Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0037231
Disease: Sjogren-Larsson Syndrome
Sjogren-Larsson Syndrome
0.010 GeneticVariation disease BEFREE In conclusion, we identified compound heterozygous splice site variants of SCLT1 in a patient with a new form of ciliopathies that exhibits clinical features of SLS. 30425282 2018