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HIPK2 |
homeodomain interacting protein kinase 2 |
- YAP1- and WWTR1 (TAZ)-stimulated gene expression
- SUMOylation of transcription cofactors
- Physiological factors
- Regulation of TP53 Activity through Phosphorylation
- RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known
- Regulation of MECP2 expression and activity
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HNF4A |
hepatocyte nuclear factor 4 alpha |
- Nuclear Receptor transcription pathway
- Nephron development
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- Lauric acid
- AVI-4557
- Myristic acid
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- Maturity onset diabetes of the young (MODY)
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HOXA13 |
homeobox A13 |
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- Hand-foot-genital syndrome
- Guttmacher syndrome
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HOXA9 |
homeobox A9 |
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HOXD13 |
homeobox D13 |
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- Synpolydactyly
- Syndactyly
- Brachydactyly, including: type A; type B; type D; type E
- Brachydactyly-syndactyly syndrome
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HSD17B3 |
hydroxysteroid 17-beta dehydrogenase 3 |
- Androgen biosynthesis
- Synthesis of very long-chain fatty acyl-CoAs
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- 46,XY disorders of sex development (Disorders in androgen synthesis or action), including: Congenital adrenal hyperplasias; Leydig cell hypoplasia; Androgen insensitivity syndrome (AIS)
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HUWE1 |
HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 |
- Neutrophil degranulation
- Antigen processing: Ubiquitination & Proteasome degradation
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- Syndromic X-linked mental retardation, including: Turner type (MRXST); Siderius type (MRXSSD) ; Cabezas type (MRXC); Raymond type (MRXSR); Type10 (MRXS10); Type14 (MRXS14); Mental retardation with isolated growth hormone deficiency (MRGH)
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HYAL2 |
hyaluronidase 2 |
- Hyaluronan metabolism
- Hyaluronan degradation
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INSR |
insulin receptor |
- PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
- IRS activation
- Signal attenuation
- Insulin receptor signalling cascade
- Signaling by Insulin receptor
- Insulin receptor recycling
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- Insulin human
- Insulin lispro
- Insulin glargine
- Insulin pork
- Mecasermin
- Insulin aspart
- Insulin detemir
- Insulin glulisine
- Adenosine-5'-[Beta, Gamma-Methylene]Triphosphate
- NN344
- AT1391
- Linsitinib
- [4-({5-(AMINOCARBONYL)-4-[(3-METHYLPHENYL)AMINO]PYRIMIDIN-2-YL}AMINO)PHENYL]ACETIC ACID
- Chromic chloride
- Insulin beef
- Insulin degludec
- Insulin argine
- Insulin peglispro
- Insulin tregopil
- Fostamatinib
- Brigatinib
- Mecasermin rinfabate
- BMS-754807
- KW-2450 free base
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- Leprechaunism ; Donohue syndrome
- Rabson-Mendenhall syndrome
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IRAK2 |
interleukin 1 receptor associated kinase 2 |
- MyD88:MAL(TIRAP) cascade initiated on plasma membrane
- NOD1/2 Signaling Pathway
- TAK1-dependent IKK and NF-kappa-B activation
- activated TAK1 mediates p38 MAPK activation
- JNK (c-Jun kinases) phosphorylation and activation mediated by activated human TAK1
- Interleukin-1 signaling
- IRAK2 mediated activation of TAK1 complex
- TRAF6-mediated induction of TAK1 complex within TLR4 complex
- SARS-CoV-1 activates/modulates innate immune responses
- SARS-CoV-2 activates/modulates innate and adaptive immune responses
- TRAF6 mediated induction of NFkB and MAP kinases upon TLR7/8 or 9 activation
- MyD88 dependent cascade initiated on endosome
- IRAK2 mediated activation of TAK1 complex upon TLR7/8 or 9 stimulation
- MyD88 cascade initiated on plasma membrane
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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
- Regulation of necroptotic cell death
- RUNX1 regulates transcription of genes involved in differentiation of HSCs
- Negative regulators of DDX58/IFIH1 signaling
- SARS-CoV-1 activates/modulates innate immune responses
- Antigen processing: Ubiquitination & Proteasome degradation
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JUN |
Jun proto-oncogene, AP-1 transcription factor subunit |
- Pre-NOTCH Transcription and Translation
- Oxidative Stress Induced Senescence
- Senescence-Associated Secretory Phenotype (SASP)
- FCERI mediated MAPK activation
- Activation of the AP-1 family of transcription factors
- Activation of anterior HOX genes in hindbrain development during early embryogenesis
- MAPK6/MAPK4 signaling
- TP53 Regulates Transcription of DNA Repair Genes
- Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models
- Regulation of PTEN gene transcription
- Regulation of PTEN gene transcription
- Estrogen-dependent gene expression
- WNT5:FZD7-mediated leishmania damping
