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GENE - TERM ANNOTATION REPORT

RGD ID: 1304996
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Kif1a
Name: kinesin family member 1A
Acc ID: DOID:0110781
Term: hereditary spastic paraplegia 30
Definition: A hereditary spastic paraplegia that has_material_basis_in mutation in the KIF1A gene on chromosome 2q37. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/31488895/ "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/21487076 "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)
Kif1a ISOKIF1A (Homo sapiens)12911224RGDDNA:missense mutations: :p.A255V, p.R350G (human) 
Kif1a ISOKIF1A (Homo sapiens)12911228RGDDNA:missense mutation: :p.A255V (human) 
Kif1a ISOKIF1A (Homo sapiens)7240710OMIM  
Kif1a ISOKIF1A (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Kif1a ISOKIF1A (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hereditary spastic paraplegia 30 | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 30, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessivePMID:16081310 PMID:16199547 PMID:16434418 PMID:17576681 PMID:18414213 PMID:20020533 PMID:20691407 PMID:21376300 PMID:21384162 PMID:21487076 PMID:21820098 PMID:22258533 PMID:24088041 PMID:24715439 PMID:25140959 PMID:25253658 PMID:25265257 PMID:25326635 PMID:25533962 PMID:25585697 PMID:25640679 PMID:25741868 PMID:26077850 PMID:26125038 PMID:26350204 PMID:26354034 PMID:26410750 PMID:26467025 PMID:26486474 PMID:26633545 PMID:26752160 PMID:26994895 PMID:27034427 PMID:27124789 PMID:27146152 PMID:27681307 PMID:28106320 PMID:28333917 PMID:28362824 PMID:28492532 PMID:28554332 PMID:28708303 PMID:28832565 PMID:28834584 PMID:28970574 PMID:29159194 PMID:29590070 PMID:29691679 PMID:29915382 PMID:29934652 PMID:30144970 PMID:30385166 PMID:30564185 PMID:30582020 PMID:30778698 PMID:30848064 PMID:31069529 PMID:31227335 PMID:31455732 PMID:31488895 PMID:31616253 PMID:31628766 PMID:31785789 PMID:31796088 PMID:31805580 PMID:31813911 PMID:32096284 PMID:32746806 PMID:32860008 PMID:32935419 PMID:33717719 PMID:33753861 PMID:33880452 PMID:34234304 PMID:34354735 PMID:34356170 PMID:34487232 PMID:34782662 PMID:35132656 PMID:36284339 PMID:9536098
Kif1a ISSKif1a (Mus musculus)13592920MouseDOOMIM:610357 
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