Platelet activation, signaling and aggregation
Response to elevated platelet cytosolic Ca2+
Intrinsic Pathway of Fibrin Clot Formation
Formation of Fibrin Clot (Clotting Cascade)
Plasma lipoprotein assembly, remodeling, and clearance
Phase I - Functionalization of compounds
Metabolism of amino acids and derivatives
GABA synthesis, release, reuptake and degradation
Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)
Defective ABCA3 causes pulmonary surfactant metabolism dysfunction type 3 (SMDP3)
Diseases associated with surfactant metabolism
Defective ABCA3 causes pulmonary surfactant metabolism dysfunction 3 (SMDP3)
The canonical retinoid cycle in rods (twilight vision)
Diseases associated with visual transduction
Fcgamma receptor (FCGR) dependent phagocytosis
Regulation of actin dynamics for phagocytic cup formation
HDR through Single Strand Annealing (SSA)
Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
HDR through Homologous Recombination (HRR) or Single Strand Annealing (SSA)
RUNX1 regulates transcription of genes involved in differentiation of HSCs
Factors involved in megakaryocyte development and platelet production
Cell death signalling via NRAGE, NRIF and NADE
alpha-linolenic (omega3) and linoleic (omega6) acid metabolism
Beta-oxidation of very long chain fatty acids
ChREBP activates metabolic gene expression
Regulation of cholesterol biosynthesis by SREBP (SREBF)
Metabolism of water-soluble vitamins and cofactors
Import of palmitoyl-CoA into the mitochondrial matrix
Activation of gene expression by SREBF (SREBP)
Defects in vitamin and cofactor metabolism
Defective HLCS causes multiple carboxylase deficiency
Beta oxidation of myristoyl-CoA to lauroyl-CoA
mitochondrial fatty acid beta-oxidation of saturated fatty acids
mitochondrial fatty acid beta-oxidation of unsaturated fatty acids
Beta oxidation of lauroyl-CoA to decanoyl-CoA-CoA
Beta oxidation of decanoyl-CoA to octanoyl-CoA-CoA
Beta oxidation of octanoyl-CoA to hexanoyl-CoA
Beta oxidation of hexanoyl-CoA to butanoyl-CoA
Beta oxidation of butanoyl-CoA to acetyl-CoA
Beta oxidation of palmitoyl-CoA to myristoyl-CoA
Synthesis, secretion, and deacylation of Ghrelin
The citric acid (TCA) cycle and respiratory electron transport
Pyruvate metabolism and Citric Acid (TCA) cycle
NOTCH4 Intracellular Domain Regulates Transcription
Translocation of SLC2A4 (GLUT4) to the plasma membrane
Epigenetic regulation of gene expression
Prefoldin mediated transfer of substrate  to CCT/TriC
Cooperation of Prefoldin and TriC/CCT  in actin and tubulin folding
Positive epigenetic regulation of rRNA expression
B-WICH complex positively regulates rRNA expression
Global Genome Nucleotide Excision Repair (GG-NER)
Signaling by moderate kinase activity BRAF mutants
Signaling by high-kinase activity BRAF mutants
Paradoxical activation of RAF signaling by kinase inactive BRAF
RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known
Regulation of cytoskeletal remodeling and cell spreading by IPP complex components
Neurotransmitter receptors and postsynaptic signal transmission
Unblocking of NMDA receptors, glutamate binding and activation
CREB phosphorylation through the activation of CaMKII
CREB phosphorylation through the activation of Ras
Activation of NMDA receptors and postsynaptic events
Ras activation upon Ca2+ influx through NMDA receptor
Metabolic disorders of biological oxidation enzymes
Activated NOTCH1 Transmits Signal to the Nucleus
Signaling by NOTCH1 PEST Domain Mutants in Cancer
Constitutive Signaling by NOTCH1 PEST Domain Mutants
Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant
Constitutive Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant
Signaling by NOTCH1 HD Domain Mutants in Cancer
Constitutive Signaling by NOTCH1 HD Domain Mutants
Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer
Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
NOTCH2 Activation and Transmission of Signal to the Nucleus
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
NOTCH3 Activation and Transmission of Signal to the Nucleus
NOTCH4 Activation and Transmission of Signal to the Nucleus
Formation of editosomes by ADAR proteins
Glucagon signaling in metabolic regulation
Vasopressin regulates renal water homeostasis via Aquaporins
CREB phosphorylation through the activation of Adenylate Cyclase
Intracellular signaling by second messengers
Glucagon-like Peptide-1 (GLP1) regulates insulin secretion
Caspase-mediated cleavage of cytoskeletal proteins
Miscellaneous transport and binding events
POLB-Dependent Long Patch Base Excision Repair
Resolution of AP sites via the multiple-nucleotide patch replacement pathway
Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimer
Downregulation of SMAD2/3:SMAD4 transcriptional activity
SUMOylation of DNA damage response and repair proteins
SUMO E3 ligases SUMOylate target proteins
