CCN6, cellular communication network factor 6, 8838

N. diseases: 126; N. variants: 21
Disease: Spondyloepiphyseal dysplasia, congenita ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2745959
Disease: Spondyloepiphyseal dysplasia, congenita
Spondyloepiphyseal dysplasia, congenita 		0.210 GeneticVariation disease BEFREE Progressive pseudorheumatoid dysplasia (PPRD) is a rare, autosomal-recessive condition characterized by mild spondyloepiphyseal dysplasia (SED) and severe, progressive, early-onset arthritis due to WISP3 mutations. 26183434 2015
CUI: C2745959
Disease: Spondyloepiphyseal dysplasia, congenita
Spondyloepiphyseal dysplasia, congenita 		0.210 Biomarker disease MGD A Wisp3 Cre-knockin allele produces efficient recombination in spermatocytes during early prophase of meiosis I. 24040393 2013
CUI: C2745959
Disease: Spondyloepiphyseal dysplasia, congenita
Spondyloepiphyseal dysplasia, congenita 		0.210 Biomarker disease MGD WISP3, the gene responsible for the human skeletal disease progressive pseudorheumatoid dysplasia, is not essential for skeletal function in mice. 15601861 2005