Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | aniridia | | ISO | KIF21A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Congenital aniridia | ClinVar | PMID:26893459 | congenital fibrosis of the extraocular muscles | | ISO | KIF21A (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:14595441 more ... | congenital fibrosis of the extraocular muscles 1 | | ISO | KIF21A (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10922204 more ... | genetic disease | | ISO | KIF21A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25741868 and PMID:28492532 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
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Imported Disease Annotations - OMIM
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References
References - curated
| # | Reference Title | Reference Citation |
| 1. | Functional annotation of a full-length mouse cDNA collection. | Kawai J, etal., Nature. 2001 Feb 8;409(6821):685-90. |
| 2. | Electronic Transfer of Homolog Data | MGD and Homologene mouse data transfer |
| 3. | MGDs mouse GO annotations | MGD data from the GO Consortium |
| 4. | All kinesin superfamily protein, KIF, genes in mouse and human. | Miki H, etal., Proc Natl Acad Sci U S A 2001 Jun 19;98(13):7004-11. |
| 5. | Prediction of the coding sequences of mouse homologues of KIAA gene: III. the complete nucleotide sequences of 500 mouse KIAA-homologous cDNAs identified by screening of terminal sequences of cDNA clones randomly sampled from size-fractionated libraries. | Okazaki N, etal., DNA Res 2003 Aug 31;10(4):167-80. |
| 6. | Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. | Okazaki Y, etal., Nature. 2002 Dec 5;420(6915):563-73. |
| 7. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
| 8. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 9. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
| 10. | Database resources of the National Center for Biotechnology Information. | Wheeler DL, etal., Nucleic Acids Res 2001 Jan 1;29(1):11-6. |
| 11. | Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1). | Yamada K, etal., Nat Genet. 2003 Dec;35(4):318-21. Epub 2003 Nov 2. |
Additional References at PubMed
| PMID:8889548 | PMID:10225949 | PMID:10349636 | PMID:10719795 | PMID:11042159 | PMID:11076861 | PMID:12477932 | PMID:14610273 | PMID:15489334 | PMID:16141072 | PMID:16141073 | PMID:16512683 |
| PMID:17511870 | PMID:21267068 | PMID:21873635 | PMID:22442075 | PMID:22465342 | PMID:22794259 | PMID:24194600 | PMID:24656932 | PMID:27565344 | PMID:28671696 | PMID:29158259 | PMID:30110642 |
| PMID:32325033 | PMID:32492419 |
Genomics
Comparative Map Data
| Kif21a (Mus musculus - house mouse) |
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| KIF21A (Homo sapiens - human) |
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| Kif21a (Rattus norvegicus - Norway rat) |
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| Kif21a (Chinchilla lanigera - long-tailed chinchilla) |
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| KIF21A (Pan paniscus - bonobo/pygmy chimpanzee) |
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| KIF21A (Canis lupus familiaris - dog) |
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| Kif21a (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| KIF21A (Sus scrofa - pig) |
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| KIF21A (Chlorocebus sabaeus - green monkey) |
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| Kif21a (Heterocephalus glaber - naked mole-rat) |
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Variants
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Variants in Kif21a
4740 total Variants 
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