MCID: SKN070
MIFTS: 12

Skin/hair/eye Pigmentation, Variation in, 8

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 57 29 13 6
Skin/hair/eye Pigmentation 8, Blue/light Eye Color 57
Pigmentation, Skin/hair/eye, Variation in, Type 8 40
Skin/hair/eye Pigmentation 8, Freckling/sunburn 57
Skin/hair/eye Pigmentation 8, Brown Hair 57
Skin/hair/eye Pigmentation 8, Fair Skin 57
Shep8 57

Classifications:



External Ids:

OMIM 57 611724
MedGen 42 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 29 IRF4

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

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

41
Skin, Eye

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

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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