MCID: MCR041

Macrothrombocytopenia Progressive Deafness malady

Rare diseases, Ear diseases, Blood diseases categories

Summaries for Macrothrombocytopenia Progressive Deafness

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MalaCards based summary: Macrothrombocytopenia Progressive Deafness, is also known as macrothrombocytopenia and progressive sensorineural deafness An important gene associated with Macrothrombocytopenia Progressive Deafness is MYH9 (myosin, heavy chain 9, non-muscle).

Aliases & Classifications for Macrothrombocytopenia Progressive Deafness

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Macrothrombocytopenia Progressive Deafness, Aliases & Descriptions:

Name: Macrothrombocytopenia Progressive Deafness 41
Macrothrombocytopenia and Progressive Sensorineural Deafness 60
 
Brodie Chole Griffin Syndrome 41


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Ear diseases, Blood diseases


Related Diseases for Macrothrombocytopenia Progressive Deafness

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Symptoms for Macrothrombocytopenia Progressive Deafness

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Drugs & Therapeutics for Macrothrombocytopenia Progressive Deafness

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Drug clinical trials:

Search ClinicalTrials for Macrothrombocytopenia Progressive Deafness

Search NIH Clinical Center for Macrothrombocytopenia Progressive Deafness

Genetic Tests for Macrothrombocytopenia Progressive Deafness

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Anatomical Context for Macrothrombocytopenia Progressive Deafness

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Animal Models for Macrothrombocytopenia Progressive Deafness or affiliated genes

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Publications for Macrothrombocytopenia Progressive Deafness

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Variations for Macrothrombocytopenia Progressive Deafness

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Clinvar genetic disease variations for Macrothrombocytopenia Progressive Deafness:

6
id Gene Variation Type Significance SNP ID Assembly Location
1MYH9NM_002473.4(MYH9): c.4270G> A (p.Asp1424Asn)single nucleotide variantPathogenicrs80338831GRCh37Chr 22, 36688106: 36688106

Expression for genes affiliated with Macrothrombocytopenia Progressive Deafness

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Search GEO for disease gene expression data for Macrothrombocytopenia Progressive Deafness.

Pathways for genes affiliated with Macrothrombocytopenia Progressive Deafness

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Compounds for genes affiliated with Macrothrombocytopenia Progressive Deafness

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GO Terms for genes affiliated with Macrothrombocytopenia Progressive Deafness

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Products for genes affiliated with Macrothrombocytopenia Progressive Deafness

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Macrothrombocytopenia Progressive Deafness

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet