View more details at Disease Ontology, MalaCards

Name Development Level Target Family
Isobutyryl-CoA dehydrogenase, mitochondrial Tbio Enzyme
Calcium-binding mitochondrial carrier protein Aralar2 Tbio Transporter
Methylcrotonoyl-CoA carboxylase beta chain, mitochondrial Tbio Enzyme
Transcription initiation factor TFIID subunit 7-like Tbio Non-IDG
Branched-chain-amino-acid aminotransferase, cytosolic Tchem Enzyme
Fumarylacetoacetase Tbio Enzyme
10 kDa heat shock protein, mitochondrial Tbio Non-IDG
Medium-chain specific acyl-CoA dehydrogenase, mitochondrial Tbio Enzyme
2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial Tbio Enzyme
Lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial Tbio Enzyme
Very long-chain specific acyl-CoA dehydrogenase, mitochondrial Tbio Enzyme
Phenylalanine-4-hydroxylase Tclin Enzyme
Ornithine carbamoyltransferase, mitochondrial Tchem Enzyme
Branched-chain-amino-acid aminotransferase, mitochondrial Tchem Enzyme
Dihydrolipoyl dehydrogenase, mitochondrial Tbio Enzyme
[3-methyl-2-oxobutanoate dehydrogenase [lipoamide]] kinase, mitochondrial Tbio Kinase
Hydroxymethylglutaryl-CoA lyase, mitochondrial Tbio Enzyme
2-oxoisovalerate dehydrogenase subunit beta, mitochondrial Tbio Enzyme
Protein phosphatase 1K, mitochondrial Tbio Enzyme
Monocyte to macrophage differentiation factor Tdark Non-IDG
Hydroxyacyl-coenzyme A dehydrogenase, mitochondrial Tbio Enzyme
Short/branched chain specific acyl-CoA dehydrogenase, mitochondrial Tbio Enzyme
Delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial Tbio Enzyme
Protein NipSnap homolog 1 Tbio Non-IDG
Probable proline dehydrogenase 2 Tbio Enzyme
Name Description
TCRDv4.6.0
JensenLab Text Mining
DisGeNET
CLINVAR
ORPHANET
CTD_human
UNIPROT