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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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EGFR |
epidermal growth factor receptor |
- Signaling by ERBB2
- Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants
- Signaling by ERBB4
- SHC1 events in ERBB2 signaling
- SHC1 events in ERBB2 signaling
- PLCG1 events in ERBB2 signaling
- PIP3 activates AKT signaling
- Signaling by EGFR
- GRB2 events in EGFR signaling
- GAB1 signalosome
- SHC1 events in EGFR signaling
- EGFR downregulation
- GRB2 events in ERBB2 signaling
- PI3K events in ERBB2 signaling
- EGFR interacts with phospholipase C-gamma
- EGFR Transactivation by Gastrin
- Constitutive Signaling by Aberrant PI3K in Cancer
- Signal transduction by L1
- Constitutive Signaling by EGFRvIII
- Inhibition of Signaling by Overexpressed EGFR
- RAF/MAP kinase cascade
- ERBB2 Regulates Cell Motility
- PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
- ERBB2 Activates PTK6 Signaling
- Cargo recognition for clathrin-mediated endocytosis
- Clathrin-mediated endocytosis
- PTK6 promotes HIF1A stabilization
- Downregulation of ERBB2 signaling
- TFAP2 (AP-2) family regulates transcription of growth factors and their receptors
- Extra-nuclear estrogen signaling
- NOTCH3 Activation and Transmission of Signal to the Nucleus
- HCMV Early Events
- Estrogen-dependent nuclear events downstream of ESR-membrane signaling
- Signaling by ERBB2 KD Mutants
- Signaling by ERBB2 ECD mutants
- Signaling by ERBB2 TMD/JMD mutants
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- Cetuximab
- Lidocaine
- Gefitinib
- Erlotinib
- Lapatinib
- Panitumumab
- Alvocidib
- IGN311
- Matuzumab
- Vandetanib
- Rindopepimut
- Canertinib
- Pelitinib
- Varlitinib
- AV-412
- S-{3-[(4-ANILINOQUINAZOLIN-6-YL)AMINO]-3-OXOPROPYL}-L-CYSTEINE
- PD-168393
- Afatinib
- Osimertinib
- Necitumumab
- Foreskin keratinocyte (neonatal)
- Depatuxizumab mafodotin
- Icotinib
- Neratinib
- Dacomitinib
- Fostamatinib
- Zalutumumab
- Brigatinib
- Olmutinib
- Zanubrutinib
- Abivertinib
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- Choriocarcinoma
- Gastric cancer
- Bladder cancer
- Oral cancer
- Glioma
- Laryngeal cancer
- Cervical cancer
- Esophageal cancer
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EP300 |
E1A binding protein p300 |
- Regulation of gene expression by Hypoxia-inducible Factor
- RORA activates gene expression
- Polo-like kinase mediated events
- Pre-NOTCH Transcription and Translation
- Pre-NOTCH Transcription and Translation
- PPARA activates gene expression
- PPARA activates gene expression
- Formation of the beta-catenin:TCF transactivating complex
- Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells
- NOTCH1 Intracellular Domain Regulates Transcription
- NOTCH1 Intracellular Domain Regulates Transcription
- NOTCH2 intracellular domain regulates transcription
- Constitutive Signaling by NOTCH1 PEST Domain Mutants
- Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
- LRR FLII-interacting protein 1 (LRRFIP1) activates type I IFN production
- HATs acetylate histones
- Attenuation phase
- Transcriptional regulation of white adipocyte differentiation
- Transcriptional regulation of white adipocyte differentiation
- SUMOylation of transcription cofactors
- Circadian Clock
- B-WICH complex positively regulates rRNA expression
- Activation of anterior HOX genes in hindbrain development during early embryogenesis
- CD209 (DC-SIGN) signaling
- Metalloprotease DUBs
- Formation of TC-NER Pre-Incision Complex
- Transcription-Coupled Nucleotide Excision Repair (TC-NER)
- Dual incision in TC-NER
- Gap-filling DNA repair synthesis and ligation in TC-NER
