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SHEP3
MCID: SKN068
MIFTS: 21

Skin/hair/eye Pigmentation, Variation in, 3 (SHEP3)

Categories: Genetic diseases, Skin diseases
Genes Variations Tissues Related diseases Publications
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Aliases & Classifications for Skin/hair/eye Pigmentation, Variation in, 3

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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

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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

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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 11)
# 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 gastrointestinal stromal tumor 10.4
5 soft tissue sarcoma 10.4
6 spindle cell sarcoma 10.4
7 osteogenic sarcoma 10.0
8 ewing sarcoma 10.0
9 psychotic disorder 10.0
10 albinism, ocular, with sensorineural deafness 9.6 LOC107984363 TYR
11 strabismus 9.5 LOC107984363 TYR

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

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Clinical features from OMIM:

601800
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Drugs & Therapeutics for Skin/hair/eye Pigmentation, Variation in, 3

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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

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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

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

(show all 14)
# Title Authors Year
1
DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics. ( 23504663 )
2013
2
The R402Q tyrosinase variant does not cause autosomal recessive ocular albinism. ( 19208379 )
2009
3
Oculocutaneous albinism spectrum. ( 19533789 )
2009
4
A comprehensive genetic study of autosomal recessive ocular albinism in Caucasian patients. ( 18326704 )
2008
5
ASIP and TYR pigmentation variants associate with cutaneous melanoma and basal cell carcinoma. ( 18488027 )
2008
6
A new hypothesis of OCA1B. ( 18925668 )
2008
7
Two newly identified genetic determinants of pigmentation in Europeans. ( 18488028 )
2008
8
Genetic determinants of hair, eye and skin pigmentation in Europeans. ( 17952075 )
2007
9
A genomewide association study of skin pigmentation in a South Asian population. ( 17999355 )
2007
10
A common temperature-sensitive allelic form of human tyrosinase is retained in the endoplasmic reticulum at the nonpermissive temperature. ( 10766867 )
2000
11
Apparent digenic inheritance of Waardenburg syndrome type 2 (WS2) and autosomal recessive ocular albinism (AROA). ( 9158138 )
1997
12
Autosomal recessive ocular albinism associated with a functionally significant tyrosinase gene polymorphism. ( 7704033 )
1995
13
Homozygous tyrosinase gene mutation in an American black with tyrosinase-negative (type IA) oculocutaneous albinism. ( 1899321 )
1991
14
Heterogeneity in Waardenburg's syndrome. Report of a family with ocular albinism. ( 666627 )
1978
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Variations for Skin/hair/eye Pigmentation, Variation in, 3

