MCID: CCH001
MIFTS: 29

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 albinism, ocular, with late-onset sensorineural deafness and malignant spindle cell melanoma. An important gene associated with Cochlear Disease is EDN3 (Endothelin 3), and among its related pathways/superpathways are Endothelins and Neural Crest Differentiation. Affiliated tissues include colon and breast, and related phenotypes are behavior/neurological and digestive/alimentary

Wikipedia : 76 The cochlea is the part of the inner ear involved in hearing. It is a spiral-shaped cavity in the bony... more...

Related Diseases for Cochlear Disease

Diseases related to Cochlear Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 30)
# Related Disease Score Top Affiliating Genes
1 albinism, ocular, with late-onset sensorineural deafness 10.1 MITF SOX10
2 malignant spindle cell melanoma 10.1 MITF SOX10
3 breast angiosarcoma 10.1 MITF SOX10
4 tietz albinism-deafness syndrome 10.1 MITF SOX10
5 goldberg-shprintzen syndrome 10.1 EDN3 EDNRB
6 deafness, autosomal dominant 6 10.1 MITF SLC26A4
7 neurofibroma 10.1 MITF SOX10
8 waardenburg syndrome, type 3 10.0 EDN3 MITF SOX10
9 dyschromatosis symmetrica hereditaria 10.0 EDN3 MITF SOX10
10 intestinal pseudo-obstruction 10.0 EDNRB SOX10
11 megacolon 10.0 EDN3 EDNRB SOX10
12 colonic disease 10.0 EDN3 EDNRB SOX10
13 ecthyma 10.0 GATA3 KANTR
14 intestinal obstruction 10.0 EDN3 EDNRB
15 dopamine beta-hydroxylase deficiency, congenital 10.0 GATA3 KANTR
16 gastric signet ring cell adenocarcinoma 10.0 GATA3 SNAI2
17 piebald trait 9.9 MITF SNAI2
18 erythema elevatum diutinum 9.9 GATA3 TNFRSF1B
19 pendred syndrome 9.9 MITF SLC26A4
20 sciatic neuropathy 9.9 KANTR TNFRSF1B
21 chronic salpingitis 9.9 KANTR TNFRSF1B
22 waardenburg syndrome type 4 9.9 EDN3 EDNRB MITF SOX10
23 waardenburg syndrome, type 4a 9.9 EDN3 EDNRB MITF SOX10
24 hirschsprung disease 1 9.9 EDN3 EDNRB MITF SOX10
25 waardenburg syndrome, type 2e 9.8 EDNRB MITF SNAI2 SOX10
26 waardenburg syndrome, type 4b 9.7 EDN3 EDNRB MITF SNAI2 SOX10
27 peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease 9.6 EDN3 EDNRB MITF SNAI2 SOX10
28 waardenburg syndrome, type 2a 9.6 EDN3 EDNRB MITF SNAI2 SOX10
29 waardenburg syndrome, type 1 9.6 EDN3 EDNRB MITF SNAI2 SOX10
30 waardenburg's syndrome 9.6 EDN3 EDNRB MITF SNAI2 SOX10

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 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.14 EDN3 EDNRB MITF PTGER4 SLC26A4 SNAI2
2 digestive/alimentary MP:0005381 10.05 EDN3 EDNRB GATA3 SLC26A4 SNAI2 SOX10
3 homeostasis/metabolism MP:0005376 10.03 EDNRB GATA3 MITF PTGER4 SLC26A4 SNAI2
4 endocrine/exocrine gland MP:0005379 10.02 EDNRB GATA3 MITF SLC26A4 SNAI2 SOX10
5 embryo MP:0005380 9.97 EDN3 EDNRB GATA3 MITF SNAI2 SOX10
6 integument MP:0010771 9.97 EDN3 EDNRB GATA3 MITF PTGER4 SNAI2
7 immune system MP:0005387 9.95 EDNRB GATA3 MITF PTGER4 SLC26A4 SNAI2
8 craniofacial MP:0005382 9.92 EDNRB GATA3 MITF SNAI2 TNFRSF1B
9 mortality/aging MP:0010768 9.92 EDN3 EDNRB GATA3 MITF PTGER4 SNAI2
10 nervous system MP:0003631 9.86 EDN3 EDNRB GATA3 MITF SLC26A4 SNAI2
11 hearing/vestibular/ear MP:0005377 9.76 EDNRB GATA3 MITF SLC26A4
12 pigmentation MP:0001186 9.7 EDN3 EDNRB GATA3 MITF SLC26A4 SNAI2
13 skeleton MP:0005390 9.5 EDNRB GATA3 MITF PTGER4 SLC26A4 SNAI2
14 vision/eye MP:0005391 9.02 EDNRB GATA3 MITF SNAI2 TNFRSF1B

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

MalaCards organs/tissues related to Cochlear Disease:

41
Colon, Breast

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 10.98 EDN3 EDNRB
2 10.81 MITF SNAI2 SOX10
3 10.77 MITF SOX10
4 10.43 EDNRB PTGER4

GO Terms for Cochlear Disease

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription by RNA polymerase II GO:0000122 9.87 EDNRB GATA3 MITF SNAI2
2 negative regulation of apoptotic process GO:0043066 9.8 EDNRB MITF SNAI2 SOX10
3 cell surface receptor signaling pathway GO:0007166 9.72 EDN3 EDNRB TNFRSF1B
4 response to lipopolysaccharide GO:0032496 9.65 EDNRB PTGER4 TNFRSF1B
5 humoral immune response GO:0006959 9.58 GATA3 MITF
6 positive regulation of cell differentiation GO:0045597 9.56 EDN3 GATA3
7 cell maturation GO:0048469 9.54 GATA3 SOX10
8 developmental growth GO:0048589 9.52 GATA3 SOX10
9 peripheral nervous system development GO:0007422 9.51 EDNRB SOX10
10 negative regulation of inflammatory response GO:0050728 9.5 GATA3 PTGER4 TNFRSF1B
11 aortic valve morphogenesis GO:0003180 9.46 GATA3 SNAI2
12 regulation of pH GO:0006885 9.43 EDNRB SLC26A4
13 vasoconstriction GO:0042310 9.4 EDN3 EDNRB
14 enteric nervous system development GO:0048484 9.37 EDNRB SOX10
15 neural crest cell migration GO:0001755 9.33 EDN3 EDNRB SOX10
16 vein smooth muscle contraction GO:0014826 9.26 EDN3 EDNRB
17 pigmentation GO:0043473 9.13 EDNRB MITF SNAI2
18 melanocyte differentiation GO:0030318 8.92 EDN3 EDNRB MITF SOX10

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

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity GO:0003700 9.46 GATA3 MITF SNAI2 SOX10
2 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding GO:0003705 9.13 MITF SNAI2 SOX10
3 E-box binding GO:0070888 8.8 GATA3 MITF SNAI2

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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