Deafness, Congenital Heart Defects, and Posterior Embryotoxon disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Deafness, Congenital Heart Defects, and Posterior Embryotoxon

MalaCards integrated aliases for Deafness, Congenital Heart Defects, and Posterior Embryotoxon:

Name: Deafness, Congenital Heart Defects, and Posterior Embryotoxon ⁵⁶ ⁷³ ²⁹ ⁶

Dche ⁵⁶ ⁷³

Deafness, Congenital Heart Defects, Posterior Embryotoxon ³⁹

Classifications:

MalaCards categories:
Global: Genetic diseases Fetal diseases
Anatomical: Ear diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁶ 617992

MeSH ⁴³ D000013

MedGen ⁴¹ C1866053

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Summaries for Deafness, Congenital Heart Defects, and Posterior Embryotoxon

UniProtKB/Swiss-Prot : ⁷³ Deafness, congenital heart defects, and posterior embryotoxon: An autosomal dominant disease characterized by mild to severe combined hearing loss, congenital heart defects, and posterior embryotoxon, a corneal abnormality consisting of a central collagen core surrounded by a thin layer of Descemets membrane and separated from the anterior chamber by a layer of endothelium. Congenital heart defects include tetralogy of Fallot, ventricular septal defect, or isolated peripheral pulmonic stenosis.

MalaCards based summary : Deafness, Congenital Heart Defects, and Posterior Embryotoxon, also known as dche, is related to alagille syndrome 1 and tetralogy of fallot. An important gene associated with Deafness, Congenital Heart Defects, and Posterior Embryotoxon is JAG1 (Jagged Canonical Notch Ligand 1). Affiliated tissues include heart and brain.

More information from OMIM: 617992

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Related Diseases for Deafness, Congenital Heart Defects, and Posterior Embryotoxon

Diseases related to Deafness, Congenital Heart Defects, and Posterior Embryotoxon via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score
1	alagille syndrome 1	10.3
2	tetralogy of fallot	10.3
3	pulmonic stenosis	10.3
4	branchiootic syndrome 1	10.3
5	ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus	10.3
6	ventricular septal defect	10.3
7	heart septal defect	10.3
8	familial deafness	10.3

Graphical network of the top 20 diseases related to Deafness, Congenital Heart Defects, and Posterior Embryotoxon:

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Symptoms & Phenotypes for Deafness, Congenital Heart Defects, and Posterior Embryotoxon

Clinical features from OMIM:

617992

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Drugs & Therapeutics for Deafness, Congenital Heart Defects, and Posterior Embryotoxon

Search Clinical Trials , NIH Clinical Center for Deafness, Congenital Heart Defects, and Posterior Embryotoxon

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Genetic Tests for Deafness, Congenital Heart Defects, and Posterior Embryotoxon

Genetic tests related to Deafness, Congenital Heart Defects, and Posterior Embryotoxon:

#	Genetic test	Affiliating Genes
1	Deafness, Congenital Heart Defects, and Posterior Embryotoxon ²⁹	JAG1

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Anatomical Context for Deafness, Congenital Heart Defects, and Posterior Embryotoxon

MalaCards organs/tissues related to Deafness, Congenital Heart Defects, and Posterior Embryotoxon:

⁴⁰

Heart, Brain

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Publications for Deafness, Congenital Heart Defects, and Posterior Embryotoxon

Articles related to Deafness, Congenital Heart Defects, and Posterior Embryotoxon:

#	Title	Authors	PMID	Year
1	Familial deafness, congenital heart defects, and posterior embryotoxon caused by cysteine substitution in the first epidermal-growth-factor-like domain of jagged 1. ⁵⁶ ⁶¹ ⁶	Le Caignec C...Moisan JP	12022040	2002
2	Jagged1 (JAG1) mutations in patients with tetralogy of Fallot or pulmonic stenosis. ⁶ ⁵⁶	Bauer RC...Spinner NB	20437614	2010
3	Analgesic and anti-nociceptive activity of hydroethanolic extract of Drymaria cordata Willd. ⁶¹	Barua CC...Lahkar M	21572643	2011
4	Anxiolytic effect of hydroethanolic extract of Drymaria cordata L Willd. ⁶¹	Barua CC...Lahkar M	20329700	2009
5	Performance of silicon nanocrystal non-volatile memory devices under various programming mechanisms. ⁶¹	Ng CY...Li S	17455499	2007
6	[Na+, K+-ATPase activity and serotonin transport in the rat brain synaptosomes fractions after acute 1,2-dichloroethane intoxication and nicotinamide administration]. ⁶¹	Gubs'kyi IuI...Kuchmerovs'ka TM	16350752	2004

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Genes for Deafness, Congenital Heart Defects, and Posterior Embryotoxon

