LRP4, LDL receptor related protein 4, 4038

N. diseases: 151; N. variants: 23
Disease: SCLEROSTEOSIS 2 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3280402
Disease: SCLEROSTEOSIS 2
SCLEROSTEOSIS 2 		0.820 GeneticVariation disease BEFREE Variants in LRP4 have been previously associated with syndactyly in Cenani-Lenz syndactyly syndrome and Sclerosteosis 2, but have not been reported in individuals with isolated syndactyly. 29524275 2018
CUI: C3280402
Disease: SCLEROSTEOSIS 2
SCLEROSTEOSIS 2 		0.820 GeneticVariation disease BEFREE Mutations in the LRP4 3rd beta-propeller domain were previously reported to impair Wnt signaling and cause bone diseases including Cenani-Lenz syndactyly syndrome and sclerosteosis-2. 24234652 2014
CUI: C3280402
Disease: SCLEROSTEOSIS 2
SCLEROSTEOSIS 2 		0.820 GeneticVariation disease UNIPROT Mutations in the LRP4 3rd beta-propeller domain were previously reported to impair Wnt signaling and cause bone diseases including Cenani-Lenz syndactyly syndrome and sclerosteosis-2. 24234652 2014
CUI: C3280402
Disease: SCLEROSTEOSIS 2
SCLEROSTEOSIS 2 		0.820 GeneticVariation disease UNIPROT Bone overgrowth-associated mutations in the LRP4 gene impair sclerostin facilitator function. 21471202 2011
CUI: C3280402
Disease: SCLEROSTEOSIS 2
SCLEROSTEOSIS 2 		0.820 CausalMutation disease CLINVAR
CUI: C3280402
Disease: SCLEROSTEOSIS 2
SCLEROSTEOSIS 2 		0.820 Biomarker disease GENOMICS_ENGLAND
CUI: C3280402
Disease: SCLEROSTEOSIS 2
SCLEROSTEOSIS 2 		0.820 Biomarker disease GENOMICS_ENGLAND
CUI: C3280402
Disease: SCLEROSTEOSIS 2
SCLEROSTEOSIS 2 		0.820 Biomarker disease MGD