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

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Aliases & Classifications for Appendix Disease

MalaCards integrated aliases for Appendix Disease:

Name: Appendix Disease ¹² ¹⁵

Disorder of Appendix ¹⁷

Classifications:

MalaCards categories:
Anatomical: Gastrointestinal diseases

See all MalaCards categories (disease lists)

ICD10: ³²

Diseases of the digestive system

Diseases of appendix

Other diseases of appendix

Disease of appendix, unspecified

Other specified diseases of appendix

External Ids:

Disease Ontology ¹² DOID:60000

ICD10 ³² K35-K38 K38.8 K38.9

EFO ¹⁷ EFO_0009542

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Summaries for Appendix Disease

Disease Ontology : ¹² A gastrointestinal system disease that is located in the appendix.

MalaCards based summary : Appendix Disease, also known as disorder of appendix, is related to ovary neuroendocrine neoplasm and anal canal paget's disease. An important gene associated with Appendix Disease is KRT7 (Keratin 7), and among its related pathways/superpathways are Pathways in cancer and VEGF Signaling. Affiliated tissues include appendix, and related phenotypes are digestive/alimentary and neoplasm

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Related Diseases for Appendix Disease

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

(show top 50) (show all 396)

#	Related Disease	Score	Top Affiliating Genes
1	ovary neuroendocrine neoplasm	10.4	KRT7 CDX2
2	anal canal paget's disease	10.4	KRT7 CDX2
3	gastric signet ring cell adenocarcinoma	10.4	KRT7 CDX2
4	adenosquamous colon carcinoma	10.4	KRT7 CDX2
5	bartholin's gland disease	10.4	KRT7 CDX2
6	leukoplakia of penis	10.4	KRT7 CEACAM5
7	bartholin's gland carcinoma	10.4	KRT7 CDX2
8	bladder benign neoplasm	10.4	KRT7 KRT20
9	rectum neuroendocrine neoplasm	10.4	KRT7 CDX2
10	malignant acrospiroma	10.4	KRT7 CEACAM5
11	laryngeal mucoepidermoid carcinoma	10.4	CEACAM5 CDX2
12	cutaneous mucoepidermoid carcinoma	10.4	KRT7 CEACAM5
13	external ear carcinoma	10.4	KRT7 CEACAM5
14	vulval paget's disease	10.4	KRT7 CEACAM5
15	eccrine adenocarcinoma	10.4	KRT7 CEACAM5
16	renal pelvis adenocarcinoma	10.4	KRT7 CEACAM5
17	papillary squamous carcinoma	10.4	KRT7 CEACAM5
18	adenoid basal cell carcinoma	10.4	KRT7 CEACAM5
19	nephrogenic adenoma of urinary bladder	10.4	KRT7 KRT20
20	atrophic vulva	10.4	KRT7 KRT20
21	pancreatic cystadenocarcinoma	10.4	KRAS CEACAM5
22	ethmoid sinus cancer	10.4	HRAS CDX2
23	pericardium cancer	10.4	KRT7 CEACAM5
24	urinary bladder small cell neuroendocrine carcinoma	10.4	KRT7 KRT20
25	eyelid carcinoma	10.4	KRT7 KRT20
26	clear cell hidradenoma	10.4	KRT7 CEACAM5
27	hidrocystoma	10.4	KRT7 CEACAM5
28	liver sarcoma	10.4	KRT7 CEACAM5
29	ovarian large-cell neuroendocrine carcinoma	10.4	KRT7 KRT20
30	supine hypotensive syndrome	10.3	KRT7 KRT20
31	mucinous stomach adenocarcinoma	10.3	KRT7 CDX2
32	cervical mucinous adenocarcinoma	10.3	MUC6 KRT7
33	meibomian cyst	10.3	KRT7 KRT20
34	hepatic flexure cancer	10.3	KRAS HRAS
35	acute orbital inflammation	10.3	KRT7 KRT20
36	eccrine papillary adenocarcinoma	10.3	KRT7 CEACAM5
37	eccrine acrospiroma	10.3	KRT7 CEACAM5
38	trachea carcinoma in situ	10.3	KRAS HRAS
39	cobblestone retinal degeneration	10.3	KRAS HRAS
40	bile acid synthesis defect, congenital, 5	10.3	KRAS CEACAM5
41	eccrine sweat gland neoplasm	10.3	KRT7 CEACAM5
42	endobronchial lipoma	10.3	MUC5AC KRT7
43	nephrogenic adenoma of the urethra	10.3	KRT7 KRT20
44	sarcomatous intrahepatic cholangiocarcinoma	10.3	KRT7 CEACAM5
45	ampulla of vater benign neoplasm	10.3	KRAS HRAS
46	cutaneous adenocystic carcinoma	10.3	KRT7 CEACAM5
47	anal gland adenocarcinoma	10.3	MUC5AC KRT7 CDX2
48	anus adenocarcinoma	10.3	MUC5AC KRT7 CDX2
49	periampullary adenoma	10.3	KRAS HRAS
50	acneiform dermatitis	10.3	KRAS HRAS

