Cervical Incompetence disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: CRV025 MIFTS: 38	Cervical Incompetence Categories: Reproductive diseases
Genes Tissues Related diseases Publications Pathways Drugs Expand all tables

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Aliases & Classifications for Cervical Incompetence

MalaCards integrated aliases for Cervical Incompetence:

Name: Cervical Incompetence ¹² ¹⁵ ¹⁷

Uterine Cervical Incompetence ⁴⁵ ⁷⁴

Classifications:

MalaCards categories:
Anatomical: Reproductive diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Diseases of the genitourinary system

Noninflammatory disorders of female genital tract

Other noninflammatory disorders of cervix uteri

Incompetence of cervix uteri

External Ids:

Disease Ontology ¹² DOID:9681

ICD9CM ³⁶ 622.5

MeSH ⁴⁵ D002581

NCIt ⁵¹ C50607

SNOMED-CT ⁶⁹ 17382005 36836005

ICD10 ³⁴ N88.3

EFO ¹⁷ EFO_0007202

UMLS ⁷⁴ C0007871

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Summaries for Cervical Incompetence

Disease Ontology : ¹² A cervix disease that is characterized by the beginning of dilation and effacement of a pregnant woman's cervix before her pregnancy has reached term.

MalaCards based summary : Cervical Incompetence, also known as uterine cervical incompetence, is related to ehlers-danlos syndrome and cervix disease. An important gene associated with Cervical Incompetence is IL6 (Interleukin 6), and among its related pathways/superpathways are Collagen chain trimerization and Degradation of the extracellular matrix. The drugs Dinoprostone and Misoprostol have been mentioned in the context of this disorder. Affiliated tissues include cervix, bone and testes, and related phenotypes are growth/size/body region and behavior/neurological

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Related Diseases for Cervical Incompetence

Diseases related to Cervical Incompetence via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 17)

#	Related Disease	Score	Top Affiliating Genes
1	ehlers-danlos syndrome	29.0	ADAMTS2 COL5A2 PLOD1
2	cervix disease	11.3
3	infertility	10.0
4	osteogenesis imperfecta, type viii	9.9	CRTAP P3H1
5	dentinogenesis imperfecta	9.9	CRTAP P3H1
6	osteogenesis imperfecta, type ii	9.9	CRTAP P3H1
7	polycystic ovary syndrome	9.8
8	ectopic pregnancy	9.8
9	appendicitis	9.8
10	hemometra	9.8
11	osteogenesis imperfecta, type iii	9.8	CRTAP P3H1
12	bone development disease	9.8	CRTAP P3H1
13	collagen disease	9.8	COL5A2 IL6 PLOD1
14	umbilical hernia	9.8	ADAMTS2 PLOD1
15	brittle bone disorder	9.7	CRTAP P3H1
16	bruck syndrome	9.7	CRTAP P3H1 PLOD1
17	connective tissue disease	9.2	ADAMTS2 IL6 P3H1 PLOD1

Graphical network of the top 20 diseases related to Cervical Incompetence:

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Symptoms & Phenotypes for Cervical Incompetence

MGI Mouse Phenotypes related to Cervical Incompetence:

⁴⁷

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	growth/size/body region	MP:0005378	9.8	ADAMTS2 COL5A2 CRTAP HOXA2 IL6 P3H1
2	behavior/neurological	MP:0005386	9.77	COL5A2 HOXA2 IL6 P3H1 PLOD1
3	integument	MP:0010771	9.65	ADAMTS2 COL5A2 IL6 P3H1 PLOD1
4	muscle	MP:0005369	9.46	HOXA2 IL6 P3H1 PLOD1
5	respiratory system	MP:0005388	9.26	ADAMTS2 COL5A2 HOXA2 IL6
6	skeleton	MP:0005390	9.17	ADAMTS2 COL5A2 CRTAP HOXA2 IL6 P3H1

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Drugs & Therapeutics for Cervical Incompetence

Drugs for Cervical Incompetence (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 64)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Dinoprostone

