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GENE - TERM ANNOTATION REPORT

RGD ID: 18561922
Species: Chlorocebus sabaeus
RGD Object: Gene
Symbol: AP4M1
Name: adaptor related protein complex 4 subunit mu 1
Acc ID: DOID:0110802
Term: hereditary spastic paraplegia 50
Definition: A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4M1 gene on chromosome 7q22.1. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/books/NBK535153/ "DO" "DO", PMID:19559397 "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)
AP4M1 ISOAP4M1 (Homo sapiens)7240710OMIM  
AP4M1 ISOAP4M1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: AP-4 deficiency syndrome | ClinVar Annotator: match by term: Hereditary spastic paraplegia 50PMID:16199547 PMID:17576681 PMID:18414213 PMID:21937992 PMID:24700674 PMID:25326635 PMID:25496299 PMID:25558065 PMID:25741868 PMID:26077850 PMID:28464862 PMID:28492532 PMID:28832565 PMID:29096665 PMID:29302074 PMID:29473051 PMID:31230720 PMID:31359954 PMID:31915823 PMID:32979048 PMID:32989326 PMID:33001864 PMID:33813722 PMID:34087981 PMID:36371792 PMID:37486637 PMID:9536098
AP4M1 ISOAP4M1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hereditary spastic paraplegia 50PMID:16199547 PMID:17576681 PMID:18414213 PMID:21937992 PMID:24700674 PMID:25326635 PMID:25496299 PMID:25558065 PMID:25741868 PMID:26077850 PMID:28464862 PMID:28492532 PMID:28832565 PMID:29096665 PMID:29302074 PMID:31230720 PMID:31359954 PMID:32979048 PMID:32989326 PMID:33001864 PMID:33813722 PMID:34087981 PMID:36371792 PMID:9536098
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