- TP53 Regulates Transcription of Genes Involved in G2 Cell Cycle Arrest
- Regulation of TP53 Activity through Acetylation
- Regulation of TP53 Activity through Methylation
- PI5P Regulates TP53 Acetylation
- Activation of the TFAP2 (AP-2) family of transcription factors
- RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function
- RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known
- RUNX3 regulates NOTCH signaling
- RUNX3 regulates NOTCH signaling
- Regulation of RUNX3 expression and activity
- RUNX3 regulates p14-ARF
- NOTCH3 Intracellular Domain Regulates Transcription
- NOTCH3 Intracellular Domain Regulates Transcription
- NOTCH4 Intracellular Domain Regulates Transcription
- Estrogen-dependent gene expression
- NR1H3 & NR1H2 regulate gene expression linked to cholesterol transport and efflux
- NGF-stimulated transcription
- NGF-stimulated transcription
- TRAF3-dependent IRF activation pathway
- TRAF6 mediated IRF7 activation
- FOXO-mediated transcription of cell death genes
- Transcriptional regulation of granulopoiesis
- Transcriptional regulation of granulopoiesis
- Regulation of FOXO transcriptional activity by acetylation
- Regulation of FOXO transcriptional activity by acetylation
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- Rubinstein-Taybi syndrome
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ESR1 |
estrogen receptor 1 |
- Nuclear signaling by ERBB4
- PIP3 activates AKT signaling
- Constitutive Signaling by Aberrant PI3K in Cancer
- Nuclear Receptor transcription pathway
- SUMOylation of intracellular receptors
- Ovarian tumor domain proteases
- PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
- TFAP2 (AP-2) family regulates transcription of growth factors and their receptors
- RUNX1 regulates estrogen receptor mediated transcription
- ESR-mediated signaling
- RUNX1 regulates transcription of genes involved in WNT signaling
- Regulation of RUNX2 expression and activity
- Regulation of RUNX2 expression and activity
- Extra-nuclear estrogen signaling
- Estrogen-dependent gene expression
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- Diethylstilbestrol
- Chlorotrianisene
- Conjugated estrogens
- Desogestrel
- Levonorgestrel
- Progesterone
- Lindane
- Raloxifene
- Toremifene
- Medroxyprogesterone acetate
- Testosterone
- Mitotane
- Estrone
- Tamoxifen
- Hexachlorophene
- Estradiol
- Ethynodiol diacetate
- Dobutamine
- Clomifene
- Dienestrol
- Fulvestrant
- Norgestimate
- Ethinylestradiol
- Melatonin
- Trilostane
- Naloxone
- Fluoxymesterone
- Estramustine
- Mestranol
- Danazol
- Oxybenzone
- Allylestrenol
- Zinc
- Genistein
- Prasterone
- Benzophenone
- Equilin
- Compound 19
- Resveratrol
- Compound 18
- Phthalic Acid
- Pyrazole
- Stanolone
- Naringenin
- Compound 4-D
- 1-[4-(Octahydro-Pyrido[1,2-a]Pyrazin-2-Yl)-Phenyl]-2-Phenyl-1,2,3,4-Tetrahydro-Isoquinolin-6-Ol
- Quercetin
- Afimoxifene
- 2-Phenyl-1-[4-(2-Piperidin-1-Yl-Ethoxy)-Phenyl]-1,2,3,4-Tetrahydro-Isoquinolin-6-Ol
- Estriol
- Estrone sulfate
- Quinestrol
- Phenolphthalein
- Permethrin
- Ospemifene
- AP1081
- Custirsen
- NP-50301
- CHF 4227
- TAS-108
- Lasofoxifene
- Arzoxifene
- Elacestrant
- Bazedoxifene
- Methyltestosterone
- beta-Naphthoflavone
- 17-METHYL-17-ALPHA-DIHYDROEQUILENIN
- 4-(2-amino-1-methyl-1H-imidazo[4,5-b]pyridin-6-yl)phenol
- [5-HYDROXY-2-(4-HYDROXYPHENYL)-1-BENZOFURAN-7-YL]ACETONITRILE
- 4-[(1S,2S,5S)-5-(HYDROXYMETHYL)-8-METHYL-3-OXABICYCLO[3.3.1]NON-7-EN-2-YL]PHENOL
- 4-[(1S,2S,5S,9R)-5-(HYDROXYMETHYL)-8,9-DIMETHYL-3-OXABICYCLO[3.3.1]NON-7-EN-2-YL]PHENOL
- 4-[(1S,2S,5S)-5-(HYDROXYMETHYL)-6,8,9-TRIMETHYL-3-OXABICYCLO[3.3.1]NON-7-EN-2-YL]PHENOL
- (2R,3R,4S)-3-(4-HYDROXYPHENYL)-4-METHYL-2-[4-(2-PYRROLIDIN-1-YLETHOXY)PHENYL]CHROMAN-6-OL