Adrenaline signalling through Alpha-2 adrenergic receptor
Cargo recognition for clathrin-mediated endocytosis
Nef-mediates down modulation of cell surface receptors by recruiting them to clathrin adapters
The role of Nef in HIV-1 replication and disease pathogenesis
Glutamate binding, activation of AMPA receptors and synaptic plasticity
Trafficking of GluR2-containing AMPA receptors
WNT5A-dependent internalization of FZD2, FZD5 and ROR2
Nef mediated downregulation of MHC class I complex cell surface expression
Degradation of beta-catenin by the destruction complex
Diseases associated with glycosaminoglycan metabolism
Defective ST3GAL3 causes MCT12 and EIEE15
Defective B4GALT1 causes B4GALT1-CDG (CDG-2d)
MyD88:MAL(TIRAP) cascade initiated on plasma membrane
TAK1 activates NFkB by phosphorylation and activation of IKKs complex
Advanced glycosylation endproduct receptor signaling
TRAF6 mediated induction of NFkB and MAP kinases upon TLR7/8 or 9 activation
MyD88 dependent cascade initiated on endosome
MyD88 cascade initiated on plasma membrane
Metabolism of Angiotensinogen to Angiotensins
Glyoxylate metabolism and glycine degradation
Metabolism of ingested SeMet, Sec, MeSec into H2Se
Defective AHCY causes Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency (HMAHCHD)
Cytochrome P450 - arranged by substrate type
Interconversion of nucleotide di- and triphosphates
Activation of BAD and translocation to mitochondria
Tetrahydrobiopterin (BH4) synthesis, recycling, salvage and regulation
AKT phosphorylates targets in the cytosol
AKT phosphorylates targets in the nucleus
Negative regulation of the PI3K/AKT network
TCF dependent signaling in response to WNT
Regulation of gene expression in beta cells
Deactivation of the beta-catenin transactivating complex
G beta:gamma signalling through PI3Kgamma
Butyrate Response Factor 1 (BRF1) binds and destabilizes mRNA
Regulation of mRNA stability by proteins that bind AU-rich elements
KSRP (KHSRP) binds and destabilizes mRNA
Constitutive Signaling by AKT1 E17K in Cancer
Regulation of TP53 Activity through Acetylation
Regulation of TP53 Activity through Association with Co-factors
Regulation of TP53 Expression and Degradation
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
RUNX2 regulates genes involved in cell migration
Regulation of PTEN stability and activity
Signaling by Non-Receptor Tyrosine Kinases
Inhibition of TSC complex formation by PKB
Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)
Transcriptional activation of mitochondrial biogenesis
Binding and Uptake of Ligands by Scavenger Receptors
Transport of vitamins, nucleosides, and related molecules
Defective SLCO1B3 causes hyperbilirubinemia, Rotor type (HBLRR)
Defective SLCO1B1 causes hyperbilirubinemia, Rotor type (HBLRR)
Defective ABCD1 causes adrenoleukodystrophy (ALD)
Serotonin clearance from the synaptic cleft
Synthesis of Hepoxilins (HX) and Trioxilins (TrX)
Synthesis of 12-eicosatetraenoic acid derivatives
Biosynthesis of specialized proresolving mediators (SPMs)
Synthesis of Leukotrienes (LT) and Eoxins (EX)
Biosynthesis of aspirin-triggered D-series resolvins
Biosynthesis of DPAn-3-derived protectins and resolvins
Biosynthesis of DPAn-3-derived 13-series resolvins
Biosynthesis of electrophilic ω-3 PUFA oxo-derivatives
Synthesis of 15-eicosatetraenoic acid derivatives
Post-translational modification: synthesis of GPI-anchored proteins
Intra-Golgi and retrograde Golgi-to-ER traffic
N-glycan trimming in the ER and Calnexin/Calreticulin cycle
Cell surface interactions at the vascular wall
Transport to the Golgi and subsequent modification
Interactions of Vpr with host cellular proteins
Vpr-mediated induction of apoptosis by mitochondrial outer membrane permeabilization
Host Interactions with Influenza Factors
Formyl peptide receptors bind formyl peptides and many other ligands
Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation
Vitamins B6 activation to pyridoxal phosphate
Activation of caspases through apoptosome-mediated cleavage
TP53 Regulates Transcription of Cell Death Genes
TP53 Regulates Transcription of Caspase Activators and Caspases
Detoxification of Reactive Oxygen Species
Disassembly of the destruction complex and recruitment of AXIN to the membrane
AXIN mutants destabilize the destruction complex, activating WNT signaling
phosphorylation site mutants of CTNNB1 are not targeted to the proteasome by the destruction complex
truncated APC mutants destabilize the destruction complex
AMER1 mutants destabilize the destruction complex
Misspliced GSK3beta mutants stabilize beta-catenin
S33 mutants of beta-catenin aren't phosphorylated
S37 mutants of beta-catenin aren't phosphorylated
S45 mutants of beta-catenin aren't phosphorylated
T41 mutants of beta-catenin aren't phosphorylated
APC truncation mutants are not K63 polyubiquitinated
