Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | genetic disease | | ISO | CIT (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25741868 more ... | intellectual disability | | ISO | CIT (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | | long QT syndrome | | ISO | CIT (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Long QT syndrome | ClinVar | PMID:26132555 | Marfanoid Mental Retardation Syndrome, Autosomal | | ISO | CIT (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability | ClinVar | PMID:25741868 | primary autosomal recessive microcephaly | | ISO | CIT (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive primary microcephaly | ClinVar | PMID:25741915 more ... | primary autosomal recessive microcephaly 17 | | ISO | CIT (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Microcephaly 17 more ... | ClinVar | PMID:25741868 more ... | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
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References
References - curated
| # | Reference Title | Reference Citation |
| 1. | CIT, a gene involved in neurogenic cytokinesis, is mutated in human primary microcephaly. | Basit S, etal., Hum Genet. 2016 Oct;135(10):1199-207. doi: 10.1007/s00439-016-1724-0. Epub 2016 Aug 12. |
| 2. | Citron-N is a neuronal Rho-associated protein involved in Golgi organization through actin cytoskeleton regulation. | Camera P, etal., Nat Cell Biol 2003 Dec;5(12):1071-8. Epub 2003 Nov 2. |
| 3. | Defective neurogenesis in citron kinase knockout mice by altered cytokinesis and massive apoptosis. | Di Cunto F, etal., Neuron 2000 Oct;28(1):115-27. |
| 4. | Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. | Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27. |
| 5. | Citron Kinase Is a Cell Cycle-dependent, Nuclear Protein Required for G2/M Transition of Hepatocytes. | Liu H, etal., J Biol Chem 2003 Jan 24;278(4):2541-2548. |
| 6. | Citron kinase is a cell cycle-dependent, nuclear protein required for G2/M transition of hepatocytes. | Liu H, etal., J Biol Chem 2003 Jan 24;278(4):2541-8. |
| 7. | Gene Data Set | MGD Curation, June 12, 2002 |
| 8. | Rat ISS GO annotations from MGI mouse gene data--August 2006 | MGD data from the GO Consortium |
| 9. | Electronic Transfer of LocusLink and RefSeq Data | NCBI rat LocusLink and RefSeq merged data July 26, 2002 |
| 10. | ASPM and citron kinase co-localize to the midbody ring during cytokinesis. | Paramasivam M, etal., Cell Cycle. 2007 Jul 1;6(13):1605-12. Epub 2007 Apr 27. |
| 11. | Traumatic brain injury-induced acute gene expression changes in rat cerebral cortex identified by GeneChip analysis. | Raghavendra Rao VL, etal., J Neurosci Res. 2003 Jan 15;71(2):208-19. |
| 12. | GOA pipeline | RGD automated data pipeline |
| 13. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 14. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
| 15. | Information Derived from GenBank Report | RGD, Sept. 2003 |
| 16. | Characterization of seizures in the flathead rat: a new genetic model of epilepsy in early postnatal development. | Sarkisian MR, etal., Epilepsia. 1999 Apr;40(4):394-400. |
| 17. | Citron-kinase, a protein essential to cytokinesis in neuronal progenitors, is deleted in the flathead mutant rat. | Sarkisian MR, etal., J Neurosci. 2002 Apr 15;22(8):RC217. Epub 2002 Apr 2. |
| 18. | Mutations in CIT, encoding citron rho-interacting serine/threonine kinase, cause severe primary microcephaly in humans. | Shaheen R, etal., Hum Genet. 2016 Oct;135(10):1191-7. doi: 10.1007/s00439-016-1722-2. Epub 2016 Aug 8. |
| 19. | Citron binds to PSD-95 at glutamatergic synapses on inhibitory neurons in the hippocampus. | Zhang W, etal., J Neurosci 1999 Jan 1;19(1):96-108. |
Additional References at PubMed
| PMID:9697773 | PMID:9792683 | PMID:12432070 | PMID:12764032 | PMID:12781320 | PMID:16202622 | PMID:16236794 | PMID:16431929 | PMID:17148954 | PMID:17474715 | PMID:17488780 | PMID:18309323 |
| PMID:19790105 | PMID:19946888 | PMID:20525772 | PMID:20971191 | PMID:25593024 | PMID:27453578 |
Genomics
Comparative Map Data
| Cit (Rattus norvegicus - Norway rat) |
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| CIT (Homo sapiens - human) |
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| Cit (Mus musculus - house mouse) |
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| Cit (Chinchilla lanigera - long-tailed chinchilla) |
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| CIT (Pan paniscus - bonobo/pygmy chimpanzee) |
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| CIT (Canis lupus familiaris - dog) |
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| Cit (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| CIT (Sus scrofa - pig) |
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| CIT (Chlorocebus sabaeus - green monkey) |
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| Cit (Heterocephalus glaber - naked mole-rat) |
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Variants
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Variants in Cit
823 total Variants 
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