Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | cleft lip | | ISO | PLEKHA7 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cleft lip with or without cleft palate | ClinVar | PMID:29805042 | genetic disease | | ISO | PLEKHA7 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | intellectual disability | | ISO | PLEKHA7 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
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
Molecular Pathway Annotations Click to see Annotation Detail View
Imported Annotations - PID (archival)
Phenotype Annotations Click to see Annotation Detail View
Mammalian Phenotype
Disease Annotations
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Gene-Chemical Interaction Annotations
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Gene Ontology Annotations
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Biological Process
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Cellular Component
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Phenotype Annotations
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Mammalian Phenotype
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References
References - curated
| # | Reference Title | Reference Citation |
| 1. | Mutation of Plekha7 attenuates salt-sensitive hypertension in the rat. | Endres BT, etal., Proc Natl Acad Sci U S A. 2014 Sep 2;111(35):12817-22. doi: 10.1073/pnas.1410745111. Epub 2014 Aug 18. |
| 2. | 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. |
| 3. | PID Annotation Import Pipeline | Pipeline to import Pathway Interaction Database annotations from NCI into RGD |
| 4. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 5. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
| 6. | Comprehensive gene review and curation | RGD comprehensive gene curation |
Additional References at PubMed
| PMID:15632090 | PMID:19041755 | PMID:19056867 | PMID:21454477 | PMID:23990464 | PMID:30463011 |
Genomics
Comparative Map Data
| Plekha7 (Rattus norvegicus - Norway rat) |
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| PLEKHA7 (Homo sapiens - human) |
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| Plekha7 (Mus musculus - house mouse) |
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| Plekha7 (Chinchilla lanigera - long-tailed chinchilla) |
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| PLEKHA7 (Pan paniscus - bonobo/pygmy chimpanzee) |
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| PLEKHA7 (Canis lupus familiaris - dog) |
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| Plekha7 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| PLEKHA7 (Sus scrofa - pig) |
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| PLEKHA7 (Chlorocebus sabaeus - green monkey) |
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| Plekha7 (Heterocephalus glaber - naked mole-rat) |
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Variants
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Variants in Plekha7
1158 total Variants 
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