DisGeNET - a database of gene-disease associations

CFAP298, cilia and flagella associated protein 298, 56683

N. diseases: 45; N. variants: 6

Disease: CILIARY DYSKINESIA, PRIMARY, 26 ×

Source: ALL

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs140727644

rs140727644

Entrez Id:	56683;110091775
Gene Symbol:	CFAP298;CFAP298-TCP10L

CFAP298;CFAP298-TCP10L

CUI:	C3809684
Disease:

CILIARY DYSKINESIA, PRIMARY, 26

0.700

GeneticVariation

UNIPROT

dbSNP:

rs143740376

rs143740376

Entrez Id:	56683;110091775
Gene Symbol:	CFAP298;CFAP298-TCP10L

CFAP298;CFAP298-TCP10L

CUI:	C3809684
Disease:

CILIARY DYSKINESIA, PRIMARY, 26

A

0.700

CausalMutation

CLINVAR

dbSNP:

rs202094637

rs202094637

Entrez Id:	56683;110091775
Gene Symbol:	CFAP298;CFAP298-TCP10L

CFAP298;CFAP298-TCP10L

CUI:	C3809684
Disease:

CILIARY DYSKINESIA, PRIMARY, 26

C

0.700

CausalMutation

CLINVAR

dbSNP:

rs398122401

rs398122401

Entrez Id:	56683;110091775
Gene Symbol:	CFAP298;CFAP298-TCP10L

CFAP298;CFAP298-TCP10L

CUI:	C3809684
Disease:

CILIARY DYSKINESIA, PRIMARY, 26

T

0.700

CausalMutation

CLINVAR