Disease: Osteochondrodysplasias ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias 		0.360 GeneticVariation group LHGDN [Identification of a missense mutation in SEDL gene from a Chinese family with X-linked spondyloepiphyseal dysplasia tarda]. 18247296 2008
CUI: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias 		0.360 AlteredExpression group LHGDN Mutation of acceptor splice site of the SEDL gene in X-linked spondyloepiphyseal dysplasia tarda causes the activation of cryptic splice site. 15952107 2005
CUI: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias 		0.360 GeneticVariation group LHGDN X-linked spondyloepiphyseal dysplasia tarda: Novel and recurrent mutations in 13 European families. 15221797 2004
CUI: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias 		0.360 GeneticVariation group LHGDN [Identification of a novel mutation IVS2-2A-->C of SEDL gene in a Chinese family with X-linked spondyloepiphyseal dysplasia tarda]. 12579492 2003
CUI: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias 		0.360 GeneticVariation group LHGDN A single nucleotide deletion of 293delT in SEDL gene causing spondyloepiphyseal dysplasia tarda in a four-generation Chinese family. 12650905 2003
CUI: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias 		0.360 GeneticVariation group BEFREE The results of our study expand the spectrum of SEDLIN mutations associated with SEDT, and this will help to elucidate further the role of this novel protein in the etiology of this form of osteochondrodysplasia. 11443194 2001
CUI: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias 		0.360 Biomarker group CTD_human