ARMC4, armadillo repeat containing 4, 55130

N. diseases: 60; N. variants: 18
Disease: CILIARY DYSKINESIA, PRIMARY, 23 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777047
rs587777047
Entrez Id: 55130
Gene Symbol: ARMC4
ARMC4
CUI: C3809548
Disease:
CILIARY DYSKINESIA, PRIMARY, 23 		0.800 GeneticVariation UNIPROT Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia. 25186273 2014
dbSNP: rs587777047
rs587777047
Entrez Id: 55130
Gene Symbol: ARMC4
ARMC4
CUI: C3809548
Disease:
CILIARY DYSKINESIA, PRIMARY, 23 		0.800 GeneticVariation UNIPROT ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry. 23849778 2013
dbSNP: rs587777047
rs587777047
Entrez Id: 55130
Gene Symbol: ARMC4
ARMC4
CUI: C3809548
Disease:
CILIARY DYSKINESIA, PRIMARY, 23 		C 0.800 CausalMutation CLINVAR
dbSNP: rs587777047
rs587777047
Entrez Id: 55130
Gene Symbol: ARMC4
ARMC4
CUI: C3809548
Disease:
CILIARY DYSKINESIA, PRIMARY, 23 		C 0.800 GeneticVariation CLINVAR
dbSNP: rs587777199
rs587777199
Entrez Id: 55130
Gene Symbol: ARMC4
ARMC4
CUI: C3809548
Disease:
CILIARY DYSKINESIA, PRIMARY, 23 		A 0.700 CausalMutation 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
dbSNP: rs1297261096
rs1297261096
Entrez Id: 55130
Gene Symbol: ARMC4
ARMC4
CUI: C3809548
Disease:
CILIARY DYSKINESIA, PRIMARY, 23 		C 0.700 GeneticVariation CLINVAR ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry. 23849778 2013
dbSNP: rs145742175
rs145742175
Entrez Id: 55130
Gene Symbol: ARMC4
ARMC4
CUI: C3809548
Disease:
CILIARY DYSKINESIA, PRIMARY, 23 		A 0.700 CausalMutation CLINVAR ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry. 23849778 2013
dbSNP: rs1554822213
rs1554822213
Entrez Id: 55130
Gene Symbol: ARMC4
ARMC4
CUI: C3809548
Disease:
CILIARY DYSKINESIA, PRIMARY, 23 		A 0.700 GeneticVariation CLINVAR ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry. 23849778 2013
dbSNP: rs868755574
rs868755574
Entrez Id: 55130
Gene Symbol: ARMC4
ARMC4
CUI: C3809548
Disease:
CILIARY DYSKINESIA, PRIMARY, 23 		A 0.700 CausalMutation CLINVAR ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry. 23849778 2013
dbSNP: rs879253744
rs879253744
Entrez Id: 55130
Gene Symbol: ARMC4
ARMC4
CUI: C3809548
Disease:
CILIARY DYSKINESIA, PRIMARY, 23 		T 0.700 CausalMutation CLINVAR ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry. 23849778 2013
dbSNP: rs1409069267
rs1409069267
Entrez Id: 55130
Gene Symbol: ARMC4
ARMC4
CUI: C3809548
Disease:
CILIARY DYSKINESIA, PRIMARY, 23 		A 0.700 CausalMutation CLINVAR
dbSNP: rs201213030
rs201213030
Entrez Id: 55130
Gene Symbol: ARMC4
ARMC4
CUI: C3809548
Disease:
CILIARY DYSKINESIA, PRIMARY, 23 		T 0.700 CausalMutation CLINVAR
dbSNP: rs587777048
rs587777048
Entrez Id: 55130
Gene Symbol: ARMC4
ARMC4
CUI: C3809548
Disease:
CILIARY DYSKINESIA, PRIMARY, 23 		T 0.700 CausalMutation CLINVAR
dbSNP: rs587777049
rs587777049
Entrez Id: 55130
Gene Symbol: ARMC4
ARMC4
CUI: C3809548
Disease:
CILIARY DYSKINESIA, PRIMARY, 23 		T 0.700 CausalMutation CLINVAR
dbSNP: rs768447289
rs768447289
Entrez Id: 55130
Gene Symbol: ARMC4
ARMC4
CUI: C3809548
Disease:
CILIARY DYSKINESIA, PRIMARY, 23 		T 0.700 CausalMutation CLINVAR
dbSNP: rs771920114
rs771920114
Entrez Id: 55130
Gene Symbol: ARMC4
ARMC4
CUI: C3809548
Disease:
CILIARY DYSKINESIA, PRIMARY, 23 		A 0.700 CausalMutation CLINVAR