Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4310804
Disease: WITTEVEEN-KOLK SYNDROME
WITTEVEEN-KOLK SYNDROME
0.600 CausalMutation disease CLINVAR Novel SIN3A mutation identified in a Japanese patient with Witteveen-Kolk syndrome. 30267900 2019
CUI: C4310804
Disease: WITTEVEEN-KOLK SYNDROME
WITTEVEEN-KOLK SYNDROME
0.600 Biomarker disease GENOMICS_ENGLAND Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data. 25529582 2015
CUI: C4310804
Disease: WITTEVEEN-KOLK SYNDROME
WITTEVEEN-KOLK SYNDROME
0.600 Biomarker disease CTD_human