Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 23639
Gene Symbol: LRRC6
LRRC6
CUI: C4551720
Disease: Primary Ciliary Dyskinesia
Primary Ciliary Dyskinesia 		0.560 GermlineCausalMutation 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
Entrez Id: 23639
Gene Symbol: LRRC6
LRRC6
CUI: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		0.400 GermlineCausalMutation ORPHANET Loss-of-function mutations in LRRC6, a gene essential for proper axonemal assembly of inner and outer dynein arms, cause primary ciliary dyskinesia. 23122589

2012
Entrez Id: 23639
Gene Symbol: LRRC6
LRRC6
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome 		0.330 GermlineCausalMutation ORPHANET Loss-of-function mutations in LRRC6, a gene essential for proper axonemal assembly of inner and outer dynein arms, cause primary ciliary dyskinesia. 23122589

2012
Entrez Id: 23639
Gene Symbol: LRRC6
LRRC6
CUI: C4317124
Disease: Polynesian Bronchiectasis
Polynesian Bronchiectasis 		0.300 GermlineCausalMutation ORPHANET Loss-of-function mutations in LRRC6, a gene essential for proper axonemal assembly of inner and outer dynein arms, cause primary ciliary dyskinesia. 23122589

2012