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GENE - TERM ANNOTATION REPORT

RGD ID: 11796314
Species: Pan paniscus
RGD Object: Gene
Symbol: MKKS
Name: MKKS centrosomal shuttling protein
Acc ID: DOID:0111255
Term: McKusick-Kaufman syndrome
Definition: A syndrome characterized by neonatal onset of genitourinary malformations, especially hydrometrocolpos, polydactyly, and, more rarely, heart or gastrointestinal malformations that has_material_basis_in homozygous or compound heterozygous mutation in MKKS on 20p12.2. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/10802661 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/21044901 "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)
MKKS ISOMKKS (Homo sapiens)7240710OMIM  
MKKS ISOMKKS (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation | ClinVar Annotator: match by term: MKKS-related condition | ClinVar Annotator: match by term: McKusick-Kaufman syndromePMID:10802661 PMID:10973251 PMID:11179009 PMID:11567139 PMID:12107442 PMID:12920096 PMID:15483080 PMID:15637713 PMID:15666242 PMID:15770229 PMID:16104012 PMID:17576681 PMID:18094050 PMID:20080638 PMID:20142850 PMID:20177705 PMID:20226561 PMID:20472660 PMID:20498079 PMID:21157496 PMID:21209035 PMID:22446187 PMID:22500027 PMID:22773737 PMID:24400638 PMID:25741868 PMID:25982971 PMID:26355662 PMID:26900326 PMID:27491411 PMID:28492532 PMID:28753627 PMID:28761321 PMID:29127258 PMID:29588463 PMID:30504698 PMID:30586318 PMID:30614526 PMID:30718709 PMID:31028937 PMID:33138063 PMID:33520300 PMID:34448047 PMID:35112343 PMID:35835773 PMID:9536098
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