Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 54585
Gene Symbol: LZTFL1
LZTFL1
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome
0.640 GermlineCausalMutation ORPHANET This study shows that absence of LZTFL1 leads to a BBS phenotype with enhanced developmental abnormalities associated with cellular Shh dysfunction.LZTFL1 is a novel BBS gene (BBS17). 22510444

2012