WNT1, Wnt family member 1, 7471

N. diseases: 216; N. variants: 12
Disease: OSTEOGENESIS IMPERFECTA, TYPE XV ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3808844
Disease: OSTEOGENESIS IMPERFECTA, TYPE XV
OSTEOGENESIS IMPERFECTA, TYPE XV 		0.700 GeneticVariation disease UNIPROT Novel missense loss-of-function mutations of WNT1 in an autosomal recessive Osteogenesis imperfecta patient. 28528193 2017
CUI: C3808844
Disease: OSTEOGENESIS IMPERFECTA, TYPE XV
OSTEOGENESIS IMPERFECTA, TYPE XV 		0.700 GeneticVariation disease UNIPROT Mutations in WNT1 are a cause of osteogenesis imperfecta. 23434763 2013
CUI: C3808844
Disease: OSTEOGENESIS IMPERFECTA, TYPE XV
OSTEOGENESIS IMPERFECTA, TYPE XV 		0.700 GeneticVariation disease UNIPROT WNT1 mutations in families affected by moderately severe and progressive recessive osteogenesis imperfecta. 23499310 2013
CUI: C3808844
Disease: OSTEOGENESIS IMPERFECTA, TYPE XV
OSTEOGENESIS IMPERFECTA, TYPE XV 		0.700 GeneticVariation disease UNIPROT WNT1 mutations in early-onset osteoporosis and osteogenesis imperfecta. 23656646 2013
CUI: C3808844
Disease: OSTEOGENESIS IMPERFECTA, TYPE XV
OSTEOGENESIS IMPERFECTA, TYPE XV 		0.700 GeneticVariation disease UNIPROT Mutations in WNT1 cause different forms of bone fragility. 23499309 2013
CUI: C3808844
Disease: OSTEOGENESIS IMPERFECTA, TYPE XV
OSTEOGENESIS IMPERFECTA, TYPE XV 		0.700 Biomarker disease GENOMICS_ENGLAND Imaging techniques for measuring adipose-tissue distribution--a comparison between computed tomography and 1.5-T magnetic resonance. 2349931 1990
CUI: C3808844
Disease: OSTEOGENESIS IMPERFECTA, TYPE XV
OSTEOGENESIS IMPERFECTA, TYPE XV 		0.700 CausalMutation disease CLINVAR
CUI: C3808844
Disease: OSTEOGENESIS IMPERFECTA, TYPE XV
OSTEOGENESIS IMPERFECTA, TYPE XV 		0.700 GeneticVariation disease CLINVAR
CUI: C3808844
Disease: OSTEOGENESIS IMPERFECTA, TYPE XV
OSTEOGENESIS IMPERFECTA, TYPE XV 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C3808844
Disease: OSTEOGENESIS IMPERFECTA, TYPE XV
OSTEOGENESIS IMPERFECTA, TYPE XV 		0.700 Biomarker disease CTD_human