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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
SCHWARTZ-JAMPEL SYNDROME HSPG2 Causal Disgenet, GenCC, Orphanet
LDLRAD2 Unknown — Disgenet —
SCHWARTZ-JAMPEL SYNDROME TYPE 1 HSPG2 Causal ClinGen, ClinVar, HPO
SCHWARTZ-JAMPEL SYNDROME, TYPE 1 GNA11 Unknown — Disgenet
HSPG2 Unknown Disgenet, HPO
LDLRAD2 Unknown — Disgenet —
All3 Causal1 Unknown3