CHML and RAB3A |
CHM like Rab escort protein |
RAB3A, member RAS oncogene family |
- RAB geranylgeranylation
- RAB GEFs exchange GTP for GDP on RABs
|
- Serotonin Neurotransmitter Release Cycle
- Norepinephrine Neurotransmitter Release Cycle
- Glutamate Neurotransmitter Release Cycle
- Dopamine Neurotransmitter Release Cycle
- Acetylcholine Neurotransmitter Release Cycle
- Neutrophil degranulation
- RAB geranylgeranylation
- RAB GEFs exchange GTP for GDP on RABs
- GABA synthesis, release, reuptake and degradation
|
|
|
|
|
CHN1 and RAC1 |
chimerin 1 |
Rac family small GTPase 1 |
|
- GPVI-mediated activation cascade
- PIP3 activates AKT signaling
- Signaling by SCF-KIT
- Translocation of SLC2A4 (GLUT4) to the plasma membrane
- Nef and signal transduction
- NRAGE signals death through JNK
- Rho GTPase cycle
- Regulation of actin dynamics for phagocytic cup formation
- Regulation of actin dynamics for phagocytic cup formation
- Constitutive Signaling by Aberrant PI3K in Cancer
- DAP12 signaling
- FCERI mediated MAPK activation
- DSCAM interactions
- CD28 dependent Vav1 pathway
- EPHB-mediated forward signaling
- Ephrin signaling
- EPH-ephrin mediated repulsion of cells
- Sema3A PAK dependent Axon repulsion
- SEMA3A-Plexin repulsion signaling by inhibiting Integrin adhesion
- PCP/CE pathway
- Sema4D mediated inhibition of cell attachment and migration
- DCC mediated attractive signaling
- DCC mediated attractive signaling
- Activation of RAC1
- Inactivation of CDC42 and RAC1
- VEGFA-VEGFR2 Pathway
- Signal transduction by L1
- VEGFR2 mediated vascular permeability
- RHO GTPases activate PKNs
- RHO GTPases activate CIT
- RHO GTPases activate CIT
- RHO GTPases activate KTN1
- RHO GTPases activate IQGAPs
- RHO GTPases activate PAKs
- RHO GTPases Activate WASPs and WAVEs
- RHO GTPases Activate WASPs and WAVEs
- RHO GTPases Activate Formins
- RHO GTPases Activate Formins
- RHO GTPases Activate NADPH Oxidases
- MAPK6/MAPK4 signaling
- Neutrophil degranulation
- PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
- PTK6 Regulates RHO GTPases, RAS GTPase and MAP kinases
- MET activates RAP1 and RAC1
- NTRK2 activates RAC1
- Activated NTRK2 signals through CDK5
- Activation of RAC1 downstream of NMDARs
- FCGR3A-mediated phagocytosis
- FCGR3A-mediated phagocytosis
- WNT5:FZD7-mediated leishmania damping
- Factors involved in megakaryocyte development and platelet production
|
|
- Dextromethorphan
- Azathioprine
- Guanosine-5'-Diphosphate
|
- Duane retraction syndrome
|
|
CHN2 and RAC1 |
chimerin 2 |
Rac family small GTPase 1 |
|
- GPVI-mediated activation cascade
- PIP3 activates AKT signaling
- Signaling by SCF-KIT
- Translocation of SLC2A4 (GLUT4) to the plasma membrane
- Nef and signal transduction
- NRAGE signals death through JNK
- Rho GTPase cycle
- Regulation of actin dynamics for phagocytic cup formation
- Regulation of actin dynamics for phagocytic cup formation
- Constitutive Signaling by Aberrant PI3K in Cancer
- DAP12 signaling
- FCERI mediated MAPK activation
- DSCAM interactions
- CD28 dependent Vav1 pathway
- EPHB-mediated forward signaling
- Ephrin signaling
- EPH-ephrin mediated repulsion of cells
- Sema3A PAK dependent Axon repulsion
- SEMA3A-Plexin repulsion signaling by inhibiting Integrin adhesion
- PCP/CE pathway
- Sema4D mediated inhibition of cell attachment and migration
- DCC mediated attractive signaling
- DCC mediated attractive signaling
- Activation of RAC1
- Inactivation of CDC42 and RAC1
- VEGFA-VEGFR2 Pathway
- Signal transduction by L1
- VEGFR2 mediated vascular permeability
- RHO GTPases activate PKNs
- RHO GTPases activate CIT
- RHO GTPases activate CIT
- RHO GTPases activate KTN1