APC truncation mutants have impaired AXIN binding
AXIN missense mutants destabilize the destruction complex
Truncations of AMER1 destabilize the destruction complex
Displacement of DNA glycosylase by APEX1
Resolution of AP sites via the single-nucleotide replacement pathway
PCNA-Dependent Long Patch Base Excision Repair
Abasic sugar-phosphate removal via the single-nucleotide replacement pathway
Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways
TICAM1, RIP1-mediated IKK complex recruitment
TNF receptor superfamily (TNFSF) members mediating non-canonical NF-kB pathway
IKK complex recruitment mediated by RIP1
SMAC-mediated dissociation of IAP:caspase complexes
Amplification of signal from the kinetochores
Amplification  of signal from unattached  kinetochores via a MAD2  inhibitory signal
TP53 regulates transcription of several additional cell death genes whose specific roles in p53-dependent apoptosis remain uncertain
Assembly of active LPL and LIPC lipase complexes
Transcriptional regulation by the AP-2 (TFAP2) family of transcription factors
Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models
Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3
Caspase activation via Death Receptors in the presence of ligand
Caspase activation via extrinsic apoptotic signalling pathway
TP53 Regulates Transcription of Death Receptors and Ligands
Erythrocytes take up carbon dioxide and release oxygen
Erythrocytes take up oxygen and release carbon dioxide
Transport of glycerol from adipocytes to the liver by Aquaporins
HSP90 chaperone cycle for steroid hormone receptors (SHR)
Defective ABCC6 causes pseudoxanthoma elasticum (PXE)
Synthesis of PIPs at the plasma membrane
Cargo trafficking to the periciliary membrane
Axonal growth inhibition (RHOA activation)
TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition)
Sema4D mediated inhibition of cell attachment and migration
Sema4D induced cell migration and growth-cone collapse
RHO GTPases Activate Rhotekin and Rhophilins
PTK6 Regulates RHO GTPases, RAS GTPase and MAP kinases
Constitutive Signaling by Aberrant PI3K in Cancer
Retrograde transport at the Trans-Golgi-Network
Trafficking of myristoylated proteins to the cilium
Regulation of gene expression by Hypoxia-inducible Factor
Regulation of Hypoxia-inducible Factor (HIF) by oxygen
BMAL1:CLOCK,NPAS2 activates circadian gene expression
Thrombin signalling through proteinase activated receptors (PARs)
Gamma carboxylation, hypusine formation and arylsulfatase activation
Amino acid synthesis and interconversion (transamination)
Nuclear Events (kinase and transcription factor activation)
MAPK targets/ Nuclear events mediated by MAP kinases
ATF6 (ATF6-alpha) activates chaperone genes
DNA Damage/Telomere Stress Induced Senescence
Regulation of HSF1-mediated heat shock response
Autodegradation of the E3 ubiquitin ligase COP1
HDR through Homologous Recombination (HRR)
Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)
Resolution of D-loop Structures through Holliday Junction Intermediates
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
TP53 Regulates Transcription of Genes Involved in Cytochrome C Release
Regulation of TP53 Activity through Phosphorylation
Regulation of TP53 Activity through Methylation
p53-Dependent G1/S DNA damage checkpoint
Ubiquitin Mediated Degradation of Phosphorylated Cdc25A
p53-Independent G1/S DNA damage checkpoint
Ion influx/efflux at host-pathogen interface
Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
Formation of ATP by chemiosmotic coupling
Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolism
Activation of ATR in response to replication stress
Defective AVP does not bind AVPR1A,B and causes neurohypophyseal diabetes insipidus (NDI)
Defective AVP does not bind AVPR2 and causes neurohypophyseal diabetes insipidus (NDI)
Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
Class I MHC mediated antigen processing & presentation
Antigen Presentation: Folding, assembly and peptide loading of class I MHC
Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol
BH3-only proteins associate with and inactivate anti-apoptotic BCL-2 members
Activation and oligomerization of BAK protein
Release of apoptotic factors from the mitochondria
Regulation of RUNX2 expression and activity
Activation, translocation and oligomerization of BAX
TP53 Regulates Transcription of Cell Cycle Genes
TP53 Regulates Transcription of Genes Involved in G2 Cell Cycle Arrest
Ubiquitin-dependent degradation of Cyclin D1
Ubiquitin-dependent degradation of Cyclin D
Regulation of RUNX1 Expression and Activity
Formation of the beta-catenin:TCF transactivating complex
The retinoid cycle in cones (daylight vision)
Signaling by cytosolic FGFR1 fusion mutants
MECP2 regulates transcription of neuronal ligands
Activated NTRK2 signals through FRS2 and FRS3
