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 ⁵⁸ ³⁰ ⁶

Skin/hair/eye Pigmentation 3, Blue/green Eyes ⁵⁸ ⁶

Skin/hair/eye Pigmentation 3, Light/dark/freckling Skin ⁵⁸

Melanoma, Cutaneous Malignant, Susceptibility to, 8 ⁵⁸

Skin/hair/eye Pigmentation 3, Blue/green Eye Color ⁵⁸

Skin/hair/eye Pigmentation 3, Light/dark Skin ⁵⁸

Melanoma, Cutaneous Malignant 8 ⁵⁸

Eye Color, Green/blue; Gey ⁵⁸

Eye Color, Green/blue ⁵⁸

Eye Color 1; Eycl1 ⁵⁸

Eye Color 1 ⁵⁸

Shep3 ⁵⁸

Eycl1 ⁵⁸

Gey ⁵⁸

Classifications:

MalaCards categories:
Global: Genetic diseases
Anatomical: Skin diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁸ 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	12.7
2	muscular dystrophy-dystroglycanopathy , type a, 9	11.2
3	sarcoma	10.6
4	soft tissue sarcoma	10.4
5	gastrointestinal stromal tumor	10.3
6	spindle cell sarcoma	10.3
7	ewing sarcoma	10.0
8	psychotic disorder	10.0
9	albinism, ocular, with sensorineural deafness	9.6	LOC107984363 TYR
10	strabismus	9.5	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 ³⁰	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:

⁴²

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	1069.31	Molecular basis known ⁵⁸ Pathogenic ⁶ Genetic Tests ³⁰ Typically genetic variations that lead to apparently abnormal laboratory test values ⁵⁸ 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	8.93	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.575C> A (p.Ser192Tyr)	single nucleotide variant	Conflicting interpretations of pathogenicity, association	rs1042602	GRCh37	Chromosome 11, 88911696: 88911696
4	TYR	NM_000372.4(TYR): c.575C> A (p.Ser192Tyr)	single nucleotide variant	Conflicting interpretations of pathogenicity, association	rs1042602	GRCh38	Chromosome 11, 89178528: 89178528
5	TYR	NM_000372.4(TYR): c.1205G> A (p.Arg402Gln)	single nucleotide variant	Conflicting interpretations of pathogenicity, association, other, risk factor	rs1126809	GRCh37	Chromosome 11, 89017961: 89017961
6	TYR	NM_000372.4(TYR): c.1205G> A (p.Arg402Gln)	single nucleotide variant	Conflicting interpretations of pathogenicity, association, other, risk factor	rs1126809	GRCh38	Chromosome 11, 89284793: 89284793
7	TYR	NM_000372.4(TYR): c.1037-7T> A	single nucleotide variant	Pathogenic/Likely pathogenic	rs61754381	GRCh37	Chromosome 11, 88960984: 88960984
8	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

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

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¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

⁵⁰ NCI

⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

⁶⁴ PubMed Health

⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

Skin/hair/eye Pigmentation, Variation in, 3 (GEY)

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

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

Classifications:

External Ids:

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

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

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

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

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

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

Clinical features from OMIM:

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

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

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

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

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

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

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

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

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

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

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

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

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

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