Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 89765
Gene Symbol: RSPH1
RSPH1
0.100 CausalMutation group CLINVAR Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia. 26139845 2015
Entrez Id: 89765
Gene Symbol: RSPH1
RSPH1
0.100 CausalMutation group CLINVAR Targeted NGS gene panel identifies mutations in RSPH1 causing primary ciliary dyskinesia and a common mechanism for ciliary central pair agenesis due to radial spoke defects. 24518672 2014
Entrez Id: 89765
Gene Symbol: RSPH1
RSPH1
0.100 CausalMutation group CLINVAR Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype. 24568568 2014
Entrez Id: 89765
Gene Symbol: RSPH1
RSPH1
0.100 CausalMutation group CLINVAR Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects. 23993197 2013
Entrez Id: 89765
Gene Symbol: RSPH1
RSPH1
0.100 GeneticVariation group CLINVAR Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects. 23993197 2013