| Novel |
GDI1
|
GDP dissociation inhibitor 1 |
- RAB GEFs exchange GTP for GDP on RABs
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- Non-syndromic X-linked mental retardation
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| Novel |
IDS
|
iduronate 2-sulfatase |
- HS-GAG degradation
- CS/DS degradation
- MPS II - Hunter syndrome (HS-GAG degradation)
- MPS II - Hunter syndrome (CS/DS degradation)
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- Mucopolysaccharidosis type II (MPS2); Hunter syndrome
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| Novel |
JADE2
|
jade family PHD finger 2 |
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| Novel |
LDHD
|
lactate dehydrogenase D |
- Mitochondrial protein import
- Mitochondrial protein import
- Mitochondrial protein degradation
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| Novel |
MAGEA2
|
MAGE family member A2 |
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| Novel |
NMRK2
|
nicotinamide riboside kinase 2 |
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| Novel |
RAB31
|
RAB31, member RAS oncogene family |
- Neutrophil degranulation
- RAB geranylgeranylation
- RAB GEFs exchange GTP for GDP on RABs
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| Novel |
RASSF2
|
Ras association domain family member 2 |
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| Novel |
RPF1
|
ribosome production factor 1 homolog |
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| Novel |
UBE2E3
|
ubiquitin conjugating enzyme E2 E3 |
- Synthesis of active ubiquitin: roles of E1 and E2 enzymes
- Antigen processing: Ubiquitination & Proteasome degradation
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AKT1
|
AKT serine/threonine kinase 1 |
- Activation of BAD and translocation to mitochondria
- PIP3 activates AKT signaling
- PIP3 activates AKT signaling
- Downregulation of ERBB2:ERBB3 signaling
- Translocation of SLC2A4 (GLUT4) to the plasma membrane
- Tetrahydrobiopterin (BH4) synthesis, recycling, salvage and regulation
- MTOR signalling
- AKT phosphorylates targets in the cytosol
- AKT phosphorylates targets in the cytosol
- AKT phosphorylates targets in the nucleus
- Negative regulation of the PI3K/AKT network
- eNOS activation
- AKT-mediated inactivation of FOXO1A
- Integrin signaling
- Deactivation of the beta-catenin transactivating complex
- CD28 dependent PI3K/Akt signaling
- Co-inhibition by CTLA4
- G beta:gamma signalling through PI3Kgamma
- Butyrate Response Factor 1 (BRF1) binds and destabilizes mRNA
- KSRP (KHSRP) binds and destabilizes mRNA
- VEGFR2 mediated vascular permeability
- TP53 Regulates Metabolic Genes
- Constitutive Signaling by AKT1 E17K in Cancer
- Interleukin-4 and Interleukin-13 signaling
- Regulation of TP53 Degradation
- Regulation of TP53 Activity through Acetylation
- Regulation of TP53 Activity through Association with Co-factors
- PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
- Cyclin E associated events during G1/S transition
- Cyclin A:Cdk2-associated events at S phase entry
- PTK6 Regulates RTKs and Their Effectors AKT1 and DOK1
- RAB GEFs exchange GTP for GDP on RABs
- RUNX2 regulates genes involved in cell migration
- Regulation of PTEN stability and activity
- Extra-nuclear estrogen signaling
- Negative regulation of NOTCH4 signaling
- FLT3 Signaling
- Regulation of localization of FOXO transcription factors
- Estrogen-dependent nuclear events downstream of ESR-membrane signaling
- KEAP1-NFE2L2 pathway
- SARS-CoV-2 targets host intracellular signalling and regulatory pathways
- Mitochondrial unfolded protein response (UPRmt)
- High laminar flow shear stress activates signaling by PIEZO1 and PECAM1:CDH5:KDR in endothelial cells
