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GENE - TERM ANNOTATION REPORT

RGD ID: 621295
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Mvk
Name: mevalonate kinase
Acc ID: DOID:2935
Term: Chediak-Higashi syndrome
Definition: A syndrome characterized by oculocutaneous albinism, immune deficiency, coagulation deficiency and neuropathy and that has_material_basis_in homozygous or compound heterozygous mutation in the lysosomal trafficking regulator gene (LYST) on chromosome 1q42. (DO)
Definition Source(s): http://ghr.nlm.nih.gov/condition/chediak-higashi-syndrome "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/25129365 "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)
Mvk ISOMVK (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Autoinflammatory syndromePMID:10369261 PMID:10369262 PMID:10401001 PMID:10417275 PMID:11111075 PMID:11313769 PMID:12444096 PMID:12634869 PMID:1377680 PMID:15149516 PMID:15188372 PMID:15536479 PMID:16255052 PMID:16835861 PMID:17105862 PMID:18414213 PMID:18839211 PMID:19011501 PMID:20194276 PMID:21228398 PMID:21425920 PMID:22038276 PMID:22246419 PMID:23006543 PMID:23692791 PMID:23834120 PMID:23979089 PMID:24033266 PMID:24084495 PMID:24088041 PMID:24177804 PMID:24233262 PMID:24360083 PMID:24411001 PMID:24470648 PMID:24561416 PMID:24656624 PMID:25708585 PMID:25741868 PMID:25866490 PMID:26116953 PMID:26299986 PMID:26409462 PMID:26633545 PMID:26977311 PMID:26986117 PMID:27142780 PMID:27213830 PMID:28359055 PMID:28492532 PMID:28638818 PMID:29047407 PMID:29290516 PMID:31474985 PMID:32060250 PMID:32822427 PMID:33917151 PMID:34145613 PMID:35387795
Mvk ISOMVK (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndromePMID:10369261 PMID:10369262 PMID:10401001 PMID:10417275 PMID:10896296 PMID:11111075 PMID:11313769 PMID:12444096 PMID:12634869 PMID:15149516 PMID:15188372 PMID:15536479 PMID:16234278 PMID:16255052 PMID:16835861 PMID:17105862 PMID:18414213 PMID:18839211 PMID:19011501 PMID:20194276 PMID:21228398 PMID:21425920 PMID:21630610 PMID:22038276 PMID:22246419 PMID:23006543 PMID:23692791 PMID:23834120 PMID:23979089 PMID:24033266 PMID:24084495 PMID:24088041 PMID:24177804 PMID:24233262 PMID:24360083 PMID:24411001 PMID:24470648 PMID:24561416 PMID:24656624 PMID:25677409 PMID:25708585 PMID:25741868 PMID:25866490 PMID:26116953 PMID:26299986 PMID:26409462 PMID:26633545 PMID:26977311 PMID:26986117 PMID:27012807 PMID:27142780 PMID:27213830 PMID:27387687 PMID:27612399 PMID:28359055 PMID:28492532 PMID:28638818 PMID:29047407 PMID:29290516 PMID:29624229 PMID:30597534 PMID:31474985 PMID:32060250 PMID:32199921 PMID:32441320 PMID:32822427 PMID:33917151 PMID:34145613 PMID:34525209 PMID:34809655 PMID:35387795
Mvk ISOMVK (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndromePMID:10369261 PMID:10369262 PMID:10401001 PMID:10417275 PMID:11111075 PMID:11313769 PMID:12444096 PMID:12634869 PMID:1377680 PMID:15536479 PMID:16255052 PMID:16835861 PMID:17105862 PMID:18414213 PMID:19011501 PMID:21228398 PMID:21425920 PMID:22038276 PMID:22246419 PMID:23006543 PMID:23692791 PMID:23979089 PMID:24033266 PMID:24084495 PMID:24088041 PMID:24177804 PMID:24233262 PMID:24360083 PMID:24411001 PMID:24470648 PMID:24561416 PMID:25708585 PMID:25741868 PMID:25866490 PMID:26116953 PMID:26299986 PMID:26633545 PMID:26977311 PMID:26986117 PMID:27142780 PMID:27213830 PMID:28359055 PMID:28492532 PMID:32822427 PMID:33917151 PMID:35387795
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