Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3708
Gene Symbol: ITPR1
ITPR1
0.100 CausalMutation phenotype CLINVAR A novel splice site variant in ITPR1 gene underlying recessive Gillespie syndrome. 29663667 2018
Entrez Id: 3708
Gene Symbol: ITPR1
ITPR1
0.100 Biomarker phenotype HPO