SHEP9
MCID: SKN071
MIFTS: 13

Skin/hair/eye Pigmentation, Variation in, 9 (SHEP9)

Categories: Genetic diseases, Skin diseases

Aliases & Classifications for Skin/hair/eye Pigmentation, Variation in, 9

MalaCards integrated aliases for Skin/hair/eye Pigmentation, Variation in, 9:

Name: Skin/hair/eye Pigmentation, Variation in, 9 58 30 6
Skin/hair/eye Pigmentation 9, Brown/nonbrown Eyes 58
Pigmentation, Skin/hair/eye, Variation in, Type 9 41
Skin/hair/eye Pigmentation 9, Freckling/sunburn 58
Skin/hair/eye Pigmentation 9, Red/nonred Hair 58
Shep9 58

Classifications:



External Ids:

OMIM 58 611742
MedGen 43 C2673200

Summaries for Skin/hair/eye Pigmentation, Variation in, 9

MalaCards based summary : Skin/hair/eye Pigmentation, Variation in, 9, is also known as skin/hair/eye pigmentation 9, brown/nonbrown eyes. An important gene associated with Skin/hair/eye Pigmentation, Variation in, 9 is ASIP (Agouti Signaling Protein). Affiliated tissues include eye and skin, and related phenotype is skeleton.

Description from OMIM: 611742

Related Diseases for Skin/hair/eye Pigmentation, Variation in, 9

Symptoms & Phenotypes for Skin/hair/eye Pigmentation, Variation in, 9

Clinical features from OMIM:

611742

MGI Mouse Phenotypes related to Skin/hair/eye Pigmentation, Variation in, 9:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 skeleton MP:0005390 8.62 AHCY ASIP

Drugs & Therapeutics for Skin/hair/eye Pigmentation, Variation in, 9

Search Clinical Trials , NIH Clinical Center for Skin/hair/eye Pigmentation, Variation in, 9

Genetic Tests for Skin/hair/eye Pigmentation, Variation in, 9

Genetic tests related to Skin/hair/eye Pigmentation, Variation in, 9:

# Genetic test Affiliating Genes
1 Skin/hair/eye Pigmentation, Variation in, 9 30 ASIP

Anatomical Context for Skin/hair/eye Pigmentation, Variation in, 9

MalaCards organs/tissues related to Skin/hair/eye Pigmentation, Variation in, 9:

42
Eye, Skin

Publications for Skin/hair/eye Pigmentation, Variation in, 9

Variations for Skin/hair/eye Pigmentation, Variation in, 9

ClinVar genetic disease variations for Skin/hair/eye Pigmentation, Variation in, 9:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ASIP NM_001672.2(ASIP): c.*25A> G single nucleotide variant association rs6058017 GRCh37 Chromosome 20, 32856998: 32856998
2 ASIP NM_001672.2(ASIP): c.*25A> G single nucleotide variant association rs6058017 GRCh38 Chromosome 20, 34269192: 34269192

Expression for Skin/hair/eye Pigmentation, Variation in, 9

Search GEO for disease gene expression data for Skin/hair/eye Pigmentation, Variation in, 9.

Pathways for Skin/hair/eye Pigmentation, Variation in, 9

GO Terms for Skin/hair/eye Pigmentation, Variation in, 9

Sources for Skin/hair/eye Pigmentation, Variation in, 9

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
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