DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Ciliary Motility Disorders ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

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:	1767
Gene Symbol:	DNAH5

DNAH5

CUI:	C0008780
Disease:	Ciliary Motility Disorders

Ciliary Motility Disorders

0.310

CausalMutation

CLINVAR

[Study of anti-ischemic action of carnitine chloride and its effects on the effectiveness of antianginal agents].

2127064

1990

Entrez Id:	339829
Gene Symbol:	CCDC39

CCDC39

CUI:	C0008780
Disease:	Ciliary Motility Disorders

Ciliary Motility Disorders

0.100

CausalMutation

CLINVAR

Multinuclear NMR investigations of probe construction materials at 4.7 T.

2325550

1990

Entrez Id:	1767
Gene Symbol:	DNAH5

DNAH5

CUI:	C0008780
Disease:	Ciliary Motility Disorders

Ciliary Motility Disorders

0.310

CausalMutation

CLINVAR

Interhemispheric transfer of plasticity in the cerebral cortex.

2389146

1990