Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1861481
Disease: Stickler syndrome, type 3
Stickler syndrome, type 3
0.600 Biomarker disease GENOMICS_ENGLAND A stop codon mutation in COL11A2 induces exon skipping and leads to non-ocular Stickler syndrome. 15372529 2004
CUI: C1861481
Disease: Stickler syndrome, type 3
Stickler syndrome, type 3
0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C1861481
Disease: Stickler syndrome, type 3
Stickler syndrome, type 3
0.600 GermlineCausalMutation disease ORPHANET
CUI: C1861481
Disease: Stickler syndrome, type 3
Stickler syndrome, type 3
0.600 CausalMutation disease CLINVAR