MCID: SPN047
MIFTS: 23

Spindle Cell Intraocular Melanoma

Categories: Cancer diseases, Eye diseases, Neuronal diseases, Skin diseases

Aliases & Classifications for Spindle Cell Intraocular Melanoma

MalaCards integrated aliases for Spindle Cell Intraocular Melanoma:

Name: Spindle Cell Intraocular Melanoma 12 15
Uveal Spindle Cell Melanoma 12

Classifications:



External Ids:

Disease Ontology 12 DOID:6037
NCIt 51 C7986
UMLS 74 C0279687

Summaries for Spindle Cell Intraocular Melanoma

Disease Ontology : 12 An ocular malanoma that derives from melanocytes in the uveal tract that results in_formation_of spindle-shaped cells.

MalaCards based summary : Spindle Cell Intraocular Melanoma, also known as uveal spindle cell melanoma, is related to iris spindle cell melanoma and appendix carcinoid tumor. An important gene associated with Spindle Cell Intraocular Melanoma is GNAQ (G Protein Subunit Alpha Q), and among its related pathways/superpathways are Direct p53 effectors and Mismatch repair. Affiliated tissues include colon, eye and skin, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Related Diseases for Spindle Cell Intraocular Melanoma

Graphical network of the top 20 diseases related to Spindle Cell Intraocular Melanoma:



Diseases related to Spindle Cell Intraocular Melanoma

Symptoms & Phenotypes for Spindle Cell Intraocular Melanoma

GenomeRNAi Phenotypes related to Spindle Cell Intraocular Melanoma according to GeneCards Suite gene sharing:

27 (show all 21)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.84 GNAQ PMS2
2 Increased shRNA abundance (Z-score > 2) GR00366-A-121 9.84 GNAQ
3 Increased shRNA abundance (Z-score > 2) GR00366-A-122 9.84 GNAQ
4 Increased shRNA abundance (Z-score > 2) GR00366-A-123 9.84 GNAQ
5 Increased shRNA abundance (Z-score > 2) GR00366-A-124 9.84 MLH1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-125 9.84 GNAQ
7 Increased shRNA abundance (Z-score > 2) GR00366-A-128 9.84 GNAQ
8 Increased shRNA abundance (Z-score > 2) GR00366-A-130 9.84 MLH1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-138 9.84 MLH1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.84 GNAQ PMS2
11 Increased shRNA abundance (Z-score > 2) GR00366-A-19 9.84 PMS2
12 Increased shRNA abundance (Z-score > 2) GR00366-A-195 9.84 MLH1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-197 9.84 PMS2
14 Increased shRNA abundance (Z-score > 2) GR00366-A-207 9.84 PMS2
15 Increased shRNA abundance (Z-score > 2) GR00366-A-3 9.84 GNAQ
16 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.84 PMS2
17 Increased shRNA abundance (Z-score > 2) GR00366-A-56 9.84 PMS2
18 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.84 PMS2
19 Increased shRNA abundance (Z-score > 2) GR00366-A-74 9.84 MLH1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-78 9.84 MLH1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-88 9.84 GNAQ MLH1

MGI Mouse Phenotypes related to Spindle Cell Intraocular Melanoma:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 8.8 GNAQ MLH1 PMS2

Drugs & Therapeutics for Spindle Cell Intraocular Melanoma

Search Clinical Trials , NIH Clinical Center for Spindle Cell Intraocular Melanoma

Genetic Tests for Spindle Cell Intraocular Melanoma

Anatomical Context for Spindle Cell Intraocular Melanoma

MalaCards organs/tissues related to Spindle Cell Intraocular Melanoma:

42
Colon, Eye, Skin, Small Intestine, Appendix

Publications for Spindle Cell Intraocular Melanoma

Variations for Spindle Cell Intraocular Melanoma

Expression for Spindle Cell Intraocular Melanoma

Search GEO for disease gene expression data for Spindle Cell Intraocular Melanoma.

Pathways for Spindle Cell Intraocular Melanoma

Pathways related to Spindle Cell Intraocular Melanoma according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.38 MLH1 PMS2
2
Show member pathways
11.15 MLH1 PMS2
3 10.93 MLH1 PMS2
4 10.09 MLH1 PMS2

GO Terms for Spindle Cell Intraocular Melanoma

Cellular components related to Spindle Cell Intraocular Melanoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mismatch repair complex GO:0032300 8.96 MLH1 PMS2
2 MutLalpha complex GO:0032389 8.62 MLH1 PMS2

Biological processes related to Spindle Cell Intraocular Melanoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA repair GO:0006281 9.16 MLH1 PMS2
2 mismatch repair GO:0006298 8.96 MLH1 PMS2
3 somatic hypermutation of immunoglobulin genes GO:0016446 8.62 MLH1 PMS2

Molecular functions related to Spindle Cell Intraocular Melanoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ATPase activity GO:0016887 9.26 MLH1 PMS2
2 single-stranded DNA binding GO:0003697 9.16 MLH1 PMS2
3 mismatched DNA binding GO:0030983 8.96 MLH1 PMS2
4 MutSalpha complex binding GO:0032407 8.62 MLH1 PMS2

Sources for Spindle Cell Intraocular Melanoma

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
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