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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
SKELETAL DYSPLASIA COL1A2 Causal — Disgenet
COPB1 Causal — Disgenet
GALNS Causal — Disgenet
TRPV4 Causal — Disgenet
SKELETAL DYSPLASIA AND PROGRESSIVE CENTRAL NERVOUS SYSTEM DEGENERATION, LETHAL TRPV4 Causal — Disgenet
SKELETAL DYSPLASIA WITH ACANTHOSIS NIGRICANS FGFR3 Causal — Disgenet
SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE CSGALNACT1 Causal ClinGen, Disgenet, GWAS catalog, HPO
All23 Causal6 Unknown18