Approved

Phase 4

363-24-6

5280360

Misoprostol

Approved

Phase 4,Phase 3

59122-46-2

5282381

Chloroprocaine

Approved

Phase 4

133-16-4

8612

Bupivacaine

Approved, Investigational

Phase 4,Not Applicable

38396-39-3, 2180-92-9

2474

Procaine

Approved, Investigational, Vet_approved

Phase 4

59-46-1

4914

Fentanyl

Approved, Illicit, Investigational, Vet_approved

Phase 4,Not Applicable

437-38-7

3345

Oxytocics

Phase 4,Phase 3

Anti-Ulcer Agents

Phase 4,Phase 3

Gastrointestinal Agents

Phase 4,Phase 3

Antacids

Phase 4,Phase 3

Central Nervous System Depressants

Phase 4,Not Applicable

Anesthetics, Local

Phase 4,Not Applicable

Anesthetics

Phase 4,Not Applicable

Peripheral Nervous System Agents

Phase 4,Not Applicable

Analgesics

Phase 4,Not Applicable

Analgesics, Opioid

Phase 4,Not Applicable

Anesthetics, General

Phase 4,Not Applicable

Narcotics

Phase 4,Not Applicable

Pharmaceutical Solutions

Phase 4

Adjuvants, Anesthesia

Phase 4,Not Applicable

Anesthetics, Intravenous

Phase 4,Not Applicable

Mifepristone

Approved, Investigational

Phase 3

84371-65-3

55245

Progesterone

Approved, Vet_approved

Phase 2, Phase 3,Phase 3,Not Applicable

57-83-0

5994

Hormones

Phase 3,Phase 2,Not Applicable

Hormone Antagonists

Phase 3,Phase 2,Not Applicable

Contraceptives, Postcoital

Phase 3

Contraceptives, Oral

Phase 3

Hormones, Hormone Substitutes, and Hormone Antagonists

Phase 3,Phase 2,Not Applicable

Contraceptive Agents

Phase 3

Luteolytic Agents

Phase 3

Progestins

Phase 2, Phase 3,Phase 3,Not Applicable

Clindamycin

Approved, Vet_approved

Not Applicable

18323-44-9

29029

Cefazolin

Approved

Not Applicable

25953-19-9

33255 656510

Indomethacin

Approved, Investigational

Not Applicable

53-86-1

3715

Acetylcysteine

Approved, Investigational

Not Applicable

616-91-1

12035

Ropivacaine

Approved

Not Applicable

84057-95-4

175805 71273

Sevoflurane

Approved, Vet_approved

Not Applicable

28523-86-6

5206

Propofol

Approved, Investigational, Vet_approved

Not Applicable

2078-54-8

4943

Lidocaine

Approved, Vet_approved

Not Applicable

137-58-6

3676

Cyclooxygenase Inhibitors

Not Applicable

Anti-Bacterial Agents

Not Applicable

Antibiotics, Antitubercular

Not Applicable

Clindamycin palmitate

Not Applicable

Anti-Infective Agents

Not Applicable

Analgesics, Non-Narcotic

Not Applicable

Anti-Inflammatory Agents

Not Applicable

Antirheumatic Agents

Not Applicable

Clindamycin phosphate

Not Applicable

Tocolytic Agents

Not Applicable

Antitubercular Agents

Not Applicable

Interventional clinical trials:

(show all 26)

