DisGeNET - a database of gene-disease associations

Gene: CCDC103 ×

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:	388389
Gene Symbol:	CCDC103

CCDC103

CUI:	C4551720
Disease:	Primary Ciliary Dyskinesia

Primary Ciliary Dyskinesia

0.530

GermlineCausalMutation

ORPHANET

These results identify Ccdc103 as a dynein arm attachment factor that causes primary ciliary dyskinesia when mutated.

2012