SHEP9
MCID: SKN071
MIFTS: 15

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

Categories: Cancer diseases, Eye diseases, 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 57 29 6
Skin/hair/eye Pigmentation 9, Brown/nonbrown Eyes 57
Pigmentation, Skin/hair/eye, Variation in, Type 9 39
Skin/hair/eye Pigmentation 9, Freckling/sunburn 57
Skin/hair/eye Pigmentation 9, Red/nonred Hair 57
Shep9 57

Classifications:



External Ids:

OMIM® 57 611742
OMIM Phenotypic Series 57 PS227220
MedGen 41 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.

More information from OMIM: 611742 PS227220

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 (Updated 20-May-2021)

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 29 ASIP

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

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

40
Eye, Skin

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

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

# Title Authors PMID Year
1
Two newly identified genetic determinants of pigmentation in Europeans. 6 57
18488028 2008
2
A polymorphism in the agouti signaling protein gene is associated with human pigmentation. 57 6
11833005 2002
3
Ectopic expression of the agouti gene in transgenic mice causes obesity, features of type II diabetes, and yellow fur. 57
7761391 1995

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

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 AHCY , ASIP NM_001672.2(ASIP):c.*25A>G SNV association 9308 rs6058017 GRCh37: 20:32856998-32856998
GRCh38: 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
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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