Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 100533483
Gene Symbol: DNAAF4-CCPG1
DNAAF4-CCPG1
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.100 GeneticVariation CLINVAR

Entrez Id: 55536
Gene Symbol: CDCA7L
CDCA7L
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.100 GeneticVariation CLINVAR

Entrez Id: 51314
Gene Symbol: NME8
NME8
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.100 CausalMutation CLINVAR

Entrez Id: 55536
Gene Symbol: CDCA7L
CDCA7L
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.100 CausalMutation CLINVAR

Entrez Id: 100533483
Gene Symbol: DNAAF4-CCPG1
DNAAF4-CCPG1
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.100 CausalMutation CLINVAR

Entrez Id: 100528020
Gene Symbol: FAM187A
FAM187A
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.100 GeneticVariation CLINVAR

Entrez Id: 5575
Gene Symbol: PRKAR1B
PRKAR1B
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.100 CausalMutation CLINVAR

Entrez Id: 8481
Gene Symbol: OFD1
OFD1
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.100 CausalMutation CLINVAR

Entrez Id: 161582
Gene Symbol: DNAAF4
DNAAF4
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.100 GeneticVariation CLINVAR

Entrez Id: 6103
Gene Symbol: RPGR
RPGR
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.100 GeneticVariation CLINVAR

Entrez Id: 54749
Gene Symbol: EPDR1
EPDR1
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.100 CausalMutation CLINVAR

Entrez Id: 10309
Gene Symbol: CCNO
CCNO
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.100 GeneticVariation CLINVAR

Entrez Id: 345643
Gene Symbol: MCIDAS
MCIDAS
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.100 CausalMutation CLINVAR

Entrez Id: 93233
Gene Symbol: CCDC114
CCDC114
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.100 GeneticVariation CLINVAR

Entrez Id: 161582
Gene Symbol: DNAAF4
DNAAF4
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.100 CausalMutation CLINVAR

Entrez Id: 1769
Gene Symbol: DNAH8
DNAH8
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.100 CausalMutation CLINVAR

Entrez Id: 221421
Gene Symbol: RSPH9
RSPH9
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.100 GeneticVariation CLINVAR

Entrez Id: 23639
Gene Symbol: LRRC6
LRRC6
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.100 CausalMutation CLINVAR

Entrez Id: 56171
Gene Symbol: DNAH7
DNAH7
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.100 CausalMutation CLINVAR

Entrez Id: 83544
Gene Symbol: DNAL1
DNAL1
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.100 CausalMutation CLINVAR

Entrez Id: 388389
Gene Symbol: CCDC103
CCDC103
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.100 GeneticVariation CLINVAR

Entrez Id: 100131047
Gene Symbol: DNAH8-AS1
DNAH8-AS1
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.100 CausalMutation CLINVAR

Entrez Id: 100528020
Gene Symbol: FAM187A
FAM187A
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.100 CausalMutation CLINVAR A case report of primary ciliary dyskinesia, laterality defects and developmental delay caused by the co-existence of a single gene and chromosome disorder. 26123568

2015
Entrez Id: 388389
Gene Symbol: CCDC103
CCDC103
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.100 CausalMutation CLINVAR A case report of primary ciliary dyskinesia, laterality defects and developmental delay caused by the co-existence of a single gene and chromosome disorder. 26123568

2015
Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.310 CausalMutation CLINVAR A novel mutation of DNAH5 in chronic rhinosinusitis and primary ciliary dyskinesia in a Chinese family. 24150548

2014