MCID: CCH001
MIFTS: 26

Cochlear Disease

Categories: Ear diseases

Aliases & Classifications for Cochlear Disease

MalaCards integrated aliases for Cochlear Disease:

Name: Cochlear Disease 12 15
Cochlear Diseases 44 73

Classifications:



External Ids:

Disease Ontology 12 DOID:5463
MeSH 44 D015834
UMLS 73 C0009197

Summaries for Cochlear Disease

MalaCards based summary : Cochlear Disease, also known as cochlear diseases, is related to malignant spindle cell melanoma and breast angiosarcoma. An important gene associated with Cochlear Disease is EDN3 (Endothelin 3), and among its related pathways/superpathways are Regulation of retinoblastoma protein and Endothelins. Related phenotypes are behavior/neurological and digestive/alimentary

Related Diseases for Cochlear Disease

Graphical network of the top 20 diseases related to Cochlear Disease:



Diseases related to Cochlear Disease

Symptoms & Phenotypes for Cochlear Disease

MGI Mouse Phenotypes related to Cochlear Disease:

46 (show all 20)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.24 EDN3 EDNRB MITF PAX3 SLC26A4 SNAI2
2 digestive/alimentary MP:0005381 10.17 GATA3 EDN3 EDNRB PAX3 SLC26A4 SNAI2
3 homeostasis/metabolism MP:0005376 10.16 GATA3 EDNRB MITF SLC26A4 PAX3 SNAI2
4 endocrine/exocrine gland MP:0005379 10.15 GATA3 EDNRB MITF PAX3 SLC26A4 SNAI2
5 cellular MP:0005384 10.13 GATA3 EDNRB MITF PTGER4 PAX3 SOX10
6 integument MP:0010771 10.13 EDN3 EDNRB MITF GATA3 PAX3 SNAI2
7 mortality/aging MP:0010768 10.11 EDN3 GATA3 EDNRB MITF PAX3 SNAI2
8 embryo MP:0005380 10.1 GATA3 EDN3 EDNRB MITF PAX3 SNAI2
9 immune system MP:0005387 10.1 GATA3 EDNRB MITF SLC26A4 PAX3 SNAI2
10 hematopoietic system MP:0005397 10.07 GATA3 EDNRB MITF PTGER4 PAX3 TNFRSF1B
11 craniofacial MP:0005382 10.05 GATA3 EDNRB MITF PAX3 SNAI2 TNFRSF1B
12 nervous system MP:0003631 10.02 GATA3 EDN3 EDNRB MITF PAX3 SLC26A4
13 hearing/vestibular/ear MP:0005377 9.93 GATA3 EDNRB MITF SLC26A4 PAX3
14 pigmentation MP:0001186 9.92 EDNRB MITF GATA3 EDN3 PAX3 SLC26A4
15 muscle MP:0005369 9.83 GATA3 EDNRB PTGER4 PAX3 TNFRSF1B
16 neoplasm MP:0002006 9.8 EDNRB PAX3 PTGER4 SOX10 TNFRSF1B
17 renal/urinary system MP:0005367 9.65 GATA3 EDNRB SLC26A4 PAX3 TNFRSF1B
18 skeleton MP:0005390 9.56 GATA3 EDNRB MITF PAX3 SLC26A4 SNAI2
19 respiratory system MP:0005388 9.55 EDNRB PTGER4 PAX3 SOX10 TNFRSF1B
20 vision/eye MP:0005391 9.1 GATA3 EDNRB PAX3 MITF TNFRSF1B SNAI2

Drugs & Therapeutics for Cochlear Disease

Search Clinical Trials , NIH Clinical Center for Cochlear Disease

Cochrane evidence based reviews: cochlear diseases

Genetic Tests for Cochlear Disease

Anatomical Context for Cochlear Disease

Publications for Cochlear Disease

Articles related to Cochlear Disease:

# Title Authors Year
1
Effects of immunosuppression on the development of cochlear disease in the MRL-Fas(lpr) mouse. ( 10201753 )
1999
2
A new technique for interpreting the BAER in cochlear disease. ( 3377442 )
1988
3
Screening procedure for detection of middle ear and cochlear disease. ( 6778310 )
1980

Variations for Cochlear Disease

Expression for Cochlear Disease

Search GEO for disease gene expression data for Cochlear Disease.

Pathways for Cochlear Disease

Pathways related to Cochlear Disease according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.07 MITF PAX3
2 10.98 EDN3 EDNRB
3 10.93 MITF PAX3 SNAI2 SOX10
4 10.74 MITF PAX3 SOX10
5 10.63 EDNRB PTGER4

GO Terms for Cochlear Disease

Biological processes related to Cochlear Disease according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.85 EDN3 MITF PAX3 SNAI2 TNFRSF1B
2 negative regulation of transcription by RNA polymerase II GO:0000122 9.84 EDNRB GATA3 MITF SNAI2
3 positive regulation of transcription, DNA-templated GO:0045893 9.78 GATA3 MITF PAX3 SOX10
4 cell surface receptor signaling pathway GO:0007166 9.7 EDN3 EDNRB TNFRSF1B
5 response to lipopolysaccharide GO:0032496 9.61 EDNRB PTGER4 TNFRSF1B
6 sensory perception of sound GO:0007605 9.54 PAX3 SLC26A4 SNAI2
7 positive regulation of cell differentiation GO:0045597 9.51 EDN3 GATA3
8 neural crest cell migration GO:0001755 9.49 EDN3 EDNRB
9 negative regulation of inflammatory response GO:0050728 9.43 GATA3 PTGER4 TNFRSF1B
10 regulation of pH GO:0006885 9.4 EDNRB SLC26A4
11 vasoconstriction GO:0042310 9.32 EDN3 EDNRB
12 vein smooth muscle contraction GO:0014826 9.16 EDN3 EDNRB
13 pigmentation GO:0043473 9.13 EDNRB MITF SNAI2
14 melanocyte differentiation GO:0030318 8.8 EDN3 EDNRB MITF

Molecular functions related to Cochlear Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 E-box binding GO:0070888 9.16 GATA3 MITF
2 HMG box domain binding GO:0071837 8.96 GATA3 PAX3
3 chromatin binding GO:0003682 8.92 GATA3 MITF SNAI2 SOX10

Sources for Cochlear Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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