- (3AS,4R,9BR)-2,2-DIFLUORO-4-(4-HYDROXYPHENYL)-1,2,3,3A,4,9B-HEXAHYDROCYCLOPENTA[C]CHROMEN-8-OL
- (9ALPHA,13BETA,17BETA)-2-[(1Z)-BUT-1-EN-1-YL]ESTRA-1,3,5(10)-TRIENE-3,17-DIOL
- (9BETA,11ALPHA,13ALPHA,14BETA,17ALPHA)-11-(METHOXYMETHYL)ESTRA-1(10),2,4-TRIENE-3,17-DIOL
- 3-CHLORO-2-(4-HYDROXYPHENYL)-2H-INDAZOL-5-OL
- 3-ETHYL-2-(4-HYDROXYPHENYL)-2H-INDAZOL-5-OL
- Hexestrol
- dimethyl (1R,4S)-5,6-bis(4-hydroxyphenyl)-7-oxabicyclo[2.2.1]hepta-2,5-diene-2,3-dicarboxylate
- Erteberel
- N-[(1R)-3-(4-HYDROXYPHENYL)-1-METHYLPROPYL]-2-(2-PHENYL-1H-INDOL-3-YL)ACETAMIDE
- (3AS,4R,9BR)-4-(4-HYDROXYPHENYL)-6-(METHOXYMETHYL)-1,2,3,3A,4,9B-HEXAHYDROCYCLOPENTA[C]CHROMEN-8-OL
- 4-[1-allyl-7-(trifluoromethyl)-1H-indazol-3-yl]benzene-1,3-diol
- 4-(6-HYDROXY-1H-INDAZOL-3-YL)BENZENE-1,3-DIOL
- DIETHYL (1R,2S,3R,4S)-5,6-BIS(4-HYDROXYPHENYL)-7-OXABICYCLO[2.2.1]HEPT-5-ENE-2,3-DICARBOXYLATE
- 2-Amino-1-methyl-6-phenylimidazo(4,5-b)pyridine
- 4-[(1S,2R,5S)-4,4,8-TRIMETHYL-3-OXABICYCLO[3.3.1]NON-7-EN-2-YL]PHENOL
- (3AS,4R,9BR)-4-(4-HYDROXYPHENYL)-1,2,3,3A,4,9B-HEXAHYDROCYCLOPENTA[C]CHROMEN-9-OL
- 2-(4-hydroxyphenyl)benzo[b]thiophen-6-ol
- Tibolone
- Eugenol
- Synthetic Conjugated Estrogens, A
- Synthetic Conjugated Estrogens, B
- Polyestradiol phosphate
- Norethynodrel
- Octocrylene
- Homosalate
- Enzacamene
- Zeranol
- Ractopamine
- Gestrinone
- Propyl Gallate
- 2-Methoxy-6-{(E)-[(4-methylphenyl)imino]methyl}phenol
- Testosterone cypionate
- Testosterone enanthate
- Testosterone undecanoate
- Stanolone acetate
- Estradiol acetate
- Estradiol benzoate
- Estradiol cypionate
- Estradiol dienanthate
- Estradiol valerate
- Zinc acetate
- Zinc chloride
- Zinc sulfate, unspecified form
- Estriol tripropionate
- Fluoroestradiol F-18
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EXOC8 |
exocyst complex component 8 |
- Translocation of SLC2A4 (GLUT4) to the plasma membrane
- Insulin processing
- VxPx cargo-targeting to cilium
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FRAT1 |
FRAT regulator of WNT signaling pathway 1 |
- Beta-catenin phosphorylation cascade
- Disassembly of the destruction complex and recruitment of AXIN to the membrane
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GIT2 |
GIT ArfGAP 2 |
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GOLGA2 |
golgin A2 |
- Golgi Cisternae Pericentriolar Stack Reorganization
- Golgi Cisternae Pericentriolar Stack Reorganization
- COPII-mediated vesicle transport
- COPI-mediated anterograde transport
- Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models
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GRN |
granulin precursor |
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- Frontotemporal lobar degeneration (FTLD), including: Pick disease of brain; Frontotemporal dementia (FTD); Ubiquitin-positive frontotemporal dementia (UP-FTD); Progressive supranuclear palsy type 1 (PSNP1); Inclusion body myopathy with early-onset paget disease and frontotemporal dementia (IBMPFD); Frontotemporal dementia, chromosome 3-linked (FTD3)
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HAUS1 |
HAUS augmin like complex subunit 1 |
- Regulation of PLK1 Activity at G2/M Transition
- Loss of Nlp from mitotic centrosomes
- Recruitment of mitotic centrosome proteins and complexes
- Loss of proteins required for interphase microtubule organization from the centrosome
- Recruitment of NuMA to mitotic centrosomes
- Anchoring of the basal body to the plasma membrane
- AURKA Activation by TPX2
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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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HRAS |
HRas proto-oncogene, GTPase |
- SOS-mediated signalling
