Imported Disease Annotations - ClinVarObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Atp6v0c | Mouse | developmental and epileptic encephalopathy 1 | | ISO | ATP6V0C (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy and 1 | ClinVar | PMID:28492532 | Atp6v0c | Mouse | early-onset epilepsy 3 | | ISO | ATP6V0C (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:25741868 more ... | Atp6v0c | Mouse | epilepsy | | ISO | ATP6V0C (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:25741868 more ... | Atp6v0c | Mouse | idiopathic generalized epilepsy | | ISO | ATP6V0C (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Idiopathic generalized epilepsy | ClinVar | PMID:28492532 | Atp6v0c | Mouse | short-rib thoracic dysplasia 9 with or without polydactyly | | ISO | ATP6V0C (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Saldino-Mainzer syndrome | ClinVar | PMID:28492532 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - OMIM
Gene-Chemical Interaction Annotations Click to see Annotation Detail View
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Molecular Pathway Annotations Click to see Annotation Detail View
Imported Annotations - KEGG (archival)
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References
References - curated
| # | Reference Title | Reference Citation |
| 1. | Genetic mapping of 262 loci derived from expressed sequences in a murine interspecific cross using single-strand conformational polymorphism analysis. | Brady KP, etal., Genome Res 1997 Nov;7(11):1085-93. |
| 2. | PFKFB2 Promoter Hypomethylation as Recurrence Predictive Marker in Well-Differentiated Thyroid Carcinomas. | Camargo Barros-Filho M, etal., Int J Mol Sci. 2019 Mar 16;20(6). pii: ijms20061334. doi: 10.3390/ijms20061334. |
| 3. | Functional annotation of a full-length mouse cDNA collection. | Kawai J, etal., Nature. 2001 Feb 8;409(6821):685-90. |
| 4. | MGDs mouse GO annotations | MGD data from the GO Consortium |
| 5. | MGD IEA | MGD IEA |
| 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. | KEGG Annotation Import Pipeline | Pipeline to import KEGG annotations from KEGG into RGD |
| 8. | Mouse MP Annotation Import Pipeline | RGD automated import pipeline |
| 9. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
Additional References at PubMed
| PMID:1828149 | PMID:8741845 | PMID:9600738 | PMID:10349636 | PMID:10556625 | PMID:10922068 | PMID:11042159 | PMID:11076861 | PMID:11112332 | PMID:11172053 | PMID:11441017 | PMID:11595166 |
| PMID:12133826 | PMID:12374761 | PMID:12438748 | PMID:12477932 | PMID:12904583 | PMID:12947086 | PMID:12963731 | PMID:14610273 | PMID:14681479 | PMID:15747579 | PMID:15782199 | PMID:16141072 |
| PMID:16141073 | PMID:16602821 | PMID:17497178 | PMID:18799693 | PMID:20093472 | PMID:21267068 | PMID:21873635 | PMID:22496890 | PMID:24166050 | PMID:24457600 | PMID:24803591 | PMID:28793259 |
| PMID:31471894 | PMID:33760820 | PMID:34588579 | PMID:36293380 | PMID:36808153 | PMID:37142655 | PMID:37758766 | PMID:38481802 |
Genomics
Comparative Map Data
| Atp6v0c (Mus musculus - house mouse) |
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| ATP6V0C (Homo sapiens - human) |
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| Atp6v0c (Rattus norvegicus - Norway rat) |
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| Atp6v0c (Chinchilla lanigera - long-tailed chinchilla) |
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| ATP6V0C (Pan paniscus - bonobo/pygmy chimpanzee) |
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| ATP6V0C (Canis lupus familiaris - dog) |
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| Atp6v0c (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| ATP6V0C (Sus scrofa - pig) |
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| ATP6V0C (Chlorocebus sabaeus - green monkey) |
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| Atp6v0c (Heterocephalus glaber - naked mole-rat) |
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Variants
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Variants in Atp6v0c
229 total Variants 
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