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ERGIC3 |
ERGIC and golgi 3 |
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FAM174A |
family with sequence similarity 174 member A |
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FAM209A |
family with sequence similarity 209 member A |
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FAM210B |
family with sequence similarity 210 member B |
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GPR152 |
G protein-coupled receptor 152 |
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JAGN1 |
jagunal homolog 1 |
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KASH5 |
KASH domain containing 5 |
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LMNA |
lamin A/C |
- XBP1(S) activates chaperone genes
- Signaling by BRAF and RAF fusions
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- Restrictive dermopathy
- Emery-Dreifuss muscular dystrophy
- Dilated cardiomyopathy (DCM)
- Charcot-Marie-Tooth disease (CMT); Hereditary motor and sensory neuropathy; Peroneal muscular atrophy
- Mandibuloacral dysplasia
- Congenital muscular dystrophies (CMD/MDC), including: Merosin-deficient CMD (MDC1A); Ullrich CMD (UCMD); Integrin alpha7-deficient CMD; CMD with joint hyperlaxity (CMDH); CMD with epidermolysis bullosa; Walker-Warburg syndrome (WWS); Muscle-eye-brain disease (MEB); Fukuyama CMD (FCMD); CMD with muscle hypertrophy (MDC1C); CMD with severe intellectual impairment and abnormal glycosylation (MDC1D); Rigid spine syndrome (RSS); LMNA-deficient CMD; CMD with respiratory failure and muscle hypertrophy (MDC1B); Bethlem myopathy
- Limb-girdle muscular dystrophy (LGMD)
- Familial partial lipodystrophy (FPL), including the following four diseases: Kobberling-type lipodystrophy (FPLD1); Dunnigan-type lipodystrophy (FPLD2); Dunnigan-like lipodystrophy (FPLD3); AKT2 associated lipodystrophy
- Hutchinson-Gilford progeria syndrome
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MSMO1 |
methylsterol monooxygenase 1 |
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NOS1 |
nitric oxide synthase 1 |
- ROS and RNS production in phagocytes
- Nitric oxide stimulates guanylate cyclase
- Ion homeostasis
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- Citrulline
- Donepezil
- Ketamine
- L-N(omega)-Nitroarginine-2,4-L-diaminobutyric amide
- Formic acid
- 3-Bromo-7-Nitroindazole
- N-{(4S)-4-Amino-5-[(2-aminoethyl)amino]pentyl}-N'-nitroguanidine
- N-[3-(aminomethyl)benzyl]acetamidine
- L-N(omega)-nitroarginine-(4R)-amino-L-proline amide
- 1-hydroxy-2-isopropylguanidine
- N-omega-propyl-L-arginine
- 2-butyl-1-hydroxyguanidine
- S-Ethyl-N-[4-(Trifluoromethyl)Phenyl]Isothiourea
- N(5)-[(hydroxyamino)(imino)methyl]-L-ornithine
- Flavin adenine dinucleotide
- Flavin mononucleotide
- N-(4-{2-[(3-chlorobenzyl)amino]ethyl}phenyl)thiophene-2-carboximidamide
- Nicotinamide adenine dinucleotide phosphate
- S-Ethyl-N-Phenyl-Isothiourea
- [(1S)-4-(1-Aminobutylideneamino)-1-carboxybutyl]azanium
- 5-N-Allyl-arginine
- Nitroarginine
- NXN-188
- N-{(3S,4S)-4-[(6-AMINO-4-METHYLPYRIDIN-2-YL)METHYL]PYRROLIDIN-3-YL}-N'-(4-CHLOROBENZYL)ETHANE-1,2-DIAMINE
- N-{(3R,4S)-4-[(6-amino-4-methylpyridin-2-yl)methyl]pyrrolidin-3-yl}-N'-(3-chlorobenzyl)ethane-1,2-diamine
- Methylene blue
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PDZK1IP1 |
PDZK1 interacting protein 1 |
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POR |
cytochrome p450 oxidoreductase |
- Cytochrome P450 - arranged by substrate type
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- Flavin adenine dinucleotide
- Flavin mononucleotide
- Nicotinamide adenine dinucleotide phosphate
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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)
- 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
- 46,XX disorders of sex development (Disorders related to androgen excess), including: Congenital adrenal hyperplasias; Glucocorticoid resistance; Aromatase deficiency
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POT1 |
protection of telomeres 1 |
- 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
- Telomere Extension By Telomerase
- Polymerase switching on the C-strand of the telomere
- Processive synthesis on the C-strand of the telomere
- Telomere C-strand (Lagging Strand) Synthesis
- Telomere C-strand synthesis initiation
- Removal of the Flap Intermediate from the C-strand
- DNA Damage/Telomere Stress Induced Senescence
- Inhibition of DNA recombination at telomere
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PTGER4 |
prostaglandin E receptor 4 |
- Prostanoid ligand receptors
- G alpha (s) signalling events
- ADORA2B mediated anti-inflammatory cytokines production
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- Dinoprostone
- Misoprostol
- Limaprost
- Castor oil
- Grapiprant
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SEC11C |
SEC11 homolog C, signal peptidase complex subunit |
- SRP-dependent cotranslational protein targeting to membrane
- Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1)
- Synthesis, secretion, and inactivation of Glucose-dependent Insulinotropic Polypeptide (GIP)
- Synthesis, secretion, and deacylation of Ghrelin
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SLC16A7 |
solute carrier family 16 member 7 |
- Proton-coupled monocarboxylate transport
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SMO |
smoothened, frizzled class receptor |
- Class B/2 (Secretin family receptors)
- Hedgehog 'off' state
- BBSome-mediated cargo-targeting to cilium
- Hedgehog 'on' state
- Activation of SMO
- Activation of SMO
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- Fluocinonide
- Halcinonide
- Vismodegib
- Sonidegib
- Glasdegib
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STX1A |
syntaxin 1A |
- Serotonin Neurotransmitter Release Cycle
- Norepinephrine Neurotransmitter Release Cycle
- Glutamate Neurotransmitter Release Cycle
- Dopamine Neurotransmitter Release Cycle
- Acetylcholine Neurotransmitter Release Cycle
- Insulin processing
- Regulation of insulin secretion
- Other interleukin signaling
- Toxicity of botulinum toxin type C (botC)
- LGI-ADAM interactions
- Neurexins and neuroligins
- GABA synthesis, release, reuptake and degradation
- Insertion of tail-anchored proteins into the endoplasmic reticulum membrane
- Insertion of tail-anchored proteins into the endoplasmic reticulum membrane
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TERF1 |
telomeric repeat binding factor 1 |
- 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
- Telomere Extension By Telomerase
- Polymerase switching on the C-strand of the telomere
- Processive synthesis on the C-strand of the telomere
- Telomere C-strand (Lagging Strand) Synthesis
- Telomere C-strand synthesis initiation
- Removal of the Flap Intermediate from the C-strand
- DNA Damage/Telomere Stress Induced Senescence
- Inhibition of DNA recombination at telomere
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TLCD4 |
TLC domain containing 4 |
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