LRRC56, leucine rich repeat containing 56, 115399

N. diseases: 45; N. variants: 33
Disease: CILIARY DYSKINESIA, PRIMARY, 39 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4748841
Disease: CILIARY DYSKINESIA, PRIMARY, 39
CILIARY DYSKINESIA, PRIMARY, 39 		0.600 Biomarker disease GENOMICS_ENGLAND Biallelic Mutations in LRRC56, Encoding a Protein Associated with Intraflagellar Transport, Cause Mucociliary Clearance and Laterality Defects. 30388400 2018
CUI: C4748841
Disease: CILIARY DYSKINESIA, PRIMARY, 39
CILIARY DYSKINESIA, PRIMARY, 39 		0.600 GeneticVariation disease UNIPROT Biallelic Mutations in LRRC56, Encoding a Protein Associated with Intraflagellar Transport, Cause Mucociliary Clearance and Laterality Defects. 30388400 2018
CUI: C4748841
Disease: CILIARY DYSKINESIA, PRIMARY, 39
CILIARY DYSKINESIA, PRIMARY, 39 		0.600 CausalMutation disease CLINVAR