Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 89765
Gene Symbol: RSPH1
RSPH1
CUI: C0000846
Disease: Agenesis
Agenesis
0.010 GeneticVariation BEFREE This detected loss-of-function RSPH1 mutations in four individuals with isolated central pair (CP) agenesis and normal body laterality, from two unrelated families. 24518672

2014