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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
ECTOPIA LENTIS ADAMTSL4 Causal — Disgenet
ECTOPIA LENTIS FBN1 Causal CTD, Disgenet
ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT FBN1 Causal CTD, ClinVar, Disgenet, HPO
ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE ADAMTSL4 Causal CTD, ClinVar, Disgenet, GWAS catalog, HPO
ECTOPIA LENTIS ET PUPILLAE ADAMTSL4 Causal — ClinVar, GenCC, HPO
All3 Causal2 Unknown3