SPEF2, sperm flagellar 2, 79925

N. diseases: 11; N. variants: 4
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		0.300 GermlineCausalMutation disease ORPHANET SPEF2- and HYDIN-mutant Cilia Lack the Central Pair Associated Protein SPEF2 Aiding PCD Diagnostics. 31545650 2020