Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | autosomal recessive chronic granulomatous disease 4 | | ISO | FANCA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Granulomatous disease more ... | ClinVar | PMID:28492532 | breast cancer | | ISO | FANCA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Malignant tumor of breast | ClinVar | PMID:24728327 more ... | diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype | | ISO | FANCA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma and H3-wildtype and IDH-wildtype | ClinVar | PMID:25741868 | familial melanoma | | ISO | FANCA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Melanoma more ... | ClinVar | PMID:28492532 | Fanconi anemia | | ISO | FANCA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Fanconi anemia | ClinVar | PMID:08896563 more ... | Fanconi anemia | | ISO | FANCA (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:08896563 more ... | Fanconi anemia | | ISO | FANCA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Fanconi anemia | ClinVar | PMID:08896563 more ... | Fanconi anemia | | ISO | FANCA (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:08896563 more ... | Fanconi anemia | | ISO | FANCA (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:08896563 more ... | Fanconi anemia | | ISO | FANCA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Fanconi anemia | ClinVar | PMID:08896563 more ... | Fanconi anemia | | ISO | FANCA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Fanconi anemia | ClinVar | PMID:08896563 more ... | Fanconi anemia | | ISO | FANCA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Fanconi anemia | ClinVar | PMID:08896563 more ... | Fanconi anemia | | ISO | FANCA (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:08896563 more ... | Fanconi anemia complementation group A | | ISO | FANCA (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:08896563 more ... | genetic disease | | ISO | FANCA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:24728327 more ... | hepatoblastoma | | ISO | FANCA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hepatoblastoma | ClinVar | PMID:24728327 more ... | Hereditary Neoplastic Syndromes | | ISO | FANCA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar | PMID:17924555 more ... | KBG syndrome | | ISO | FANCA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: KBG syndrome | ClinVar | PMID:28492532 and PMID:31602316 | microcephaly | | ISO | FANCA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Microcephaly | ClinVar | PMID:25741868 more ... | neuroblastoma | | ISO | FANCA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neuroblastoma | ClinVar | PMID:15059067 more ... | Neurodevelopmental Disorders | | ISO | FANCA (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:25741868 | ovarian cancer | | ISO | FANCA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Ovarian cancer | ClinVar | PMID:22950077 more ... | Pituitary Stalk Interruption Syndrome | | ISO | FANCA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Pituitary stalk interruption syndrome | ClinVar | PMID:10521298 more ... | primary ciliary dyskinesia 33 | | ISO | FANCA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 | ClinVar | PMID:28492532 | primary ovarian insufficiency | | ISO | FANCA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Premature ovarian failure | ClinVar | PMID:25741868 more ... | prostate cancer | | ISO | FANCA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Malignant tumor of prostate | ClinVar | PMID:10094191 more ... | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
Imported Disease Annotations - MGI
Imported Disease Annotations - OMIM
Gene-Chemical Interaction Annotations Click to see Annotation Detail View
Gene Ontology Annotations Click to see Annotation Detail View
Biological Process
Cellular Component
Molecular Function
Phenotype Annotations Click to see Annotation Detail View
Mammalian Phenotype
Disease Annotations
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Phenotype Annotations
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Mammalian Phenotype
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References
References - curated
| # | Reference Title | Reference Citation |
| 1. | Mutations in Fanconi anemia genes and the risk of esophageal cancer. | Akbari MR, etal., Hum Genet. 2011 May;129(5):573-82. doi: 10.1007/s00439-011-0951-7. Epub 2011 Jan 30. |
| 2. | Fanconi anemia in Tunisia: high prevalence of group A and identification of new FANCA mutations. | Bouchlaka C, etal., J Hum Genet. 2003;48(7):352-61. Epub 2003 Jun 24. |
| 3. | Mice with a targeted disruption of the Fanconi anemia homolog Fanca. | Cheng NC, etal., Hum Mol Genet. 2000 Jul 22;9(12):1805-11. |
| 4. | Association of complementation group and mutation type with clinical outcome in fanconi anemia. European Fanconi Anemia Research Group. | Faivre L, etal., Blood. 2000 Dec 15;96(13):4064-70. |