- Signaling by ALK fusions and activated point mutants
- Regulation of PD-L1(CD274) transcription
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- Adapalene
- Vinblastine
- Pseudoephedrine
- Irbesartan
- Arsenic trioxide
- LGD-1550
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KAT2B |
lysine acetyltransferase 2B |
- Pre-NOTCH Transcription and Translation
- Pre-NOTCH Transcription and Translation
- YAP1- and WWTR1 (TAZ)-stimulated gene expression
- Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells
- NOTCH1 Intracellular Domain Regulates Transcription
- NOTCH1 Intracellular Domain Regulates Transcription
- Constitutive Signaling by NOTCH1 PEST Domain Mutants
- Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
- HATs acetylate histones
- Notch-HLH transcription pathway
- B-WICH complex positively regulates rRNA expression
- Physiological factors
- Metalloprotease DUBs
- RNA Polymerase I Transcription Initiation
- RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function
- RUNX3 regulates NOTCH signaling
- RUNX3 regulates NOTCH signaling
- NOTCH3 Intracellular Domain Regulates Transcription
- NOTCH3 Intracellular Domain Regulates Transcription
- NOTCH4 Intracellular Domain Regulates Transcription
- Estrogen-dependent gene expression
- Regulation of FOXO transcriptional activity by acetylation
- Formation of WDR5-containing histone-modifying complexes
- Formation of paraxial mesoderm
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- Coenzyme A
- (3E)-4-(1-METHYL-1H-INDOL-3-YL)BUT-3-EN-2-ONE
- N-(3-AMINOPROPYL)-2-NITROBENZENAMINE
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KHDRBS1 |
KH RNA binding domain containing, signal transduction associated 1 |
- PTK6 Regulates Proteins Involved in RNA Processing
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KPNB1 |
karyopherin subunit beta 1 |
- ISG15 antiviral mechanism
- Apoptosis induced DNA fragmentation
- Regulation of cholesterol biosynthesis by SREBP (SREBF)
- Transport of Ribonucleoproteins into the Host Nucleus
- NS1 Mediated Effects on Host Pathways
- Nuclear import of Rev protein
- Nuclear import of Rev protein
- Initiation of Nuclear Envelope (NE) Reformation
- Neutrophil degranulation
- Assembly of the ORC complex at the origin of replication
- Interferon alpha/beta signaling
- Postmitotic nuclear pore complex (NPC) reformation
- Inhibition of nitric oxide production
- SARS-CoV-1 activates/modulates innate immune responses
- Maturation of hRSV A proteins
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LAMA5 |
laminin subunit alpha 5 |
- Degradation of the extracellular matrix
- Laminin interactions
- Laminin interactions
- Non-integrin membrane-ECM interactions
- ECM proteoglycans
- Interleukin-4 and Interleukin-13 signaling
- MET activates PTK2 signaling
- Attachment of bacteria to epithelial cells
- Formation of the dystrophin-glycoprotein complex (DGC)
- Formation of the dystrophin-glycoprotein complex (DGC)
- Developmental Lineage of Pancreatic Ductal Cells
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LATS2 |
large tumor suppressor kinase 2 |
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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
- Co-stimulation by CD28
- CD28 dependent PI3K/Akt signaling
- CD28 dependent Vav1 pathway
- Co-inhibition by CTLA4
- Co-inhibition by PD-1
- PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
- RHOH GTPase cycle
- 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
- Zotiraciclib
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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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LEF1 |
lymphoid enhancer binding factor 1 |
- Formation of the beta-catenin:TCF transactivating complex
- Formation of the beta-catenin:TCF transactivating complex
- Deactivation of the beta-catenin transactivating complex
- Ca2+ pathway
- Binding of TCF/LEF:CTNNB1 to target gene promoters
- Repression of WNT target genes
- Repression of WNT target genes
- Transcriptional Regulation by VENTX
- RUNX3 regulates WNT signaling
- Transcriptional regulation of granulopoiesis
- Transcriptional regulation of granulopoiesis
- Cardiogenesis
- Germ layer formation at gastrulation
- Formation of paraxial mesoderm
- Formation of axial mesoderm
- Somitogenesis
- Regulation of MITF-M-dependent genes involved in pigmentation
- Regulation of MITF-M-dependent genes involved in cell cycle and proliferation
- Transcriptional and post-translational regulation of MITF-M expression and activity
- Regulation of PD-L1(CD274) transcription
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LEMD3 |
LEM domain containing 3 |
- Nuclear Envelope Breakdown
- Initiation of Nuclear Envelope (NE) Reformation
- Depolymerization of the Nuclear Lamina
- RAC1 GTPase cycle
- RAC2 GTPase cycle
- RHOD GTPase cycle
- RHOG GTPase cycle
- RAC3 GTPase cycle
- RND3 GTPase cycle
- RND2 GTPase cycle
- RND1 GTPase cycle
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- Disorders caused by loss-of-function of LEMD3, including: Osteopoikilosis; Buschke-Ollendorff syndrome (BOS); Melorheostosis
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