COMT, catechol-O-methyltransferase, 1312

N. diseases: 622; N. variants: 47
Disease: CONOTRUNCAL ANOMALY FACE SYNDROME ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0795907
Disease: CONOTRUNCAL ANOMALY FACE SYNDROME
CONOTRUNCAL ANOMALY FACE SYNDROME 		0.500 Biomarker disease CTD_human Association of codon 108/158 catechol-O-methyltransferase gene polymorphism with the psychiatric manifestations of velo-cardio-facial syndrome. 8886163 1996
CUI: C0795907
Disease: CONOTRUNCAL ANOMALY FACE SYNDROME
CONOTRUNCAL ANOMALY FACE SYNDROME 		0.500 ChromosomalRearrangement disease ORPHANET