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GENE - TERM ANNOTATION REPORT

RGD ID: 10857
Species: Mus musculus
RGD Object: Gene
Symbol: Lamp2
Name: lysosomal-associated membrane protein 2
Acc ID: DOID:0050437
Term: Danon disease
Definition: A lysosomal storage disease that is characterized by cardiomyopathy, skeletal myopathy and intellectual disability and has_material_basis_in mutations in the LAMP2 gene. (DO)
Definition Source(s): https://rarediseases.org/rare-diseases/danon-disease/ "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)
Lamp2 ISOLamp2 (Rattus norvegicus)13703117RGDin hemizygote mutant male (LAMP2y/-) 
Lamp2 ISOLAMP2 (Homo sapiens)7240710OMIM  
Lamp2 ISOLAMP2 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Lamp2 ISOLAMP2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Danon disease | ClinVar Annotator: match by term: Glycogen Storage Disease Type IIb | ClinVar Annotator: match by term: LAMP2-related conditionPMID:10972294 PMID:12112061 PMID:14598234 PMID:15253947 PMID:15673802 PMID:15792868 PMID:15889279 PMID:15907287 PMID:16144992 PMID:16190986 PMID:16199547 PMID:16217705 PMID:16565504 PMID:17576681 PMID:17899313 PMID:18061453 PMID:18282207 PMID:18312451 PMID:18555174 PMID:18990578 PMID:19318653 PMID:19373884 PMID:19533775 PMID:20173215 PMID:20445193 PMID:20960602 PMID:21161685 PMID:21415759 PMID:21520333 PMID:21896538 PMID:22074992 PMID:22695892 PMID:23168931 PMID:23262972 PMID:23785128 PMID:23955649 PMID:24033266 PMID:24503780 PMID:24691104 PMID:25091525 PMID:25326635 PMID:25458169 PMID:25525159 PMID:25611685 PMID:25640679 PMID:25741868 PMID:25741889 PMID:26748608 PMID:27179547 PMID:27460667 PMID:27532257 PMID:27600940 PMID:27678261 PMID:27816333 PMID:28255936 PMID:28491796 PMID:28492532 PMID:28771489 PMID:28822614 PMID:28874292 PMID:29463847 PMID:29637036 PMID:29753918 PMID:29875424 PMID:29915097 PMID:29961767 PMID:30019023 PMID:30108015 PMID:30847666 PMID:3087571 PMID:30959184 PMID:30984009 PMID:31464081 PMID:31638414 PMID:31690835 PMID:31729179 PMID:32150461 PMID:33226119 PMID:33495597 PMID:34459252 PMID:34906502 PMID:37277924 PMID:38246647 PMID:39481677 PMID:6408499 PMID:6450334 PMID:8504498 PMID:9536098
Lamp2 IAGP 13592920MouseDOOMIM:300257 
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