Appendix Carcinoid Tumor disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

Sources

Aliases & Classifications for Appendix Carcinoid Tumor

MalaCards integrated aliases for Appendix Carcinoid Tumor:

Name: Appendix Carcinoid Tumor ¹² ¹⁵

Appendix Carcinoid Endocrine Tumour ¹²

Carcinoid Tumor of Appendix ⁷⁴

Classifications:

MalaCards categories:
Global: Cancer diseases
Anatomical: Gastrointestinal diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0050911

UMLS ⁷⁴ C0334298

Sources

Summaries for Appendix Carcinoid Tumor

Disease Ontology : ¹² An appendix cancer that has material basis in neurodendocrine cells.

MalaCards based summary : Appendix Carcinoid Tumor, also known as appendix carcinoid endocrine tumour, is related to lynch syndrome and colorectal cancer. An important gene associated with Appendix Carcinoid Tumor is PMS2 (PMS1 Homolog 2, Mismatch Repair System Component), and among its related pathways/superpathways are DNA Double-Strand Break Repair and Regulation of TP53 Activity. Affiliated tissues include appendix, colon and brain, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

Sources

Related Diseases for Appendix Carcinoid Tumor

Diseases related to Appendix Carcinoid Tumor via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 49)

#	Related Disease	Score	Top Affiliating Genes
1	lynch syndrome	28.9	MLH1 MSH2 MSH6 PMS2
2	colorectal cancer	28.8	MLH1 MSH2 MSH6 PMS2
3	carcinoid syndrome	10.3
4	spindle cell intraocular melanoma	10.1	MLH1 PMS2
5	colorectal cancer 5	10.0	MLH1 MSH6
6	gastric leiomyoma	10.0	MLH1 MSH6
7	adenoma	9.9	MLH1 MSH2
8	neurofibromatosis, type iv, of riccardi	9.9	MSH6 PMS2
9	colorectal cancer, hereditary nonpolyposis, type 7	9.9	MLH1 MSH2
10	lower lip cancer	9.9	MLH1 MSH2
11	hereditary breast ovarian cancer syndrome	9.9	MLH1 MSH6
12	anal fistula	9.9	MLH1 MSH2
13	melanocytic nevus syndrome, congenital	9.8	MLH1 MSH2
14	childhood kidney cell carcinoma	9.8	MLH1 MSH2
15	intestinal benign neoplasm	9.8	MLH1 MSH2
16	keratoacanthoma	9.8	MLH1 MSH2
17	attenuated familial adenomatous polyposis	9.8	MSH2 MSH6
18	familial colorectal cancer	9.8	MLH1 MSH2
19	colorectal adenoma	9.8	MLH1 MSH2
20	legius syndrome	9.8	MSH2 MSH6
21	colon adenocarcinoma	9.7	MLH1 MSH6
22	gastrointestinal system disease	9.7	MLH1 MSH2
23	ulcerative colitis	9.7	MLH1 MSH2
24	colorectal cancer, hereditary nonpolyposis, type 4	9.6	MLH1 MSH2 PMS2
25	cecum adenocarcinoma	9.5	MLH1 MSH2 MSH6
26	skin benign neoplasm	9.5	MLH1 MSH2 MSH6
27	colorectal cancer, hereditary nonpolyposis, type 5	9.5	MLH1 MSH2 MSH6
28	colorectal adenocarcinoma	9.5	MLH1 MSH2 MSH6
29	female reproductive system disease	9.5	MLH1 MSH2 MSH6
30	familial adenomatous polyposis	9.5	MLH1 MSH2 MSH6
31	adamantinoma of long bones	9.5	MLH1 MSH2
32	rhabdomyosarcoma	9.5	MSH2 MSH6 PMS2
33	brain cancer	9.5	MSH2 MSH6 PMS2
34	ovarian cancer	9.4	MLH1 MSH2 MSH6
35	adenosquamous colon carcinoma	9.3	MLH1 MSH2 MSH6 PMS2
36	sebaceous adenoma	9.3	MLH1 MSH2 MSH6 PMS2
37	lynch syndrome i	9.3	MLH1 MSH2 MSH6 PMS2
38	sebaceous adenocarcinoma	9.3	MLH1 MSH2 MSH6 PMS2
39	muir-torre syndrome	9.3	MLH1 MSH2 MSH6 PMS2
40	small intestine cancer	9.3	MLH1 MSH2 MSH6 PMS2
41	mismatch repair cancer syndrome	9.3	MLH1 MSH2 MSH6 PMS2
42	uterine anomalies	9.3	MLH1 MSH2 MSH6 PMS2
43	colonic disease	9.3	MLH1 MSH2 MSH6 PMS2
44	autosomal genetic disease	9.3	MLH1 MSH2 MSH6 PMS2
45	intestinal disease	9.3	MLH1 MSH2 MSH6 PMS2
46	gastrointestinal system cancer	9.2	MLH1 MSH2 MSH6 PMS2
47	autosomal dominant disease	9.2	MLH1 MSH2 MSH6 PMS2
48	large intestine cancer	9.2	MLH1 MSH2 MSH6 PMS2
49	endometrial cancer	9.2	MLH1 MSH2 MSH6 PMS2

