Spondyloenchondrodysplasia

Disease Term Disease ID Gene Symbol Classification References Source
Spondyloepiphyseal Dysplasia Tarda, X-Linked C3541456 CHST3 Causal Pathogenic evidence from ClinVar 30200136 ClinVar
COL2A1 Causal Pathogenic evidence from ClinVar 8486375 ClinVar
TRAPPC2 Causal Pathogenic evidence from ClinVar 10431248, 11349230, 11424925 ClinVar
ADAMTSL2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 18677313 -
BCL2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 17954590 -
COL11A1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 19638309 -
COL9A1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 11565064, 16909383 -
DLL3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 11146471 -
FLNA Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 12612583 -
FLT1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 17954590 -
GLB1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 817853 -
HSPG2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 10545953, 11279527 -
KDR Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 17954590 -
SOST Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
TRPV4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 18587396 -
VEGFA Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 24235232 -
Spondyloepiphyseal dysplasia, Omani type C1837657 CHST3 Causal Pathogenic evidence from ClinVar 15215498, 18513679, 20830804, 27604308 ClinVar
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, KRAKOW TYPE C4748455 SIK3 Causal Pathogenic evidence from ClinVar 22318228, 30232230 ClinVar
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE C4693799 UFSP2 Causal Pathogenic evidence from ClinVar 21228277, 28892125 ClinVar
Spondyloenchondrodysplasia 1855, C0432222 ACP5 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 21217752, 21217755 -
Spondyloepimetaphyseal Dysplasia, X-Linked C1848097 BGN Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 27236923, 27632686 -
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related C1837481 MATN3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 15121775, 16287128 -
Spondyloepimetaphyseal dysplasia, sponastrime type C1300260 TONSL Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 30773277, 30773278 -