Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4038
Gene Symbol: LRP4
LRP4
0.460 GeneticVariation disease BEFREE Our study broadens the pathogenic spectrum of LRP4 gene in syndactyly syndromes. 31750994 2020
Entrez Id: 4038
Gene Symbol: LRP4
LRP4
0.460 GeneticVariation disease BEFREE This recessive mutation in LRP4 confirmed the diagnosis of CLS syndrome in two patients present with isolated hand syndactyly. 30041615 2018
Entrez Id: 4038
Gene Symbol: LRP4
LRP4
0.460 Biomarker disease BEFREE In contrast, the syndactyly of SOST2 is particularly striking by involving bony fusion of some digits. 30077757 2018
Entrez Id: 4038
Gene Symbol: LRP4
LRP4
0.460 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
Entrez Id: 4038
Gene Symbol: LRP4
LRP4
0.460 GeneticVariation disease BEFREE In contrast to the human sclerosteosis phenotype, we could not observe syndactyly in the forelimbs or hindlimbs of the Lrp4 KI animals. 28477420 2017
Entrez Id: 4038
Gene Symbol: LRP4
LRP4
0.460 GeneticVariation disease BEFREE These findings confirm that autosomal recessive loss-of-function mutations in Megf7/Lrp4 result in phenotypically similar forms of syndactyly in different mammalian species and that such mutations are the cause of MFD in bovines. 16963222 2006
Entrez Id: 4038
Gene Symbol: LRP4
LRP4
0.460 Biomarker disease CTD_human Abnormal development of the apical ectodermal ridge and polysyndactyly in Megf7-deficient mice. 16207730 2005
Entrez Id: 4038
Gene Symbol: LRP4
LRP4
0.460 Biomarker disease HPO