SHEP7
MCID: SKN069
MIFTS: 13

Skin/hair/eye Pigmentation, Variation in, 7 (SHEP7)

Categories: Genetic diseases, Skin diseases

Aliases & Classifications for Skin/hair/eye Pigmentation, Variation in, 7

MalaCards integrated aliases for Skin/hair/eye Pigmentation, Variation in, 7:

Name: Skin/hair/eye Pigmentation, Variation in, 7 56 29 6
Skin/hair/eye Pigmentation 7, Dark/light Skin 56
Shep7 56

Classifications:



External Ids:

OMIM 56 611664
OMIM Phenotypic Series 56 PS227220
MedGen 41 C2674081

Summaries for Skin/hair/eye Pigmentation, Variation in, 7

MalaCards based summary : Skin/hair/eye Pigmentation, Variation in, 7, is also known as skin/hair/eye pigmentation 7, dark/light skin. An important gene associated with Skin/hair/eye Pigmentation, Variation in, 7 is KITLG (KIT Ligand). Affiliated tissues include skin and eye.

More information from OMIM: 611664 PS227220

Related Diseases for Skin/hair/eye Pigmentation, Variation in, 7

Symptoms & Phenotypes for Skin/hair/eye Pigmentation, Variation in, 7

Clinical features from OMIM:

611664

Drugs & Therapeutics for Skin/hair/eye Pigmentation, Variation in, 7

Search Clinical Trials , NIH Clinical Center for Skin/hair/eye Pigmentation, Variation in, 7

Genetic Tests for Skin/hair/eye Pigmentation, Variation in, 7

Genetic tests related to Skin/hair/eye Pigmentation, Variation in, 7:

# Genetic test Affiliating Genes
1 Skin/hair/eye Pigmentation, Variation in, 7 29 KITLG

Anatomical Context for Skin/hair/eye Pigmentation, Variation in, 7

MalaCards organs/tissues related to Skin/hair/eye Pigmentation, Variation in, 7:

40
Skin, Eye

Publications for Skin/hair/eye Pigmentation, Variation in, 7

Articles related to Skin/hair/eye Pigmentation, Variation in, 7:

# Title Authors PMID Year
1
Genetic determinants of hair, eye and skin pigmentation in Europeans. 56 6
17952075 2007
2
cis-Regulatory changes in Kit ligand expression and parallel evolution of pigmentation in sticklebacks and humans. 56 6
18083106 2007
3
A molecular basis for classic blond hair color in Europeans. 6
24880339 2014

Variations for Skin/hair/eye Pigmentation, Variation in, 7

ClinVar genetic disease variations for Skin/hair/eye Pigmentation, Variation in, 7:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KITLG NC_000012.11:g.89328335T>CSNV Affects 12811 rs12821256 12:89328335-89328335 12:88934558-88934558
2 KITLG NC_000012.12:g.88905969C>TSNV Affects 12812 rs642742 12:89299746-89299746 12:88905969-88905969

Expression for Skin/hair/eye Pigmentation, Variation in, 7

Search GEO for disease gene expression data for Skin/hair/eye Pigmentation, Variation in, 7.

Pathways for Skin/hair/eye Pigmentation, Variation in, 7

GO Terms for Skin/hair/eye Pigmentation, Variation in, 7

Sources for Skin/hair/eye Pigmentation, Variation in, 7

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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