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GENE - TERM ANNOTATION REPORT

RGD ID: 2993
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Lcat
Name: lecithin cholesterol acyltransferase
Acc ID: DOID:1391
Term: Norum disease
Definition: An autosomal recessive disorder of lipoprotein metabolism caused by mutation of LECITHIN CHOLESTEROL ACYLTRANSFERASE gene. It is characterized by low HDL-cholesterol levels, and the triad of CORNEAL OPACITIES; HEMOLYTIC ANEMIA; and PROTEINURIA with renal failure.
Definition Source(s): MESH:D007863
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)
Lcat ISOLCAT (Homo sapiens)1581778RGD  
Lcat ISOLCAT (Homo sapiens)7240710OMIM  
Lcat ISOLCAT (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Lcat ISOLCAT (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Alpha-lecithin cholesterol acyltransferase deficiency | ClinVar Annotator: match by term: Fish-eye disease | ClinVar Annotator: match by term: LCAT deficiency | ClinVar Annotator: match by term: LCAT-related condition | ClinVar Annotator: match by term: Norum diseasePMID:1516702 PMID:15297675 PMID:1571050 PMID:1588268 PMID:15994445 PMID:1662503 PMID:1681161 PMID:1737840 PMID:17526537 PMID:1859405 PMID:19687369 PMID:2052566 PMID:21600519 PMID:21875686 PMID:21901787 PMID:22090275 PMID:22189200 PMID:22629316 PMID:22701329 PMID:22923420 PMID:23236364 PMID:2370048 PMID:24503134 PMID:24507774 PMID:24636183 PMID:24715031 PMID:25727495 PMID:25741868 PMID:25948084 PMID:26195816 PMID:28492532 PMID:28870971 PMID:28983876 PMID:29030428 PMID:29083407 PMID:30333156 PMID:31164121 PMID:32041611 PMID:33816482 PMID:6078131 PMID:6624548 PMID:7613477 PMID:8432868 PMID:8620346 PMID:8675648 PMID:8755645 PMID:8807342 PMID:9101439 PMID:9261271 PMID:9541390 PMID:9741700
Lcat ISSLcat (Mus musculus)13592920MouseDOOMIM:245900 
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