Graphical network of the top 20 diseases related to Appendix Carcinoid Tumor:

Sources

Symptoms & Phenotypes for Appendix Carcinoid Tumor

GenomeRNAi Phenotypes related to Appendix Carcinoid Tumor according to GeneCards Suite gene sharing:

²⁷

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased shRNA abundance (Z-score < -2)	GR00366-A-104	9.81	PMS2
2	Decreased shRNA abundance (Z-score < -2)	GR00366-A-14	9.81	MSH2 PMS2
3	Decreased shRNA abundance (Z-score < -2)	GR00366-A-148	9.81	PMS2
4	Decreased shRNA abundance (Z-score < -2)	GR00366-A-153	9.81	PMS2
5	Decreased shRNA abundance (Z-score < -2)	GR00366-A-28	9.81	PMS2
6	Decreased shRNA abundance (Z-score < -2)	GR00366-A-53	9.81	MSH2
7	Decreased shRNA abundance (Z-score < -2)	GR00366-A-59	9.81	PMS2
8	Decreased shRNA abundance (Z-score < -2)	GR00366-A-98	9.81	PMS2
9	Increased viability with MLN4924 (a NAE inhibitor)	GR00250-A-3	9.26	MLH1 MSH2 MSH6 PMS2
10	Synthetic lethal with vaccinia virus (VACV) infection	GR00362-A	8.8	MLH1 MSH6 PMS2

MGI Mouse Phenotypes related to Appendix Carcinoid Tumor:

⁴⁷

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	hematopoietic system	MP:0005397	9.46	MLH1 MSH2 MSH6 PMS2
2	immune system	MP:0005387	9.26	MLH1 MSH2 MSH6 PMS2
3	neoplasm	MP:0002006	8.92	MLH1 MSH2 MSH6 PMS2

Sources

Drugs & Therapeutics for Appendix Carcinoid Tumor

Search Clinical Trials , NIH Clinical Center for Appendix Carcinoid Tumor

Sources

Genetic Tests for Appendix Carcinoid Tumor

Sources

Anatomical Context for Appendix Carcinoid Tumor

MalaCards organs/tissues related to Appendix Carcinoid Tumor:

⁴²

Appendix, Colon, Brain, Kidney, Bone, Breast, Small Intestine

Sources

Publications for Appendix Carcinoid Tumor

Articles related to Appendix Carcinoid Tumor:

#	Title	Authors	Year
1	Co-existence of idiopathic cecal ulcer and incidental appendix carcinoid tumor. ( 28149127 )	?nce V...Karaka? S	2016
2	An appendix carcinoid tumor in a patient with hereditary nonpolyposis colorectal cancer. ( 15619218 )	Miquel C...Praz F	2004

Sources

Genes for Appendix Carcinoid Tumor

Genes related to Appendix Carcinoid Tumor (0 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	PMS2	PMS1 Homolog 2, Mismatch Repair System Component	Protein Coding	14.96	DISEASES inferred ¹⁵
2	MSH6	MutS Homolog 6	Protein Coding	14.75	DISEASES inferred ¹⁵
3	MSH2	MutS Homolog 2	Protein Coding	14.42	DISEASES inferred ¹⁵
4	MLH1	MutL Homolog 1	Protein Coding	14.28	DISEASES inferred ¹⁵

Sources

Variations for Appendix Carcinoid Tumor

Sources

Expression for Appendix Carcinoid Tumor

Search GEO for disease gene expression data for Appendix Carcinoid Tumor.