Transport of gamma-carboxylated protein precursors from the endoplasmic reticulum to the Golgi apparatus
Removal of aminoterminal propeptides from gamma-carboxylated proteins
Gamma-carboxylation, transport, and amino-terminal cleavage of proteins
A tetrasaccharide linker sequence is required for GAG synthesis
Defective B4GALT7 causes EDS, progeroid type
Defective CHST14 causes EDS, musculocontractural type
Defective B3GALT6 causes EDSP2 and SEMDJL1
Activation, myristolyation of BID and translocation to mitochondria
RUNX1 regulates transcription of genes involved in BCR signaling
Antigen activates B Cell Receptor (BCR) leading to generation of second messengers
Antigen processing: Ubiquitination & Proteasome degradation
SUMOylation of chromatin organization proteins
Collagen biosynthesis and modifying enzymes
Assembly of collagen fibrils and other multimeric structures
Molecules associated with elastic fibres
Cytosolic sensors of pathogen-associated DNA
RNA Polymerase III Transcription Termination
RNA Polymerase III Abortive And Retractive Initiation
RNA Polymerase III Transcription Initiation
RNA Polymerase III Transcription Initiation From Type 1 Promoter
RNA Polymerase III Transcription Initiation From Type 2 Promoter
RNA Polymerase III Transcription Initiation From Type 3 Promoter
Negative feedback regulation of MAPK pathway
Transport of bile salts and organic acids, metal ions and amine compounds
Defective BTD causes biotidinase deficiency
Transcriptional regulation of white adipocyte differentiation
Diseases associated with the TLR signaling cascade
Inhibition of the proteolytic activity of APC/C required for the onset of anaphase by mitotic spindle checkpoint components
Inactivation of APC/C via direct inhibition of the APC/C complex
APC/C-mediated degradation of cell cycle proteins
Cdc20:Phospho-APC/C mediated degradation of Cyclin A
Regulation of APC/C activators between G1/S and early anaphase
APC/C:Cdc20 mediated degradation of mitotic proteins
Activation of APC/C and APC/C:Cdc20 mediated degradation of mitotic proteins
APC:Cdc20 mediated degradation of cell cycle proteins prior to satisfation of the cell cycle checkpoint
Major pathway of rRNA processing in the nucleolus and cytosol
rRNA processing in the nucleus and cytosol
Presynaptic depolarization and calcium channel opening
CaMK IV-mediated phosphorylation of CREB
Downstream signaling events of B Cell Receptor (BCR)
Inactivation, recovery and regulation of the phototransduction cascade
Transport of inorganic cations/anions and amino acids/oligopeptides
CREB phosphorylation through the activation of CaMKK
Ionotropic activity of kainate receptors
Activation of Ca-permeable Kainate Receptor
Activation of kainate receptors upon glutamate binding
CLEC7A (Dectin-1) induces NFAT activation
Loss of function of MECP2 in Rett syndrome
Loss of phosphorylation of MECP2 at T308
Regulation of MECP2 expression and activity
Assembly of Viral Components at the Budding Site
Stimulation of the cell death response by PAK-2p34
Apoptotic cleavage of cell adhesion  proteins
Caspase activation via Dependence Receptors in the absence of ligand
TLR3-mediated TICAM1-dependent programmed cell death
NF-kB activation through FADD/RIP-1 pathway mediated by caspase-8 and -10
Class C/3 (Metabotropic glutamate/pheromone receptors)
YAP1- and WWTR1 (TAZ)-stimulated gene expression
RUNX1 regulates transcription of genes involved in differentiation of myeloid cells
RUNX2 regulates genes involved in differentiation of myeloid cells
RUNX1 and FOXP3 control the development of regulatory T lymphocytes (Tregs)
RUNX1 regulates estrogen receptor mediated transcription
RUNX1 regulates expression of components of tight junctions
RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function
RUNX1 regulates transcription of genes involved in differentiation of keratinocytes
RUNX1 regulates transcription of genes involved in interleukin signaling
RUNX1 regulates transcription of genes involved in WNT signaling
Binding of TCF/LEF:CTNNB1 to target gene promoters
Regulation of RUNX3 expression and activity
RUNX3 Regulates Immune Response and Cell Migration
RUNX3 regulates BCL2L11 (BIM) transcription
Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants
TGF-beta receptor signaling activates SMADs
Interleukin-3, Interleukin-5 and GM-CSF signaling
Signaling by Ligand-Responsive EGFR Variants in Cancer
InlB-mediated entry of Listeria monocytogenes into host cell
Listeria monocytogenes entry into host cells
Synthesis of Prostaglandins (PG) and Thromboxanes (TX)
Gastrin-CREB signalling pathway via PKC and MAPK
Transcription of E2F targets under negative control by p107 (RBL1) and p130 (RBL2) in complex with HDAC1
Phosphorylation of proteins involved in the G2/M transition by Cyclin A:Cdc2 complexes
TP53 Regulates Transcription of Genes Involved in G1 Cell Cycle Arrest
CDK-mediated phosphorylation and removal of Cdc6
