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GENE - TERM ANNOTATION REPORT

CRRD ID: 11924374
Species: Pan paniscus
CRRD Object: Gene
Symbol: ZMYND10
Name: zinc finger MYND-type containing 10
Acc ID: DOID:0050144
Term: Kartagener syndrome
Definition: An autosomal recessive disorder characterized by a triad of DEXTROCARDIA; INFERTILITY; and SINUSITIS. The syndrome is caused by mutations of DYNEIN genes encoding motility proteins which are components of sperm tails, and CILIA in the respiratory and the reproductive tracts.
Definition Source(s): http://en.wikipedia.org/wiki/Situs_inversus#Kartagener_syndrome "DO", http://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=14.10d&code=C84797 "DO", http://rarediseases.info.nih.gov/gard/6815/kartagener-syndrome/resources/1 "DO", https://www.ncbi.nlm.nih.gov/pubmed/19529061 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23243352 "DO", https://www.ncbi.nlm.nih.gov/pubmed/24019633 "DO", https://www.ncbi.nlm.nih.gov/pubmed/25633235 "DO", MESH:D007619
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)
ZMYND10 ISORGD:86218959068941ClinVarClinVar Annotator: match by term: Primary ciliary dyskinesia

PMID:23891469, PMID:23891471, PMID:28492532
ZMYND10 ISORGD:86219009068941ClinVarClinVar Annotator: match by term: Primary ciliary dyskinesia

PMID:23891471, PMID:28492532
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.