Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Saethre-Chotzen Syndrome with Eyelid Anomalies
0.400 Biomarker disease CTD_human Identification of a new TWIST mutation (7p21) with variable eyelid manifestations supports locus homogeneity of BPES at 3q22. 11474656 2001
Saethre-Chotzen Syndrome with Eyelid Anomalies
0.400 CausalMutation disease CLINVAR