- High laminar flow shear stress activates signaling by PIEZO1 and PECAM1:CDH5:KDR in endothelial cells
- Mechanical load activates signaling by PIEZO1 and integrins in osteocytes
|
- ATP
- Arsenic trioxide
- Genistein
- Inositol 1,3,4,5-Tetrakisphosphate
- Resveratrol
- Archexin
- Enzastaurin
- Perifosine
- N-[2-(5-methyl-4H-1,2,4-triazol-3-yl)phenyl]-7H-pyrrolo[2,3-d]pyrimidin-4-amine
- 5-(5-chloro-7H-pyrrolo[2,3-d]pyrimidin-4-yl)-4,5,6,7-tetrahydro-1H-imidazo[4,5-c]pyridine
|
- PTEN hamartoma tumor syndrome (PHTS), including: Cowden syndrome; Bannayan-Riley-Ruvalcaba syndrome; Proteus syndrome; Proteus-like syndrome
|
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BCL10
|
BCL10 immune signaling adaptor |
- Activation of NF-kappaB in B cells
- Activation of NF-kappaB in B cells
- Downstream TCR signaling
- FCERI mediated NF-kB activation
- FCERI mediated NF-kB activation
- CLEC7A (Dectin-1) signaling
- E3 ubiquitin ligases ubiquitinate target proteins
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BTK
|
Bruton tyrosine kinase |
- ER-Phagosome pathway
- MyD88:MAL(TIRAP) cascade initiated on plasma membrane
- Regulation of actin dynamics for phagocytic cup formation
- DAP12 signaling
- FCERI mediated Ca+2 mobilization
- FCERI mediated Ca+2 mobilization
- G alpha (q) signalling events
- G alpha (12/13) signalling events
- MyD88 deficiency (TLR2/4)
- IRAK4 deficiency (TLR2/4)
- RHO GTPases Activate WASPs and WAVEs
- G beta:gamma signalling through BTK
- FCGR3A-mediated phagocytosis
- Potential therapeutics for SARS
- Antigen activates B Cell Receptor (BCR) leading to generation of second messengers
- Antigen activates B Cell Receptor (BCR) leading to generation of second messengers
|
- Dasatinib
- Inositol 1,3,4,5-Tetrakisphosphate
- XL418
- Ibrutinib
- Acalabrutinib
- Spebrutinib
- Fostamatinib
- Fenebrutinib
- Zanubrutinib
- Evobrutinib
- Tirabrutinib
- Abivertinib
- Branebrutinib
- Vecabrutinib
|
- Pituitary Dwarfism (PD); Isolated growth hormone deficiency (IGHD); Short Stature and Pituitary Defects (SSPD); Insulin-like growth factor 1 deficiency (IGFD)
- Agammaglobulinemias, including the following six diseases: X-linked agammaglobulinemia (Bruton's agammaglobulinemia, XLA); IgM heavy chain gene deletions; Ig-alpha defect; Autosomal recessive agammaglobulinaemia; B cell-linker protein (BLNK) deficiency; Leucine-rich repeat-containing 8
|
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CCDC47
|
coiled-coil domain containing 47 |
|
|
|
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FADD
|
Fas associated via death domain |
- Caspase activation via Death Receptors in the presence of ligand
- TRIF-mediated programmed cell death
- Regulation by c-FLIP
- RIPK1-mediated regulated necrosis
- CASP8 activity is inhibited
- TNFR1-induced proapoptotic signaling
- Regulation of TNFR1 signaling
- Regulation of necroptotic cell death
- Dimerization of procaspase-8
- FasL/ CD95L signaling
- TRAIL signaling
- TLR3-mediated TICAM1-dependent programmed cell death
- NF-kB activation through FADD/RIP-1 pathway mediated by caspase-8 and -10
- Defective RIPK1-mediated regulated necrosis
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|
|
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H3-4
|
H3.4 histone, cluster member |
- Recognition and association of DNA glycosylase with site containing an affected pyrimidine
- Cleavage of the damaged pyrimidine
- Recognition and association of DNA glycosylase with site containing an affected purine
- Recognition and association of DNA glycosylase with site containing an affected purine
- Cleavage of the damaged purine
- Cleavage of the damaged purine
- Meiotic synapsis
- Packaging Of Telomere Ends