Genes related to Deafness, Congenital Heart Defects, and Posterior Embryotoxon (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	JAG1	Jagged Canonical Notch Ligand 1	Protein Coding	1378.5	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative variation ⁷³ Genetic Tests ²⁹ Unconfirmed association ⁵⁶ GeneCards inferred via : Disorders Publications Variants (show sections)	20437614 12022040

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Variations for Deafness, Congenital Heart Defects, and Posterior Embryotoxon

ClinVar genetic disease variations for Deafness, Congenital Heart Defects, and Posterior Embryotoxon:

⁶ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	JAG1	NM_000214.3(JAG1):c.551G>A (p.Arg184His)	SNV	Pathogenic	7620	rs121918351	20:10639259-10639259	20:10658611-10658611
2	JAG1	NM_000214.3(JAG1):c.701G>A (p.Cys234Tyr)	SNV	Likely pathogenic	7626	rs121918353	20:10637100-10637100	20:10656452-10656452
3	JAG1	NM_000214.3(JAG1):c.2666G>A (p.Arg889Gln)	SNV	Uncertain significance	234323	rs149419694	20:10622447-10622447	20:10641799-10641799
4	JAG1	NM_000214.3(JAG1):c.3467T>C (p.Val1156Ala)	SNV	Uncertain significance	424319	rs143966918	20:10620336-10620336	20:10639688-10639688
5	JAG1	NM_000214.3(JAG1):c.3391G>A (p.Ala1131Thr)	SNV	Uncertain significance	536530	rs769242977	20:10620412-10620412	20:10639764-10639764

UniProtKB/Swiss-Prot genetic disease variations for Deafness, Congenital Heart Defects, and Posterior Embryotoxon:

⁷³

#	Symbol	AA change	Variation ID	SNP ID
1	JAG1	p.Cys234Tyr	VAR_026318	rs121918353

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Expression for Deafness, Congenital Heart Defects, and Posterior Embryotoxon

Search GEO for disease gene expression data for Deafness, Congenital Heart Defects, and Posterior Embryotoxon.

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Pathways for Deafness, Congenital Heart Defects, and Posterior Embryotoxon

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GO Terms for Deafness, Congenital Heart Defects, and Posterior Embryotoxon

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Sources for Deafness, Congenital Heart Defects, and Posterior Embryotoxon

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

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⁸ Cochrane Library

⁹ Cosmic

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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

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

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⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

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⁵⁶ OMIM

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⁶⁴ R&D Systems

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⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Deafness, Congenital Heart Defects, and Posterior Embryotoxon (DCHE)

Aliases & Classifications for Deafness, Congenital Heart Defects, and Posterior Embryotoxon

MalaCards integrated aliases for Deafness, Congenital Heart Defects, and Posterior Embryotoxon:

Classifications:

External Ids:

Summaries for Deafness, Congenital Heart Defects, and Posterior Embryotoxon

Related Diseases for Deafness, Congenital Heart Defects, and Posterior Embryotoxon

Diseases related to Deafness, Congenital Heart Defects, and Posterior Embryotoxon via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Deafness, Congenital Heart Defects, and Posterior Embryotoxon:

Symptoms & Phenotypes for Deafness, Congenital Heart Defects, and Posterior Embryotoxon

Clinical features from OMIM:

Drugs & Therapeutics for Deafness, Congenital Heart Defects, and Posterior Embryotoxon

Genetic Tests for Deafness, Congenital Heart Defects, and Posterior Embryotoxon

Genetic tests related to Deafness, Congenital Heart Defects, and Posterior Embryotoxon:

Anatomical Context for Deafness, Congenital Heart Defects, and Posterior Embryotoxon

MalaCards organs/tissues related to Deafness, Congenital Heart Defects, and Posterior Embryotoxon:

Publications for Deafness, Congenital Heart Defects, and Posterior Embryotoxon

Articles related to Deafness, Congenital Heart Defects, and Posterior Embryotoxon:

Genes for Deafness, Congenital Heart Defects, and Posterior Embryotoxon

Genes related to Deafness, Congenital Heart Defects, and Posterior Embryotoxon (1 elite genes):

Variations for Deafness, Congenital Heart Defects, and Posterior Embryotoxon

ClinVar genetic disease variations for Deafness, Congenital Heart Defects, and Posterior Embryotoxon:

UniProtKB/Swiss-Prot genetic disease variations for Deafness, Congenital Heart Defects, and Posterior Embryotoxon:

Expression for Deafness, Congenital Heart Defects, and Posterior Embryotoxon

Pathways for Deafness, Congenital Heart Defects, and Posterior Embryotoxon

GO Terms for Deafness, Congenital Heart Defects, and Posterior Embryotoxon

Sources for Deafness, Congenital Heart Defects, and Posterior Embryotoxon