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:

(show all 13)

#	Related Disease	Score	Top Affiliating Genes
1	melanoma, cutaneous malignant 8	12.6
2	muscular dystrophy-dystroglycanopathy , type a, 9	11.1
3	sarcoma	10.5
4	soft tissue sarcoma	10.3
5	gastrointestinal stromal tumor	10.2
6	ewing sarcoma	10.0
7	melanoma	10.0
8	psychotic disorder	10.0
9	adenocarcinoma	10.0
10	papillary adenocarcinoma	10.0
11	spindle cell sarcoma	10.0
12	albinism, ocular, with sensorineural deafness	9.8	LOC107984363 TYR
13	strabismus	9.7	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	1069.32	Molecular basis known ⁵⁷ Pathogenic ⁶ Genetic Tests ²⁹ Typically genetic variations that lead to apparently abnormal laboratory test values ⁵⁷ 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	Benign/Likely benign, association	rs1042602	GRCh37	Chromosome 11, 88911696: 88911696
4	TYR	NM_000372.4(TYR): c.575C> A (p.Ser192Tyr)	single nucleotide variant	Benign/Likely benign, 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

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¹⁶ DrugBank

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¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ 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