RSPH1, radial spoke head component 1, 89765

N. diseases: 47; N. variants: 14
Disease: Idiopathic bronchiectasis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0339985
Disease: Idiopathic bronchiectasis
Idiopathic bronchiectasis 		0.010 GeneticVariation disease BEFREE Screening RSPH1 in 413 unrelated probands, including 325 with PCD and 88 with idiopathic bronchiectasis, revealed biallelic loss-of-function mutations in nine additional probands. 24568568 2014