- Formation of the beta-catenin:TCF transactivating complex
- Formation of the beta-catenin:TCF transactivating complex
- Condensation of Prophase Chromosomes
- DNA Damage/Telomere Stress Induced Senescence
- Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
- Nonhomologous End-Joining (NHEJ)
- Processing of DNA double-strand break ends
- G2/M DNA damage checkpoint
- Meiotic recombination
- Inhibition of DNA recombination at telomere
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|
|
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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
- Signaling by FGFR3 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 RAF1 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
- 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
- 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
- Signaling by RAS GAP mutants
- Signaling by RAS GTPase mutants
|
- 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
- Ursolic acid
|
- Penile cancer
- Cervical cancer
- 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)
- Hepatocellular carcinoma
- Thyroid cancer
- Squamous cell carcinoma
- Bladder cancer
|
|
HSP90AA1
|
heat shock protein 90 alpha family class A member 1 |
- Signaling by ERBB2
- Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants
- Tetrahydrobiopterin (BH4) synthesis, recycling, salvage and regulation
- DDX58/IFIH1-mediated induction of interferon-alpha/beta
- vRNP Assembly
- Regulation of actin dynamics for phagocytic cup formation
- eNOS activation
- Regulation of PLK1 Activity at G2/M Transition
- Scavenging by Class F Receptors
- Scavenging by Class F Receptors
- HSP90 chaperone cycle for steroid hormone receptors (SHR) in the presence of ligand
- HSF1 activation
- Attenuation phase
- HSF1-dependent transactivation
- 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
- Sema3A PAK dependent Axon repulsion
- VEGFA-VEGFR2 Pathway
- VEGFA-VEGFR2 Pathway
- VEGFR2 mediated vascular permeability
- Uptake and function of diphtheria toxin
- PIWI-interacting RNA (piRNA) biogenesis
- Anchoring of the basal body to the plasma membrane
- Constitutive Signaling by EGFRvIII
- Regulation of necroptotic cell death
- Interleukin-4 and Interleukin-13 signaling
- Neutrophil degranulation
- The role of GTSE1 in G2/M progression after G2 checkpoint
- AURKA Activation by TPX2
- Downregulation of ERBB2 signaling
- ESR-mediated signaling
- Extra-nuclear estrogen signaling
- RHOBTB2 GTPase cycle
- Estrogen-dependent gene expression
- Chaperone Mediated Autophagy
- Constitutive Signaling by Overexpressed ERBB2
- Aggrephagy
- Drug-mediated inhibition of ERBB2 signaling
- Signaling by ERBB2 KD Mutants
- Resistance of ERBB2 KD mutants to trastuzumab
- Resistance of ERBB2 KD mutants to sapitinib
- Resistance of ERBB2 KD mutants to tesevatinib
- Resistance of ERBB2 KD mutants to neratinib
- Resistance of ERBB2 KD mutants to osimertinib
- Resistance of ERBB2 KD mutants to afatinib
- Resistance of ERBB2 KD mutants to AEE788
- Resistance of ERBB2 KD mutants to lapatinib
- Signaling by ERBB2 ECD mutants
- Signaling by ERBB2 TMD/JMD mutants
- Drug resistance in ERBB2 TMD/JMD mutants
- Potential therapeutics for SARS
- SARS-CoV-2 activates/modulates innate and adaptive immune responses
- Assembly and release of respiratory syncytial virus (RSV) virions
- Respiratory syncytial virus genome replication
|
- Rifabutin
- Nedocromil
- 9-Butyl-8-(2,5-Dimethoxy-Benzyl)-9h-Purin-6-Ylamine
- Geldanamycin
- 8-(2-Chloro-3,4,5-Trimethoxy-Benzyl)-2-Fluoro-9-Pent-4-Ylnyl-9h-Purin-6-Ylamine
- 9-Butyl-8-(3,4,5-Trimethoxybenzyl)-9h-Purin-6-Amine
- 4-(1,3-Benzodioxol-5-Yl)-5-(5-Ethyl-2,4-Dihydroxyphenyl)-2h-Pyrazole-3-Carboxylic Acid
