|
|
PPP1CA |
protein phosphatase 1 catalytic subunit alpha |
- Triglyceride catabolism
- DARPP-32 events
- Downregulation of TGF-beta receptor signaling
- Circadian Clock
|
- 2,6,8-Trimethyl-3-Amino-9-Benzyl-9-Methoxynonanoic Acid
|
|
|
|
PRKDC |
protein kinase, DNA-activated, catalytic subunit |
- Cytosolic sensors of pathogen-associated DNA
- IRF3-mediated induction of type I IFN
- Nonhomologous End-Joining (NHEJ)
- E3 ubiquitin ligases ubiquitinate target proteins
|
|
|
|
|
S100A8 |
S100 calcium binding protein A8 |
- RHO GTPases Activate NADPH Oxidases
- Regulation of TLR by endogenous ligand
- Neutrophil degranulation
- Metal sequestration by antimicrobial proteins
|
- Calcium
- Zinc
- Copper
- Zinc acetate
- Zinc chloride
- Zinc sulfate, unspecified form
|
|
|
|
STK11 |
serine/threonine kinase 11 |
- AMPK inhibits chREBP transcriptional activation activity
- Energy dependent regulation of mTOR by LKB1-AMPK
- Regulation of TP53 Activity through Phosphorylation
- FOXO-mediated transcription of cell death genes
|
|
- Peutz-Jeghers syndrome
- Pancreatic cancer
|
|
|
SYVN1 |
synoviolin 1 |
- XBP1(S) activates chaperone genes
- Hedgehog ligand biogenesis
- Hh mutants are degraded by ERAD
- ER Quality Control Compartment (ERQC)
|
|
|
|
|
TEC |
tec protein tyrosine kinase |
- Signaling by SCF-KIT
- FCERI mediated Ca+2 mobilization
- FCERI mediated Ca+2 mobilization
- Interleukin-3, Interleukin-5 and GM-CSF signaling
|
- Fostamatinib
- Zanubrutinib
|
|
|
|
TWIST1 |
twist family bHLH transcription factor 1 |
- Interleukin-4 and Interleukin-13 signaling
- Transcriptional regulation by RUNX2
- Regulation of RUNX2 expression and activity
- Regulation of RUNX2 expression and activity
|
|
- Craniosynostosis, including: Pfeiffer syndrome; Apert syndrome; Crouzon syndrome; Jackson-Weiss syndrome; Beare-Stevenson syndrome; Muenke craniosynostosis; Saethre-Chotzen syndrome; Craniosynostosis Boston type; Antley-Bixler syndrome; Carpenter syndrome; Craniofrontonasal dysplasia; Noonan syndrome; Baller-Gerold syndrome
|
|
|
USP21 |
ubiquitin specific peptidase 21 |
- TNFR1-induced proapoptotic signaling
- Regulation of TNFR1 signaling
- TNFR1-induced NFkappaB signaling pathway
- Ub-specific processing proteases
|
|
|
|
|
ANK2 |
ankyrin 2 |
- Interaction between L1 and Ankyrins
- Interaction between L1 and Ankyrins
- COPI-mediated anterograde transport
|
|
- Long QT syndrome, including: Romano-Ward syndrome; Jervell and Lange-Nielsen syndrome (JLNS)
|
|
|
ATRX |
ATRX chromatin remodeler |
- Inhibition of DNA recombination at telomere
- Defective Inhibition of DNA Recombination at Telomere Due to DAXX Mutations
- Defective Inhibition of DNA Recombination at Telomere Due to ATRX Mutations
|
|
- Syndromic X-linked mental retardation with epilepsy or seizures, including: West syndrome (WS); Partington syndrome (PRTS); Proud syndrome (ACCAG); XMR and epilepsy (XMRE); MRXHF1; XMR OPHN1-related (MRXSO) ; XELBD; XMR, Christianson type (MRXSC); Creatine deficiency syndrome (XL-CDS); Renpenning syndrome (RENS1); Epilepsy and mental retardation limited to females (EFMR); Periventricular nodular heterotopia (PVNH); Hydrocephalus (XLH); XMR, JARID1C related (MRXSJ); Boerjeson-Forssman syndrome (BFLS); CK syndrome (CKS)
- Thalassemia; Alpha thalassemia; Beta thalassemia; Alpha thalassemia, X-linked (ATRX)
- Non-syndromic X-linked mental retardation
- 46,XY disorders of sex development (Disorders of gonadal development), including: Gonadal agenesis; Complete and partial gonadal dysgenesis; Testis regression; Ovotesticular DSD
|
|
|
BCL6 |
BCL6 transcription repressor |
- Interleukin-4 and Interleukin-13 signaling
- TP53 regulates transcription of several additional cell death genes whose specific roles in p53-dependent apoptosis remain uncertain
