OTSC2
MCID: OTS006
MIFTS: 15

Otosclerosis 2 (OTSC2)

Categories: Bone diseases, Ear diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Otosclerosis 2

MalaCards integrated aliases for Otosclerosis 2:

Name: Otosclerosis 2 58 13 74
Otsc2 58

Classifications:



External Ids:

OMIM 58 605727
MedGen 43 C1854022
UMLS 74 C1854022

Summaries for Otosclerosis 2

MalaCards based summary : Otosclerosis 2, also known as otsc2, is related to cone-rod dystrophy and hearing loss 2 and otosclerosis 1. An important gene associated with Otosclerosis 2 is OTSC2 (Otosclerosis 2). Affiliated tissues include t cells and bone.

Description from OMIM: 605727

Related Diseases for Otosclerosis 2

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 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 cone-rod dystrophy and hearing loss 2 11.1
2 otosclerosis 1 10.1
3 otosclerosis 9.9

Symptoms & Phenotypes for Otosclerosis 2

Clinical features from OMIM:

605727

Drugs & Therapeutics for Otosclerosis 2

Search Clinical Trials , NIH Clinical Center for Otosclerosis 2

Genetic Tests for Otosclerosis 2

Anatomical Context for Otosclerosis 2

MalaCards organs/tissues related to Otosclerosis 2:

42
T Cells, Bone

Publications for Otosclerosis 2

Articles related to Otosclerosis 2:

# Title Authors Year
1
Otosclerosis 2: the medical management of otosclerosis. ( 20089010 )
2010
2
Involvement of T-cell receptor-beta alterations in the development of otosclerosis linked to OTSC2. ( 20182450 )
2010
3
Phenotype-genotype correlations in otosclerosis: clinical features of OTSC2. ( 17245031 )
2007
4
No evidence of linkage between 7q33-36 locus (OTSC2) and otosclerosis in seven British Caucasian pedigrees. ( 17908356 )
2007
5
Otosclerosis: exclusion of linkage to the OTSC1 and OTSC2 loci in four Italian families. ( 14658855 )
2003
6
A second gene for otosclerosis, OTSC2, maps to chromosome 7q34-36. ( 11170898 )
2001

Variations for Otosclerosis 2

Expression for Otosclerosis 2

Search GEO for disease gene expression data for Otosclerosis 2.

Pathways for Otosclerosis 2

GO Terms for Otosclerosis 2

Sources for Otosclerosis 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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