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GENE - TERM ANNOTATION REPORT

RGD ID: 735088
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Flcn
Name: folliculin
Acc ID: DOID:0060853
Term: Potocki-Lupski syndrome
Definition: A chromosomal duplication syndrome characterized by hypotonia, failure to thrive, mental retardation, pervasive developmental disorders and congenital anomalies that has_material_basis_in contiguous gene syndrome caused by duplication of chromosome 17p11.2. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/10615134 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/20425816 "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)
Flcn ISOFLCN (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Flcn ISOFLCN (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Potocki-Lupski syndrome | ClinVar Annotator: match by term: Potocki-Lupski syndrome (dup(17)(p11.2p11.2))PMID:12204536 PMID:12471204 PMID:15852235 PMID:16199547 PMID:17496196 PMID:18234728 PMID:18505456 PMID:19116017 PMID:19562744 PMID:20301695 PMID:20522427 PMID:21538689 PMID:23757202 PMID:23784378 PMID:24728327 PMID:25326637 PMID:25519458 PMID:25610687 PMID:25741868 PMID:25827758 PMID:26028485 PMID:26402642 PMID:26467025 PMID:26659639 PMID:27153395 PMID:27220747 PMID:27734835 PMID:27905298 PMID:28492532 PMID:28837307 PMID:28839995 PMID:29357828 PMID:29548312 PMID:30360018 PMID:31471370 PMID:31958439 PMID:32091409 PMID:33137092 PMID:33294559 PMID:34008892 PMID:34229741 PMID:34326862 PMID:34654685 PMID:35221599 PMID:35441217 PMID:35578266 PMID:35639097 PMID:35946080
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