- FOXO-mediated transcription of cell death genes
|
|
|
|
|
BCR |
BCR activator of RhoGEF and GTPase |
- Signaling by cytosolic FGFR1 fusion mutants
- Rho GTPase cycle
- Signaling by FGFR1 in disease
|
- Imatinib
- Dasatinib
- Bosutinib
- Ponatinib
|
- Chronic myeloid leukemia (CML)
- Acute lymphoblastic leukemia (ALL) (precursor B lymphoblastic leukemia)
|
|
|
CABLES1 |
Cdk5 and Abl enzyme substrate 1 |
- Cyclin E associated events during G1/S transition
- Cyclin A:Cdk2-associated events at S phase entry
- Factors involved in megakaryocyte development and platelet production
|
|
|
|
|
CD40LG |
CD40 ligand |
- Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
- TNFR2 non-canonical NF-kB pathway
- TNF receptor superfamily (TNFSF) members mediating non-canonical NF-kB pathway
|
|
- 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
|
|
|
CETP |
cholesteryl ester transfer protein |
- LDL remodeling
- HDL remodeling
- NR1H3 & NR1H2 regulate gene expression linked to cholesterol transport and efflux
|
|
|
|
|
DHFR |
dihydrofolate reductase |
- Tetrahydrobiopterin (BH4) synthesis, recycling, salvage and regulation
- Metabolism of folate and pterines
- G1/S-Specific Transcription
|
- NADH
- Pyrimethamine
- Methotrexate
- Pemetrexed
- Gentamicin
- Proguanil
- Trimetrexate
- 2,4-Diamino-5-Methyl-6-[(3,4,5-Trimethoxy-N-Methylanilino)Methyl]Pyrido[2,3-D]Pyrimidine
- 2,4-Diamino-6-[N-(2',5'-Dimethoxybenzyl)-N-Methylamino]Quinazoline
- 6-(Octahydro-1h-Indol-1-Ylmethyl)Decahydroquinazoline-2,4-Diamine
- N6-(2,5-Dimethoxy-Benzyl)-N6-Methyl-Pyrido[2,3-D]Pyrimidine-2,4,6-Triamine
- 2,4-Diamino-6-[N-(3',4',5'-Trimethoxybenzyl)-N-Methylamino]Pyrido[2,3-D]Pyrimidine
- Sri-9662
- 2,4-Diamino-5-(3,4,5-Trimethoxy-Benzyl)-Pyrimidin-1-Ium
- Sri-9439
- Nicotinamide adenine dinucleotide phosphate
- Piritrexim
- Biopterin
- 2,4-Diamino-6-[N-(3',5'-Dimethoxybenzyl)-N-Methylamino]Pyrido[2,3-D]Pyrimidine
- Iclaprim
- Pralatrexate
- 5-[(3R)-3-(5-methoxybiphenyl-3-yl)but-1-yn-1-yl]-6-methylpyrimidine-2,4-diamine
- 5-[(3R)-3-(5-methoxy-4'-methylbiphenyl-3-yl)but-1-yn-1-yl]-6-methylpyrimidine-2,4-diamine
- 5-[(3R)-3-(5-methoxy-3',5'-dimethylbiphenyl-3-yl)but-1-yn-1-yl]-6-methylpyrimidine-2,4-diamine
- 5-[(3R)-3-(5-methoxy-2',6'-dimethylbiphenyl-3-yl)but-1-yn-1-yl]-6-methylpyrimidine-2,4-diamine
- 5-[3-(2,5-dimethoxyphenyl)prop-1-yn-1-yl]-6-ethylpyrimidine-2,4-diamine
- [N-(2,4-DIAMINOPTERIDIN-6-YL)-METHYL]-DIBENZ[B,F]AZEPINE
- (4aS)-5-[(2,4-diaminopteridin-6-yl)methyl]-4a,5-dihydro-2H-dibenzo[b,f]azepin-8-ol
- (2R,6S)-6-{[methyl(3,4,5-trimethoxyphenyl)amino]methyl}-1,2,5,6,7,8-hexahydroquinazoline-2,4-diamine
|
|
|
|
EAF2 |
ELL associated factor 2 |
- Formation of RNA Pol II elongation complex
- RNA Polymerase II Pre-transcription Events
- RNA Polymerase II Transcription Elongation
|
|
|
|
|
FBXW7 |
F-box and WD repeat domain containing 7 |
- Association of TriC/CCT with target proteins during biosynthesis
- Neddylation
- Antigen processing: Ubiquitination & Proteasome degradation
|
|
|
|
|
FXYD6 |
FXYD domain containing ion transport regulator 6 |
- Ion homeostasis
- Ion transport by P-type ATPases
- Potential therapeutics for SARS
|
|
|
|
|
GYS2 |
glycogen synthase 2 |
- Glycogen synthesis
- Glycogen storage disease type 0 (liver GYS2)
- Glycogen storage disease type IV (GBE1)
|
|
- Glycogen storage diseases (GSD), including: von Gierke disease (GSD type Ia); Pompe disease (GSD type II); Cori disease, Forbe disease (GSD type III); Andersen disease (GSD type IV); McArdle disease (GSD type V); Hers disease (GSD type VI); Tarui disease (GSD type VII); Phosphorylase kinase deficiency (GSD type IX); Fanconi-Bickel syndrome (GSD type XI); Glycogen synthase deficiency (GSD type 0)
|