Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 345895
Gene Symbol: RSPH4A
RSPH4A
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.100 CausalMutation CLINVAR Immunofluorescence Analysis and Diagnosis of Primary Ciliary Dyskinesia with Radial Spoke Defects. 25789548

2015
Entrez Id: 345895
Gene Symbol: RSPH4A
RSPH4A
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.100 CausalMutation CLINVAR Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects. 23993197

2013
Entrez Id: 345895
Gene Symbol: RSPH4A
RSPH4A
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.100 CausalMutation CLINVAR Founder mutation in RSPH4A identified in patients of Hispanic descent with primary ciliary dyskinesia. 23798057

2013
Entrez Id: 345895
Gene Symbol: RSPH4A
RSPH4A
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.100 CausalMutation CLINVAR Mutations in radial spoke head genes and ultrastructural cilia defects in East-European cohort of primary ciliary dyskinesia patients. 22448264

2012
Entrez Id: 345895
Gene Symbol: RSPH4A
RSPH4A
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.100 CausalMutation CLINVAR Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities. 19200523

2009