Sources

Pathways for Appendix Carcinoid Tumor

Pathways related to Appendix Carcinoid Tumor according to GeneCards Suite gene sharing:

(show all 18)

#	Super pathways	Score	Top Affiliating Genes
1	DNA Double-Strand Break Repair ⁶⁷ Show member pathways Chk1/Chk2(Cds1) mediated inactivation of Cyclin B-Cdk1 complex ⁶⁷ DNA damage_DNA-damage-induced responses ²³ DNA Repair ⁶⁷ G2/M DNA damage checkpoint ⁶⁷ HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA) ⁶⁷ HDR through MMEJ (alt-NHEJ) ⁶⁷ Homology Directed Repair ⁶⁷ Non-homologous end joining ¹ Non-homologous end-joining ³⁸ Processing of DNA double-strand break ends ⁶⁷	12.71	MLH1 MSH2 MSH6 PMS2
2	Regulation of TP53 Activity ⁶⁷ Show member pathways Regulation of TP53 Activity through Association with Co-factors ⁶⁷ Regulation of TP53 Activity through Methylation ⁶⁷ Regulation of TP53 Activity through Phosphorylation ⁶⁷ Transcriptional Regulation by TP53 ⁶⁷	12.55	MLH1 MSH2 PMS2
3	TCR Signaling (Qiagen) ⁶⁵ Show member pathways Fc-EpsilonRI Pathway ⁶⁵ ITK and TCR Signaling ⁶⁵ PKC-Theta Pathway ⁶⁵ TCR Signaling ⁶⁵	12.49	MLH1 MSH2 MSH6
4	Endometrial cancer ³⁸ Show member pathways Acute myeloid leukemia ³⁸ Binding of TCF/LEF-CTNNB1 to target gene promoters ⁶⁷ Chronic myeloid leukemia ³⁸ Colorectal cancer ³⁸ Pancreatic cancer ³⁸ Prostate cancer ³⁸ Signal transduction PTEN pathway ²³ Thyroid cancer ³⁸	12.45	MLH1 MSH2 MSH6
5	Pathways in cancer ³⁸	12.41	MLH1 MSH2 MSH6
6	DNA Damage ⁴	12.08	MLH1 MSH2 MSH6
7	Integrated Breast Cancer Pathway ¹	11.76	MSH2 MSH6
8	Colorectal Cancer Metastasis ⁶⁵	11.72	MLH1 MSH2 MSH6
9	Direct p53 effectors ¹	11.55	MLH1 MSH2 PMS2
10	Fanconi anemia pathway ³⁸ ⁶⁷	11.54	MLH1 PMS2
11	BRCA1 Pathway ⁶⁵ Show member pathways Fanconi's Anaemia Pathway ⁶⁵	11.47	MSH2 MSH6
12	Mismatch repair ¹ ⁶⁷ ³⁸ Show member pathways Mismatch repair (MMR) directed by MSH2-MSH3 (MutSbeta) ⁶⁷ Mismatch repair (MMR) directed by MSH2-MSH6 (MutSalpha) ⁶⁷ Mismatch Repair in Eukaryotes ⁶⁵	11.25	MLH1 MSH2 MSH6 PMS2
13	Platinum drug resistance ³⁸	11.2	MLH1 MSH2 MSH6
14	Integrated Cancer Pathway ¹	11.16	MSH2 MSH6
15	DNA damage_Role of Brca1 and Brca2 in DNA repair ²³	11.15	MLH1 MSH2 MSH6
16	Busulfan Pathway, Pharmacodynamics ⁶² Show member pathways Catalytic cycle of mammalian Flavin-containing MonoOxygenases (FMOs) ¹ FMO oxidises nucleophiles ⁶⁷	11.12	MLH1 MSH2
17	Doxorubicin Pathway, Pharmacokinetics ⁶² Show member pathways Doxorubicin Pathway (Cancer Cell), Pharmacodynamics ⁶²	11.06	MLH1 MSH2
18	Platinum Pathway, Pharmacokinetics/Pharmacodynamics ⁶²	10.39	MLH1 MSH2 MSH6 PMS2

