PIH1D3, PIH1 domain containing 3, 139212

N. diseases: 44; N. variants: 3
Disease: Kartagener Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome 		0.320 GermlineCausalMutation disease ORPHANET Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects. 28041644 2017
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome 		0.320 GeneticVariation disease BEFREE X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3. 28176794 2017
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome 		0.320 GeneticVariation disease BEFREE Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects. 28041644 2017