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GENE - TERM ANNOTATION REPORT

RGD ID: 1351056
Species: Homo sapiens
RGD Object: Gene
Symbol: PDCD10
Name: programmed cell death 10
Acc ID: DOID:0060671
Term: cerebral cavernous malformation 3
Definition: A cerebral cavernous malformation that has_material_basis_in mutation in the PDCD10 gene on chromosome 3q26.1. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/15543491 "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
PDCD10 IAGP 329961304RGDDNA:deletions, nonsense mutations:multiple (human) 
PDCD10 IAGP 401827102RGDDNA:mutations:SNPs, duplications, deletions:multiple (human) 
PDCD10 IAGP 401827103RGDDNA:nonsense mutation, frameshift mutations:CDS:multiple (human) 
PDCD10 IAGP 401827108RGDDNA:SNPs:promoter: (rs9853967, rs11714980) (human) 
PDCD10 IAGP 401827173RGDDNA:deletion:CDS:c.506delA (human) 
PDCD10exacerbatesIAGP 401827114RGDDNA:mutations:multiple (human) 
PDCD10onsetIAGP 401827115RGDDNA:mutations:multiple (human) 
PDCD10 IAGP 7240710OMIM  
PDCD10 EXP 11554173CTDCTD Direct Evidence: marker/mechanism 
PDCD10 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cerebral cavernous malformation 3 
PDCD10 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cerebral cavernous malformation 3PMID:28492532
PDCD10 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cerebral cavernous malformations 3PMID:25741868 PMID:28492532
PDCD10 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cerebral cavernous malformation 3PMID:25741868
PDCD10 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cerebral cavernous malformation 3PMID:25122144 PMID:28492532
PDCD10 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cerebral cavernous malformation 3PMID:15543491 PMID:28492532 PMID:30161288
PDCD10 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cerebral cavernous malformation 3PMID:15543491 PMID:18300272 PMID:23595507 PMID:23801932 PMID:28492532
PDCD10 IAGP (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cerebral cavernous malformation 3PMID:17576681 PMID:24689081 PMID:28492532 PMID:9536098
PDCD10 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cerebral cavernous malformation 3PMID:15543491 PMID:18300272 PMID:23801932 PMID:28492532
PDCD10 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cerebral cavernous malformation 3PMID:15543491 PMID:18035376 PMID:18300272 PMID:23485406 PMID:23595507 PMID:23801932 PMID:25741868 PMID:26896283 PMID:28492532
PDCD10 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cerebral cavernous malformations 3PMID:15543491 PMID:18300272 PMID:23801932 PMID:25354366 PMID:25741868 PMID:28492532
PDCD10 IAGP (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cerebral cavernous malformation 3PMID:15543491 PMID:23801932 PMID:28492532
PDCD10 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cerebral cavernous malformations 3PMID:16329096 PMID:17576681 PMID:24466005 PMID:25122144 PMID:25741868 PMID:28492532 PMID:9536098
PDCD10 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cerebral cavernous malformation 3PMID:15543491 PMID:23801932 PMID:25741868 PMID:28492532
PDCD10 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cerebral cavernous malformation 3PMID:17576681 PMID:28492532 PMID:9536098
PDCD10 IAGP (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cerebral cavernous malformation 3PMID:15543491 PMID:25741868 PMID:28492532 PMID:30161288
PDCD10 IAGP (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cerebral cavernous malformation 3PMID:15543491 PMID:17576681 PMID:23801932 PMID:28492532 PMID:30161288 PMID:9536098
PDCD10 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cerebral cavernous malformation 3PMID:15543491 PMID:18300272 PMID:23801932 PMID:24466005 PMID:28492532
PDCD10 IAGP (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cerebral cavernous malformation 3PMID:15543491 PMID:23595507 PMID:23801932 PMID:28492532
PDCD10 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cerebral cavernous malformation 3PMID:15543491 PMID:18300272 PMID:23801932 PMID:25354366 PMID:28492532
PDCD10 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cerebral cavernous malformation 3PMID:15543491 PMID:18300272 PMID:23801932 PMID:24689081 PMID:26246098 PMID:28492532
PDCD10 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cerebral cavernous malformation 3PMID:15543491 PMID:16199547 PMID:18300272 PMID:23801932 PMID:28492532
PDCD10 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cerebral cavernous malformation 3PMID:23595507 PMID:25741868
PDCD10 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cerebral cavernous malformation 3PMID:16329096 PMID:28492532
PDCD10 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cerebral cavernous malformation 3PMID:15543491 PMID:16199547 PMID:16380626 PMID:18300272 PMID:23801932 PMID:28492532
PDCD10 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cerebral cavernous malformation 3PMID:23595507 PMID:28492532
PDCD10 IAGP (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cerebral cavernous malformation 3PMID:15543491
PDCD10 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cerebral cavernous malformation 3PMID:15543491 PMID:25741868
PDCD10 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cerebral cavernous malformation 3PMID:18060436
PDCD10 ISSPdcd10 (Mus musculus)13592920MouseDOOMIM:603285 
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