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Aliases for CMT1A Gene

Aliases for CMT1A Gene

  • Charcot-Marie-Tooth Neuropathy 1A (Greatly Reduced Nerve Conduction Velocity, Hereditary Motor Sensory Neuropathy Ia) 2

External Ids for CMT1A Gene

Previous GeneCards Identifiers for CMT1A Gene

  • GC17U990014

Summaries for CMT1A Gene

GeneCards Summary for CMT1A Gene

CMT1A (Charcot-Marie-Tooth Neuropathy 1A (Greatly Reduced Nerve Conduction Velocity, Hereditary Motor Sensory Neuropathy Ia)) is a Genetic Locus. Diseases associated with CMT1A include Charcot-Marie-Tooth Disease, Type 1A and Charcot-Marie-Tooth Disease, Type 1E.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CMT1A Gene

Genomics for CMT1A Gene

Genomic Location for CMT1A Gene

No location information available

Genomic View for CMT1A Gene


Cytogenetic band:
  • 17p13.1-q12 by HGNC

No data available for Regulatory Elements and RefSeq DNA sequence for CMT1A Gene

Proteins for CMT1A Gene

Post-translational modifications for CMT1A Gene

No Post-translational modifications

No data available for DME Specific Peptides for CMT1A Gene

Domains & Families for CMT1A Gene

Graphical View of Domain Structure for InterPro Entry

No data available for Gene Families , Protein Domains , Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for CMT1A Gene

Function for CMT1A Gene

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for CMT1A Gene

Localization for CMT1A Gene

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS and Gene Ontology (GO) - Cellular Components for CMT1A Gene

Pathways & Interactions for CMT1A Gene

SuperPathways for CMT1A Gene

No Data Available

Interacting Proteins for CMT1A Gene

Gene Ontology (GO) - Biological Process for CMT1A Gene

None

No data available for Pathways by source and SIGNOR curated interactions for CMT1A Gene

Drugs & Compounds for CMT1A Gene

No Compound Related Data Available

Expression for CMT1A Gene

No Expression Related Data Available

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for CMT1A Gene

Orthologs for CMT1A Gene

No data available for Orthologs and Evolution for CMT1A Gene

Paralogs for CMT1A Gene

No data available for Paralogs for CMT1A Gene

Variants for CMT1A Gene

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Sequence variations from dbSNP and Humsavar , Structural Variations from Database of Genomic Variants (DGV) , Variation tolerance and Relevant External Links for CMT1A Gene

Disorders for CMT1A Gene

MalaCards: The human disease database

(7) MalaCards diseases for CMT1A Gene - From: OMIM and GeneCards

Disorder Aliases PubMed IDs
charcot-marie-tooth disease, type 1a
  • charcot-marie-tooth disease type 1a
charcot-marie-tooth disease, type 1e
  • charcot-marie-tooth disease type 1
neuropathy, recurrent, with pressure palsies
  • hereditary motor and sensory neuropathy
neuropathy, inflammatory demyelinating
  • inflammatory demyelinating polyneuropathy
roussy-levy syndrome
  • charcot-marie-tooth disease
- elite association - COSMIC cancer census association via MalaCards
Search CMT1A in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with CMT1A: view

No data available for UniProtKB/Swiss-Prot , Genatlas and External Links for CMT1A Gene

Publications for CMT1A Gene

  1. Myelin uncompaction in Charcot-Marie-Tooth neuropathy type 1A with a point mutation of peripheral myelin protein-22. (PMID: 10489052) Fabrizi G.M. … Rizzuto N. (Neurology 1999) 2 67
  2. Prevalence and origin of de novo duplications in Charcot-Marie-Tooth disease type 1A: first report of a de novo duplication with a maternal origin. (PMID: 8644705) Blair I.P. … Nicholson G.A. (Am. J. Hum. Genet. 1996) 2
  3. Genetic basis of inherited peripheral neuropathies. (PMID: 7515304) Suter U. … Patel P.I. (Hum. Mutat. 1994) 2
  4. DNA duplication associated with Charcot-Marie-Tooth disease type 1A. (PMID: 1677316) Lupski J.R. … Patel P.I. (Cell 1991) 2

Products for CMT1A Gene

Sources for CMT1A Gene

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