MCID: SPN047
MIFTS: 19

Spindle Cell Intraocular Melanoma

Categories: Cancer 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 50 C7986
UMLS 70 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 extrahepatic bile duct adenoma. 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. Related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

Related Diseases for Spindle Cell Intraocular Melanoma

Diseases related to Spindle Cell Intraocular Melanoma via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 49)
# Related Disease Score Top Affiliating Genes
1 iris spindle cell melanoma 11.3
2 extrahepatic bile duct adenoma 9.9 PMS2 MLH1
3 adenosquamous colon carcinoma 9.9 PMS2 MLH1
4 rectum signet ring adenocarcinoma 9.9 PMS2 MLH1
5 appendix carcinoid tumor 9.9 PMS2 MLH1
6 transverse colon cancer 9.9 PMS2 MLH1
7 jejunal cancer 9.9 PMS2 MLH1
8 jejunal adenocarcinoma 9.9 PMS2 MLH1
9 mismatch repair cancer syndrome 9.9 PMS2 MLH1
10 colorectal cancer, hereditary nonpolyposis, type 4 9.9 PMS2 MLH1
11 colorectal cancer, hereditary nonpolyposis, type 6 9.9 PMS2 MLH1
12 colorectal cancer, hereditary nonpolyposis, type 5 9.9 PMS2 MLH1
13 sebaceous gland neoplasm 9.9 PMS2 MLH1
14 sebaceous adenoma 9.9 PMS2 MLH1
15 small intestine adenocarcinoma 9.9 PMS2 MLH1
16 duodenum adenocarcinoma 9.9 PMS2 MLH1
17 dysplastic nevus syndrome 9.9 PMS2 MLH1
18 melanoma, cutaneous malignant 1 9.9 MLH1 GNAQ
19 female reproductive endometrioid cancer 9.8 PMS2 MLH1
20 duodenum cancer 9.8 PMS2 MLH1
21 duodenum disease 9.8 PMS2 MLH1
22 mismatch repair cancer syndrome 1 9.8 PMS2 MLH1
23 sebaceous adenocarcinoma 9.8 PMS2 MLH1
24 hereditary nonpolyposis colon cancer 9.8 PMS2 MLH1
25 hereditary mixed polyposis syndrome 9.8 PMS2 MLH1
26 rectum adenocarcinoma 9.8 PMS2 MLH1
27 muir-torre syndrome 9.8 PMS2 MLH1
28 uterine corpus cancer 9.8 PMS2 MLH1
29 colonic benign neoplasm 9.8 PMS2 MLH1
30 juvenile polyposis syndrome 9.8 PMS2 MLH1
31 small intestine cancer 9.8 PMS2 MLH1
32 lynch syndrome i 9.8 PMS2 MLH1
33 lynch syndrome 9.8 PMS2 MLH1
34 gastric cancer, hereditary diffuse 9.8 PMS2 MLH1
35 intestinal benign neoplasm 9.8 PMS2 MLH1
36 colorectal adenocarcinoma 9.8 PMS2 MLH1
37 cowden syndrome 1 9.8 PMS2 MLH1
38 cowden syndrome 9.8 PMS2 MLH1
39 neurofibromatosis 9.8 PMS2 MLH1
40 neurofibromatosis, type i 9.8 PMS2 MLH1
41 li-fraumeni syndrome 9.7 PMS2 MLH1
42 anaplastic astrocytoma 9.7 PMS2 MLH1
43 oligodendroglioma 9.7 PMS2 MLH1
44 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 9.7 PMS2 MLH1
45 autosomal genetic disease 9.6 PMS2 MLH1
46 hereditary breast ovarian cancer syndrome 9.6 PMS2 MLH1
47 skin melanoma 9.5 PMS2 MLH1 GNAQ
48 skin carcinoma 9.5 PMS2 MLH1 GNAQ
49 colon adenocarcinoma 9.5 PMS2 MLH1

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:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-104 9.28 MLH1
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-105 9.28 GNAQ
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-130 9.28 MLH1
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-138 9.28 MLH1
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.28 MLH1
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-212 9.28 GNAQ
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 9.28 GNAQ
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-74 9.28 MLH1
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-88 9.28 MLH1

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

Publications for Spindle Cell Intraocular Melanoma

Articles related to Spindle Cell Intraocular Melanoma:

# Title Authors PMID Year
1
Ovarian metastasis from uveal melanoma with MLH1/PMS2 protein loss in a patient with germline MLH1 mutated Lynch syndrome: consequence or coincidence? 61
27915441 2017

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 PMS2 MLH1
2
Show member pathways
11.13 PMS2 MLH1
3 10.92 PMS2 MLH1
4 10.09 PMS2 MLH1

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 PMS2 MLH1
2 MutLalpha complex GO:0032389 8.62 PMS2 MLH1

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

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

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 PMS2 MLH1
2 single-stranded DNA binding GO:0003697 9.16 PMS2 MLH1
3 mismatched DNA binding GO:0030983 8.96 PMS2 MLH1
4 MutSalpha complex binding GO:0032407 8.62 PMS2 MLH1

Sources for Spindle Cell Intraocular Melanoma

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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