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GENE - TERM ANNOTATION REPORT

RGD ID: 1564611
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Pnpla6
Name: patatin-like phospholipase domain containing 6
Acc ID: DOID:1930
Term: Laurence-Moon syndrome
Definition: A syndrome characterized by pituitary dysfunction, childhood onset ataxia, peripheral neuropathy, spastic paraplegia, and chorioretinopathy that has_material_basis_in homozygous or compound heterozygous mutation in the PNPLA6 gene on chromosome 19p13.2. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/25480986 "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)
Pnpla6 ISOPNPLA6 (Homo sapiens)7240710OMIM  
Pnpla6 ISOPNPLA6 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Pnpla6 ISOPNPLA6 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Laurence-Moon syndromePMID:18313024 PMID:20603202 PMID:23733235 PMID:24355708 PMID:25299038 PMID:25480986 PMID:25574898 PMID:25741868 PMID:26467025 PMID:28492532 PMID:31135245 PMID:3963113 PMID:8053762
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