Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 219844
Gene Symbol: HYLS1
HYLS1
CUI: C4551568
Disease: Joubert syndrome 1
Joubert syndrome 1 		0.300 GermlineCausalMutation ORPHANET A novel HYLS1 homozygous mutation in living siblings with Joubert syndrome. 26830932

2016