Disease: HEART AND BRAIN MALFORMATION SYNDROME ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4310793
Disease: HEART AND BRAIN MALFORMATION SYNDROME
HEART AND BRAIN MALFORMATION SYNDROME 		0.600 Biomarker disease GENOMICS_ENGLAND Confirmation and further delineation of the SMG9-deficiency syndrome, a rare and severe developmental disorder. 31390136 2019
CUI: C4310793
Disease: HEART AND BRAIN MALFORMATION SYNDROME
HEART AND BRAIN MALFORMATION SYNDROME 		0.600 Biomarker disease GENOMICS_ENGLAND Mutations in SMG9, Encoding an Essential Component of Nonsense-Mediated Decay Machinery, Cause a Multiple Congenital Anomaly Syndrome in Humans and Mice. 27018474 2016
CUI: C4310793
Disease: HEART AND BRAIN MALFORMATION SYNDROME
HEART AND BRAIN MALFORMATION SYNDROME 		0.600 CausalMutation disease CLINVAR
CUI: C4310793
Disease: HEART AND BRAIN MALFORMATION SYNDROME
HEART AND BRAIN MALFORMATION SYNDROME 		0.600 Biomarker disease CTD_human