- RHO GTPases activate IQGAPs
- RHO GTPases activate PAKs
- RHO GTPases Activate WASPs and WAVEs
- RHO GTPases Activate WASPs and WAVEs
- RHO GTPases Activate Formins
- RHO GTPases Activate Formins
- RHO GTPases Activate NADPH Oxidases
- MAPK6/MAPK4 signaling
- Neutrophil degranulation
- PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
- PTK6 Regulates RHO GTPases, RAS GTPase and MAP kinases
- MET activates RAP1 and RAC1
- NTRK2 activates RAC1
- Activated NTRK2 signals through CDK5
- Activation of RAC1 downstream of NMDARs
- FCGR3A-mediated phagocytosis
- FCGR3A-mediated phagocytosis
- WNT5:FZD7-mediated leishmania damping
- Factors involved in megakaryocyte development and platelet production
|
|
- Dextromethorphan
- Azathioprine
- Guanosine-5'-Diphosphate
|
|
|
LYST and YWHAZ |
lysosomal trafficking regulator |
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta |
|
- Activation of BAD and translocation to mitochondria
- Translocation of SLC2A4 (GLUT4) to the plasma membrane
- Deactivation of the beta-catenin transactivating complex
- Rap1 signalling
- GP1b-IX-V activation signalling
- KSRP (KHSRP) binds and destabilizes mRNA
- Interleukin-3, Interleukin-5 and GM-CSF signaling
- RHO GTPases activate PKNs
- TP53 Regulates Metabolic Genes
- Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex
- NOTCH4 Activation and Transmission of Signal to the Nucleus
- Negative regulation of NOTCH4 signaling
- Regulation of localization of FOXO transcription factors
|
|
|
- Other phagocyte defects, including the following eight diseases: Chediak-Higashi syndrome; Griscelli syndrome, type 1 (GS1); Griscelli syndrome, type 2 (GS2); Griscelli syndrome, type 3 (GS3); beta-actin deficiency; Neutrophil-specific granule deficiency; Myeloperoxidase deficiency; Glucose 6-phosphate dehydrogenase deficiency; Shwachman syndrome
|
|
CHRNA1 and ITGA7 |
cholinergic receptor nicotinic alpha 1 subunit |
integrin subunit alpha 7 |
- Highly calcium permeable postsynaptic nicotinic acetylcholine receptors
- Highly calcium permeable nicotinic acetylcholine receptors
|
- Integrin cell surface interactions
- Laminin interactions
- Laminin interactions
- ECM proteoglycans
|
|
|
- Congenital myasthenic syndrome
- Multiple pterygium syndrome, including: Multiple pterygium syndrome, lethal type (LMPS); Multiple pterygium syndrome, Escobar variant (EVMPS)
|
- 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
|
CHRNA4 and CRELD2 |
cholinergic receptor nicotinic alpha 4 subunit |
cysteine rich with EGF like domains 2 |
- Highly sodium permeable postsynaptic acetylcholine nicotinic receptors
- Highly calcium permeable postsynaptic nicotinic acetylcholine receptors
- Highly calcium permeable nicotinic acetylcholine receptors
|
|
- Nicotine
- Butabarbital
- Butalbital
- Talbutal
- Pentobarbital
- Secobarbital
- Metharbital
- Dextromethorphan
- Carbamazepine
- Atropine
- Thiopental
- Mecamylamine
- Galantamine
- Scopolamine
- Estradiol
- Primidone
- Methylphenobarbital
- Ethanol
- Physostigmine
- Phenobarbital
- Decamethonium
- Varenicline
- Amobarbital
- Aprobarbital
- Butethal
- Heptabarbital
- Hexobarbital
- Barbital
- Barbituric acid derivative
- Pozanicline
- RPI-78M
- Epibatidine
- Cytisine
|
|
- Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE); Nocturnal frontal lobe epilepsy (NFLE)
|
|
CHRNA4 and VSNL1 |
cholinergic receptor nicotinic alpha 4 subunit |
visinin like 1 |
- Highly sodium permeable postsynaptic acetylcholine nicotinic receptors
- Highly calcium permeable postsynaptic nicotinic acetylcholine receptors
- Highly calcium permeable nicotinic acetylcholine receptors
|
|
- Nicotine
- Butabarbital
- Butalbital
- Talbutal
- Pentobarbital
