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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
AUTOSOMAL RECESSIVE SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE TYPE PAM16 Causal Orphanet, ClinVar, Disgenet —
SPONDYLOMETAPHYSEAL DYSPLASIA FN1 Causal — Disgenet
SPONDYLOMETAPHYSEAL DYSPLASIA - SUTCLIFFE TYPE
COL2A1 Causal — ClinVar
FN1 Causal — ClinVar
SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY PLCB3 Causal ClinVar, GWAS catalog, HPO
Inositol phosphate metabolism Metabolic pathways Rap1 signaling pathway +67 more
SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE TRPV4 Causal CTD, ClinVar, Disgenet, HPO, Orphanet
SPONDYLOMETAPHYSEAL DYSPLASIA, PAGNAMENTA TYPE PRKG2 Causal — ClinVar, Disgenet, HPO
SPONDYLOMETAPHYSEAL DYSPLASIA, SCHMIDT TYPE COL2A1 Causal ClinVar, GWAS catalog, Orphanet
SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE GPX4 Causal CTD, ClinVar, Disgenet, HPO, Orphanet
SPONDYLOMETAPHYSEAL DYSPLASIA-CONE-ROD DYSTROPHY SYNDROME PCYT1A Causal ClinGen, ClinVar, GWAS catalog, Orphanet
All14 Causal8 Unknown12