Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | autism spectrum disorder | | ISO | PTPRT (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autism spectrum disorder | ClinVar | PMID:30504930 | autistic disorder | | ISO | PTPRT (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autism | ClinVar | PMID:21681106 and PMID:30208311 | focal epilepsy | | ISO | PTPRT (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Focal-onset seizure | ClinVar | PMID:32581362 | genetic disease | | ISO | PTPRT (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | intellectual disability | | ISO | PTPRT (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | | schizophrenia | | ISO | PTPRT (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Schizophrenia | ClinVar | PMID:21681106 and PMID:30208311 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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References
References - curated
| # | Reference Title | Reference Citation |
| 1. | PTPRT and PTPRD Deleterious Mutations and Deletion Predict Bevacizumab Resistance in Metastatic Colorectal Cancer Patients. | Hsu HC, etal., Cancers (Basel). 2018 Sep 6;10(9). pii: cancers10090314. doi: 10.3390/cancers10090314. |
| 2. | MGDs mouse GO annotations | MGD data from the GO Consortium |
| 3. | 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. |
| 4. | Mouse MP Annotation Import Pipeline | RGD automated import pipeline |
| 5. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 6. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
| 7. | The Functional Variant in the 3'UTR of PTPRT with the Risk of Esophageal Squamous Cell Carcinoma in a Chinese Population. | Yao Y, etal., Cell Physiol Biochem. 2015;36(1):306-14. doi: 10.1159/000374073. Epub 2015 May 5. |
| 8. | Regulation of paxillin-p130-PI3K-AKT signaling axis by Src and PTPRT impacts colon tumorigenesis. | Zhao Y, etal., Oncotarget. 2017 Jul 25;8(30):48782-48793. doi: 10.18632/oncotarget.10654. |
| 9. | Identification and functional characterization of paxillin as a target of protein tyrosine phosphatase receptor T. | Zhao Y, etal., Proc Natl Acad Sci U S A. 2010 Feb 9;107(6):2592-7. doi: 10.1073/pnas.0914884107. Epub 2010 Jan 21. |
Additional References at PubMed
| PMID:8889548 | PMID:9486824 | PMID:9602027 | PMID:10349636 | PMID:10760573 | PMID:11042159 | PMID:11076861 | PMID:11217851 | PMID:11423001 | PMID:11814386 | PMID:12477932 | PMID:14681479 |
| PMID:15033168 | PMID:16139793 | PMID:16141072 | PMID:16141073 | PMID:16973135 | PMID:17953485 | PMID:18287559 | PMID:18799693 | PMID:20151419 | PMID:21677750 | PMID:21873635 | PMID:22767509 |
| PMID:24154525 | PMID:24895325 | PMID:24949727 | PMID:25826454 | PMID:31065022 | PMID:31944180 | PMID:32938684 | PMID:34321999 | PMID:36583697 |
Genomics
Comparative Map Data
| Ptprt (Mus musculus - house mouse) |
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| PTPRT (Homo sapiens - human) |
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| Ptprt (Rattus norvegicus - Norway rat) |
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| Ptprt (Chinchilla lanigera - long-tailed chinchilla) |
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| PTPRT (Pan paniscus - bonobo/pygmy chimpanzee) |
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| PTPRT (Canis lupus familiaris - dog) |
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| Ptprt (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| PTPRT (Sus scrofa - pig) |
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| PTPRT (Chlorocebus sabaeus - green monkey) |
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| Ptprt (Heterocephalus glaber - naked mole-rat) |
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Variants
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Variants in Ptprt
39768 total Variants 
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