B4GALT7, beta-1,4-galactosyltransferase 7, 11285

N. diseases: 79; N. variants: 9
Disease: EHLERS-DANLOS SYNDROME, PROGEROID FORM ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1869122
Disease: EHLERS-DANLOS SYNDROME, PROGEROID FORM
EHLERS-DANLOS SYNDROME, PROGEROID FORM 		0.500 GermlineCausalMutation disease ORPHANET A novel missense mutation in the galactosyltransferase-I (B4GALT7) gene in a family exhibiting facioskeletal anomalies and Ehlers-Danlos syndrome resembling the progeroid type. 15211654 2004
CUI: C1869122
Disease: EHLERS-DANLOS SYNDROME, PROGEROID FORM
EHLERS-DANLOS SYNDROME, PROGEROID FORM 		0.500 Biomarker disease GENOMICS_ENGLAND