WNT1, Wnt family member 1, 7471

N. diseases: 216; N. variants: 12
Disease: Osteogenesis imperfecta type IV (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268363
Disease: Osteogenesis imperfecta type IV (disorder)
Osteogenesis imperfecta type IV (disorder) 		0.310 GeneticVariation disease BEFREE Recessive inactivating mutations in WNT1 are a new cause of OI type IV. 23434763 2013
CUI: C0268363
Disease: Osteogenesis imperfecta type IV (disorder)
Osteogenesis imperfecta type IV (disorder) 		0.310 GermlineCausalMutation disease ORPHANET Recessive inactivating mutations in WNT1 are a new cause of OI type IV. 23434763 2013
CUI: C0268363
Disease: Osteogenesis imperfecta type IV (disorder)
Osteogenesis imperfecta type IV (disorder) 		0.310 GermlineCausalMutation disease ORPHANET What is new in genetics and osteogenesis imperfecta classification? 25046257 2015