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GENE - TERM ANNOTATION REPORT

RGD ID: 1563216
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Isca2
Name: iron-sulfur cluster assembly 2
Acc ID: DOID:0080136
Term: multiple mitochondrial dysfunctions syndrome 4
Definition: A multiple mitochondrial dysfunctions syndrome that is characterized by normal development for the first months of life, followed by progressive loss of motor and social skills with hypotonia, spasticity, and nystagmus, resulting in death in early childhood, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the iron-sulfur cluster assembly 2 gene on chromosome 14q24. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/25539947 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/29122497 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/29297947 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/29359243 "DO" "DO", https://www.omim.org/entry/616370 "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)
Isca2 ISOISCA2 (Homo sapiens)7240710OMIM  
Isca2 ISOISCA2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 4PMID:25539947 PMID:25558065 PMID:25741868 PMID:28492532 PMID:28803783 PMID:29122497 PMID:29297947 PMID:29359243 PMID:29470032
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