Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 49855
Gene Symbol: SCAPER
SCAPER
CUI: C0349588
Disease: Short stature
Short stature 		0.100 CausalMutation CLINVAR SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome. 30723319

2019