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

6 (show all 32)
# Gene Variation Type Significance SNP ID Assembly Location
1 TYR NM_000372.4(TYR): c.823G> T (p.Val275Phe) single nucleotide variant Pathogenic/Likely pathogenic rs104894314 GRCh37 Chromosome 11, 88924373: 88924373
2 TYR NM_000372.4(TYR): c.823G> T (p.Val275Phe) single nucleotide variant Pathogenic/Likely pathogenic rs104894314 GRCh38 Chromosome 11, 89191205: 89191205
3 TYR NM_000372.4(TYR): c.1118C> A (p.Thr373Lys) single nucleotide variant Pathogenic rs61754388 GRCh37 Chromosome 11, 88961072: 88961072
4 TYR NM_000372.4(TYR): c.1118C> A (p.Thr373Lys) single nucleotide variant Pathogenic rs61754388 GRCh38 Chromosome 11, 89227904: 89227904
5 TYR NM_000372.4(TYR): c.1147G> A (p.Asp383Asn) single nucleotide variant Pathogenic rs121908011 GRCh37 Chromosome 11, 88961101: 88961101
6 TYR NM_000372.4(TYR): c.1147G> A (p.Asp383Asn) single nucleotide variant Pathogenic rs121908011 GRCh38 Chromosome 11, 89227933: 89227933
7 TYR NM_000372.4(TYR): c.1217C> T (p.Pro406Leu) single nucleotide variant Pathogenic/Likely pathogenic rs104894313 GRCh37 Chromosome 11, 89017973: 89017973
8 TYR NM_000372.4(TYR): c.1217C> T (p.Pro406Leu) single nucleotide variant Pathogenic/Likely pathogenic rs104894313 GRCh38 Chromosome 11, 89284805: 89284805
9 TYR NM_000372.4(TYR): c.575C> A (p.Ser192Tyr) single nucleotide variant Conflicting interpretations of pathogenicity, association rs1042602 GRCh37 Chromosome 11, 88911696: 88911696
10 TYR NM_000372.4(TYR): c.575C> A (p.Ser192Tyr) single nucleotide variant Conflicting interpretations of pathogenicity, association rs1042602 GRCh38 Chromosome 11, 89178528: 89178528
11 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
12 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
13 TYR NM_000372.4(TYR): c.164G> A (p.Cys55Tyr) single nucleotide variant Pathogenic rs28940879 GRCh37 Chromosome 11, 88911285: 88911285
14 TYR NM_000372.4(TYR): c.164G> A (p.Cys55Tyr) single nucleotide variant Pathogenic rs28940879 GRCh38 Chromosome 11, 89178117: 89178117
15 TYR NM_000372.4(TYR): c.140G> A (p.Gly47Asp) single nucleotide variant Pathogenic/Likely pathogenic rs61753180 GRCh37 Chromosome 11, 88911261: 88911261
16 TYR NM_000372.4(TYR): c.140G> A (p.Gly47Asp) single nucleotide variant Pathogenic/Likely pathogenic rs61753180 GRCh38 Chromosome 11, 89178093: 89178093
17 TYR NM_000372.4(TYR): c.649C> T (p.Arg217Trp) single nucleotide variant Likely pathogenic rs63159160 GRCh37 Chromosome 11, 88911770: 88911770
18 TYR NM_000372.4(TYR): c.649C> T (p.Arg217Trp) single nucleotide variant Likely pathogenic rs63159160 GRCh38 Chromosome 11, 89178602: 89178602
19 TYR NM_000372.4(TYR): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs28940881 GRCh37 Chromosome 11, 88911122: 88911122
20 TYR NM_000372.4(TYR): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs28940881 GRCh38 Chromosome 11, 89177954: 89177954
21 TYR NM_000372.4(TYR): c.1037-7T> A single nucleotide variant Pathogenic/Likely pathogenic rs61754381 GRCh37 Chromosome 11, 88960984: 88960984
22 TYR NM_000372.4(TYR): c.1037-7T> A single nucleotide variant Pathogenic/Likely pathogenic rs61754381 GRCh38 Chromosome 11, 89227816: 89227816
23 TYR NM_000372.4(TYR): c.1199G> T (p.Trp400Leu) single nucleotide variant Pathogenic/Likely pathogenic rs62645916 GRCh37 Chromosome 11, 89017955: 89017955
24 TYR NM_000372.4(TYR): c.1199G> T (p.Trp400Leu) single nucleotide variant Pathogenic/Likely pathogenic rs62645916 GRCh38 Chromosome 11, 89284787: 89284787
25 TYR NM_000372.4(TYR): c.1366+4A> G single nucleotide variant Uncertain significance rs61754398 GRCh37 Chromosome 11, 89018126: 89018126
26 TYR NM_000372.4(TYR): c.1366+4A> G single nucleotide variant Uncertain significance rs61754398 GRCh38 Chromosome 11, 89284958: 89284958
27 TYR NM_000372.4(TYR): c.346C> T (p.Arg116Ter) single nucleotide variant Pathogenic rs61753256 GRCh37 Chromosome 11, 88911467: 88911467
28 TYR NM_000372.4(TYR): c.346C> T (p.Arg116Ter) single nucleotide variant Pathogenic rs61753256 GRCh38 Chromosome 11, 89178299: 89178299
29 TYR NM_000372.4(TYR): c.832C> T (p.Arg278Ter) single nucleotide variant Pathogenic rs62645904 GRCh37 Chromosome 11, 88924382: 88924382
30 TYR NM_000372.4(TYR): c.832C> T (p.Arg278Ter) single nucleotide variant Pathogenic rs62645904 GRCh38 Chromosome 11, 89191214: 89191214
31 TYR NM_000372.4(TYR): c.915C> A (p.Asp305Glu) single nucleotide variant Uncertain significance rs142170797 GRCh38 Chromosome 11, 89191297: 89191297
32 TYR NM_000372.4(TYR): c.915C> A (p.Asp305Glu) single nucleotide variant Uncertain significance rs142170797 GRCh37 Chromosome 11, 88924465: 88924465
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Expression for Skin/hair/eye Pigmentation, Variation in, 3

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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

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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