ARMC4, armadillo repeat containing 4, 55130

N. diseases: 60; N. variants: 18
Disease: CILIARY DYSKINESIA, PRIMARY, 23 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3809548
Disease: CILIARY DYSKINESIA, PRIMARY, 23
CILIARY DYSKINESIA, PRIMARY, 23 		0.900 CausalMutation disease CLINVAR Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm. 24203976 2014
CUI: C3809548
Disease: CILIARY DYSKINESIA, PRIMARY, 23
CILIARY DYSKINESIA, PRIMARY, 23 		0.900 Biomarker disease GENOMICS_ENGLAND Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm. 24203976 2014
CUI: C3809548
Disease: CILIARY DYSKINESIA, PRIMARY, 23
CILIARY DYSKINESIA, PRIMARY, 23 		0.900 GeneticVariation disease UNIPROT Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia. 25186273 2014
CUI: C3809548
Disease: CILIARY DYSKINESIA, PRIMARY, 23
CILIARY DYSKINESIA, PRIMARY, 23 		0.900 GeneticVariation disease UNIPROT ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry. 23849778 2013
CUI: C3809548
Disease: CILIARY DYSKINESIA, PRIMARY, 23
CILIARY DYSKINESIA, PRIMARY, 23 		0.900 Biomarker disease MGD ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry. 23849778 2013
CUI: C3809548
Disease: CILIARY DYSKINESIA, PRIMARY, 23
CILIARY DYSKINESIA, PRIMARY, 23 		0.900 GeneticVariation disease CLINVAR ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry. 23849778 2013
CUI: C3809548
Disease: CILIARY DYSKINESIA, PRIMARY, 23
CILIARY DYSKINESIA, PRIMARY, 23 		0.900 CausalMutation disease CLINVAR ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry. 23849778 2013
CUI: C3809548
Disease: CILIARY DYSKINESIA, PRIMARY, 23
CILIARY DYSKINESIA, PRIMARY, 23 		0.900 Biomarker disease GENOMICS_ENGLAND ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry. 23849778 2013
CUI: C3809548
Disease: CILIARY DYSKINESIA, PRIMARY, 23
CILIARY DYSKINESIA, PRIMARY, 23 		0.900 Biomarker disease GENOMICS_ENGLAND
CUI: C3809548
Disease: CILIARY DYSKINESIA, PRIMARY, 23
CILIARY DYSKINESIA, PRIMARY, 23 		0.900 Biomarker disease GENOMICS_ENGLAND
CUI: C3809548
Disease: CILIARY DYSKINESIA, PRIMARY, 23
CILIARY DYSKINESIA, PRIMARY, 23 		0.900 Biomarker disease CTD_human