#	Name	Status	NCT ID	Phase	Drugs
1	Intravaginal Misoprostol Versus Dinoprostone Before Diagnostik Hysteroscopy	Unknown status	NCT01620814	Phase 4	Dinoprostone;misoprostol;control
2	Intrathecal Chloroprocaine vs. Bupivacaine for Cervical Cerclage	Completed	NCT03305575	Phase 4	Chloroprocaine;Bupivacaine
3	Chloroprocaine Spinal Anesthesia for Cervical Cerclage (CP Spinal)	Recruiting	NCT02862912	Phase 4	Chloroprocaine;Bupivacaine;Fentanyl;Saline
4	Cervical Preparation for Surgical Abortion at 12-14 Weeks: a Prospective, Randomized, Evaluator-blinded, Multicenter, Controlled Comparison Between Mifepristone, Misoprostol and Their Combination	Unknown status	NCT01795599	Phase 3	Mifegyne ®;Gymiso®
5	Cerclage for Twins With Short Cervix	Withdrawn	NCT03077633	Phase 2, Phase 3	Vaginal Progesterone
6	Physical Examination-Indicated Pessary	Withdrawn	NCT02967445	Phase 3
7	Vaginal Progesterone in Twins With Short Cervix	Withdrawn	NCT01812239	Phase 2, Phase 3	Vaginal Progesterone gel.;Placebo gel
8	The Effect of Adjunctive Use of Vaginal Progesterone After Cerclage on Prevention of 2nd Trimester Miscarriage	Unknown status	NCT02846909	Phase 2	Progesterone
9	Use of Pessary in Case of Cervical Insufficiency and Short Cervix	Unknown status	NCT03096691	Not Applicable
10	Patient Attitudes Toward Ultrasound Measurement of Cervical Length	Unknown status	NCT01482039	Not Applicable
11	Preventing Preterm Birth With a Pessary	Unknown status	NCT01380158	Not Applicable
12	Multifactorial Approach to Emergent Cerclage	Completed	NCT01114516	Not Applicable	Indomethacin and antibiotics (cefazolin or clindamycin)
13	Dilapan-S Osmotic Dilator in Pre-induction of Labor	Completed	NCT02098382
14	N-Acetyl Cysteine After Cervical Cerclage	Completed	NCT00787813	Not Applicable	N-Acetyl Cysteine;Placebo
15	The Biomarker Study	Completed	NCT01148654
16	Amniotic Fluid Sludge in Cerclage Patients as an Indicator for Increased Risk of Preterm Delivery and Neonatal Outcome.	Completed	NCT00722085
17	Maternal Gut Microbiome (MGM) Study of Diet, the Gut Microbiome and Preterm Birth	Completed	NCT02560246
18	Cerclage vs Cervical Pessary in Women With Cervical Incompetence	Recruiting	NCT02405455	Not Applicable
19	Comparison of Anesthesia Type in Patients Undergoing Transabdominal Cervico Isthmic Cerclage (TCIC)	Recruiting	NCT03636048	Not Applicable	Bupivacaine Hcl 0.5% Inj;Propofol 10 milligram/ML
20	Prolene Versus Ethibond for Cervical Cerclage	Recruiting	NCT03311867	Not Applicable
21	Cervical Cerclage for Singleton Pregnant on Vaginal Progesterone With Progressive Cervical Length Shortening	Recruiting	NCT03837288	Not Applicable
22	CellulaR Injury and Preterm Birth	Recruiting	NCT02441335
23	Prevention of Preterm Birth in Singletons Using Pessary After Resolutive Threatened Preterm Labor	Recruiting	NCT02484820	Not Applicable
24	The Impact of Cervical Cerclage or Vaginal Progesterone on Vaginal Microbiome Distribution	Recruiting	NCT03253016	Not Applicable
25	Cervical Occlusion for the Prevention of Preterm Birth	Terminated	NCT01737788	Not Applicable
26	Determination of ED90 of Intrathecal Lidocaine for Adequate Anesthesia for Elective Cervical Cerclage Surgery	Terminated	NCT02574832	Not Applicable	Lidocaine Administration

Search NIH Clinical Center for Cervical Incompetence

Cochrane evidence based reviews: uterine cervical incompetence

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Genetic Tests for Cervical Incompetence

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Anatomical Context for Cervical Incompetence

MalaCards organs/tissues related to Cervical Incompetence:

⁴²

Cervix, Bone, Testes, Placenta, Ovary

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Publications for Cervical Incompetence

Articles related to Cervical Incompetence:

(show top 50) (show all 161)