- Activation of RAS in B cells
- Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants
- SHC1 events in ERBB2 signaling
- SHC1 events in ERBB4 signaling
- Signaling by SCF-KIT
- Signalling to RAS
- p38MAPK events
- p38MAPK events
- GRB2 events in EGFR signaling
- SHC1 events in EGFR signaling
- Downstream signal transduction
- GRB2 events in ERBB2 signaling
- GRB2 events in ERBB2 signaling
- Tie2 Signaling
- EGFR Transactivation by Gastrin
- DAP12 signaling
- SHC-related events triggered by IGF1R
- FCERI mediated MAPK activation
- NCAM signaling for neurite out-growth
- EPHB-mediated forward signaling
- Ras activation upon Ca2+ influx through NMDA receptor
- VEGFR2 mediated cell proliferation
- CD209 (DC-SIGN) signaling
- Constitutive Signaling by EGFRvIII
- SHC-mediated cascade:FGFR1
- FRS-mediated FGFR1 signaling
- SHC-mediated cascade:FGFR2
- FRS-mediated FGFR2 signaling
- SHC-mediated cascade:FGFR3
- FRS-mediated FGFR3 signaling
- FRS-mediated FGFR4 signaling
- SHC-mediated cascade:FGFR4
- Signaling by FGFR2 in disease
- Signaling by FGFR4 in disease
- Signaling by FGFR1 in disease
- Regulation of RAS by GAPs
- RAF activation
- RAF/MAP kinase cascade
- MAP2K and MAPK activation
- Negative regulation of MAPK pathway
- Signaling by moderate kinase activity BRAF mutants
- Signaling by high-kinase activity BRAF mutants
- Signaling by BRAF and RAF fusions
- RAS signaling downstream of NF1 loss-of-function variants
- Paradoxical activation of RAF signaling by kinase inactive BRAF
- Insulin receptor signalling cascade
- PTK6 Regulates RHO GTPases, RAS GTPase and MAP kinases
- MET activates RAS signaling
- Signaling by FGFR3 fusions in cancer
- Signaling by FGFR3 point mutants in cancer
- Activated NTRK2 signals through RAS
- Erythropoietin activates RAS
- Activated NTRK2 signals through FRS2 and FRS3
- Activated NTRK3 signals through RAS
- FLT3 Signaling
- Constitutive Signaling by Overexpressed ERBB2
- Estrogen-stimulated signaling through PRKCZ
- RAS processing
- RAS GTPase cycle mutants
- Signaling downstream of RAS mutants
- Signaling by RAF1 mutants
- Signaling by ERBB2 KD Mutants
- Signaling by ERBB2 ECD mutants
- Signaling by ERBB2 TMD/JMD mutants
- Signaling by phosphorylated juxtamembrane, extracellular and kinase domain KIT mutants
- Signaling by PDGFRA transmembrane, juxtamembrane and kinase domain mutants
- Signaling by PDGFRA extracellular domain mutants
- Signaling by FLT3 fusion proteins
- Signaling by FLT3 ITD and TKD mutants
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- Hexane-1,6-Diol
- Trifluoroethanol
- Guanosine-5'-Triphosphate
- Guanosine-5'-Diphosphate
- N,N'-DIMETHYL-N-(ACETYL)-N'-(7-NITROBENZ-2-OXA-1,3-DIAZOL-4-YL)ETHYLENEDIAMINE
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- Bladder cancer
- Penile cancer
- Squamous cell carcinoma
- Thyroid cancer
- Cervical cancer
- Hepatocellular carcinoma
- Noonan syndrome and related disorders, including: Noonan syndrome (NS); Leopard syndrome (LS); Noonan syndrome-like with loose anagen hair (NS/LAH); CBL-mutation associated syndrome (CBL); Neurofibromatosis type 1 (NF1); Neurofibromatosis type 2 (NF2); Neurofibromatosis-Noonan syndrome (NFNS); Legius syndrome; Cardiofaciocutaneous syndrome (CFCS); Costello syndrome (CS)
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HSPA1A |
heat shock protein family A (Hsp70) member 1A |
- Viral RNP Complexes in the Host Cell Nucleus
- Regulation of HSF1-mediated heat shock response
- HSP90 chaperone cycle for steroid hormone receptors (SHR)
- Attenuation phase
- HSF1-dependent transactivation
- AUF1 (hnRNP D0) binds and destabilizes mRNA
- Neutrophil degranulation
- Regulation of HSF1-mediated heat shock response
