View more details at Disease Ontology, MalaCards

Name Development Level Target Family
Alpha-N-acetylglucosaminidase Tbio Enzyme
Gap junction alpha-3 protein Tbio Non-IDG
Myotubularin-related protein 13 Tbio Non-IDG
Myotubularin-related protein 2 Tbio Enzyme
Heat shock protein beta-8 Tbio Non-IDG
Homeobox protein Hox-D10 Tbio Transcription Factor
Lipopolysaccharide-induced tumor necrosis factor-alpha factor Tbio Transcription Factor
Tyrosine--tRNA ligase, cytoplasmic Tchem Enzyme
Glycine--tRNA ligase Tbio Enzyme
Transient receptor potential cation channel subfamily V member 4 Tchem Ion Channel
Peripheral myelin protein 22 Tchem Non-IDG
Apoptosis-inducing factor 1, mitochondrial Tbio Non-IDG
Mediator of RNA polymerase II transcription subunit 25 Tbio Enzyme
Myelin protein P0 Tbio Non-IDG
Tektin-3 Tdark Non-IDG
Periaxin Tbio Non-IDG
CMT1A duplicated region transcript 15 protein Tdark Non-IDG
Heat shock protein beta-1 Tchem Non-IDG
Pleckstrin homology domain-containing family G member 5 Tbio Non-IDG
MORC family CW-type zinc finger protein 2 Tbio Non-IDG
Ras-related protein Rab-7a Tbio Enzyme
Rho guanine nucleotide exchange factor 10 Tbio Non-IDG
Alanine--tRNA ligase, cytoplasmic Tbio Enzyme
Dynamin-2 Tchem Non-IDG
1-acyl-sn-glycerol-3-phosphate acyltransferase beta Tchem Enzyme
Prelamin-A/C Tbio Non-IDG
Histidine--tRNA ligase, cytoplasmic Tchem Enzyme
Laminin subunit alpha-2 Tbio Non-IDG
Cytochrome c oxidase subunit 6A1, mitochondrial Tbio Enzyme
Neurofilament heavy polypeptide Tbio Non-IDG
Inverted formin-2 Tbio Non-IDG
DnaJ homolog subfamily B member 2 Tbio Non-IDG
DNA-binding protein SMUBP-2 Tbio Non-IDG
E3 SUMO-protein ligase EGR2 Tbio Transcription Factor
Gap junction gamma-3 protein Tbio Non-IDG
Gap junction beta-1 protein Tbio Non-IDG
Polyphosphoinositide phosphatase Tbio Enzyme
Solute carrier family 25 member 46 Tbio Transporter
Protein NDRG1 Tbio Non-IDG
Probable peptide chain release factor C12orf65, mitochondrial Tbio Enzyme
Probable helicase senataxin Tbio Enzyme
Lysine--tRNA ligase Tchem Enzyme
Receptor expression-enhancing protein 1 Tbio Non-IDG
Methionine--tRNA ligase, cytoplasmic Tchem Enzyme
Neurofilament light polypeptide Tbio Non-IDG
[Pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 3, mitochondrial Tbio Kinase
Neprilysin Tclin Enzyme
Ganglioside-induced differentiation-associated protein 1 Tbio Non-IDG
Protein TFG Tbio Non-IDG
Ribose-phosphate pyrophosphokinase 1 Tbio Kinase
Mitofusin-2 Tbio Non-IDG
Fibulin-5 Tbio Non-IDG
Cytoplasmic dynein 1 heavy chain 1 Tbio Non-IDG
Dynactin subunit 1 Tbio Non-IDG
Surfeit locus protein 1 Tbio Non-IDG
N-alpha-acetyltransferase 50 Tbio Enzyme
Mitochondrial fission factor Tbio Non-IDG
Myotubularin-related protein 5 Tbio Non-IDG
DNA polymerase subunit gamma-1 Tchem Enzyme
Probable 2-oxoglutarate dehydrogenase E1 component DHKTD1, mitochondrial Tbio Enzyme
SH3 domain and tetratricopeptide repeat-containing protein 2 Tbio Non-IDG
Transitional endoplasmic reticulum ATPase Tchem Enzyme
SH3 domain and tetratricopeptide repeat-containing protein 1 Tdark Non-IDG
Hexokinase-1 Tchem Kinase
Kinesin-like protein KIF1B Tchem Non-IDG
Seipin Tbio Non-IDG
Myotubularin-related protein 6 Tbio Enzyme
Guanine nucleotide-binding protein subunit beta-4 Tbio Non-IDG
Ganglioside-induced differentiation-associated protein 1-like 1 Tdark Non-IDG
FYVE, RhoGEF and PH domain-containing protein 4 Tbio Non-IDG
Tripartite motif-containing protein 2 Tbio Non-IDG
Kelch domain-containing protein 10 Tbio Non-IDG
Spatacsin Tbio Non-IDG
E3 ubiquitin-protein ligase LRSAM1 Tbio Enzyme
Name Description
TCRDv4.6.0
JensenLab Text Mining
DisGeNET
CLINVAR
CTD_human
JensenLab Knowledge GHR
JensenLab Knowledge UniProtKB-KW