Switching of origins to a post-replicative state
Cyclin A/B1/B2 associated events during G2/M transition
E2F-enabled inhibition of pre-replication complex formation
E2F mediated regulation of DNA replication
Golgi Cisternae Pericentriolar Stack Reorganization
APC/C:Cdc20 mediated degradation of Cyclin B
Regulation of PLK1 Activity at G2/M Transition
Activation of NIMA Kinases NEK9, NEK6, NEK7
Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex
The role of GTSE1 in G2/M progression after G2 checkpoint
NOTCH1 Intracellular Domain Regulates Transcription
Association of TriC/CCT with target proteins during biosynthesis
Phosphorylation of proteins involved in G1/S transition by active Cyclin E:Cdk2 complexes
Formation of RNA Pol II elongation complex
Formation of the Early Elongation Complex
Formation of HIV elongation complex in the absence of HIV Tat
Formation of the HIV-1 Early Elongation Complex
RNA Pol II CTD phosphorylation and interaction with CE during HIV infection
Formation of HIV-1 elongation complex containing HIV-1 Tat
Tat-mediated elongation of the HIV-1 transcript
NoRC negatively regulates rRNA expression
Negative epigenetic regulation of rRNA expression
RNA Polymerase II Pre-transcription Events
Formation of TC-NER Pre-Incision Complex
Transcription-Coupled Nucleotide Excision Repair (TC-NER)
Gap-filling DNA repair synthesis and ligation in TC-NER
RNA Polymerase I Transcription Initiation
RNA Polymerase II Transcription Pre-Initiation And Promoter Opening
RNA Polymerase I Transcription Termination
RNA Polymerase II Transcription Initiation
RNA Polymerase II Transcription Elongation
RNA Polymerase II Transcription Initiation And Promoter Clearance
RNA Pol II CTD phosphorylation and interaction with CE
Pausing and recovery of Tat-mediated HIV elongation
Tat-mediated HIV elongation arrest and recovery
Interactions of Tat with host cellular proteins
RNA polymerase II transcribes snRNA genes
Formation of tubulin folding intermediates by CCT/TriC
Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding
Phosphorylation of CD3 and TCR zeta chains
Translocation of ZAP-70 to Immunological synapse
Generation of second messenger molecules
Transfer of LPS from LBP carrier to CD14
TICAM1,TRAF6-dependent induction of TAK1 complex
Activation of IRF3/IRF7 mediated by TBK1/IKK epsilon
TRAF6-mediated induction of TAK1 complex within TLR4 complex
IRAK2 mediated activation of TAK1 complex upon TLR7/8 or 9 stimulation
Nef mediated downregulation of CD28 cell surface expression
Cross-presentation of particulate exogenous antigens (phagosomes)
Phosphate bond hydrolysis by NTPDase proteins
Signal regulatory protein family interactions
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
Processing of Capped Intron-Containing Pre-mRNA
Transcription of E2F targets under negative control by DREAM complex
CDC6 association with the ORC:origin complex
CDT1 association with the CDC6:ORC:origin complex
Activation of the pre-replicative complex
SCF-beta-TrCP mediated degradation of Emi1
APC/C:Cdc20 mediated degradation of Securin
APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1
Conversion from APC/C:Cdc20 to APC/C:Cdh1 in late anaphase
TP53 regulates transcription of additional cell cycle genes whose exact role in the p53 pathway remain uncertain
Synthesis of active ubiquitin: roles of E1 and E2 enzymes
InlA-mediated entry of Listeria monocytogenes into host cells
Transcriptional activation of p53 responsive genes
Transcriptional  activation of  cell cycle inhibitor p21
TFAP2 (AP-2) family regulates transcription of cell cycle factors
Degradation of cysteine and homocysteine
Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1)
Incretin synthesis, secretion, and inactivation
Deposition of new CENPA-containing nucleosomes at the centromere
TFAP2 (AP-2) family regulates transcription of growth factors and their receptors
N-glycan antennae elongation in the medial/trans-Golgi
Reactions specific to the complex N-glycan synthesis pathway
Interactions of Rev with host cellular proteins
ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression
Synthesis of bile acids and bile salts via 24-hydroxycholesterol
Synthesis of bile acids and bile salts via 27-hydroxycholesterol
Acetylcholine binding and downstream events
Highly calcium permeable postsynaptic nicotinic acetylcholine receptors
Highly calcium permeable nicotinic acetylcholine receptors
Activation of Nicotinic Acetylcholine Receptors
Highly sodium permeable acetylcholine nicotinic receptors
ZBP1(DAI) mediated induction of type I IFNs
IKBKG deficiency causes anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID) (via TLR)
Dectin-1 mediated noncanonical NF-kB signaling
IRAK1 recruits IKK complex upon TLR7/8 or 9 stimulation
Entry of Influenza Virion into Host Cell via Endocytosis
Defective ABCC2 causes Dubin-Johnson syndrome