- HSP90 chaperone cycle for steroid hormone receptors (SHR)
- Attenuation phase
- HSF1-dependent transactivation
- Neutrophil degranulation
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HSPA4 |
heat shock protein family A (Hsp70) member 4 |
- Regulation of HSF1-mediated heat shock response
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HSPA5 |
heat shock protein family A (Hsp70) member 5 |
- Platelet degranulation
- Regulation of HSF1-mediated heat shock response
- ATF6 (ATF6-alpha) activates chaperones
- PERK regulates gene expression
- IRE1alpha activates chaperones
- ATF6 (ATF6-alpha) activates chaperone genes
- Antigen Presentation: Folding, assembly and peptide loading of class I MHC
- Antigen Presentation: Folding, assembly and peptide loading of class I MHC
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- Antihemophilic factor, human recombinant
- Acetylsalicylic acid
- Copper
- Lonoctocog alfa
- Moroctocog alfa
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HSPB1 |
heat shock protein family B (small) member 1 |
- VEGFA-VEGFR2 Pathway
- AUF1 (hnRNP D0) binds and destabilizes mRNA
- MAPK6/MAPK4 signaling
- Extra-nuclear estrogen signaling
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- Apatorsen
- Artenimol
- Phenethyl Isothiocyanate
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- Distal hereditary motor neuropathies (dHMN)
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IKBKG |
inhibitor of nuclear factor kappa B kinase regulatory subunit gamma |
- Activation of NF-kappaB in B cells
- Activation of NF-kappaB in B cells
- ER-Phagosome pathway
- NOD1/2 Signaling Pathway
- TICAM1, RIP1-mediated IKK complex recruitment
- RIP-mediated NFkB activation via ZBP1
- Downstream TCR signaling
- FCERI mediated NF-kB activation
- TAK1 activates NFkB by phosphorylation and activation of IKKs complex
- activated TAK1 mediates p38 MAPK activation
- JNK (c-Jun kinases) phosphorylation and activation mediated by activated human TAK1
- SUMOylation of immune response proteins
- Regulation of TNFR1 signaling
- TNFR1-induced NFkappaB signaling pathway
- IKBKB deficiency causes SCID
- IKBKG deficiency causes anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID) (via TLR)
- IkBA variant leads to EDA-ID
- CLEC7A (Dectin-1) signaling
- MAP3K8 (TPL2)-dependent MAPK1/3 activation
- Ub-specific processing proteases
- Ovarian tumor domain proteases
- Interleukin-1 signaling
- TRAF6 mediated NF-kB activation
- NF-kB activation through FADD/RIP-1 pathway mediated by caspase-8 and -10
- IRAK1 recruits IKK complex
- IKK complex recruitment mediated by RIP1
- IRAK1 recruits IKK complex upon TLR7/8 or 9 stimulation
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- Ectodermal dysplasia associated immunodeficiency (EDA-ID), including the following two diseases: NF-kappa-B essential modulator (NEMO) defect; Inhibitor of kappa-B (I-kappa-B) defect
- Incontinentia pigmenti
- Osteoporosis, lymphedema, anhydrotic ectodermal dysplasia with immunodeficiency (OLEDAID); Ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema
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KIFC3 |
kinesin family member C3 |
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KPNA2 |
karyopherin subunit alpha 2 |
- CaMK IV-mediated phosphorylation of CREB
- ISG15 antiviral mechanism
- NS1 Mediated Effects on Host Pathways
- CREB1 phosphorylation through the activation of CaMKII/CaMKK/CaMKIV cascasde
- Sensing of DNA Double Strand Breaks
- Estrogen-dependent gene expression
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KRT15 |
keratin 15 |
- Keratinization
- Formation of the cornified envelope
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