#	Title	Authors	Year
1	Don't be short-sighted: cervical incompetence in a pregnant patient with acute appendicitis. ( 29414522 )	Negrete LM...Spalluto LB	2018
2	The place for prophylactic cerclage in the infertile patient with established cervical incompetence who conceived twins after septum reduction. ( 29209482 )	Deanna J...Abuzeid M	2017
3	Co-morbidity of cervical incompetence with polycystic ovarian syndrome (PCOS) negatively impacts prognosis: A retrospective analysis of 178 patients. ( 27733131 )	Wang Y...Zhao Y	2016
4	Role of Cervical Cerclage and Vaginal Progesterone in the Treatment of Cervical Incompetence with/without Preterm Birth History. ( 27823998 )	Wang SW...Zhang JR	2016
5	Laparoscopic Cerclage for Prevention of Recurrent Pregnancy Loss Due to Cervical Incompetence. ( 27679035 )	Xia E...Huang X	2015
6	Successful delivery after transabdominal cerclage of uterine cervix for cervical incompetence after radical trachelectomy. ( 25944172 )	Ishioka S...Saito T	2015
7	Effects of Maternal Cervical Incompetence on Morbidity and Mortality of Preterm Neonates with Birth weight Less than 2000g. ( 26019783 )	Hua W...Ping W	2014
8	Successful treatment of cervical incompetence using a modified laparoscopic cervical cerclage technique: a cohort study. ( 24965992 )	Luo L...Yao SZ	2014
9	Oxidative status shifts in uterine cervical incompetence patients. ( 24304328 )	Zolotukhin P...Shkurat T	2014
10	Use of cervical cerclage as a treatment option for cervical incompetence: patient characteristics, presentation and management over a 9 year period in a Kenyan centre. ( 24069746 )	Karau PB...Karau GM	2013
11	Cervical incompetence associated with congenital uterine malformations. ( 23700889 )	Chifan M...Zanoschi C	2012
12	Effective treatment of cervical incompetence in a monochorionic monoamniotic twin pregnancy with a rescue cervical cerclage and pessary--a case report and review of literature. ( 23488300 )	Kosi?ska-Kaczy?ska K...Wielgo? M	2012
13	Pregnancy outcome after cerclage for cervical incompetence at the University of Port Harcourt Teaching Hospital, Port Harcourt. ( 23437511 )	Ikimalo JI...Inimgba N	2012
14	Cervical funneling after cerclage in cervical incompetence as a predictor of pregnancy outcome. ( 21463213 )	Song JE...Jun HA	2012
15	Laparoscopic cervicoisthmic cerclage for the treatment of cervical incompetence: case reports. ( 22519240 )	DaCosta V...Frederick-Johnston S	2011
16	Ambispective study on Mac Donald suturing in pregnant ladies with cervical incompetence in Dhulikhel Hospital. ( 22610738 )	Tamrakar SR...Chawla CD	2010
17	Association of very high Hungarian rate of preterm births with cervical incompetence in pregnant women. ( 20586224 )	B?nhidy F...Czeizel AE	2010
18	Pessary use for the treatment of cervical incompetence and prevention of preterm labour. ( 20334532 )	Kimber-Trojnar Z...Oleszczuk J	2010
19	Effects of maternal cervical incompetence on morbidity and mortality of very low birthweight neonates. ( 20234141 )	Sung TJ...Ju YS	2010
20	Uterine Didelphys with Pregnancy and Cervical Incompetence. ( 27407898 )	Maiti GD...Garg S	2006
21	Noninvasive cerclage for the management of cervical incompetence: a prospective study. ( 16222537 )	Acharya G...Maltau JM	2006
22	A five century evolution of cervical incompetence as a clinical entity. ( 15777226 )	Althuisius SM...Dekker GA	2005
23	Management of cervical incompetence in Aba, south-eastern Nigeria. ( 16353700 )	Feyi-Waboso PA...Umezurike CC	2005
24	Laparoscopic cervico-uterine cerclage using polypropylene mesh for the treatment of cervical incompetence. ( 16026416 )	Kj?llesdal M...Ellstr?m Engh MA	2005
25	Cervical incompetence and the role of emergency cerclage. ( 15937588 )	Cockwell HA...Smith GN	2005
26	Cervical surveillance as an alternative to elective cervical cerclage for pregnancy management of suspected cervical incompetence. ( 15191447 )	Higgins SP...Brennecke SP	2004
27	Preterm deliveries among women with MacDonald cerclage performed due to cervical incompetence. ( 15192297 )	Sheiner E...Mazor M	2004
28	Interleukin-6, but not relaxin, predicts outcome of rescue cerclage in women with cervical incompetence. ( 15467541 )	Lee KY...Kang SW	2004
29	Controversies regarding cervical incompetence, short cervix, and the need for cerclage. ( 15519424 )	Althuisius S...Dekker G	2004
30	Vaginal sonography and cervical incompetence. ( 12592276 )	Owen J...Hauth JC	2003
31	Diagnostic features of cervical incompetence among women in Maiduguri. ( 12745553 )	Audu BM...Kyari O	2003
32	Elective and emergency transabdominal cervicoisthmic cerclage for cervical incompetence. ( 12971139 )	Hole J...Martinez F	2003
33	Cervical incompetence prevention randomized cerclage trial: emergency cerclage with bed rest versus bed rest alone. ( 14586323 )	Althuisius SM...Cervical incompetence prevention randomized cerclage trial	2003
34	Complications of cervical cerclage in women with cervical incompetence. ( 14643041 )	Audu BM...Kyari OA	2003
35	Cervical incompetence: a reappraisal of an obstetric controversy. ( 12140372 )	Althuisius SM...van Geijn HP	2002
36	Cervical Incompetence Prevention Randomized Cerclage Trial (CIPRACT): effect of therapeutic cerclage with bed rest vs. bed rest only on cervical length. ( 12153667 )	Althuisius S...van Geijn H	2002
37	Cervical incompetence: the use of selective and emergency cerclage. ( 11234614 )	Matijevic R...Kurjak A	2001
38	Cervical incompetence: the use of transvaginal sonography to provide an objective diagnosis. ( 11555448 )	Macdonald R...Vyas S	2001
39	Hematometra after thermal balloon endometrial ablation in a patient with cervical incompetence. ( 11642669 )	Hubert SR...Hurd WW	2001
40	Final results of the Cervical Incompetence Prevention Randomized Cerclage Trial (CIPRACT): therapeutic cerclage with bed rest versus bed rest alone. ( 11717642 )	Althuisius SM...van Geijn HP	2001
41	The value of transvaginal ultrasonography in diagnosis and management of cervical incompetence. ( 11838756 )	Kassanos D...Creatsas C	2001
42	Cervical incompetence prevention randomized cerclage trial (CIPRACT): study design and preliminary results. ( 11035320 )	Althuisius SM...Hummel P	2000
43	Cervical incompetence: elective, emergent, or urgent cerclage. ( 10454663 )	Kurup M...Goldkrand JW	1999
44	The epidemiology of cervical incompetence in Ramathibodi Hospital between 1982-1997. ( 10511780 )	Chanrachakul B...Herabutya Y	1999
45	Can examination of the cervix provide useful information for prediction of cervical incompetence and following preterm labour? ( 10554937 )	Rocco BP...Garrone C	1999
46	MRI appearance of cervical incompetence in a pregnant patient. ( 10576725 )	Maldjian C...Pelosi M	1999
47	Diagnostic imaging in cervical incompetence. ( 10191659 )	Campioni P...Vincenzoni M	1998
48	The natural history of a positive response to transfundal pressure in women at risk for cervical incompetence. ( 9077619 )	Guzman ER...Hanley ML	1997
49	Transvaginal ultrasound in the management of women with suspected cervical incompetence. ( 9091022 )	Macdonald RD...Vyas SK	1997
50	Transvaginal ultrasound in the management of women with suspected cervical incompetence. ( 9091023 )	Quinn M	1997

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Genes for Cervical Incompetence

Genes related to Cervical Incompetence (0 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	IL6	Interleukin 6	Protein Coding	19.85	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
2	HOXA2	Homeobox A2	Protein Coding	15.49	DISEASES inferred ¹⁵
3	CRTAP	Cartilage Associated Protein	Protein Coding	15.14	DISEASES inferred ¹⁵
4	PLOD1	Procollagen-Lysine,2-Oxoglutarate 5-Dioxygenase 1	Protein Coding	15.1	DISEASES inferred ¹⁵
5	P3H1	Prolyl 3-Hydroxylase 1	Protein Coding	15.08	DISEASES inferred ¹⁵
6	ADAMTS2	ADAM Metallopeptidase With Thrombospondin Type 1 Motif 2	Protein Coding	14.97	DISEASES inferred ¹⁵
7	COL5A2	Collagen Type V Alpha 2 Chain	Protein Coding	14.89	DISEASES inferred ¹⁵

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Variations for Cervical Incompetence

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Expression for Cervical Incompetence

Search GEO for disease gene expression data for Cervical Incompetence.

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Pathways for Cervical Incompetence

Pathways related to Cervical Incompetence according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Collagen chain trimerization ⁶⁷ Show member pathways Anchoring fibril formation ⁶⁷ Assembly of collagen fibrils and other multimeric structures ⁶⁷ Blood Coagulation Cascade ⁶⁵ Collagen biosynthesis and modifying enzymes ⁶⁷ Collagen formation ⁶⁷ Crosslinking of collagen fibrils ⁶⁷ Intrinsic Prothrombin Activation Pathway ⁶⁵ Protein digestion and absorption ³⁸	12.08	ADAMTS2 COL5A2 CRTAP P3H1 PLOD1
2	Degradation of the extracellular matrix ⁶⁷ Show member pathways Collagen degradation ⁶⁷ Extracellular matrix organization ⁶⁷	11.67	ADAMTS2 COL5A2 CRTAP P3H1 PLOD1

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GO Terms for Cervical Incompetence

Cellular components related to Cervical Incompetence according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	endoplasmic reticulum lumen	GO:0005788	8.92	COL5A2 CRTAP IL6 P3H1

Biological processes related to Cervical Incompetence according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	skin development	GO:0043588	9.32	ADAMTS2 COL5A2
2	chaperone-mediated protein folding	GO:0061077	9.26	CRTAP P3H1
3	collagen metabolic process	GO:0032963	9.16	P3H1 PLOD1
4	collagen fibril organization	GO:0030199	9.13	ADAMTS2 COL5A2 PLOD1
5	negative regulation of post-translational protein modification	GO:1901874	8.62	CRTAP P3H1

Molecular functions related to Cervical Incompetence according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	iron ion binding	GO:0005506	9.26	P3H1 PLOD1
2	dioxygenase activity	GO:0051213	9.16	P3H1 PLOD1
3	oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	GO:0016705	8.96	P3H1 PLOD1
4	L-ascorbic acid binding	GO:0031418	8.62	P3H1 PLOD1

Sources

Sources for Cervical Incompetence

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