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 ⁵⁷ ²⁹ ⁶ ⁴⁰

Dche ⁵⁷

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 617992

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Summaries for Deafness, Congenital Heart Defects, and Posterior Embryotoxon

MalaCards based summary : Deafness, Congenital Heart Defects, and Posterior Embryotoxon, also known as dche, is related to familial deafness. An important gene associated with Deafness, Congenital Heart Defects, and Posterior Embryotoxon is JAG1 (Jagged 1). Affiliated tissues include heart.

Description 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	Top Affiliating Genes
1	familial deafness	10.2

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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

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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:

⁴¹

Heart

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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	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. ( 12022040 )	Le Caignec C....Moisan J.P.	2002

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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 1	Protein Coding	977.64	Molecular basis known ⁵⁷ Pathogenic ⁶ Unconfirmed association ⁵⁷ GeneCards inferred via : Publications Variants (show sections)	12022040 20437614

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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	Variation	Type	Significance	SNP ID	Assembly	Location
1	JAG1	NM_000214.2(JAG1): c.701G> A (p.Cys234Tyr)	single nucleotide variant	Pathogenic	rs121918353	GRCh37	Chromosome 20, 10637100: 10637100
2	JAG1	NM_000214.2(JAG1): c.701G> A (p.Cys234Tyr)	single nucleotide variant	Pathogenic	rs121918353	GRCh38	Chromosome 20, 10656452: 10656452

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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

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

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¹⁶ DrugBank

¹⁷ ExPASy

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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

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

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⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

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⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia