Otosclerosis 4 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

Sources

Aliases & Classifications for Otosclerosis 4

MalaCards integrated aliases for Otosclerosis 4:

Name: Otosclerosis 4 ⁵⁸ ¹³ ⁷⁴

Otsc4 ⁵⁸

Characteristics:

OMIM:

⁵⁸

Inheritance:
autosomal dominant

Miscellaneous:
2:1 female preponderance

HPO:

³³

otosclerosis 4:
Inheritance autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Bone diseases Ear diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁸ 611571

MedGen ⁴³ C1969046

SNOMED-CT via HPO ⁷⁰ 11543004 263681008 77507001

UMLS ⁷⁴ C1969046

Sources

Summaries for Otosclerosis 4

MalaCards based summary : Otosclerosis 4, also known as otsc4, is related to otosclerosis and perrault syndrome 1. An important gene associated with Otosclerosis 4 is OTSC4 (Otosclerosis 4). Related phenotypes are otosclerosis and mixed hearing impairment

Description from OMIM: 611571

Sources

Related Diseases for Otosclerosis 4

Diseases in the Otosclerosis family:

Otosclerosis 1	Otosclerosis 2
Otosclerosis 3	Otosclerosis 5
Otosclerosis 4	Otosclerosis 7
Otosclerosis 8	Otosclerosis 10
Otosclerosis, Familial

Diseases related to Otosclerosis 4 via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	otosclerosis	11.7
2	perrault syndrome 1	11.1

Sources

Symptoms & Phenotypes for Otosclerosis 4

Human phenotypes related to Otosclerosis 4:

³³

#	Description	HPO Frequency	HPO Source Accession
1	otosclerosis ³³		HP:0000362
2	mixed hearing impairment ³³		HP:0000410

Symptoms via clinical synopsis from OMIM:

⁵⁸

Head And Neck Ears:
otosclerosis
hearing loss, unilateral or bilateral, conductive or mixed conductive/sensorineural

Clinical features from OMIM:

611571

Sources

Drugs & Therapeutics for Otosclerosis 4

Search Clinical Trials , NIH Clinical Center for Otosclerosis 4

Sources

Genetic Tests for Otosclerosis 4

Sources

Anatomical Context for Otosclerosis 4

Sources

Publications for Otosclerosis 4

Sources

Genes for Otosclerosis 4

Genes related to Otosclerosis 4 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	OTSC4	Otosclerosis 4	Genetic Locus	57.74	Susceptibility factor ⁵⁸ GeneCards inferred via : Gene name (show sections)

Sources

Variations for Otosclerosis 4

Sources

Expression for Otosclerosis 4

Search GEO for disease gene expression data for Otosclerosis 4.

Sources

Pathways for Otosclerosis 4

Sources

GO Terms for Otosclerosis 4

Sources

Sources for Otosclerosis 4

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

Otosclerosis 4 (OTSC4)

Aliases & Classifications for Otosclerosis 4

MalaCards integrated aliases for Otosclerosis 4:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Otosclerosis 4

Related Diseases for Otosclerosis 4

Diseases in the Otosclerosis family:

Diseases related to Otosclerosis 4 via text searches within MalaCards or GeneCards Suite gene sharing:

Symptoms & Phenotypes for Otosclerosis 4

Human phenotypes related to Otosclerosis 4:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Otosclerosis 4

Genetic Tests for Otosclerosis 4

Anatomical Context for Otosclerosis 4

Publications for Otosclerosis 4

Genes for Otosclerosis 4

Genes related to Otosclerosis 4 (1 elite genes):

Variations for Otosclerosis 4

Expression for Otosclerosis 4

Pathways for Otosclerosis 4

GO Terms for Otosclerosis 4

Sources for Otosclerosis 4