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Novel |
GBA2 |
glucosylceramidase beta 2 |
- Glycosphingolipid metabolism
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Novel |
TMEM8B |
transmembrane protein 8B |
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ASB13 |
ankyrin repeat and SOCS box containing 13 |
- Neddylation
- Antigen processing: Ubiquitination & Proteasome degradation
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ATPAF2 |
ATP synthase mitochondrial F1 complex assembly factor 2 |
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- Mitochondrial respiratory chain deficiencies (MRCD), including: Mitochondrial complex I deficiency (MT-C1D); Complex II deficiency (MT-C2D); Complex III deficiency (MT-C3D); Complex IV deficiency (MT-C4D); Complex V deficiency (MT-ATPSD); Leigh syndrome (LS); Kearns-Sayre Syndrome (KSS); LCHD deficiency (LCHD); Leber Hereditary Optic Neuropathy (LHON); Myoclonic Epilepsy and Ragged-Red Fiber Disease (MERRF); NARP; MELAS; ACAD9 deficiency; HADH deficiency; HIBCH deficiency; GRACILE syndrome
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BANP |
BTG3 associated nuclear protein |
- Regulation of TP53 Activity through Association with Co-factors
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C10orf55 |
chromosome 10 putative open reading frame 55 |
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CREM |
cAMP responsive element modulator |
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DAZAP2 |
DAZ associated protein 2 |
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EFHC1 |
EF-hand domain containing 1 |
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- Idiopathic generalied epilepsies (IGEs), including: Childhood absence epilepsy (CAE); Juvenile absence epilepsy (JAE); Juvenile myoclonic epilepsy (JME); Epilepsy with generalized tonic-clonic seizures alone
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FAM168B |
family with sequence similarity 168 member B |
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FNDC3B |
fibronectin type III domain containing 3B |
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FOXH1 |
forkhead box H1 |
- Signaling by NODAL
- Signaling by Activin
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HGS |
hepatocyte growth factor-regulated tyrosine kinase substrate |
- EGFR downregulation
- Lysosome Vesicle Biogenesis
- Ub-specific processing proteases
- Negative regulation of MET activity
- Cargo recognition for clathrin-mediated endocytosis
- Clathrin-mediated endocytosis
- InlB-mediated entry of Listeria monocytogenes into host cell
- Endosomal Sorting Complex Required For Transport (ESCRT)
- Inhibition of membrane repair
- Prevention of phagosomal-lysosomal fusion
- RHOBTB3 ATPase cycle
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IGFN1 |
immunoglobulin like and fibronectin type III domain containing 1 |
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ISX |
intestine specific homeobox |
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ITCH |
itchy E3 ubiquitin protein ligase |
- Downregulation of ERBB4 signaling
- NOD1/2 Signaling Pathway
- Activated NOTCH1 Transmits Signal to the Nucleus
- Activated NOTCH1 Transmits Signal to the Nucleus
- Degradation of GLI1 by the proteasome
- Hedgehog 'on' state
- RUNX1 regulates transcription of genes involved in differentiation of HSCs
- Negative regulators of DDX58/IFIH1 signaling
- Antigen processing: Ubiquitination & Proteasome degradation
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JMJD7 |
jumonji domain containing 7 |
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KANK2 |
KN motif and ankyrin repeat domains 2 |
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KRTAP15-1 |
keratin associated protein 15-1 |
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LCK |
LCK proto-oncogene, Src family tyrosine kinase |
- GPVI-mediated activation cascade
- PIP3 activates AKT signaling
- Signaling by SCF-KIT
- Signaling by SCF-KIT
- Regulation of KIT signaling
- Nef and signal transduction
- Nef Mediated CD4 Down-regulation
- Downstream TCR signaling
- Phosphorylation of CD3 and TCR zeta chains
- Translocation of ZAP-70 to Immunological synapse
- Generation of second messenger molecules
- PECAM1 interactions
- Constitutive Signaling by Aberrant PI3K in Cancer
- DAP12 signaling
- DAP12 signaling
- CD28 co-stimulation
- CD28 dependent PI3K/Akt signaling
- CD28 dependent Vav1 pathway
- CTLA4 inhibitory signaling
- PD-1 signaling
- PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
- Interleukin-2 signaling
- Signaling by phosphorylated juxtamembrane, extracellular and kinase domain KIT mutants
- FLT3 signaling through SRC family kinases
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- Dasatinib
- AP-22408
- Staurosporine
- 1-Tert-Butyl-3-(4-Chloro-Phenyl)-1h-Pyrazolo[3,4-D]Pyrimidin-4-Ylamine
- {4-[(2S)-2-Acetamido-3-({(1S)-1-[3-carbamoyl-4-(cyclohexylmethoxy)phenyl]ethyl}amino)-3-oxopropyl]-2-phosphonophenoxy}acetic acid
- Phosphoaminophosphonic Acid-Adenylate Ester
- 3-(2-AMINOQUINAZOLIN-6-YL)-4-METHYL-N-[3-(TRIFLUOROMETHYL)PHENYL]BENZAMIDE
- 2,3-DIPHENYL-N-(2-PIPERAZIN-1-YLETHYL)FURO[2,3-B]PYRIDIN-4-AMINE
- 5,6-DIPHENYL-N-(2-PIPERAZIN-1-YLETHYL)FURO[2,3-D]PYRIMIDIN-4-AMINE
- N-(2-chlorophenyl)-5-phenylimidazo[1,5-a]pyrazin-8-amine
- N-(2,6-dimethylphenyl)-5-phenylimidazo[1,5-a]pyrazin-8-amine
- N-(2-chloro-6-methylphenyl)-8-[(3S)-3-methylpiperazin-1-yl]imidazo[1,5-a]quinoxalin-4-amine
- Ponatinib
- Nintedanib
- Fostamatinib
- Zanubrutinib
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- Combined immunodeficiencies (CIDs), including the following nine diseases: X-linked hyper IgM syndrome; CD40 deficiency hyper IgM syndrome; Purine nucleoside phosphorylase (PNP) deficiency; Omenn syndrome; MHC deficiency (HLA-class I); MHC deficiency (HLA-class II); Zap-70 deficiency; p56 Lck deficiency; CD8 deficiency
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