Disease: SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3150942
Disease: SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE
SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE 		0.600 GeneticVariation disease UNIPROT Two novel missense mutations in HAIRY-AND-ENHANCER-OF-SPLIT-7 in a family with spondylocostal dysostosis. 20087400 2010
CUI: C3150942
Disease: SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE
SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE 		0.600 GeneticVariation disease UNIPROT Mutation of Hairy-and-Enhancer-of-Split-7 in humans causes spondylocostal dysostosis. 18775957 2008
CUI: C3150942
Disease: SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE
SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE 		0.600 GeneticVariation disease CLINVAR
CUI: C3150942
Disease: SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE
SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE 		0.600 Biomarker disease GENOMICS_ENGLAND