- Secobarbital
- Metharbital
- Dextromethorphan
- Carbamazepine
- Atropine
- Thiopental
- Mecamylamine
- Galantamine
- Scopolamine
- Estradiol
- Primidone
- Methylphenobarbital
- Ethanol
- Physostigmine
- Phenobarbital
- Decamethonium
- Varenicline
- Amobarbital
- Aprobarbital
- Butethal
- Heptabarbital
- Hexobarbital
- Barbital
- Barbituric acid derivative
- Pozanicline
- RPI-78M
- Epibatidine
- Cytisine
|
|
- Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE); Nocturnal frontal lobe epilepsy (NFLE)
|
|
CHRNA4 and YWHAH |
cholinergic receptor nicotinic alpha 4 subunit |
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein eta |
- Highly sodium permeable postsynaptic acetylcholine nicotinic receptors
- Highly calcium permeable postsynaptic nicotinic acetylcholine receptors
- Highly calcium permeable nicotinic acetylcholine receptors
|
- Activation of BAD and translocation to mitochondria
- Translocation of SLC2A4 (GLUT4) to the plasma membrane
- RHO GTPases activate PKNs
- TP53 Regulates Metabolic Genes
- Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex
|
- Nicotine
- Butabarbital
- Butalbital
- Talbutal
- Pentobarbital
- Secobarbital
- Metharbital
- Dextromethorphan
- Carbamazepine
- Atropine
- Thiopental
- Mecamylamine
- Galantamine
- Scopolamine
- Estradiol
- Primidone
- Methylphenobarbital
- Ethanol
- Physostigmine
- Phenobarbital
- Decamethonium
- Varenicline
- Amobarbital
- Aprobarbital
- Butethal
- Heptabarbital
- Hexobarbital
- Barbital
- Barbituric acid derivative
- Pozanicline
- RPI-78M
- Epibatidine
- Cytisine
|
|
- Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE); Nocturnal frontal lobe epilepsy (NFLE)
|
|
CHRNA4 and RHOU |
cholinergic receptor nicotinic alpha 4 subunit |
ras homolog family member U |
- Highly sodium permeable postsynaptic acetylcholine nicotinic receptors
- Highly calcium permeable postsynaptic nicotinic acetylcholine receptors
- Highly calcium permeable nicotinic acetylcholine receptors
|
- Rho GTPase cycle
- Interleukin-4 and Interleukin-13 signaling
|
- Nicotine
- Butabarbital
- Butalbital
- Talbutal
- Pentobarbital
- Secobarbital
- Metharbital
- Dextromethorphan
- Carbamazepine
- Atropine
- Thiopental
- Mecamylamine
- Galantamine
- Scopolamine
- Estradiol
- Primidone
- Methylphenobarbital
- Ethanol
- Physostigmine
- Phenobarbital
- Decamethonium
- Varenicline
- Amobarbital
- Aprobarbital
- Butethal
- Heptabarbital
- Hexobarbital
- Barbital
- Barbituric acid derivative
- Pozanicline
- RPI-78M
- Epibatidine
- Cytisine
|
|
- Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE); Nocturnal frontal lobe epilepsy (NFLE)
|
|
CHRNA4 and CSNK2B |
cholinergic receptor nicotinic alpha 4 subunit |
casein kinase 2 beta |
- Highly sodium permeable postsynaptic acetylcholine nicotinic receptors
- Highly calcium permeable postsynaptic nicotinic acetylcholine receptors
- Highly calcium permeable nicotinic acetylcholine receptors
|
- Synthesis of PC
- WNT mediated activation of DVL
- Condensation of Prometaphase Chromosomes
- Signal transduction by L1
- Neutrophil degranulation
- Regulation of TP53 Activity through Phosphorylation
- Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding
- Receptor Mediated Mitophagy
- RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known
- Regulation of PTEN stability and activity
|
- Nicotine
- Butabarbital
- Butalbital
- Talbutal
- Pentobarbital
- Secobarbital
- Metharbital
- Dextromethorphan
- Carbamazepine
- Atropine
- Thiopental
- Mecamylamine
- Galantamine
- Scopolamine
- Estradiol
- Primidone
- Methylphenobarbital
- Ethanol
- Physostigmine
- Phenobarbital
- Decamethonium
- Varenicline
- Amobarbital
- Aprobarbital
- Butethal
