MCID: SKN068
MIFTS: 17

Skin/hair/eye Pigmentation, Variation in, 3

Categories: Genetic diseases, Skin diseases

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:



External Ids:

OMIM 57 601800

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

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

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



Diseases related to Skin/hair/eye Pigmentation, Variation in, 3

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

Clinical features from OMIM:

601800

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

Search Clinical Trials , NIH Clinical Center 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:

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

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

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

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

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

Search GEO for disease gene expression data 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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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