| 5. | Evaluation of Fanconi anaemia genes FANCA, FANCC and FANCL in cervical cancer susceptibility. | Juko-Pecirep I, etal., Gynecol Oncol. 2011 Aug;122(2):377-81. doi: 10.1016/j.ygyno.2011.04.014. Epub 2011 May 4. |
| 6. | Functional annotation of a full-length mouse cDNA collection. | Kawai J, etal., Nature. 2001 Feb 8;409(6821):685-90. |
| 7. | Fanconi anemia links reactive oxygen species to insulin resistance and obesity. | Li J, etal., Antioxid Redox Signal. 2012 Oct 15;17(8):1083-98. doi: 10.1089/ars.2011.4417. Epub 2012 Jun 25. |
| 8. | Polymorphic variations in the FANCA gene in high-risk non-BRCA1/2 breast cancer individuals from the French Canadian population. | Litim N, etal., Mol Oncol. 2013 Feb;7(1):85-100. doi: 10.1016/j.molonc.2012.08.002. Epub 2012 Sep 11. |
| 9. | MGDs mouse GO annotations | MGD data from the GO Consortium |
| 10. | MGD IEA | MGD IEA |
| 11. | Genetic polymorphisms in 85 DNA repair genes and bladder cancer risk. | Michiels S, etal., Carcinogenesis. 2009 May;30(5):763-8. doi: 10.1093/carcin/bgp046. Epub 2009 Feb 23. |
| 12. | 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. |
| 13. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
| 14. | Polymorphisms within the FANCA gene associate with premature ovarian failure in Korean women. | Pyun JA, etal., Menopause. 2014 May;21(5):530-3. doi: 10.1097/GME.0b013e3182a4323e. |
| 15. | Mouse MP Annotation Import Pipeline | RGD automated import pipeline |
| 16. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 17. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
| 18. | Genetics of the FANCA gene in familial pancreatic cancer. | Rogers CD, etal., J Med Genet. 2004 Dec;41(12):e126. |
| 19. | A novel duplication polymorphism in the FANCA promoter and its association with breast and ovarian cancer. | Thompson E, etal., BMC Cancer. 2005 Apr 29;5:43. |
| 20. | Deletion and reduced expression of the Fanconi anemia FANCA gene in sporadic acute myeloid leukemia. | Tischkowitz MD, etal., Leukemia. 2004 Mar;18(3):420-5. |
| 21. | Common variants in immune and DNA repair genes and risk for human papillomavirus persistence and progression to cervical cancer. | Wang SS, etal., J Infect Dis. 2009 Jan 1;199(1):20-30. doi: 10.1086/595563. |
| 22. | Identification and characterization of novel mutations of the major Fanconi anemia gene FANCA in the Japanese population. | Yagasaki H, etal., Hum Mutat. 2004 Dec;24(6):481-90. |
| 23. | Genetic variants in fanconi anemia pathway genes BRCA2 and FANCA predict melanoma survival. | Yin J, etal., J Invest Dermatol. 2015 Feb;135(2):542-50. doi: 10.1038/jid.2014.416. Epub 2014 Sep 22. |
Additional References at PubMed
| PMID:8889548 | PMID:10349636 | PMID:10397750 | PMID:10725249 | PMID:10754110 | PMID:10936049 | PMID:10951504 | PMID:11042159 | PMID:11076861 | PMID:11918676 | PMID:12135664 | PMID:12360237 |
| PMID:12477932 | PMID:12913077 | PMID:14610273 | PMID:15128600 | PMID:15650050 | PMID:15782199 | PMID:15905196 | PMID:15970507 | PMID:16109778 | PMID:16141072 | PMID:16141073 | PMID:16859999 |
| PMID:16946306 | PMID:18239686 | PMID:18279715 | PMID:18495331 | PMID:18799693 | PMID:21267068 | PMID:21677750 | PMID:21873635 | PMID:22036606 | PMID:22371882 | PMID:22922648 | PMID:23303816 |
| PMID:23926327 | PMID:24501220 | PMID:24799500 | PMID:24966277 | PMID:25155611 | PMID:25261197 | PMID:25707806 | PMID:25917546 | PMID:26123487 | PMID:26212365 | PMID:26366677 | PMID:26410627 |
| PMID:26625197 | PMID:26676373 | PMID:26916217 | PMID:26980189 | PMID:27568523 | PMID:27760317 | PMID:27883081 | PMID:29307578 | PMID:29323295 | PMID:29377497 | PMID:29989666 | PMID:30977208 |
| PMID:31367016 | PMID:31789450 | PMID:31877112 | PMID:32271760 | PMID:32896825 | PMID:33025164 | PMID:33523834 | PMID:34321999 | PMID:35703178 | PMID:36191479 | PMID:37573408 | PMID:37580626 |
Genomics
Comparative Map Data
| Fanca (Mus musculus - house mouse) |
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| FANCA (Homo sapiens - human) |
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| Fanca (Rattus norvegicus - Norway rat) |
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| Fanca (Chinchilla lanigera - long-tailed chinchilla) |
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| FANCA (Pan paniscus - bonobo/pygmy chimpanzee) |
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| FANCA (Canis lupus familiaris - dog) |
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| Fanca (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| FANCA (Sus scrofa - pig) |
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| FANCA (Chlorocebus sabaeus - green monkey) |
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| Fanca (Heterocephalus glaber - naked mole-rat) |
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Variants
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Variants in Fanca
1388 total Variants 
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