Skin/hair/eye Pigmentation, Variation in, 3 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Skin/hair/eye Pigmentation, Variation in, 3

MalaCards integrated aliases for Skin/hair/eye Pigmentation, Variation in, 3:

Name: Skin/hair/eye Pigmentation, Variation in, 3 ⁵⁷ ²⁹ ⁶

Skin/hair/eye Pigmentation 3, Blue/green Eyes ⁵⁷ ⁶

Skin/hair/eye Pigmentation 3, Light/dark/freckling Skin ⁵⁷

Melanoma, Cutaneous Malignant, Susceptibility to, 8 ⁵⁷

Skin/hair/eye Pigmentation 3, Blue/green Eye Color ⁵⁷

Skin/hair/eye Pigmentation 3, Light/dark Skin ⁵⁷

Melanoma, Cutaneous Malignant 8 ⁵⁷

Eye Color, Green/blue; Gey ⁵⁷

Eye Color, Green/blue ⁵⁷

Eye Color 1; Eycl1 ⁵⁷

Eye Color 1 ⁵⁷

Shep3 ⁵⁷

Eycl1 ⁵⁷

Gey ⁵⁷

Classifications:

MalaCards categories:
Global: Genetic diseases
Anatomical: Skin diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 601800

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Summaries for Skin/hair/eye Pigmentation, Variation in, 3

MalaCards based summary : Skin/hair/eye Pigmentation, Variation in, 3, also known as skin/hair/eye pigmentation 3, blue/green eyes, is related to melanoma, cutaneous malignant 8 and muscular dystrophy-dystroglycanopathy , type a, 9. An important gene associated with Skin/hair/eye Pigmentation, Variation in, 3 is TYR (Tyrosinase). Affiliated tissues include eye and skin.

Description from OMIM: 601800

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Related Diseases for Skin/hair/eye Pigmentation, Variation in, 3

Diseases in the Skin/hair/eye Pigmentation, Variation in, 2 family:

Skin/hair/eye Pigmentation, Variation in, 6	Skin/hair/eye Pigmentation, Variation in, 1
Skin/hair/eye Pigmentation, Variation in, 5	Skin/hair/eye Pigmentation, Variation in, 3
Skin/hair/eye Pigmentation, Variation in, 7	Skin/hair/eye Pigmentation, Variation in, 8
Skin/hair/eye Pigmentation, Variation in, 9	Skin/hair/eye Pigmentation, Variation in, 10
Skin/hair/eye Pigmentation, Variation in, 11

Diseases related to Skin/hair/eye Pigmentation, Variation in, 3 via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	melanoma, cutaneous malignant 8	11.4
2	muscular dystrophy-dystroglycanopathy , type a, 9	11.0
3	sarcoma	10.3
4	soft tissue sarcoma	10.1
5	gastrointestinal stromal tumor	10.0
6	melanoma	9.8
7	adenocarcinoma	9.8
8	papillary adenocarcinoma	9.8
9	thyroiditis	9.8
10	albinism, ocular, with sensorineural deafness	9.0	LOC107984363 TYR

Graphical network of the top 20 diseases related to Skin/hair/eye Pigmentation, Variation in, 3:

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Symptoms & Phenotypes for Skin/hair/eye Pigmentation, Variation in, 3

Clinical features from OMIM:

601800

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Drugs & Therapeutics for Skin/hair/eye Pigmentation, Variation in, 3

Search Clinical Trials , NIH Clinical Center for Skin/hair/eye Pigmentation, Variation in, 3

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Genetic Tests for Skin/hair/eye Pigmentation, Variation in, 3

Genetic tests related to Skin/hair/eye Pigmentation, Variation in, 3:

#	Genetic test	Affiliating Genes
1	Skin/hair/eye Pigmentation, Variation in, 3 ²⁹	TYR

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Anatomical Context for Skin/hair/eye Pigmentation, Variation in, 3

MalaCards organs/tissues related to Skin/hair/eye Pigmentation, Variation in, 3:

⁴¹

Eye, Skin

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Publications for Skin/hair/eye Pigmentation, Variation in, 3

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Genes for Skin/hair/eye Pigmentation, Variation in, 3

Genes related to Skin/hair/eye Pigmentation, Variation in, 3 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	TYR	Tyrosinase	Protein Coding	1094.4	Molecular basis known ⁵⁷ Pathogenic ⁶ Genetic Tests ²⁹ Typically genetic variations that lead to apparently abnormal laboratory test values ⁵⁷ Pathogenic/Likely pathogenic ⁶ GeneCards inferred via : Variants (show sections)	1899321 17999355 17952075 (more) 18326704 19208379 7704033 18925668 19533789 23504663 666627 9158138 10766867 18488028 18488027
2	LOC107984363	Uncharacterized LOC107984363	RNA Gene	9.02	GeneCards inferred via : Variants (show sections)

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Variations for Skin/hair/eye Pigmentation, Variation in, 3

ClinVar genetic disease variations for Skin/hair/eye Pigmentation, Variation in, 3:

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	TYR	NM_000372.4(TYR): c.1118C> A (p.Thr373Lys)	single nucleotide variant	Pathogenic	rs61754388	GRCh37	Chromosome 11, 88961072: 88961072
2	TYR	NM_000372.4(TYR): c.1118C> A (p.Thr373Lys)	single nucleotide variant	Pathogenic	rs61754388	GRCh38	Chromosome 11, 89227904: 89227904
3	TYR	NM_000372.4(TYR): c.1037-7T> A	single nucleotide variant	Pathogenic/Likely pathogenic	rs61754381	GRCh37	Chromosome 11, 88960984: 88960984
4	TYR	NM_000372.4(TYR): c.1037-7T> A	single nucleotide variant	Pathogenic/Likely pathogenic	rs61754381	GRCh38	Chromosome 11, 89227816: 89227816

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Expression for Skin/hair/eye Pigmentation, Variation in, 3

Search GEO for disease gene expression data for Skin/hair/eye Pigmentation, Variation in, 3.

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Pathways for Skin/hair/eye Pigmentation, Variation in, 3

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GO Terms for Skin/hair/eye Pigmentation, Variation in, 3

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Sources for Skin/hair/eye Pigmentation, Variation in, 3

¹ BioSystems

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⁷¹ TGDB

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⁷⁶ Wikipedia