Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7471
Gene Symbol: WNT1
WNT1
0.700 GeneticVariation disease BEFREE Human genetic evidence demonstrates that WNT1 mutations cause osteogenesis imperfecta (OI) and early-onset osteoporosis, implicating WNT1 as a major regulator of bone metabolism. 30690791 2019
Entrez Id: 7471
Gene Symbol: WNT1
WNT1
0.700 GeneticVariation disease BEFREE Cohort comprised mutation-positive (N = 13; age 17-76 years) and mutation-negative (N = 13; 16-77 years) subjects from two Finnish families with autosomal dominant WNT1 osteoporosis due to a heterozygous missense mutation c.652T>G (p.C218G) in WNT1. 31299386 2019
Entrez Id: 7471
Gene Symbol: WNT1
WNT1
0.700 GeneticVariation disease BEFREE Heterozygous WNT1 mutations have been linked to autosomal dominant early-onset osteoporosis. 30896082 2019
Entrez Id: 7471
Gene Symbol: WNT1
WNT1
0.700 GeneticVariation disease BEFREE We aimed to explore bone marrow findings in a large family with early-onset osteoporosis due to a heterozygous WNT1 mutation. 29147753 2018
Entrez Id: 7471
Gene Symbol: WNT1
WNT1
0.700 GeneticVariation disease BEFREE Altogether, 12 mutation-positive (MP) subjects (median age, 39 years; range, 11 to 76 years) and 12 mutation-negative (MN) subjects (35 years; range, 9 to 59 years) from two Finnish families with WNT1 osteoporosis due to the heterozygous p.C218G WNT1 mutation. 29506076 2018
Entrez Id: 7471
Gene Symbol: WNT1
WNT1
0.700 GeneticVariation disease BEFREE Heterozygous missense variants in WNT1 are responsible for early-onset osteoporosis with variable bone phenotypes. 30246918 2018
Entrez Id: 7471
Gene Symbol: WNT1
WNT1
0.700 Biomarker disease BEFREE The identification of Wnt1 as a regulator of bone formation and remodeling provides the basis for development of Wnt1-targeting drugs for the treatment of osteoporosis. 30404864 2018
Entrez Id: 7471
Gene Symbol: WNT1
WNT1
0.700 GeneticVariation disease BEFREE Patients carrying homozygous WNT1 mutations have more frequent fractures while heterozygous carriers of the mutation in WNT1 gene are also found to have early onset osteoporosis. 29481978 2018
Entrez Id: 7471
Gene Symbol: WNT1
WNT1
0.700 Biomarker disease BEFREE Collectively, our data suggest that WNT1-related OI and osteoporosis are caused in part by decreased mTORC1-dependent osteoblast function resulting from loss of WNT1 signaling in osteocytes. 28628032 2017
Entrez Id: 7471
Gene Symbol: WNT1
WNT1
0.700 Biomarker disease BEFREE The implication of WNT1 in the control of bone formation identifies a potential new target for the treatment of low bone mass disorders, such as osteoporosis. 28628035 2017
Entrez Id: 7471
Gene Symbol: WNT1
WNT1
0.700 GeneticVariation disease BEFREE Patients with WNT1 or PLS3 mutation-related osteoporosis responded to teriparatide treatment. 27732335 2017
Entrez Id: 7471
Gene Symbol: WNT1
WNT1
0.700 GeneticVariation disease BEFREE To evaluate the relationship between osteocyte-specific protein expression and bone histology in patients with monogenic osteoporosis due to wingless integration site 1 (WNT1) or plastin 3 (PLS3) mutations. 28379384 2017
Entrez Id: 7471
Gene Symbol: WNT1
WNT1
0.700 GeneticVariation disease BEFREE Recently, loss-of-function mutations of WNT1 have been reported to be causative in OI or osteoporosis. 28528193 2017
Entrez Id: 7471
Gene Symbol: WNT1
WNT1
0.700 GeneticVariation disease BEFREE We have identified two large Finnish families with early-onset osteoporosis due to a heterozygous WNT1 mutation c.652T>G, p.C218G. 28411110 2017
Entrez Id: 7471
Gene Symbol: WNT1
WNT1
0.700 GeneticVariation disease BEFREE Here we report clinical findings of the WNT1 osteoporosis in 8 children and young adults (median age 14 years; range 10 to 30 years) in two families, all with the p.C218G mutation in WNT1. 27005318 2016
Entrez Id: 7471
Gene Symbol: WNT1
WNT1
0.700 Biomarker disease BEFREE These observations suggest that more effective treatment approaches are needed for children with recessive WNT1-related bone fragility and that a systematic work-up for osteoporosis is warranted for WNT1 mutation carriers in these families. 25010833 2014
Entrez Id: 7471
Gene Symbol: WNT1
WNT1
0.700 GeneticVariation disease BEFREE Recently, our group and others reported that WNT1 recessive mutations cause OI, whereas WNT1 heterozygous mutations cause early onset osteoporosis. 24634143 2014
Entrez Id: 7471
Gene Symbol: WNT1
WNT1
0.700 GeneticVariation disease UNIPROT In addition, in a family affected by dominantly inherited early-onset osteoporosis, a heterozygous WNT1 missense mutation was identified in affected individuals. 23499309 2013
Entrez Id: 7471
Gene Symbol: WNT1
WNT1
0.700 GeneticVariation disease UNIPROT In 10 family members with dominantly inherited, early-onset osteoporosis, we identified a heterozygous missense mutation in WNT1, c.652T→G (p.Cys218Gly). 23656646 2013
Entrez Id: 7471
Gene Symbol: WNT1
WNT1
0.700 GeneticVariation disease BEFREE WNT1 mutations in early-onset osteoporosis and osteogenesis imperfecta. 23656646 2013
Entrez Id: 7471
Gene Symbol: WNT1
WNT1
0.700 Biomarker disease HPO
Entrez Id: 7471
Gene Symbol: WNT1
WNT1
0.700 Biomarker disease CTD_human