Sources

GO Terms for Appendix Carcinoid Tumor

Cellular components related to Appendix Carcinoid Tumor according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	nucleoplasm	GO:0005654	9.56	MLH1 MSH2 MSH6 PMS2
2	MutLalpha complex	GO:0032389	9.16	MLH1 PMS2
3	MutSalpha complex	GO:0032301	8.96	MSH2 MSH6
4	mismatch repair complex	GO:0032300	8.92	MLH1 MSH2 MSH6 PMS2

Biological processes related to Appendix Carcinoid Tumor according to GeneCards Suite gene sharing:

(show all 18)

#	Name	GO ID	Score	Top Affiliating Genes
1	cellular response to DNA damage stimulus	GO:0006974	9.73	MLH1 MSH2 MSH6 PMS2
2	DNA repair	GO:0006281	9.71	MLH1 MSH2 MSH6 PMS2
3	negative regulation of DNA recombination	GO:0045910	9.57	MSH2 MSH6
4	determination of adult lifespan	GO:0008340	9.56	MSH2 MSH6
5	positive regulation of isotype switching to IgG isotypes	GO:0048304	9.55	MLH1 MSH2
6	positive regulation of helicase activity	GO:0051096	9.54	MSH2 MSH6
7	intrinsic apoptotic signaling pathway in response to DNA damage	GO:0008630	9.5	MLH1 MSH2 MSH6
8	maintenance of DNA repeat elements	GO:0043570	9.49	MSH2 MSH6
9	positive regulation of isotype switching to IgA isotypes	GO:0048298	9.48	MLH1 MSH2
10	isotype switching	GO:0045190	9.43	MLH1 MSH2 MSH6
11	somatic recombination of immunoglobulin genes involved in immune response	GO:0002204	9.37	MLH1 MSH2
12	somatic recombination of immunoglobulin gene segments	GO:0016447	9.33	MLH1 MSH2 MSH6
13	interstrand cross-link repair	GO:0036297	9.27	MSH6
14	mismatch repair	GO:0006298	9.26	MLH1 MSH2 MSH6 PMS2
15	pyrimidine dimer repair	GO:0006290	9.22	MSH6
16	replication fork arrest	GO:0043111	9.21	MSH6
17	meiotic mismatch repair	GO:0000710	9.16	MSH6
18	somatic hypermutation of immunoglobulin genes	GO:0016446	8.92	MLH1 MSH2 MSH6 PMS2

Molecular functions related to Appendix Carcinoid Tumor according to GeneCards Suite gene sharing:

(show all 17)

#	Name	GO ID	Score	Top Affiliating Genes
1	ATP binding	GO:0005524	9.8	MLH1 MSH2 MSH6 PMS2
2	chromatin binding	GO:0003682	9.72	MLH1 MSH2 MSH6
3	enzyme binding	GO:0019899	9.69	MLH1 MSH2 MSH6
4	double-stranded DNA binding	GO:0003690	9.57	MSH2 MSH6
5	damaged DNA binding	GO:0003684	9.56	MSH2 MSH6
6	DNA-dependent ATPase activity	GO:0008094	9.54	MSH2 MSH6
7	single-stranded DNA binding	GO:0003697	9.54	MLH1 MSH2 PMS2
8	ADP binding	GO:0043531	9.52	MSH2 MSH6
9	four-way junction DNA binding	GO:0000400	9.48	MSH2 MSH6
10	MutLalpha complex binding	GO:0032405	9.46	MSH2 MSH6
11	ATPase activity	GO:0016887	9.46	MLH1 MSH2 MSH6 PMS2
12	MutSalpha complex binding	GO:0032407	9.43	MLH1 PMS2
13	oxidized purine DNA binding	GO:0032357	9.4	MSH2 MSH6
14	single thymine insertion binding	GO:0032143	9.32	MSH2 MSH6
15	single guanine insertion binding	GO:0032142	9.26	MSH2 MSH6
16	guanine/thymine mispair binding	GO:0032137	9.13	MLH1 MSH2 MSH6
17	mismatched DNA binding	GO:0030983	8.92	MLH1 MSH2 MSH6 PMS2

Sources

Sources for Appendix Carcinoid Tumor

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

⁵⁰ NCI

⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

⁶⁴ PubMed Health

⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia