Hypoplastic Right Heart Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Hypoplastic Right Heart Syndrome

MalaCards integrated aliases for Hypoplastic Right Heart Syndrome:

Name: Hypoplastic Right Heart Syndrome ¹² ⁵³ ⁵⁹ ⁶ ¹⁵ ³³

Right Hypoplastic Heart Syndrome ⁷²

Characteristics:

Orphanet epidemiological data:

⁵⁹

hypoplastic right heart syndrome
Prevalence: 1-9/100000 (Europe),1-9/100000 (Belgium),1-5/10000 (Denmark),1-9/100000 (France),1-9/100000 (Germany),1-9/100000 (Hungary),1-9/100000 (Ireland),1-9/100000 (Italy),1-5/10000 (Malta),1-9/100000 (Netherlands),1-9/100000 (Norway),1-9/1000000 (Poland),1-5/10000 (Switzerland),1-9/100000 (United Kingdom),1-9/100000 (Ukraine),1-9/1000000 (Spain);

Classifications:

MalaCards categories:
Global: Rare diseases Fetal diseases
Anatomical: Cardiovascular diseases Blood diseases

See all MalaCards categories (disease lists)

ICD10: ³³ ³⁴

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations of the circulatory system

Congenital malformations of pulmonary and tricuspid valves

Hypoplastic right heart syndrome

Orphanet: ⁵⁹

Rare cardiac malformations

Developmental anomalies during embryogenesis

External Ids:

Disease Ontology ¹² DOID:0070315

ICD10 ³³ Q22.6

ICD10 via Orphanet ³⁴ Q22.6

UMLS via Orphanet ⁷³ C0265856 C0344963

Orphanet ⁵⁹ ORPHA98723

UMLS ⁷² C0344963

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Summaries for Hypoplastic Right Heart Syndrome

NIH Rare Diseases : ⁵³ Hypoplastic right heart syndrome is a rare heart defect, present at birth (congenital), that results in low blood oxygen levels. It is caused by underdevelopment of the structures on the right side of the heart (tricuspid valve, right ventricle, pulmonary valve, and pulmonary artery) and commonly associated with atrial septal defect. The underdeveloped right side of the heart is unable to provide enough blood flow to the body, leading to low blood oxygen and cyanosis. It differs from hypoplastic left heart syndrome which involves the underdevelopment of the structures on the left side of the heart.

MalaCards based summary : Hypoplastic Right Heart Syndrome, also known as right hypoplastic heart syndrome, is related to aortic valve disease 1 and pulmonary atresia with intact ventricular septum. An important gene associated with Hypoplastic Right Heart Syndrome is TBX20 (T-Box Transcription Factor 20), and among its related pathways/superpathways are Focal Adhesion and Regulation of actin cytoskeleton. The drugs Sodium citrate and Citric acid have been mentioned in the context of this disorder. Affiliated tissues include heart and lung, and related phenotypes are Decreased cell migration and cardiovascular system

Disease Ontology : ¹² A congenital heart disease characterized by underdevelopment of the structures on the right side of the heart commonly associated with atrial septal defect.

Wikipedia : ⁷⁵ Hypoplastic right heart syndrome is a congenital heart defect in which the right atrium and right... more...

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Related Diseases for Hypoplastic Right Heart Syndrome

Diseases related to Hypoplastic Right Heart Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 25, show less)

#	Related Disease	Score	Top Affiliating Genes
1	aortic valve disease 1	29.4	TBX20 SOS1 NOTCH1
2	pulmonary atresia with intact ventricular septum	11.1
3	right ventricular hypoplasia, isolated	10.7
4	heart septal defect	10.3
5	atrial heart septal defect	10.3
6	tricuspid atresia	10.2
7	mitral valve insufficiency	10.1
8	ventricular septal defect	10.1
9	atrial septal aneurysm	10.1
10	noonan syndrome 1	9.9
11	williams-beuren syndrome	9.9
12	endocardial fibroelastosis	9.9
13	orthostatic intolerance	9.9
14	cyanosis, transient neonatal	9.9
15	tricuspid valve stenosis	9.9
16	aortic valve insufficiency	9.9
17	pulmonary valve stenosis	9.9
18	complete atrioventricular canal	9.9
19	pseudo-turner syndrome	9.9
20	single ventricular heart	9.9
21	aneurysm	9.9
22	interatrial communication	9.9
23	schneiderian carcinoma	9.7	RBL2 NOTCH1
24	hallermann-streiff syndrome	9.4	NOTCH1 ERBB4
25	heart disease	9.2	TBX20 SOS1 SALL1 NOTCH1

Graphical network of the top 20 diseases related to Hypoplastic Right Heart Syndrome:

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Symptoms & Phenotypes for Hypoplastic Right Heart Syndrome

GenomeRNAi Phenotypes related to Hypoplastic Right Heart Syndrome according to GeneCards Suite gene sharing:

²⁶ (showing 1, show less)

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased cell migration	GR00055-A-1	8.92	ERBB4 FGR MYLK3 SOS1

MGI Mouse Phenotypes related to Hypoplastic Right Heart Syndrome:

⁴⁶ (showing 10, show less)

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	cardiovascular system	MP:0005385	10.26	ERBB4 F10 FGF19 FGR ITGB8 MYLK3
2	cellular	MP:0005384	10.11	EPB41L3 ERBB4 FGF19 ITGB8 NOTCH1 RBL2
3	embryo	MP:0005380	10.06	ERBB4 FGF19 ITGB8 NOTCH1 RBL2 RPGRIP1L
4	mortality/aging	MP:0010768	10.03	EPB41L3 ERBB4 F10 FGF19 ITGB8 MYLK3
5	homeostasis/metabolism	MP:0005376	9.97	F10 FGF19 ITGB8 MYLK3 NOTCH1 RBL2
6	craniofacial	MP:0005382	9.91	ERBB4 ITGB8 NOTCH1 RBL2 RPGRIP1L SOS1
7	hearing/vestibular/ear	MP:0005377	9.77	FGF19 NOTCH1 RBL2 RPGRIP1L SALL1
8	muscle	MP:0005369	9.7	ERBB4 MYLK3 NOTCH1 RBL2 RPGRIP1L SOS1
9	nervous system	MP:0003631	9.61	EPB41L3 ERBB4 FGF19 ITGB8 NOTCH1 RBL2
10	normal	MP:0002873	9.23	EPB41L3 ERBB4 FGR ITGB8 NOTCH1 RBL2

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Drugs & Therapeutics for Hypoplastic Right Heart Syndrome

Drugs for Hypoplastic Right Heart Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(showing 7, show less)

#

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

1

Sodium citrate

Approved, Investigational

Phase 1

68-04-2

Synonyms:

Anhydrous sodium citrate

Anhydrous trisodium citrate

Citric acid, trisodium salt

Natrii citras

Natrocitral

Sodium citrate anhydrous

Sodium citrate, anhydrous

Sodium citrate,anhydrous

trisodium citrate anhydrous

Trisodium citrate, anhydrous

Trisodium-citrate

2

Citric acid

Approved, Nutraceutical, Vet_approved

Phase 1

77-92-9

311

Synonyms:

2-hydroxy-1,2,3-propanetricarboxyic acid

2-Hydroxy-1,2,3-propanetricarboxylate

2-Hydroxy-1,2,3-propanetricarboxylic acid

2-Hydroxytricarballylate

2-Hydroxytricarballylic acid

3-Carboxy-3-hydroxypentane-1,5-dioate

3-carboxy-3-hydroxypentane-1,5-dioic acid

3-Carboxy-3-hydroxypentane-1,5-dioic acid

Acid monohydrate, citric

ácido cítrico

Acidum citricum

Aciletten

Anhydrous citrate

Anhydrous citric acid

beta-Hydroxytricarballylate

beta-Hydroxytricarballylic acid

Chemfill

Citraclean

Citrate

Citretten

Citric acid monoglyceride

Citric acid monohydrate

Citric acid, anhydrous

Citric Acid, Anhydrous

Citric acid,anhydrous

Citro

Citronensaeure

Citronensäure

e 330

e330

H3Cit

Hydrocerol a

Kyselina citronova

Monohydrate, citric acid

Suby g

Uralyt u

uro-Trainer

3

Sildenafil Citrate

Phase 1

171599-83-0

4

Citrate

Phase 1

5

Phosphodiesterase Inhibitors

Phase 1

6

Phosphodiesterase 5 Inhibitors

Phase 1

7

Vasodilator Agents

Phase 1

Interventional clinical trials:

(showing 2, show less)

#	Name	Status	NCT ID	Phase	Drugs
1	Safety, Pharmacokinetics and Hemodynamic Efficacy of Sildenafil in Single Ventricle Patients	Completed	NCT01169519	Phase 1	Sildenafil by injection;Sildenafil by injection;Sildenafil by injection;Sildenafil by injection
2	The GECHO Trial: Genetic Determinants of Congenital Heart Disease Outcomes	Active, not recruiting	NCT01656941

Search NIH Clinical Center for Hypoplastic Right Heart Syndrome

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Genetic Tests for Hypoplastic Right Heart Syndrome

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Anatomical Context for Hypoplastic Right Heart Syndrome

MalaCards organs/tissues related to Hypoplastic Right Heart Syndrome:

⁴¹

Heart, Lung

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Publications for Hypoplastic Right Heart Syndrome

Articles related to Hypoplastic Right Heart Syndrome:

(showing 44, show less)

#	Title	Authors	PMID	Year
1	Minor alleles of genetic variants in second heart field increase the risk of hypoplastic right heart syndrome. ³⁸	Wang E...Hu S	31204705	2019
2	Copy number variants in hypoplastic right heart syndrome. ³⁸	Giannakou A...Mills JL	30289599	2018
3	Cerebrovascular hemodynamics in fetuses with congenital heart disease. ³⁸	Man T...Ge S	29287136	2017
4	Fetal interventions for structural heart disease. ³⁸	Schidlow DN...Tworetzky W	29287139	2017
5	The boundaries of fetal cardiac intervention: Expand or tighten? ³⁸	Gellis L...Tworetzky W	28867155	2017
6	Resuscitation of a Newborn with Right Hypoplastic Heart Syndrome: A Rare Confrontation for an Anesthesiologist. ³⁸	Kadam PG...Patel RR	29284892	2017
7	Hypoplastic Left Heart Syndrome Sequencing Reveals a Novel NOTCH1 Mutation in a Family with Single Ventricle Defects. ³⁸	Durbin MD...Hong CC	28608148	2017
8	Rare copy number variants in a population-based investigation of hypoplastic right heart syndrome. ³⁸	Dimopoulos A...Mills JL	28009100	2017
9	Hypoplastic right heart syndrome, absent pulmonary valve, and non-compacted left ventricle in an adult. ³⁸	Mohan JC...Sethi A	27751299	2016
10	Fetal interventions for congenital heart disease. ³⁸	Freud LR...Tworetzky W	26886784	2016
11	Fetal cardiac interventions: clinical and experimental research. ³⁸	Yuan SM...Humuruola G	27279868	2016
12	"Rigid body rotation" of the left ventricle in hypoplastic right-heart syndrome: a case from the three-dimensional speckle-tracking echocardiographic MAGYAR-Path Study. ³⁸	Nemes A...Forster T	24932961	2015
13	Outcomes and management strategies in pregnancies with early onset oligohydramnios. ³⁸	Ulkumen BA...Koyuncu FM	26152010	2015
14	Fetal cardiac interventions: an update of therapeutic options. ³⁸	Yuan SM	25372914	2014
15	Variety of prenatally diagnosed congenital heart disease in 22q11.2 deletion syndrome. ³⁸	Lee MY...Kim A	24596813	2014
16	LEFT VENTRICULAR INFLOW OBSTRUCTION BY GIANT ATRIAL SEPTAL ANEURYSM IN A NEONATE WITH HYPOPLASTIC RIGHT HEART SYNDROME: CASE REPORT. ³⁸	Yuko-Jowi C...Okello CA	26866104	2013
17	Hypoplastic right-heart syndrome presenting as multiple miscarriages. ³⁸	Dib C...Ammash NM	22740745	2012
18	Prenatal diagnosis of bilateral ventriculocoronary fistulas with hypoplasia of the left ventricle. ³⁸	Gul A...Ceylan Y	18577679	2008
19	Prenatal diagnosis of the hypoplastic right heart syndrome with sex chromosome pentasomy (49,XXXXY). ³⁸	Chen CP...Wang W	17323405	2007
20	Noncardiac malformations in congenital heart disease: a retrospective analysis of 305 pediatric autopsies. ³⁸	Gucer S...Caglar M	16052857	2005
21	[Interventional therapy for complex congenital heart disease]. ³⁸	Zhou AQ...Huang MR	15631702	2004
22	Aortic stenosis in hypoplastic right heart syndrome, associated with interstitial deletion of chromosome 2. ³⁸	Sharma J...Alonso ML	9476678	1997
23	Percutaneous coil embolization and balloon-expandable stenting; new treatments in intractable cardiac failure after Fontan procedure: a case report. ³⁸	Laohaprasitipron D...Hongvisitgul C	8708524	1996
24	[Pulsatile total cavopulmonary shunt for hypoplastic right heart syndrome with abnormal systemic venous return--a case report]. ³⁸	Oiwa H...Furuse A	7884251	1995
25	Separation of thoracopagus conjoined twins. A case report. ³⁸	Chiu CT...Chu SH	7995841	1994
26	Early and late results of the modified Waterston shunt with PTFE grafts for palliation of complex congenital cyanotic heart disease in neonates. ³⁸	Fenchel G...Hoffmeister HE	1785113	1991
27	The value of the autopsy in congenital heart disease. ³⁸	Kay MH...Homa A	1879103	1991
28	The bidirectional cavopulmonary shunt. ³⁸	Lamberti JJ...Mathewson JW	1694938	1990
29	Tricuspid atresia versus other complex lesions. Comparison of results with a modified Fontan procedure. ³⁸	Stellin G...Gallucci V	3398542	1988
30	Ventriculocoronary connections in hypoplastic right heart syndrome: autopsy serial section study of six cases. ³⁸	O'Connor WN...Noonan JA	3281992	1988
31	[Mitral valve abnormalities in the hypoplastic right heart syndrome: echocardiographic observations]. ³⁸	Konishi T...Takao A	3429912	1986
32	Soft-tissue swelling in two neonates during prostaglandin E1 therapy. ³⁸	Jureidini S...Sheneflet RE	3543871	1986
33	Magnetic resonance imaging in patients with hypoplastic right heart syndrome. ³⁸	Jacobstein MD...Riemenschneider TA	4013974	1985
34	Balloon occlusion of atrial septal defect to assess right ventricular capability in hypoplastic right heart syndrome. ³⁸	Bass JL...Lock JE	6225563	1983
35	Fatal postoperative acute appendicitis in a neonate with congenital heart disease. ³⁸	Trojanowski JQ...Akins CW	7229854	1981
36	Separation of conjoined thoracopagous twins joined at the right atrial. ³⁸	Synhorst D...McGough E	420116	1979
37	Epicardial nodules: a possible sign of coronary endarteritis with hypoplastic right heart syndrome. ³⁸	Vigorita V	661054	1978
38	Echocardiographic diagnosis of atrial septal aneurysm in an infant with hypoplastic right heart syndrome. ³⁸	Sahn DJ...Goldberg SJ	620589	1978
39	Cyanotic heart disease: "low altitude" risk for carotid body tumor? ³⁸	Nissenblatt MJ	625092	1978
40	[Right atrium-pulmonary artery bypass for the correction of hypoplastic right heart syndrome]. ³⁸	Iriyama T...Koyanagi H	944746	1976
41	Coronary and endocardial fibroelastosis of the ventricles in the hypoplastic left and right heart syndromes. ³⁸	Essed CE...Vorst EJ	810950	1975
42	Proceedings: Use of right atrium to pulmonary artery valved conduit for 'correction' of single ventricle of hypoplastic right heart syndrome. ³⁸	Yacoub M...Radley-Smith R	1156498	1975
43	Surgical management of the hypoplastic right heart syndrome. ³⁸	Weldon CS...Ferguson TB	5484627	1970
44	Endocardial fibroelastosis of the right ventricle in the newborn. Presenting the clinical picture of the hypoplastic right heart syndrome. ³⁸	Morgan AD...Shanklin DR	4224286	1966

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Genes for Hypoplastic Right Heart Syndrome

Genes related to Hypoplastic Right Heart Syndrome (1 elite genes):

(showing 13, show less)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	TBX20	T-Box Transcription Factor 20	Protein Coding	423.71	Pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)
2	ITGB8	Integrin Subunit Beta 8	Protein Coding	15.94	DISEASES inferred ¹⁵
3	RPGRIP1L	RPGRIP1 Like	Protein Coding	15.66	DISEASES inferred ¹⁵
4	EPB41L3	Erythrocyte Membrane Protein Band 4.1 Like 3	Protein Coding	15.53	DISEASES inferred ¹⁵
5	SALL1	Spalt Like Transcription Factor 1	Protein Coding	15.42	DISEASES inferred ¹⁵
6	FGR	FGR Proto-Oncogene, Src Family Tyrosine Kinase	Protein Coding	15.38	DISEASES inferred ¹⁵
7	SOS1	SOS Ras/Rac Guanine Nucleotide Exchange Factor 1	Protein Coding	15.18	DISEASES inferred ¹⁵
8	F10	Coagulation Factor X	Protein Coding	14.73	DISEASES inferred ¹⁵
9	FGF19	Fibroblast Growth Factor 19	Protein Coding	14.69	DISEASES inferred ¹⁵
10	ERBB4	Erb-B2 Receptor Tyrosine Kinase 4	Protein Coding	14.38	DISEASES inferred ¹⁵
11	NOTCH1	Notch Receptor 1	Protein Coding	13.57	DISEASES inferred ¹⁵
12	MYLK3	Myosin Light Chain Kinase 3	Protein Coding	6.45	DISEASES inferred ¹⁵
13	RBL2	RB Transcriptional Corepressor Like 2	Protein Coding	4.94	DISEASES inferred ¹⁵

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Variations for Hypoplastic Right Heart Syndrome

ClinVar genetic disease variations for Hypoplastic Right Heart Syndrome:

⁶ (showing 1, show less)

#	Gene	Variation	Type	Significance	SNP ID	GRCh37 Pos	GRCh38 Pos
1	TBX20	NM_001077653.2(TBX20): c.995del (p.Pro332fs)	deletion	Pathogenic	rs1554284604	7:35244090-35244090	7:35204478-35204478

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Expression for Hypoplastic Right Heart Syndrome

Search GEO for disease gene expression data for Hypoplastic Right Heart Syndrome.

