Spondyloepiphyseal dysplasia

Disease Term Disease ID Gene Symbol Classification References Source
Spondyloepimetaphyseal dysplasia, aggrecan type 171866 ACAN Causal Pathogenic evidence from ClinVar - ClinVar
Spondyloepimetaphyseal Dysplasia, Aggrecan Type C2748544 ACAN Causal Pathogenic evidence from ClinVar 19110214, 27870580 ClinVar
Spondyloepiphyseal Dysplasia C0038015 ACAN Causal Pathogenic evidence from ClinVar - ClinVar
COL2A1 Causal Pathogenic evidence from ClinVar 8486375 ClinVar
GLB1 Causal Pathogenic evidence from ClinVar 817853 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 -
CHST3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 30200136 -
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 -
HSPG2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 10545953, 11279527 -
IARS2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
KDR Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 17954590 -
MBTPS1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
RNU4ATAC Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
RPL10 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
SMARCAL1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
SOST Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
TRAPPC2 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, Kimberley type 93283 ACAN Causal Pathogenic evidence from ClinVar - ClinVar
Spondyloepiphyseal Dysplasia, Kimberley Type C1842149 ACAN Causal Pathogenic evidence from ClinVar 16080123, 24762113, 27870580 ClinVar
Spondyloepiphyseal dysplasia, Stanescu type 459051 COL2A1 Causal Pathogenic evidence from ClinVar - ClinVar
SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE C4225273 COL2A1 Causal Pathogenic evidence from ClinVar 1881905, 1946380, 8325895, 26183434, 26420734 ClinVar
Spondyloepimetaphyseal dysplasia, matrilin-3 type 156728 MATN3 Causal Pathogenic evidence from ClinVar - ClinVar
Spondyloepimetaphyseal Dysplasia, Pakistani Type C2748515 PAPSS2 Causal Pathogenic evidence from ClinVar 9714015, 9771708, 19474428, 22791835, 23633440, 23824674, 25594860 ClinVar
Spondyloepimetaphyseal dysplasia, PAPSS2 type 93282 PAPSS2 Causal Pathogenic evidence from ClinVar - ClinVar
Spondyloepiphyseal dysplasia, Nishimura type 163649 MIR140 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, FADEN-ALKURAYA TYPE C4225232 RSPRY1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 26365341 -
Spondyloepiphyseal dysplasia, Maroteaux type 263482 TRPV4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE C3159322 TRPV4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 20503319 -