Spondylocostal dysostosis

Disease Term Disease ID Gene Symbol Classification References Source
Autosomal recessive spondylocostal dysostosis 2311 DLL3 Causal Pathogenic evidence from ClinVar - ClinVar
HES7 Causal Pathogenic evidence from ClinVar - ClinVar
LFNG Causal Pathogenic evidence from ClinVar - ClinVar
MESP2 Causal Pathogenic evidence from ClinVar - ClinVar
RIPPLY2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 2 C1837549 DLL3 Causal Pathogenic evidence from ClinVar - ClinVar
HES7 Causal Pathogenic evidence from ClinVar - ClinVar
LFNG Causal Pathogenic evidence from ClinVar - ClinVar
MESP2 Causal Pathogenic evidence from ClinVar 15122512, 18485326 ClinVar
RIPPLY2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 3 C1853296 DLL3 Causal Pathogenic evidence from ClinVar - ClinVar
HES7 Causal Pathogenic evidence from ClinVar - ClinVar
LFNG Causal Pathogenic evidence from ClinVar 16385447, 27604308 ClinVar
MESP2 Causal Pathogenic evidence from ClinVar - ClinVar
RIPPLY2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE C3150942 HES7 Causal Pathogenic evidence from ClinVar 18775957, 20087400 ClinVar
SPONDYLOCOSTAL DYSOSTOSIS 5 C4083048 HES7 Causal Pathogenic evidence from ClinVar - ClinVar
TBX6 Causal Pathogenic evidence from ClinVar 23335591, 25564734 ClinVar
Autosomal dominant spondylocostal dysostosis 1797, C4274761 TBX6 Causal Pathogenic evidence from ClinVar 23335591 ClinVar
SPONDYLOCOSTAL DYSOSTOSIS 6, AUTOSOMAL RECESSIVE C4225279 RIPPLY2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 25343988 -