NOTCH3, notch receptor 3, 4854

N. diseases: 418; N. variants: 71
Disease: MYOFIBROMATOSIS, INFANTILE, 2 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3809084
Disease: MYOFIBROMATOSIS, INFANTILE, 2
MYOFIBROMATOSIS, INFANTILE, 2 		0.600 GeneticVariation disease UNIPROT Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis. 23731542 2013
CUI: C3809084
Disease: MYOFIBROMATOSIS, INFANTILE, 2
MYOFIBROMATOSIS, INFANTILE, 2 		0.600 Biomarker disease GENOMICS_ENGLAND Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis. 23731542 2013
CUI: C3809084
Disease: MYOFIBROMATOSIS, INFANTILE, 2
MYOFIBROMATOSIS, INFANTILE, 2 		0.600 CausalMutation disease CLINVAR
CUI: C3809084
Disease: MYOFIBROMATOSIS, INFANTILE, 2
MYOFIBROMATOSIS, INFANTILE, 2 		0.600 GeneticVariation disease CLINVAR