CCDC40, coiled-coil domain containing 40, 55036

N. diseases: 49; N. variants: 29
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397515393
rs397515393
Entrez Id: 55036
Gene Symbol: CCDC40
CCDC40
CUI: C0008780
Disease:
Ciliary Motility Disorders 		G 0.700 CausalMutation CLINVAR CCDC40 mutation as a cause of primary ciliary dyskinesia: a case report and review of literature. 25619595 2016
dbSNP: rs863224519
rs863224519
Entrez Id: 55036;100616121
Gene Symbol: CCDC40;MIR1268B
CCDC40;MIR1268B
CUI: C0008780
Disease:
Ciliary Motility Disorders 		T 0.700 CausalMutation CLINVAR The role of molecular genetic analysis in the diagnosis of primary ciliary dyskinesia. 24498942 2014
dbSNP: rs1346603171
rs1346603171
Entrez Id: 55036
Gene Symbol: CCDC40
CCDC40
CUI: C0008780
Disease:
Ciliary Motility Disorders 		A 0.700 GeneticVariation CLINVAR Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms. 23255504 2013
dbSNP: rs1568709952
rs1568709952
Entrez Id: 55036
Gene Symbol: CCDC40
CCDC40
CUI: C0008780
Disease:
Ciliary Motility Disorders 		T 0.700 GeneticVariation CLINVAR Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms. 23255504 2013
dbSNP: rs370706991
rs370706991
Entrez Id: 55036
Gene Symbol: CCDC40
CCDC40
CUI: C0008780
Disease:
Ciliary Motility Disorders 		T 0.700 CausalMutation CLINVAR Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms. 23255504 2013
dbSNP: rs370706991
rs370706991
Entrez Id: 55036
Gene Symbol: CCDC40
CCDC40
CUI: C3151137
Disease:
CILIARY DYSKINESIA, PRIMARY, 15 		T 0.700 GeneticVariation CLINVAR Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms. 23255504 2013
dbSNP: rs397515393
rs397515393
Entrez Id: 55036
Gene Symbol: CCDC40
CCDC40
CUI: C3151137
Disease:
CILIARY DYSKINESIA, PRIMARY, 15 		G 0.700 CausalMutation CLINVAR Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms. 23255504 2013
dbSNP: rs397515393
rs397515393
Entrez Id: 55036
Gene Symbol: CCDC40
CCDC40
CUI: C0008780
Disease:
Ciliary Motility Disorders 		G 0.700 CausalMutation CLINVAR Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms. 23255504 2013
dbSNP: rs397515393
rs397515393
Entrez Id: 55036
Gene Symbol: CCDC40
CCDC40
CUI: C0008780
Disease:
Ciliary Motility Disorders 		G 0.700 CausalMutation CLINVAR ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6. 23891469 2013
dbSNP: rs747233125
rs747233125
Entrez Id: 55036
Gene Symbol: CCDC40
CCDC40
CUI: C0008780
Disease:
Ciliary Motility Disorders 		T 0.700 CausalMutation CLINVAR Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms. 23255504 2013
dbSNP: rs750708201
rs750708201
Entrez Id: 55036
Gene Symbol: CCDC40
CCDC40
CUI: C0008780
Disease:
Ciliary Motility Disorders 		G 0.700 CausalMutation CLINVAR Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms. 23255504 2013
dbSNP: rs764011276
rs764011276
Entrez Id: 55036
Gene Symbol: CCDC40
CCDC40
CUI: C0008780
Disease:
Ciliary Motility Disorders 		C 0.700 CausalMutation CLINVAR Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms. 23255504 2013
dbSNP: rs1346603171
rs1346603171
Entrez Id: 55036
Gene Symbol: CCDC40
CCDC40
CUI: C0008780
Disease:
Ciliary Motility Disorders 		A 0.700 GeneticVariation CLINVAR Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia. 22693285 2012
dbSNP: rs1568709952
rs1568709952
Entrez Id: 55036
Gene Symbol: CCDC40
CCDC40
CUI: C0008780
Disease:
Ciliary Motility Disorders 		T 0.700 GeneticVariation CLINVAR Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia. 22693285 2012
dbSNP: rs370706991
rs370706991
Entrez Id: 55036
Gene Symbol: CCDC40
CCDC40
CUI: C3151137
Disease:
CILIARY DYSKINESIA, PRIMARY, 15 		T 0.700 GeneticVariation CLINVAR Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia. 22693285 2012
dbSNP: rs370706991
rs370706991
Entrez Id: 55036
Gene Symbol: CCDC40
CCDC40
CUI: C0008780
Disease:
Ciliary Motility Disorders 		T 0.700 CausalMutation CLINVAR Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia. 22693285 2012
dbSNP: rs371595543
rs371595543
Entrez Id: 55036
Gene Symbol: CCDC40
CCDC40
CUI: C0008780
Disease:
Ciliary Motility Disorders 		T 0.700 CausalMutation CLINVAR High prevalence of respiratory ciliary dysfunction in congenital heart disease patients with heterotaxy. 22499950 2012
dbSNP: rs397515393
rs397515393
Entrez Id: 55036
Gene Symbol: CCDC40
CCDC40
CUI: C0008780
Disease:
Ciliary Motility Disorders 		G 0.700 CausalMutation CLINVAR Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia. 22693285 2012
dbSNP: rs397515393
rs397515393
Entrez Id: 55036
Gene Symbol: CCDC40
CCDC40
CUI: C0008780
Disease:
Ciliary Motility Disorders 		G 0.700 CausalMutation CLINVAR High prevalence of respiratory ciliary dysfunction in congenital heart disease patients with heterotaxy. 22499950 2012
dbSNP: rs397515393
rs397515393
Entrez Id: 55036
Gene Symbol: CCDC40
CCDC40
CUI: C3151137
Disease:
CILIARY DYSKINESIA, PRIMARY, 15 		G 0.700 CausalMutation CLINVAR High prevalence of respiratory ciliary dysfunction in congenital heart disease patients with heterotaxy. 22499950 2012
dbSNP: rs750708201
rs750708201
Entrez Id: 55036
Gene Symbol: CCDC40
CCDC40
CUI: C0008780
Disease:
Ciliary Motility Disorders 		G 0.700 CausalMutation CLINVAR Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia. 22693285 2012
dbSNP: rs1346603171
rs1346603171
Entrez Id: 55036
Gene Symbol: CCDC40
CCDC40
CUI: C0008780
Disease:
Ciliary Motility Disorders 		A 0.700 GeneticVariation CLINVAR The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation. 21131974 2011
dbSNP: rs1568709952
rs1568709952
Entrez Id: 55036
Gene Symbol: CCDC40
CCDC40
CUI: C0008780
Disease:
Ciliary Motility Disorders 		T 0.700 GeneticVariation CLINVAR The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation. 21131974 2011
dbSNP: rs370706991
rs370706991
Entrez Id: 55036
Gene Symbol: CCDC40
CCDC40
CUI: C0008780
Disease:
Ciliary Motility Disorders 		T 0.700 CausalMutation CLINVAR The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation. 21131974 2011
dbSNP: rs387907092
rs387907092
Entrez Id: 55036
Gene Symbol: CCDC40
CCDC40
CUI: C0008780
Disease:
Ciliary Motility Disorders 		T 0.700 CausalMutation CLINVAR The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation. 21131974 2011