Activation of the phototransduction cascade
IL-6-type cytokine receptor ligand interactions
Regulation of expression of SLITs and ROBOs
Enzymatic degradation of dopamine by COMT
Enzymatic degradation of Dopamine by monoamine oxidase
Dopamine clearance from the synaptic cleft
Defective CP causes aceruloplasminemia (ACERULOP)
NOTCH2 intracellular domain regulates transcription
MECP2 regulates neuronal receptors and channels
Activation of the AP-1 family of transcription factors
Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells
LRR FLII-interacting protein 1 (LRRFIP1) activates type I IFN production
Activation of anterior HOX genes in hindbrain development during early embryogenesis
Activation of HOX genes during differentiation
Activation of the TFAP2 (AP-2) family of transcription factors
NOTCH3 Intracellular Domain Regulates Transcription
p130Cas linkage to MAPK signaling for integrins
Activation of PPARGC1A (PGC-1alpha) by phosphorylation
ADP signalling through P2Y purinoceptor 1
activated TAK1 mediates p38 MAPK activation
Defective CSF2RB causes pulmonary surfactant metabolism dysfunction 5 (SMDP5)
Defective CSF2RA causes pulmonary surfactant metabolism dysfunction 4 (SMDP4)
GLI3 is processed to GLI3R by the proteasome
Cleavage of Growing Transcript in the Termination Region
RNA Polymerase II Transcription Termination
Processing of Capped Intronless Pre-mRNA
Cobalamin (Cbl, vitamin B12) transport and metabolism
Trafficking and processing of endosomal TLR
Negative regulators of DDX58/IFIH1 signaling
Synthesis of epoxy (EET) and dihydroxyeicosatrienoic acids (DHET)
Synthesis of (16-20)-hydroxyeicosatetraenoic acids (HETE)
Aromatic amines can be N-hydroxylated or N-dealkylated by CYP1A2
Defective CYP11A1 causes Adrenal insufficiency, congenital, with 46,XY sex reversal (AICSR)
Defective CYP11B1 causes Adrenal hyperplasia 4 (AH4)
Defective CYP11B2 causes Corticosterone methyloxidase 1 deficiency (CMO-1 deficiency)
Defective CYP17A1 causes Adrenal hyperplasia 5 (AH5)
Defective CYP19A1 causes Aromatase excess syndrome (AEXS)
Defective CYP21A2 causes Adrenal hyperplasia 3 (AH3)
Defective CYP24A1 causes Hypercalcemia, infantile (HCAI)
Defective CYP27A1 causes Cerebrotendinous xanthomatosis (CTX)
Defective CYP27B1 causes Rickets vitamin D-dependent 1A (VDDR1A)
Diseases associated with O-glycosylation of proteins
Defective POMGNT1 causes MDDGA3, MDDGB3 and MDDGC3
Defective POMT2 causes MDDGA2, MDDGB2 and MDDGC2
Defective POMT1 causes MDDGA1, MDDGB1 and MDDGC1
Role of second messengers in netrin-1 signaling
Regulation of commissural axon pathfinding by SLIT and ROBO
Recognition of DNA damage by PCNA-containing replication complex
SRP-dependent cotranslational protein targeting to membrane
DEx/H-box helicases activate type I IFN and inflammatory cytokines production
Regulation of ornithine decarboxylase (ODC)
rRNA modification in the nucleus and cytosol
Regulation of pyruvate dehydrogenase (PDH) complex
Processive synthesis on the C-strand of the telomere
Telomere C-strand (Lagging Strand) Synthesis
Removal of the Flap Intermediate from the C-strand
Processive synthesis on the lagging strand
tRNA modification in the nucleus and cytosol
Diseases associated with N-glycosylation of proteins
Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
Defective DPAGT1 causes DPAGT1-CDG (CDG-1j) and CMSTA2
Synthesis, secretion, and inactivation of Glucose-dependent Insulinotropic Polypeptide (GIP)
Defective SLC26A3 causes congenital secretory chloride diarrhea 1 (DIAR1)
Cytosolic sulfonation of small molecules
Negative regulation of TCF-dependent signaling by DVL-interacting proteins
Activation of NOXA and translocation to mitochondria
Inhibition of replication initiation of damaged DNA by RB1/E2F1
Activation of PUMA and translocation to mitochondria
EGFR interacts with phospholipase C-gamma
Signaling by Overexpressed Wild-Type EGFR in Cancer
Inhibition of Signaling by Overexpressed EGFR
L13a-mediated translational silencing of Ceruloplasmin expression
Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S
Formation of a pool of free 40S subunits
Formation of the ternary complex, and subsequently, the 43S complex
Ribosomal scanning and start codon recognition
GTP hydrolysis and joining of the 60S ribosomal subunit
Antiviral mechanism by IFN-stimulated genes
Transport of the SLBP independent Mature mRNA
Transport of the SLBP Dependant Mature mRNA
Transport of Mature mRNA Derived from an Intronless Transcript
Transport of Mature mRNAs Derived from Intronless Transcripts
Transport of Mature Transcript to Cytoplasm
AUF1 (hnRNP D0) binds and destabilizes mRNA
Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC)
Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)
Clearance of Nuclear Envelope Membranes from Chromatin
Initiation of Nuclear Envelope Reformation
Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane
Oxygen-dependent asparagine hydroxylation of Hypoxia-inducible Factor Alpha
Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha
Transcriptional regulation of pluripotent stem cells
POU5F1 (OCT4), SOX2, NANOG activate genes related to proliferation
Erythropoietin activates Phospholipase C gamma (PLCG)
Defective EXT1 causes exostoses 1, TRPS2 and CHDS
Extrinsic Pathway of Fibrin Clot Formation
Synthesis of very long-chain fatty acyl-CoAs
Role of LAT2/NTAL/LAB on calcium mobilization
Cross-presentation of soluble exogenous antigens (endosomes)
Ficolins bind to repetitive carbohydrate structures on the target cell surface
Electron transport from NADPH to Ferredoxin
SEMA3A-Plexin repulsion signaling by inhibiting Integrin adhesion
GRB2:SOS provides linkage to MAPK signaling for Integrins
Signaling by activated point mutants of FGFR1
Signaling by activated point mutants of FGFR3
Signaling by FGFR3 point mutants in cancer
Regulation of gene expression in early pancreatic precursor cells
Signaling by FGFR1 amplification mutants
FGFR1c and Klotho ligand binding and activation
Signaling by plasma membrane FGFR1 fusions
Release of Hh-Np from the secreting cell
Signaling by FGFR2 amplification mutants
VEGF binds to VEGFR leading to receptor dimerization
Signaling by TGF-beta Receptor Complex in Cancer
Neurophilin interactions with VEGF and VEGFR
Defective FMO3 causes Trimethylaminuria (TMAU)
Energy dependent regulation of mTOR by LKB1-AMPK
Glycogen storage disease type Ib (SLC37A4)
STING mediated induction of host immune responses
Activation of G protein gated Potassium channels
Inhibition  of voltage gated Ca2+ channels via Gbeta/gamma subunits
MECP2 regulates transcription of genes involved in GABA signaling
Diseases associated with glycosylation precursor biosynthesis
Defective GALE can cause Epimerase-deficiency galactosemia (EDG)
Defective GALK1 can cause Galactosemia II (GALCT2)
Defective GALNT3 causes familial hyperphosphatemic tumoral calcinosis (HFTC)
Regulation of Glucokinase by Glucokinase Regulatory Protein
Defective GCK causes maturity-onset diabetes of the young 2 (MODY2)
Defective TPR may confer susceptibility towards thyroid papillary carcinoma (TPC)
Synthesis of substrates in N-glycan biosythesis
Defective GGT1 causes Glutathionuria (GLUTH)
Defective GIF causes intrinsic factor deficiency
Defective AMN causes hereditary megaloblastic anemia 1
Defective CUBN causes hereditary megaloblastic anemia 1
Oligomerization of connexins into connexons
Transport of connexins along the secretory pathway
Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane
Transport of connexons to the plasma membrane
c-src mediated regulation of Cx43 function and closure of gap junctions
Defective GCLC causes Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency (HAGGSD)
Transport of Mature mRNA derived from an Intron-Containing Transcript
GLI proteins bind promoters of Hh responsive genes to promote transcription
Neurotransmitter uptake and metabolism In glial cells
Astrocytic Glutamate-Glutamine Uptake And Metabolism
Free fatty acids regulate insulin secretion
Thromboxane signalling through TP receptor
Fatty Acids bound to GPR40 (FFAR1) regulate insulin secretion
ADP signalling through P2Y purinoceptor 12
Prostacyclin signalling through prostacyclin receptor
G beta:gamma signalling through PLC beta
Presynaptic function of Kainate receptors
Loss of MECP2 binding ability to the NCoR/SMRT complex
Activation of Na-permeable kainate receptors
Influenza Viral RNA Transcription and Replication
Metabolism of ingested H2SeO4 and H2SeO3 into H2Se
Defective GSS causes Glutathione synthetase deficiency (GSS deficiency)
Biosynthesis of DHA-derived sulfido conjugates
Biosynthesis of maresin conjugates in tissue regeneration (MCTR)
Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha)
Defective Mismatch Repair Associated With MSH2
Defective Mismatch Repair Associated With MSH6
Abortive elongation of HIV-1 transcript in the absence of Tat
Nitric oxide stimulates guanylate cyclase
Glycogen storage disease type 0 (muscle GYS1)
Glycogen storage disease type 0 (liver GYS2)
Formation of Senescence-Associated Heterochromatin Foci (SAHF)
SIRT1 negatively regulates rRNA expression
Transcriptional regulation by small RNAs
E3 ubiquitin ligases ubiquitinate target proteins
Orexin and neuropeptides FF and QRFP bind to their respective receptors
p75NTR negatively regulates cell cycle via SC1
Loss of MECP2 binding ability to 5mC-DNA
Defective HK1 causes hexokinase deficiency (HK deficiency)
Integration of viral DNA into host genomic DNA
Autointegration results in viral DNA circles
APOBEC3G mediated resistance to HIV-1 infection
RAS signaling downstream of NF1 loss-of-function variants
Export of Viral Ribonucleoproteins from Nucleus
Viral RNP Complexes in the Host Cell Nucleus
