Novel |
CTRL |
chymotrypsin like |
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Novel |
PHB |
prohibitin |
- RAF activation
- Signaling by moderate kinase activity BRAF mutants
- Paradoxical activation of RAF signaling by kinase inactive BRAF
- Processing of SMDT1
- Signaling downstream of RAS mutants
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- Rocaglamide
- Didesmethylrocaglamide
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Novel |
RARA |
retinoic acid receptor alpha |
- Nuclear Receptor transcription pathway
- SUMOylation of intracellular receptors
- Signaling by Retinoic Acid
- Activation of anterior HOX genes in hindbrain development during early embryogenesis
- Transcriptional regulation of granulopoiesis
- Transcriptional regulation of granulopoiesis
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- Adapalene
- Acitretin
- Alitretinoin
- Tretinoin
- Tazarotene
- Etretinate
- Isotretinoin
- Tamibarotene
- LGD-1550
- Trifarotene
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- Isolated orofacial clefts, including: Cleft lip with or without cleft palate; Cleft palate
- Acute myeloid leukemia (AML)
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Novel |
RND2 |
Rho family GTPase 2 |
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Novel |
SGCA |
sarcoglycan alpha |
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- Sarcoglycanopathies, including: Limb-girdle muscular dystrophy (LGMD) 2C; Limb-girdle muscular dystrophy (LGMD) 2D; Limb-girdle muscular dystrophy (LGMD) 2E; Limb-girdle muscular dystrophy (LGMD) 2F
- Limb-girdle muscular dystrophy (LGMD)
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Novel |
WNT3 |
Wnt family member 3 |
- TCF dependent signaling in response to WNT
- WNT ligand biogenesis and trafficking
- WNT ligand biogenesis and trafficking
- Class B/2 (Secretin family receptors)
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APP |
amyloid beta precursor protein |
- Platelet degranulation
- ECM proteoglycans
- Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
- G alpha (q) signalling events
- G alpha (i) signalling events
- Lysosome Vesicle Biogenesis
- Formyl peptide receptors bind formyl peptides and many other ligands
- TAK1 activates NFkB by phosphorylation and activation of IKKs complex
- The NLRP3 inflammasome
- Advanced glycosylation endproduct receptor signaling
- Advanced glycosylation endproduct receptor signaling
- Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models
- Post-translational protein phosphorylation
- TRAF6 mediated NF-kB activation
- Insertion of tail-anchored proteins into the endoplasmic reticulum membrane
- Insertion of tail-anchored proteins into the endoplasmic reticulum membrane
- Purinergic signaling in leishmaniasis infection
- Amyloid fiber formation
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- Deferoxamine
- Aluminium
- Zinc
- L-methionine (R)-S-oxide
- Resveratrol
- Tromethamine
- Phenserine
- Tetrathiomolybdate
- CAD106
- Mito-4509
- Edonerpic
- Dimercaprol
- Copper
- Florbetaben (18F)
- Florbetapir (18F)
- Flutemetamol (18F)
- Zinc acetate
- Aluminium phosphate
- Aluminum acetate
- Zinc chloride
- Zinc sulfate, unspecified form
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BRCA1 |
BRCA1 DNA repair associated |
- Meiotic synapsis
- SUMOylation of DNA damage response and repair proteins
- HDR through Single Strand Annealing (SSA)
- HDR through Homologous Recombination (HRR)
- Metalloprotease DUBs
- Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)
- Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
- Resolution of D-loop Structures through Holliday Junction Intermediates
- Nonhomologous End-Joining (NHEJ)
- Homologous DNA Pairing and Strand Exchange
- Processing of DNA double-strand break ends
- Presynaptic phase of homologous DNA pairing and strand exchange
- TP53 Regulates Transcription of DNA Repair Genes
- Regulation of TP53 Activity through Phosphorylation
- G2/M DNA damage checkpoint
- Transcriptional Regulation by E2F6
- Meiotic recombination
- Defective DNA double strand break response due to BRCA1 loss of function
- Defective DNA double strand break response due to BARD1 loss of function
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- Breast cancer
- Ovarian cancer
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CENPJ |
centromere protein J |
- 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
- TP53 regulates transcription of additional cell cycle genes whose exact role in the p53 pathway remain uncertain
- AURKA Activation by TPX2
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- Seckel syndrome
- Primary microcephaly (MCPH)
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CNTN2 |
contactin 2 |
- L1CAM interactions
- NCAM1 interactions
- NrCAM interactions
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CUL4A |
cullin 4A |
- Recognition of DNA damage by PCNA-containing replication complex
- DNA Damage Recognition in GG-NER
- Formation of Incision Complex in GG-NER
- Dual Incision in GG-NER
- 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
- Neddylation
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DDX41 |
DEAD-box helicase 41 |
- STING mediated induction of host immune responses
- Regulation of innate immune responses to cytosolic DNA
- IRF3-mediated induction of type I IFN
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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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KIF14 |
kinesin family member 14 |
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KRT18 |
keratin 18 |
- Keratinization
- Formation of the cornified envelope
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KRT19 |
keratin 19 |
- Keratinization
- Formation of the cornified envelope
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MARK4 |
microtubule affinity regulating kinase 4 |
- Anchoring of the basal body to the plasma membrane
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NAPG |
NSF attachment protein gamma |
- COPII-mediated vesicle transport
- COPI-mediated anterograde transport
- COPI-dependent Golgi-to-ER retrograde traffic
- Intra-Golgi traffic
- Retrograde transport at the Trans-Golgi-Network
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NDE1 |
nudE neurodevelopment protein 1 |
- Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal
- Separation of Sister Chromatids
- Resolution of Sister Chromatid Cohesion
- 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
- RHO GTPases Activate Formins
- Mitotic Prometaphase
- AURKA Activation by TPX2
- EML4 and NUDC in mitotic spindle formation
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PCNT |
pericentrin |
- 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
- Chaperone Mediated Autophagy
- Late endosomal microautophagy
- Aggrephagy
- Aggrephagy
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- Microcephalic osteodysplastic primordial dwarfism, type II (MOPD II)
- Seckel syndrome
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