- Heptabarbital
- Hexobarbital
- Barbital
- Barbituric acid derivative
- Pozanicline
- RPI-78M
- Epibatidine
- Cytisine
|
|
- Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE); Nocturnal frontal lobe epilepsy (NFLE)
|
|
CHRNA4 and CHRNB2 |
cholinergic receptor nicotinic alpha 4 subunit |
cholinergic receptor nicotinic beta 2 subunit |
- Highly sodium permeable postsynaptic acetylcholine nicotinic receptors
- Highly calcium permeable postsynaptic nicotinic acetylcholine receptors
- Highly calcium permeable nicotinic acetylcholine receptors
|
- Highly sodium permeable postsynaptic acetylcholine nicotinic receptors
- Highly calcium permeable postsynaptic nicotinic acetylcholine receptors
- Highly calcium permeable nicotinic acetylcholine receptors
|
- Nicotine
- Butabarbital
- Butalbital
- Talbutal
- Pentobarbital
- Secobarbital
- Metharbital
- Dextromethorphan
- Carbamazepine
- Atropine
- Thiopental
- Mecamylamine
- Galantamine
- Scopolamine
- Estradiol
- Primidone
- Methylphenobarbital
- Ethanol
- Physostigmine
- Phenobarbital
- Decamethonium
- Varenicline
- Amobarbital
- Aprobarbital
- Butethal
- Heptabarbital
- Hexobarbital
- Barbital
- Barbituric acid derivative
- Pozanicline
- RPI-78M
- Epibatidine
- Cytisine
|
- Nicotine
- Dextromethorphan
- Carbamazepine
- Atropine
- Mecamylamine
- Galantamine
- Scopolamine
- Ethanol
- Physostigmine
- Decamethonium
- Varenicline
- Pozanicline
- RPI-78M
- Rivanicline
- Epibatidine
- Cytisine
|
- Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE); Nocturnal frontal lobe epilepsy (NFLE)
|
- Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE); Nocturnal frontal lobe epilepsy (NFLE)
|
CHRNA4 and CHRNB4 |
cholinergic receptor nicotinic alpha 4 subunit |
cholinergic receptor nicotinic beta 4 subunit |
- Highly sodium permeable postsynaptic acetylcholine nicotinic receptors
- Highly calcium permeable postsynaptic nicotinic acetylcholine receptors
- Highly calcium permeable nicotinic acetylcholine receptors
|
- Highly sodium permeable postsynaptic acetylcholine nicotinic receptors
- Highly calcium permeable postsynaptic nicotinic acetylcholine receptors
- Highly calcium permeable nicotinic acetylcholine receptors
- Neutrophil degranulation
|
- Nicotine
- Butabarbital
- Butalbital
- Talbutal
- Pentobarbital
- Secobarbital
- Metharbital
- Dextromethorphan
- Carbamazepine
- Atropine
- Thiopental
- Mecamylamine
- Galantamine
- Scopolamine
- Estradiol
- Primidone
- Methylphenobarbital
- Ethanol
- Physostigmine
- Phenobarbital
- Decamethonium
- Varenicline
- Amobarbital
- Aprobarbital
- Butethal
- Heptabarbital
- Hexobarbital
- Barbital
- Barbituric acid derivative
- Pozanicline
- RPI-78M
- Epibatidine
- Cytisine
|
- Nicotine
- Dextromethorphan
- Galantamine
- Ethanol
- Pentolinium
- Levomethadyl Acetate
- Epibatidine
|
- Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE); Nocturnal frontal lobe epilepsy (NFLE)
|
|
CHRNA4 and UBQLN1 |
cholinergic receptor nicotinic alpha 4 subunit |
ubiquilin 1 |
- Highly sodium permeable postsynaptic acetylcholine nicotinic receptors
- Highly calcium permeable postsynaptic nicotinic acetylcholine receptors
- Highly calcium permeable nicotinic acetylcholine receptors
|
- Cargo recognition for clathrin-mediated endocytosis
|
- Nicotine
- Butabarbital
- Butalbital
- Talbutal
- Pentobarbital
- Secobarbital
- Metharbital
- Dextromethorphan
- Carbamazepine
- Atropine
- Thiopental
- Mecamylamine
- Galantamine
- Scopolamine
- Estradiol
- Primidone
- Methylphenobarbital
- Ethanol
- Physostigmine
- Phenobarbital
- Decamethonium
- Varenicline
- Amobarbital
- Aprobarbital
- Butethal
- Heptabarbital
- Hexobarbital
- Barbital
- Barbituric acid derivative
