Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 85016
Gene Symbol: CFAP300
CFAP300
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome 		0.320 GermlineCausalMutation ORPHANET Mutations in C11orf70 Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry Due to Defects of Outer and Inner Dynein Arms. 29727693

2018
Entrez Id: 85016
Gene Symbol: CFAP300
CFAP300
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome 		0.320 GermlineCausalMutation ORPHANET C11orf70 Mutations Disrupting the Intraflagellar Transport-Dependent Assembly of Multiple Axonemal Dyneins Cause Primary Ciliary Dyskinesia. 29727692

2018