Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3708
Gene Symbol: ITPR1
ITPR1
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.100 CausalMutation CLINVAR A novel splice site variant in ITPR1 gene underlying recessive Gillespie syndrome. 29663667

2018