Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome
0.740 GermlineCausalMutation ORPHANET Five of six families with both MKS1 and BBS mutations manifested seizures, a feature that is not a typical component of either syndrome. 18327255

2008