- 8-(2,5-Dimethoxy-Benzyl)-2-Fluoro-9h-Purin-6-Ylamine
- 8-(2,5-Dimethoxy-Benzyl)-2-Fluoro-9-Pent-9h-Purin-6-Ylamine
- 9-Butyl-8-(2-Chloro-3,4,5-Trimethoxy-Benzyl)-9h-Purin-6-Ylamine
- 4-(1h-Imidazol-4-Yl)-3-(5-Ethyl-2,4-Dihydroxy-Phenyl)-1h-Pyrazole
- 9-Butyl-8-(3-Methoxybenzyl)-9h-Purin-6-Amine
- 9-Butyl-8-(4-Methoxybenzyl)-9h-Purin-6-Amine
- 9-Butyl-8-(2,5-Dimethoxy-Benzyl)-2-Fluoro-9h-Purin-6-Ylamine
- Quercetin
- 8-Benzo[1,3]Dioxol-,5-Ylmethyl-9-Butyl-2-Fluoro-9h-Purin-6-Ylamine
- 8-(2-Chloro-3,4,5-Trimethoxy-Benzyl)-9-Pent-4-Ylnyl-9h-Purin-6-Ylamine
- N-[4-(AMINOSULFONYL)BENZYL]-5-(5-CHLORO-2,4-DIHYDROXYPHENYL)-1H-PYRAZOLE-4-CARBOXAMIDE
- Tanespimycin
- SNX-5422
- N-(4-ACETYLPHENYL)-5-(5-CHLORO-2,4-DIHYDROXYPHENYL)-1H-PYRAZOLE-4-CARBOXAMIDE
- 4-CHLORO-6-(4-{4-[4-(METHYLSULFONYL)BENZYL]PIPERAZIN-1-YL}-1H-PYRAZOL-5-YL)BENZENE-1,3-DIOL
- 5-(5-CHLORO-2,4-DIHYDROXYPHENYL)-N-ETHYL-4-PIPERAZIN-1-YL-1H-PYRAZOLE-3-CARBOXAMIDE
- 5-(5-chloro-2,4-dihydroxyphenyl)-N-ethyl-4-[4-(morpholin-4-ylmethyl)phenyl]isoxazole-3-carboxamide
- 5-(5-CHLORO-2,4-DIHYDROXYPHENYL)-N-ETHYL-4-(4-METHOXYPHENYL)ISOXAZOLE-3-CARBOXAMIDE
- 2-amino-4-[2,4-dichloro-5-(2-pyrrolidin-1-ylethoxy)phenyl]-N-ethylthieno[2,3-d]pyrimidine-6-carboxamide
- 4-CHLORO-6-(4-PIPERAZIN-1-YL-1H-PYRAZOL-5-YL)BENZENE-1,3-DIOL
- (3E)-3-[(phenylamino)methylidene]dihydrofuran-2(3H)-one
- 6-(3-BROMO-2-NAPHTHYL)-1,3,5-TRIAZINE-2,4-DIAMINE
- 3-({2-[(2-AMINO-6-METHYLPYRIMIDIN-4-YL)ETHYNYL]BENZYL}AMINO)-1,3-OXAZOL-2(3H)-ONE
- N-[(2-AMINO-6-METHYLPYRIMIDIN-4-YL)METHYL]-3-{[(E)-(2-OXODIHYDROFURAN-3(2H)-YLIDENE)METHYL]AMINO}BENZENESULFONAMIDE
- 5-(5-CHLORO-2,4-DIHYDROXYPHENYL)-N-ETHYL-4-(4-METHOXYPHENYL)-1H-PYRAZOLE-3-CARBOXAMIDE
- 4-bromo-6-(6-hydroxy-1,2-benzisoxazol-3-yl)benzene-1,3-diol
- CCT-018159
- 4-chloro-6-{5-[(2-morpholin-4-ylethyl)amino]-1,2-benzisoxazol-3-yl}benzene-1,3-diol
- 8-(6-BROMO-BENZO[1,3]DIOXOL-5-YLSULFANYL)-9-(3-ISOPROPYLAMINO-PROPYL)-ADENINE
- 4-methyl-7,8-dihydro-5H-thiopyrano[4,3-d]pyrimidin-2-amine
- (5E,7S)-2-amino-7-(4-fluoro-2-pyridin-3-ylphenyl)-4-methyl-7,8-dihydroquinazolin-5(6H)-one oxime
- 8-BENZO[1,3]DIOXOL-,5-YLMETHYL-9-BUTYL-9H-
- 4-{[(2R)-2-(2-methylphenyl)pyrrolidin-1-yl]carbonyl}benzene-1,3-diol
- 2-(1H-pyrrol-1-ylcarbonyl)benzene-1,3,5-triol
- 2-[(2-methoxyethyl)amino]-4-(4-oxo-1,2,3,4-tetrahydro-9H-carbazol-9-yl)benzamide
- 4-(2-methoxyethoxy)-6-methylpyrimidin-2-amine
- 4-(2,4-dichlorophenyl)-5-phenyldiazenyl-pyrimidin-2-amine
- 3,6-DIAMINO-5-CYANO-4-(4-ETHOXYPHENYL)THIENO[2,3-B]PYRIDINE-2-CARBOXAMIDE
- 2-AMINO-4-(2,4-DICHLOROPHENYL)-N-ETHYLTHIENO[2,3-D]PYRIMIDINE-6-CARBOXAMIDE
- Copper
- Polaprezinc
- Alvespimycin
|
|
|
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-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
- SUMOylation of immune response proteins
- Regulation of TNFR1 signaling
- TNFR1-induced NF-kappa-B 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
- SARS-CoV-2 activates/modulates innate and adaptive immune responses
- IRAK1 recruits IKK complex upon TLR7/8 or 9 stimulation
- Regulation of NF-kappa B signaling
- PKR-mediated signaling
- SLC15A4:TASL-dependent IRF5 activation
- Turbulent (oscillatory, disturbed) flow shear stress activates signaling by PIEZO1 and integrins in endothelial cells
- Modulation of host responses by IFN-stimulated genes
|
|
- Incontinentia pigmenti
- 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
- Osteoporosis, lymphedema, anhydrotic ectodermal dysplasia with immunodeficiency (OLEDAID); Ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema
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IL1RAP
|
interleukin 1 receptor accessory protein |
|
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