Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551720
Disease: Primary Ciliary Dyskinesia
Primary Ciliary Dyskinesia
0.560 Biomarker disease BEFREE Our study not only further supported the importance of LRRC6 in PCD, but also expanded the spectrum of <i>LRRC6</i> mutations and will contribute to the genetic diagnosis and counseling of PCD patients. 29511670 2018
CUI: C4551720
Disease: Primary Ciliary Dyskinesia
Primary Ciliary Dyskinesia
0.560 Biomarker disease BEFREE Mutant mice lacking Lrrc6 show typical PCD defects such as hydrocephalus and laterality defects. 27353389 2016
CUI: C4551720
Disease: Primary Ciliary Dyskinesia
Primary Ciliary Dyskinesia
0.560 GeneticVariation disease BEFREE These findings suggest that LRRC6 plays a role in dynein arm assembly or trafficking and when mutated leads to primary ciliary dyskinesia with laterality defects. 23527195 2013
CUI: C4551720
Disease: Primary Ciliary Dyskinesia
Primary Ciliary Dyskinesia
0.560 GeneticVariation disease BEFREE ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6. 23891469 2013
CUI: C4551720
Disease: Primary Ciliary Dyskinesia
Primary Ciliary Dyskinesia
0.560 Biomarker disease BEFREE Tagged Drosophila ZMYND10 is localized primarily to the cytoplasm, and human ZMYND10 interacts with LRRC6, another cytoplasmically localized protein altered in PCD. 23891471 2013
CUI: C4551720
Disease: Primary Ciliary Dyskinesia
Primary Ciliary Dyskinesia
0.560 Biomarker disease BEFREE In spite of structural and functional similarities between LRRC6 and DNAAF1, another LRR-containing protein involved in the same PCD phenotype, the two proteins are not redundant. 23122589 2012
CUI: C4551720
Disease: Primary Ciliary Dyskinesia
Primary Ciliary Dyskinesia
0.560 GermlineCausalMutation disease ORPHANET In spite of structural and functional similarities between LRRC6 and DNAAF1, another LRR-containing protein involved in the same PCD phenotype, the two proteins are not redundant. 23122589 2012
CUI: C4551720
Disease: Primary Ciliary Dyskinesia
Primary Ciliary Dyskinesia
0.560 Biomarker disease GENOMICS_ENGLAND