Graphical network of the top 20 diseases related to Appendix Disease:

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Symptoms & Phenotypes for Appendix Disease

MGI Mouse Phenotypes related to Appendix Disease:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	digestive/alimentary	MP:0005381	9.5	CDX2 HRAS KRAS MUC5AC SATB2 SMAD4
2	neoplasm	MP:0002006	9.1	CDX2 GNAS HRAS KRAS SMAD4 TP53

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Drugs & Therapeutics for Appendix Disease

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	US Follow-up After Appendicitis Attack.	Unknown status	NCT01795560
2	Evaluation of a Spirituality Informed E-mental Health Intervention (LEAP Project) for Major Depressive Disorder in Adolescents and Young Adults - A Randomized Controlled Pilot Trial	Completed	NCT00985686

Search NIH Clinical Center for Appendix Disease

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Genetic Tests for Appendix Disease

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Anatomical Context for Appendix Disease

The Foundational Model of Anatomy Ontology organs/tissues related to Appendix Disease:

¹⁹

Appendix

MalaCards organs/tissues related to Appendix Disease:

⁴⁰

Appendix

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Publications for Appendix Disease

Articles related to Appendix Disease:

#	Title	Authors	PMID	Year
1	Post-transplant Lymphoproliferative Disorder of Appendix Mimicking Acute Appendicitis: A Case Report. ⁶¹	Meena P...Bhargava V	31371216	2019
2	Decreased Toll-like receptor-2 messenger ribonucleic acid and increased Toll-like receptor-4 in the tubal epithelium next to the infiltrated trophoblasts during tubal pregnancy. ⁶¹	Ji YF...Chen LY	27793374	2017
3	Transumbilical single-incision laparoscopic combined cholecystectomy and appendectomy: a retrospective comparative study. ⁶¹	Chen Y...Kong J	25244670	2014
4	Locally elevated leukemia inhibitory factor in the inflamed fallopian tube resembles that found in tubal pregnancy. ⁶¹	Ji YF...Shi YF	18468598	2009
5	INTESTINAL CRISES SIMULATING CHRONIC APPENDIX DISEASE DIAGNOSED BY ROENTGEN RAY FINDINGS. ⁶¹	Burnham MP...Crow LB	18737404	1917

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Genes for Appendix Disease

Genes related to Appendix Disease (0 elite genes):

(show all 16)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	KRT7	Keratin 7	Protein Coding	7.4	DISEASES inferred ¹⁵
2	CDX2	Caudal Type Homeobox 2	Protein Coding	7.27	DISEASES inferred ¹⁵
3	MUC5AC	Mucin 5AC, Oligomeric Mucus/Gel-Forming	Protein Coding	7.11	DISEASES inferred ¹⁵
4	GNAS	GNAS Complex Locus	Protein Coding	7.05	DISEASES inferred ¹⁵
5	CEACAM5	CEA Cell Adhesion Molecule 5	Protein Coding	6.84	DISEASES inferred ¹⁵
6	KRAS	KRAS Proto-Oncogene, GTPase	Protein Coding	6.65	DISEASES inferred ¹⁵
7	KRT20	Keratin 20	Protein Coding	6.57	DISEASES inferred ¹⁵
8	HRAS	HRas Proto-Oncogene, GTPase	Protein Coding	6.49	DISEASES inferred ¹⁵
9	MUC6	Mucin 6, Oligomeric Mucus/Gel-Forming	Protein Coding	6.24	DISEASES inferred ¹⁵
10	SATB2	SATB Homeobox 2	Protein Coding	6.15	DISEASES inferred ¹⁵
11	REG4	Regenerating Family Member 4	Protein Coding	5.82	DISEASES inferred ¹⁵
12	PRSS36	Serine Protease 36	Protein Coding	5.67	DISEASES inferred ¹⁵
13	TP53	Tumor Protein P53	Protein Coding	5.66	DISEASES inferred ¹⁵
14	MUC1	Mucin 1, Cell Surface Associated	Protein Coding	5.6	DISEASES inferred ¹⁵
15	SMAD4	SMAD Family Member 4	Protein Coding	5.58	DISEASES inferred ¹⁵
16	MUC5B	Mucin 5B, Oligomeric Mucus/Gel-Forming	Protein Coding	5.46	DISEASES inferred ¹⁵

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Variations for Appendix Disease

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Expression for Appendix Disease

Search GEO for disease gene expression data for Appendix Disease.

