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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
3-METHYLGLUTACONIC ACIDURIA TYPE 1 AUH Causal GWAS catalog, ClinGen
3-METHYLGLUTACONIC ACIDURIA TYPE 3 OPA3 Causal — GenCC —
3-METHYLGLUTACONIC ACIDURIA TYPE 5 DNAJC19 Causal CTD, ClinGen —
3-METHYLGLUTACONIC ACIDURIA TYPE 8 HTRA2 Causal Orphanet, ClinGen
3-METHYLGLUTACONIC ACIDURIA TYPE 9 TIMM50 Causal Orphanet, ClinGen —
3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME SERAC1 Causal GWAS catalog —
3-METHYLGLUTACONIC ACIDURIA, TYPE VIIB CLPB Causal CTD
All8 Causal7 Unknown1