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GENE - TERM ANNOTATION REPORT

RGD ID: 1550302
Species: Mus musculus
RGD Object: Gene
Symbol: Cacna1c
Name: calcium channel, voltage-dependent, L type, alpha 1C subunit
Acc ID: DOID:0070536
Term: neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
Definition: An autosomal dominant intellectual developmental disorder characterized by behavioral abnormalities and developmental delay ranging from mild-to-moderate impaired intellectual development with expressive language delay to severly impaired intellectual development, severe hypotonia with delayed walking or inability to walk, and poor or absent speech that has_material_basis_in heterozygous mutation in the CACNA1C gene on chromosome 12p13.33. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/34163037/ "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
Cacna1c ISOCACNA1C (Homo sapiens)7240710OMIM  
Cacna1c ISOCACNA1C (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizuresPMID:15454078 PMID:15863612 PMID:16360093 PMID:17224476 PMID:18250309 PMID:19074970 PMID:20817017 PMID:21307850 PMID:21878566 PMID:21910241 PMID:22581653 PMID:22840528 PMID:23313911 PMID:23578275 PMID:23580742 PMID:23631430 PMID:23678275 PMID:23690510 PMID:23861362 PMID:25260352 PMID:25633834 PMID:25741868 PMID:26227324 PMID:26822303 PMID:27593853 PMID:27662471 PMID:27868338 PMID:28211989 PMID:28371864 PMID:28492532 PMID:28750076 PMID:30513141 PMID:30847666 PMID:34163037 PMID:34999275 PMID:37901857
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