temperature-sensitive type I oculocutaneous albinism. A human homologue to the Siamese cat and the Himalayan mouse.

1900309

1991

dbSNP:

rs104894314

TYR ; LOC107984363

0.800

GeneticVariation

UNIPROT

"Tyrosinase gene mutations associated with type IB (""yellow"") oculocutaneous albinism."

1903591

1991

dbSNP:

rs104894313

TYR ; LOC107984363

0.800

CausalMutation

CLINVAR

dbSNP:

rs104894313

TYR ; LOC107984363

0.800

GeneticVariation

CLINVAR

dbSNP:

rs104894314

TYR ; LOC107984363

0.800

GeneticVariation

CLINVAR

dbSNP:

rs104894314

TYR ; LOC107984363

0.800

CausalMutation

CLINVAR

dbSNP:

rs121908011

TYR ; LOC107984363

0.700

CausalMutation

CLINVAR

Genotype analysis in a patient with oculocutaneous albinism 1 minimal pigment type.

21985232

2012

dbSNP:

rs104894316

TYR ; LOC107984363

0.700

GeneticVariation

UNIPROT

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

10987646

1999

dbSNP:

rs145513733

TYR ; LOC107984363

0.700

GeneticVariation

UNIPROT

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

10987646

1999

dbSNP:

rs61754391

TYR ; LOC107984363

0.700

GeneticVariation

UNIPROT

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

10987646

1999

dbSNP:

rs61754393

TYR ; LOC107984363

0.700

GeneticVariation

UNIPROT

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

10987646

1999

dbSNP:

rs104894316

TYR ; LOC107984363

0.700

GeneticVariation

UNIPROT

Mutations of the tyrosinase gene in patients with oculocutaneous albinism from various ethnic groups in Israel.

8128955

1994

dbSNP:

rs145513733

TYR ; LOC107984363

0.700

GeneticVariation

UNIPROT

Mutations of the tyrosinase gene in patients with oculocutaneous albinism from various ethnic groups in Israel.

8128955

1994

dbSNP:

rs61754391

TYR ; LOC107984363

0.700

GeneticVariation

UNIPROT

Mutations of the tyrosinase gene in patients with oculocutaneous albinism from various ethnic groups in Israel.

8128955

1994

dbSNP:

rs61754393

TYR ; LOC107984363

0.700

GeneticVariation

UNIPROT

Mutations of the tyrosinase gene in patients with oculocutaneous albinism from various ethnic groups in Israel.

8128955

1994

dbSNP:

rs121908011

TYR ; LOC107984363

0.700

CausalMutation

CLINVAR

Mutational mapping of the catalytic activities of human tyrosinase.

1429711

1992

dbSNP:

rs104894316

TYR ; LOC107984363

0.700

GeneticVariation

UNIPROT

"Tyrosinase gene mutations associated with type IB (""yellow"") oculocutaneous albinism."

1903591

1991

dbSNP:

rs104894316

TYR ; LOC107984363

0.700

GeneticVariation

UNIPROT

A tyrosinase gene missense mutation in temperature-sensitive type I oculocutaneous albinism. A human homologue to the Siamese cat and the Himalayan mouse.

1900309

1991

dbSNP:

rs145513733

TYR ; LOC107984363

0.700

GeneticVariation

UNIPROT

A tyrosinase gene missense mutation in temperature-sensitive type I oculocutaneous albinism. A human homologue to the Siamese cat and the Himalayan mouse.

1900309

1991