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Pathways for Appendix Disease

Pathways related to Appendix Disease according to GeneCards Suite gene sharing:

(show all 24)

#	Super pathways	Score	Top Affiliating Genes
1	Pathways in cancer ³⁶	12.67	TP53 SMAD4 KRAS HRAS GNAS
2	VEGF Signaling ⁶⁶ Show member pathways EGFR Signaling Pathway ⁶⁶ TGF-beta Signaling Pathway ⁶⁶ VEGF Signaling Pathway ⁶⁰	12.18	TP53 SMAD4 MUC1 KRAS HRAS
3	Human T-cell leukemia virus 1 infection ³⁶	12.14	TP53 SMAD4 KRAS HRAS
4	Gastric cancer ³⁶ Show member pathways Breast cancer ³⁶ Hepatocellular carcinoma ³⁶	12.1	TP53 SMAD4 REG4 KRAS HRAS CDX2
5	O-linked glycosylation ⁶⁵ Show member pathways O-linked glycosylation of mucins ⁶⁵	12.02	MUC6 MUC5B MUC5AC MUC1
6	Colorectal Cancer Metastasis ⁶³	11.95	TP53 SMAD4 KRAS GNAS
7	Thyroid hormone signaling pathway ³⁶	11.88	TP53 KRAS HRAS
8	Diseases of glycosylation ⁶⁵ Show member pathways Diseases associated with O-glycosylation of proteins ⁶⁵	11.87	MUC6 MUC5B MUC5AC MUC1
9	Sphingolipid signaling pathway ³⁶	11.86	TP53 KRAS HRAS
10	Serotonergic synapse ³⁶	11.84	KRAS HRAS GNAS
11	Glioblastoma Multiforme ⁶³	11.82	TP53 KRAS HRAS
12	Long-term potentiation ³⁶ Show member pathways Common Pathways Underlying Drug Addiction ¹	11.8	KRAS HRAS GNAS
13	Senescence and Autophagy in Cancer ¹	11.79	TP53 SMAD4 HRAS
14	AGE-RAGE signaling pathway in diabetic complications ³⁶	11.75	SMAD4 KRAS HRAS
15	Gap junction ³⁶	11.68	KRAS HRAS GNAS
16	DNA Damage Response (only ATM dependent) ¹	11.62	TP53 SMAD4 KRAS HRAS
17	Bladder cancer ³⁶ ¹	11.58	TP53 KRAS HRAS
18	Central carbon metabolism in cancer ³⁶	11.55	TP53 KRAS HRAS
19	Mitophagy - animal ³⁶	11.52	TP53 KRAS HRAS
20	CLEC7A (Dectin-1) signaling ⁶⁵ Show member pathways Alternative NF-kappaB pathway ¹ CLEC7A/inflammasome pathway ⁶⁵ C-type lectin receptors (CLRs) ⁶⁵	11.51	MUC6 MUC5B MUC5AC MUC1 KRAS HRAS
21	Defective C1GALT1C1 causes Tn polyagglutination syndrome (TNPS) ⁶⁵ Show member pathways Dectin-2 family ⁶⁵ Defective GALNT12 causes colorectal cancer 1 (CRCS1) ⁶⁵ Defective GALNT3 causes familial hyperphosphatemic tumoral calcinosis (HFTC) ⁶⁵ Termination of O-glycan biosynthesis ⁶⁵	11.49	MUC6 MUC5B MUC5AC MUC1
22	Long-term depression ³⁶	11.43	KRAS HRAS GNAS
23	Extracellular vesicle-mediated signaling in recipient cells ¹	11.02	SMAD4 KRAS HRAS
24	p38MAPK events ⁶⁵	10.68	KRAS HRAS

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GO Terms for Appendix Disease

Cellular components related to Appendix Disease according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	extracellular region	GO:0005576	9.56	REG4 PRSS36 MUC6 MUC5B MUC5AC MUC1
2	Golgi lumen	GO:0005796	8.92	MUC6 MUC5B MUC5AC MUC1

Biological processes related to Appendix Disease according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	Ras protein signal transduction	GO:0007265	9.5	TP53 KRAS HRAS
2	DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator	GO:0006978	9.37	TP53 MUC1
3	response to isolation stress	GO:0035900	9.26	KRAS HRAS
4	O-glycan processing	GO:0016266	9.26	MUC6 MUC5B MUC5AC MUC1
5	positive regulation of transcription from RNA polymerase II promoter in response to stress	GO:0036003	9.16	TP53 MUC1
6	stimulatory C-type lectin receptor signaling pathway	GO:0002223	9.1	MUC6 MUC5B MUC5AC MUC1 KRAS HRAS

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Sources for Appendix Disease

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 FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Apr-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia