DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Ciliary Motility Disorders ×

Gene: CCDC114 ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF _EXOME

AF _GENOME

Disease

Score _vda

EI _vda

N_.PMIDs

FirstRef.

LastRef.

dbSNP:

rs147718607

rs147718607

CCDC114

0.925

0.160

19

48303953

missense variant

C/T

snv

2.4E-04

2.2E-04

CUI:	C0008780
Disease:	Ciliary Motility Disorders

Ciliary Motility Disorders

0.700

1.000

2013

2013

dbSNP:

rs201133219

rs201133219

CCDC114

1.000

19

48297995

splice region variant

C/T

snv

8.0E-05

7.0E-05

CUI:	C0008780
Disease:	Ciliary Motility Disorders

Ciliary Motility Disorders

0.700

1.000

2013

2013

dbSNP:

rs1060500990

rs1060500990

CCDC114

19

48303645

splice region variant

C/T

snv

1.4E-05

CUI:	C0008780
Disease:	Ciliary Motility Disorders

Ciliary Motility Disorders

0.700

dbSNP:

rs1421531868

rs1421531868

CCDC114

19

48312079

frameshift variant

T/-

delins

6.3E-06

CUI:	C0008780
Disease:	Ciliary Motility Disorders

Ciliary Motility Disorders

0.700

dbSNP:

rs753915759

rs753915759

CCDC114

19

48297656

frameshift variant

-/G

delins

1.4E-05

CUI:	C0008780
Disease:	Ciliary Motility Disorders

Ciliary Motility Disorders

0.700

dbSNP:

rs766394527

rs766394527

CCDC114

19

48297653

frameshift variant

-/C

delins

2.4E-05

1.4E-05

CUI:	C0008780
Disease:	Ciliary Motility Disorders

Ciliary Motility Disorders

0.700