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GENE - TERM ANNOTATION REPORT

RGD ID: 621425
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Ptch1
Name: patched 1
Acc ID: DOID:4621
Term: holoprosencephaly
Definition: A congenital nervous system abnormality characterized by failed or incomplete separation of the forebrain early in gestation; it is accompanied by a spectrum of characteristic craniofacial anomalies. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Holoprosencephaly "DO" "DO", http://www.ncbi.nlm.nih.gov/books/NBK1530/ "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)
Ptch1 ISOPTCH1 (Homo sapiens)12798567RGDDNA:missense mutations:exon:multiple 
Ptch1 ISOPTCH1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Holoprosencephaly | ClinVar Annotator: match by term: Holoprosencephaly sequencePMID:11941477 PMID:17001668 PMID:21188540 PMID:22703879 PMID:22820256 PMID:24055113 PMID:24728327 PMID:25637381 PMID:25741868 PMID:26467025 PMID:26489027 PMID:26893459 PMID:27153395 PMID:28492532 PMID:8302318
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