Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265343
Disease: Jarcho-Levin syndrome
Jarcho-Levin syndrome
0.440 GeneticVariation disease BEFREE Introduction of a point of mutation into HES7, a specific mutation previously associated with clinical SCDO, eliminated clock gene oscillations, successfully reproducing the defects in the segmentation clock. 31461642 2019
CUI: C0265343
Disease: Jarcho-Levin syndrome
Jarcho-Levin syndrome
0.440 GeneticVariation disease BEFREE Mutation of HES7 in a large extended family with spondylocostal dysostosis and dextrocardia with situs inversus. 23897666 2013
CUI: C0265343
Disease: Jarcho-Levin syndrome
Jarcho-Levin syndrome
0.440 GeneticVariation disease BEFREE Two novel missense mutations in HAIRY-AND-ENHANCER-OF-SPLIT-7 in a family with spondylocostal dysostosis. 20087400 2010
CUI: C0265343
Disease: Jarcho-Levin syndrome
Jarcho-Levin syndrome
0.440 GeneticVariation disease BEFREE Mutation of Hairy-and-Enhancer-of-Split-7 in humans causes spondylocostal dysostosis. 18775957 2008
CUI: C0265343
Disease: Jarcho-Levin syndrome
Jarcho-Levin syndrome
0.440 Biomarker disease GENOMICS_ENGLAND
CUI: C0265343
Disease: Jarcho-Levin syndrome
Jarcho-Levin syndrome
0.440 CausalMutation disease CLINVAR