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Pathways for Hypoplastic Right Heart Syndrome

Pathways related to Hypoplastic Right Heart Syndrome according to GeneCards Suite gene sharing:

(showing 7, show less)

#	Super pathways	Score	Top Affiliating Genes
1	Focal Adhesion ³⁷ ¹ Show member pathways HGF Pathway ⁶⁴ Integrin-mediated Cell Adhesion ¹	12.44	SOS1 MYLK3 ITGB8 FGR
2	Regulation of actin cytoskeleton ³⁷ ¹	12.12	SOS1 MYLK3 ITGB8 FGF19
3	PI3K-Akt signaling pathway ³⁷ Show member pathways Human papillomavirus infection ³⁷	11.94	SOS1 RBL2 NOTCH1 ITGB8 FGF19 ERBB4
4	G-protein signaling RAC1 in cellular process ²² Show member pathways CDC42 signaling events ¹ Cytoskeleton remodeling CDC42 in cellular processes ²² RAC1 signaling pathway ¹	11.92	SOS1 ITGB8 FGF19 ERBB4
5	G-protein signaling_RhoA regulation pathway ²²	11.15	SOS1 ITGB8 FGF19 ERBB4
6	Class I PI3K signaling events ¹	11.02	SOS1 FGR
7	Cardiac Progenitor Differentiation ¹	10.86	TBX20 NOTCH1 MYLK3

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GO Terms for Hypoplastic Right Heart Syndrome

Biological processes related to Hypoplastic Right Heart Syndrome according to GeneCards Suite gene sharing:

(showing 17, show less)

#	Name	GO ID	Score	Top Affiliating Genes
1	positive regulation of transcription, DNA-templated	GO:0045893	9.87	TBX20 SALL1 NOTCH1 ERBB4
2	positive regulation of cell migration	GO:0030335	9.73	NOTCH1 FGR F10
3	MAPK cascade	GO:0000165	9.72	SOS1 FGF19 ERBB4
4	positive regulation of protein kinase B signaling	GO:0051897	9.67	FGF19 F10 ERBB4
5	negative regulation of gene expression	GO:0010629	9.67	RBL2 NOTCH1 ITGB8 FGF19
6	ERBB2 signaling pathway	GO:0038128	9.54	SOS1 ERBB4
7	embryonic hindlimb morphogenesis	GO:0035116	9.52	RPGRIP1L NOTCH1
8	positive regulation of JAK-STAT cascade	GO:0046427	9.51	NOTCH1 ERBB4
9	aortic valve morphogenesis	GO:0003180	9.48	TBX20 NOTCH1
10	cardiac muscle tissue morphogenesis	GO:0055008	9.46	TBX20 NOTCH1
11	endocardial cushion morphogenesis	GO:0003203	9.43	TBX20 NOTCH1
12	heart trabecula morphogenesis	GO:0061384	9.4	SOS1 NOTCH1
13	positive regulation of cardiac muscle cell proliferation	GO:0060045	9.33	TBX20 NOTCH1 ERBB4
14	cardiac atrium morphogenesis	GO:0003209	9.32	SOS1 NOTCH1
15	olfactory bulb interneuron differentiation	GO:0021889	9.26	SALL1 ERBB4
16	cardiac chamber formation	GO:0003207	8.96	TBX20 NOTCH1
17	pericardium morphogenesis	GO:0003344	8.8	TBX20 SOS1 NOTCH1

Molecular functions related to Hypoplastic Right Heart Syndrome according to GeneCards Suite gene sharing:

(showing 1, show less)

#	Name	GO ID	Score	Top Affiliating Genes
1	Ras guanyl-nucleotide exchange factor activity	GO:0005088	8.32	SOS1

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Sources for Hypoplastic Right Heart Syndrome

¹ BioSystems

² BitterDB

³ CDC

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¹⁰ dbSNP

¹¹ DGIdb

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¹⁶ DrugBank

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¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

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³⁰ HGMD

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³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

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³⁶ IUPHAR

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⁴¹ MalaCards

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⁵¹ NDF-RT

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⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

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⁶¹ PharmGKB

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⁷³ UMLS via Orphanet

⁷⁴ UniProtKB/Swiss-Prot

⁷⁵ Wikipedia