SHEP10
MCID: SKN072
MIFTS: 13

Skin/hair/eye Pigmentation, Variation in, 10 (SHEP10)

Categories: Cancer diseases, Eye diseases, Genetic diseases, Skin diseases

Aliases & Classifications for Skin/hair/eye Pigmentation, Variation in, 10

MalaCards integrated aliases for Skin/hair/eye Pigmentation, Variation in, 10:

Name: Skin/hair/eye Pigmentation, Variation in, 10 57 29 6
Pigmentation, Skin/hair/eye, Variation in, Type 10 39
Shep10 57

Classifications:



External Ids:

OMIM® 57 612267
OMIM Phenotypic Series 57 PS227220
MedGen 41 C2677088

Summaries for Skin/hair/eye Pigmentation, Variation in, 10

MalaCards based summary : Skin/hair/eye Pigmentation, Variation in, 10, is also known as pigmentation, skin/hair/eye, variation in, type 10. An important gene associated with Skin/hair/eye Pigmentation, Variation in, 10 is TPCN2 (Two Pore Segment Channel 2). Affiliated tissues include eye and skin.

More information from OMIM: 612267 PS227220

Related Diseases for Skin/hair/eye Pigmentation, Variation in, 10

Symptoms & Phenotypes for Skin/hair/eye Pigmentation, Variation in, 10

Clinical features from OMIM®:

612267 (Updated 05-Apr-2021)

Drugs & Therapeutics for Skin/hair/eye Pigmentation, Variation in, 10

Search Clinical Trials , NIH Clinical Center for Skin/hair/eye Pigmentation, Variation in, 10

Genetic Tests for Skin/hair/eye Pigmentation, Variation in, 10

Genetic tests related to Skin/hair/eye Pigmentation, Variation in, 10:

# Genetic test Affiliating Genes
1 Skin/hair/eye Pigmentation, Variation in, 10 29 TPCN2

Anatomical Context for Skin/hair/eye Pigmentation, Variation in, 10

MalaCards organs/tissues related to Skin/hair/eye Pigmentation, Variation in, 10:

40
Eye, Skin

Publications for Skin/hair/eye Pigmentation, Variation in, 10

Articles related to Skin/hair/eye Pigmentation, Variation in, 10:

# Title Authors PMID Year
1
Two newly identified genetic determinants of pigmentation in Europeans. 6 57
18488028 2008

Variations for Skin/hair/eye Pigmentation, Variation in, 10

ClinVar genetic disease variations for Skin/hair/eye Pigmentation, Variation in, 10:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TPCN2 NM_139075.4(TPCN2):c.1450A>T (p.Met484Leu) SNV association 727 rs35264875 GRCh37: 11:68846399-68846399
GRCh38: 11:69078931-69078931
2 TPCN2 NM_139075.4(TPCN2):c.2201G>A (p.Gly734Glu) SNV association 728 rs3829241 GRCh37: 11:68855363-68855363
GRCh38: 11:69087895-69087895

Expression for Skin/hair/eye Pigmentation, Variation in, 10

Search GEO for disease gene expression data for Skin/hair/eye Pigmentation, Variation in, 10.

Pathways for Skin/hair/eye Pigmentation, Variation in, 10

GO Terms for Skin/hair/eye Pigmentation, Variation in, 10

Sources for Skin/hair/eye Pigmentation, Variation in, 10

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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