SHEP8
MCID: SKN070
MIFTS: 14

Skin/hair/eye Pigmentation, Variation in, 8 (SHEP8)

Categories: Genetic diseases, Skin diseases

Aliases & Classifications for Skin/hair/eye Pigmentation, Variation in, 8

MalaCards integrated aliases for Skin/hair/eye Pigmentation, Variation in, 8:

Name: Skin/hair/eye Pigmentation, Variation in, 8 58 30 13 6
Skin/hair/eye Pigmentation 8, Blue/light Eye Color 58
Pigmentation, Skin/hair/eye, Variation in, Type 8 41
Skin/hair/eye Pigmentation 8, Freckling/sunburn 58
Skin/hair/eye Pigmentation 8, Brown Hair 58
Skin/hair/eye Pigmentation 8, Fair Skin 58
Shep8 58

Classifications:



External Ids:

OMIM 58 611724
MedGen 43 C2673265

Summaries for Skin/hair/eye Pigmentation, Variation in, 8

MalaCards based summary : Skin/hair/eye Pigmentation, Variation in, 8, is also known as skin/hair/eye pigmentation 8, blue/light eye color. An important gene associated with Skin/hair/eye Pigmentation, Variation in, 8 is IRF4 (Interferon Regulatory Factor 4). Affiliated tissues include skin and eye.

Description from OMIM: 611724

Related Diseases for Skin/hair/eye Pigmentation, Variation in, 8

Symptoms & Phenotypes for Skin/hair/eye Pigmentation, Variation in, 8

Clinical features from OMIM:

611724

Drugs & Therapeutics for Skin/hair/eye Pigmentation, Variation in, 8

Search Clinical Trials , NIH Clinical Center for Skin/hair/eye Pigmentation, Variation in, 8

Genetic Tests for Skin/hair/eye Pigmentation, Variation in, 8

Genetic tests related to Skin/hair/eye Pigmentation, Variation in, 8:

# Genetic test Affiliating Genes
1 Skin/hair/eye Pigmentation, Variation in, 8 30 IRF4

Anatomical Context for Skin/hair/eye Pigmentation, Variation in, 8

MalaCards organs/tissues related to Skin/hair/eye Pigmentation, Variation in, 8:

42
Skin, Eye

Publications for Skin/hair/eye Pigmentation, Variation in, 8

Articles related to Skin/hair/eye Pigmentation, Variation in, 8:

# Title Authors Year
1
Allele-specific transcriptional regulation of IRF4 in melanocytes is mediated by chromatin looping of the intronic rs12203592 enhancer to the IRF4 promoter. ( 25631878 )
2015
2
A polymorphism in IRF4 affects human pigmentation through a tyrosinase-dependent MITF/TFAP2A pathway. ( 24267888 )
2013
3
A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation. ( 18483556 )
2008

Variations for Skin/hair/eye Pigmentation, Variation in, 8

ClinVar genetic disease variations for Skin/hair/eye Pigmentation, Variation in, 8:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 IRF4 NM_002460.3(IRF4): c.492+386C> T single nucleotide variant Affects rs12203592 GRCh37 Chromosome 6, 396321: 396321
2 IRF4 NM_002460.3(IRF4): c.492+386C> T single nucleotide variant Affects rs12203592 GRCh38 Chromosome 6, 396321: 396321

Expression for Skin/hair/eye Pigmentation, Variation in, 8

Search GEO for disease gene expression data for Skin/hair/eye Pigmentation, Variation in, 8.

Pathways for Skin/hair/eye Pigmentation, Variation in, 8

GO Terms for Skin/hair/eye Pigmentation, Variation in, 8

Sources for Skin/hair/eye Pigmentation, Variation in, 8

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
Content
Loading form....