View more details at Disease Ontology, MalaCards

Name Development Level Target Family
4-hydroxy-2-oxoglutarate aldolase, mitochondrial Tchem Enzyme
AP-4 complex subunit beta-1 Tbio Non-IDG
Atlastin-1 Tbio Non-IDG
AP-4 complex subunit sigma-1 Tdark Non-IDG
AFG3-like protein 2 Tbio Enzyme
Alsin Tbio Non-IDG
Non-lysosomal glucosylceramidase Tchem Enzyme
WAS protein family homolog 1 Tbio Non-IDG
LIM domain-binding protein 1 Tbio Non-IDG
Receptor expression-enhancing protein 2 Tdark Non-IDG
Solute carrier family 12 member 6 Tbio Transporter
WASH complex subunit CCDC53 Tdark Non-IDG
Kinesin heavy chain isoform 5A Tbio Non-IDG
AP-4 complex subunit epsilon-1 Tdark Non-IDG
Kinesin-like protein KIF1A Tbio Non-IDG
WASH complex subunit strumpellin Tbio Non-IDG
ATP-dependent zinc metalloprotease YME1L1 Tbio Enzyme
Sacsin Tbio Non-IDG
AP-5 complex subunit zeta-1 Tbio Transcription Factor
Maspardin Tbio Enzyme
Phospholipase DDHD2 Tbio Enzyme
Erlin-2 Tbio Non-IDG
Tectonin beta-propeller repeat-containing protein 2 Tdark Non-IDG
Phospholipase DDHD1 Tbio Enzyme
WAS protein family homolog 2 Tdark Non-IDG
60S ribosomal protein L34 Tbio Non-IDG
NIPA-like protein 3 Tdark Non-IDG
Transmembrane and TPR repeat-containing protein 1 Tbio Non-IDG
Myelin basic protein Tbio Non-IDG
Paraplegin Tbio Enzyme
Succinate-semialdehyde dehydrogenase, mitochondrial Tclin Enzyme
Monocarboxylate transporter 8 Tbio Transporter
Beta-1,4 N-acetylgalactosaminyltransferase 1 Tbio Enzyme
Kinesin-like protein KIF1C Tbio Non-IDG
Magnesium transporter NIPA1 Tbio Non-IDG
Myelin proteolipid protein Tbio Non-IDG
NEDD4-like E3 ubiquitin-protein ligase WWP1 Tbio Enzyme
Neuropathy target esterase Tchem Enzyme
Probable peptide chain release factor C12orf65, mitochondrial Tbio Enzyme
Cytochrome P450 2U1 Tbio Non-IDG
Reticulon-2 Tbio Non-IDG
60 kDa heat shock protein, mitochondrial Tbio Non-IDG
Bcl2-associated agonist of cell death Tchem Non-IDG
Receptor expression-enhancing protein 1 Tbio Non-IDG
Acetyl-coenzyme A transporter 1 Tchem Transporter
Putative WAS protein family homolog 3 Tbio Non-IDG
Spermatogenesis-associated protein 19, mitochondrial Tbio Non-IDG
Neural cell adhesion molecule L1 Tbio Non-IDG
25-hydroxycholesterol 7-alpha-hydroxylase Tbio Enzyme
E3 ubiquitin-protein ligase Itchy homolog Tbio Enzyme
AP-5 complex subunit beta-1 Tdark Non-IDG
Zinc finger MYM-type protein 2 Tbio Non-IDG
Cytoplasmic dynein 1 heavy chain 1 Tbio Non-IDG
Dynactin subunit 1 Tbio Non-IDG
Atlastin-3 Tbio Non-IDG
Spastin Tbio Non-IDG
Unconventional myosin-Ih Tdark Non-IDG
Isoaspartyl peptidase/L-asparaginase Tbio Enzyme
Kinesin heavy chain isoform 5C Tbio Non-IDG
Gap junction gamma-2 protein Tbio Non-IDG
Protrudin Tbio Non-IDG
Protein bicaudal D homolog 2 Tbio Non-IDG
Seipin Tbio Non-IDG
Spartin Tbio Non-IDG
Zinc finger FYVE domain-containing protein 26 Tbio Non-IDG
Sorting nexin-15 Tdark Non-IDG
Kinesin light chain 4 Tdark Non-IDG
Spatacsin Tbio Non-IDG
Ataxin-3 Tbio Non-IDG
WAS protein family homolog 6 Tdark Non-IDG
Fatty acid 2-hydroxylase Tbio Enzyme
Name Description
TCRDv4.6.0
JensenLab Text Mining
DisGeNET
CTD_human