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GENE - TERM ANNOTATION REPORT

RGD ID: 8847849
Species: Chinchilla lanigera
RGD Object: Gene
Symbol: Gne
Name: glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
Acc ID: DOID:9005679
Term: Thrombocytopenia 12
Definition: An autosomal recessive disorder characterized by congenital thrombocytopenia apparent from infancy or early childhood. Caused by homozygous or compound heterozygous mutation in the GNE gene on chromosome 9p13.
Definition Source(s): MIM:620757
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)
Gne ISOGNE (Homo sapiens)7240710OMIM  
Gne ISOGNE (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Thrombocytopenia 12 with or without myopathyPMID:11528398 PMID:12177386 PMID:12473753 PMID:12473769 PMID:12473780 PMID:12497639 PMID:12743242 PMID:14707127 PMID:14972325 PMID:15136692 PMID:15146476 PMID:15147877 PMID:15670773 PMID:15793292 PMID:15987957 PMID:16112887 PMID:16503651 PMID:16810679 PMID:17261181 PMID:17704511 PMID:18383535 PMID:18555875 PMID:19596068 PMID:19841673 PMID:19917666 PMID:20030229 PMID:20059379 PMID:20175955 PMID:20300792 PMID:20301439 PMID:21131200 PMID:21294420 PMID:21307865 PMID:21517694 PMID:21708040 PMID:21873062 PMID:22196754 PMID:22322304 PMID:22343627 PMID:22507750 PMID:22883483 PMID:23278550 PMID:23437777 PMID:23806237 PMID:23842869 PMID:24005727 PMID:24027297 PMID:24136589 PMID:24474513 PMID:24695763 PMID:24707269 PMID:24796702 PMID:25123033 PMID:25182749 PMID:25303967 PMID:25617006 PMID:25741868 PMID:25986339 PMID:26161358 PMID:26467025 PMID:26968811 PMID:27457812 PMID:27535533 PMID:27829678 PMID:27858732 PMID:28320138 PMID:28403181 PMID:28492532 PMID:28641925 PMID:28717665 PMID:28895049 PMID:29307446 PMID:29480215 PMID:30390020 PMID:30842975 PMID:30990900 PMID:33031330 PMID:33250842 PMID:35138478
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