- Pozanicline
- RPI-78M
- Epibatidine
- Cytisine
|
|
- Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE); Nocturnal frontal lobe epilepsy (NFLE)
|
|
CHUK and TRAF4 |
component of inhibitor of nuclear factor kappa B kinase complex |
TNF receptor associated factor 4 |
- 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
- AKT phosphorylates targets in the cytosol
- Downstream TCR signaling
- FCERI mediated NF-kB activation
- TAK1 activates NFkB by phosphorylation and activation of IKKs complex
- 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
- Dectin-1 mediated noncanonical NF-kB signaling
- CLEC7A (Dectin-1) signaling
- Constitutive Signaling by AKT1 E17K in Cancer
- NIK - noncanonical NF-kB signaling
- MAP3K8 (TPL2)-dependent MAPK1/3 activation
- 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
|
|
- Aminosalicylic Acid
- Mesalazine
- Sulfasalazine
- Acetylcysteine
|
|
|
|
CISH and CSF2RB |
cytokine inducible SH2 containing protein |
colony stimulating factor 2 receptor subunit beta |
- Interleukin-7 signaling
- Neddylation
- Growth hormone receptor signaling
|
- Interleukin-3, Interleukin-5 and GM-CSF signaling
- Interleukin-3, Interleukin-5 and GM-CSF signaling
- RAF/MAP kinase cascade
- Surfactant metabolism
- Defective CSF2RB causes pulmonary surfactant metabolism dysfunction 5 (SMDP5)
- Defective CSF2RA causes pulmonary surfactant metabolism dysfunction 4 (SMDP4)
- Interleukin receptor SHC signaling
|
|
- Sargramostim
- NPI 32101
- Resatorvid
|
|
|
CKMT2 and ELN |
creatine kinase, mitochondrial 2 |
elastin |
|
- Degradation of the extracellular matrix
- Elastic fibre formation
- Molecules associated with elastic fibres
- Molecules associated with elastic fibres
|
|
|
|
- Congenital supravalvar aortic stenosis
- Cutis laxa, including: Autosomal dominant cutis laxa (ADCL); Autosomal recessive cutis laxa I (ARCL1); Autosomal recessive cutis laxa II (ARCL2); X-linked recessive cutis laxa (XRCL); Wrinkly skin syndrome
|
CLCN7 and LMNA |
chloride voltage-gated channel 7 |
lamin A/C |
|
- XBP1(S) activates chaperone genes
- Signaling by BRAF and RAF fusions
|
|
|
- Osteopetrosis, including: Osteopetrosis, severe neonatal or infantile forms; Osteopetrosis, intermediate forms; Osteopetrosis with renal tubular acidosis; Osteopetrosis, late-onset form type 1; Osteopetrosis, late-onset form type 2; Osteopetrosis, osteoclast poor
|
- 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
|
CLU and ELN |
clusterin |
elastin |
- Platelet degranulation
- Terminal pathway of complement
- Antimicrobial peptides
- Regulation of Complement cascade
|
- Degradation of the extracellular matrix
- Elastic fibre formation
- Molecules associated with elastic fibres
- Molecules associated with elastic fibres
|
|
|
|
- Congenital supravalvar aortic stenosis
- Cutis laxa, including: Autosomal dominant cutis laxa (ADCL); Autosomal recessive cutis laxa I (ARCL1); Autosomal recessive cutis laxa II (ARCL2); X-linked recessive cutis laxa (XRCL); Wrinkly skin syndrome
|
CLK1 and HNMT |
CDC like kinase 1 |
histamine N-methyltransferase |
|
- Metabolism of ingested SeMet, Sec, MeSec into H2Se
- Histidine catabolism
|
- Debromohymenialdisine
- ethyl 3-[(E)-2-amino-1-cyanoethenyl]-6,7-dichloro-1-methyl-1H-indole-2-carboxylate
|
- Amodiaquine
- S-adenosyl-L-homocysteine
- Metoprine
- 4-(DIMETHYLAMINO)BUTYL IMIDOTHIOCARBAMATE
- Harmaline
|
|
|
CLK1 and LMNA |
CDC like kinase 1 |
lamin A/C |
|
- XBP1(S) activates chaperone genes
- Signaling by BRAF and RAF fusions
|
- Debromohymenialdisine
- ethyl 3-[(E)-2-amino-1-cyanoethenyl]-6,7-dichloro-1-methyl-1H-indole-2-carboxylate
|
|
|
- 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
|