TFAP2A acts as a transcriptional repressor during retinoic acid induced cell differentiation
Abnormal conversion of 2-oxoglutarate to 2-hydroxyglutarate
HHAT G278V abrogates palmitoylation of Hh-Np
Localization of the PINCH-ILK-PARVIN complex to focal adhesions
Synthesis of IP2, IP, and Ins in the cytosol
Synthesis of PIPs at the early endosome membrane
Regulation of gene expression in endocrine-committed (NEUROG3+) progenitor cells
JNK (c-Jun kinases) phosphorylation and  activation mediated by activated human TAK1
TRAF6 mediated IRF7 activation in TLR7/8 or 9 signaling
IRAK2 mediated activation of TAK1 complex
Regulation of innate immune responses to cytosolic DNA
Synthesis of pyrophosphates in the cytosol
Phase 1 - inactivation of fast Na+ channels
Defective ABCC8 can cause hypoglycemias and hyperglycemias
Tandem of pore domain in a weak inwardly rectifying K+ channels (TWIK)
TWIK-releated acid-sensitive K+ channel (TASK)
Transport of Ribonucleoproteins into the Host Nucleus
Tristetraprolin (TTP, ZFP36) binds and destabilizes mRNA
Metal sequestration by antimicrobial proteins
Mismatch repair (MMR) directed by MSH2:MSH3 (MutSbeta)
Gap-filling DNA repair synthesis and ligation in GG-NER
APEX1-Independent Resolution of AP Sites via the Single Nucleotide Replacement Pathway
Negative regulation of TCF-dependent signaling by WNT ligand antagonists
RNF mutants show enhanced WNT signaling and proliferation
Misspliced LRP5 mutants have enhanced beta-catenin-dependent signaling
Biosynthesis of protectin and resolvin conjugates in tissue regeneration (PCTR and RCTR)
Latent infection of Homo sapiens with Mycobacterium tuberculosis
Downregulation of TGF-beta receptor signaling
SMAD2/3 Phosphorylation Motif Mutants in Cancer
N-glycan trimming and elongation in the cis-Golgi
Progressive trimming of alpha-1,2-linked mannose residues from Man9/8/7GlcNAc2 to produce Man5GlcNAc2
Biogenic amines are oxidatively deaminated to aldehydes by MAOA and MAOB
Defective MAOA causes Brunner syndrome (BRUNS)
Defective MAT1A causes Methionine adenosyltransferase deficiency (MATD)
Defective ACTH causes Obesity and Pro-opiomelanocortinin deficiency (POMCD)
Defective MGAT2 causes MGAT2-CDG (CDG-2a)
Reactions specific to the hybrid N-glycan synthesis pathway
Defective Mismatch Repair Associated With MLH1
Defective Mismatch Repair Associated With PMS2
Competing endogenous RNAs (ceRNAs) regulate PTEN translation
Recognition and association of DNA glycosylase with site containing an affected purine
Defective Mismatch Repair Associated With MSH3
Phosphate bond hydrolysis by NUDT proteins
Synthesis of PIPs at the late endosome membrane
Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE
Defective MTR causes methylmalonic aciduria and homocystinuria type cblG
Defective C1GALT1C1 causes Tn polyagglutination syndrome (TNPS)
Defective GALNT12 causes colorectal cancer 1 (CRCS1)
Defective MMAA causes methylmalonic aciduria type cblA
Defective MUT causes methylmalonic aciduria mut type
Defective Base Excision Repair Associated with MUTYH
SLBP independent Processing of Histone Pre-mRNAs
SLBP Dependent Processing of Replication-Dependent Histone Pre-mRNAs
NRIF signals cell death from the nucleus
Expression and Processing of Neurotrophins
Pre-NOTCH Processing in the Endoplasmic Reticulum
Loss of Function of FBXW7 in Cancer and NOTCH1 Signaling
Defective SLC11A2 causes hypochromic microcytic anemia, with iron overload 1 (AHMIO1)
Recognition and association of DNA glycosylase with site containing an affected pyrimidine
NEP/NS2 Interacts with the Cellular Export Machinery
Assembly of the ORC complex at the origin of replication
Defective SLC22A18 causes lung cancer (LNCR) and embryonal rhabdomyosarcoma 1 (RMSE1)
Regulation of PAK-2p34 activity by PS-GAP/RHG10
Regulation of activated PAK-2p34 by proteasome mediated degradation
Translesion synthesis by Y family DNA polymerases bypasses lesions on DNA template
Polymerase switching on the C-strand of the telomere
Termination of translesion DNA synthesis
ARL13B-mediated ciliary trafficking of INPP5E
Defective SLC26A4 causes Pendred syndrome (PDS)
Defective B3GALTL causes Peters-plus syndrome (PpS)
O-glycosylation of TSR domain-containing proteins
PKA-mediated phosphorylation of key metabolic factors
PP2A-mediated dephosphorylation of key metabolic factors
Defective ABCB4 causes progressive familial intrahepatic cholestasis 3, intrahepatic cholestasis of pregnancy 3 and gallbladder disease 1
TFAP2 (AP-2) family regulates transcription of other transcription factors
POU5F1 (OCT4), SOX2, NANOG repress genes related to differentiation
AMPK inhibits chREBP transcriptional activation activity
Activation of BIM and translocation to mitochondria
Activation of BMF and translocation to mitochondria
Hh mutants that don't undergo autocatalytic processing are degraded by ERAD
FBXL7 down-regulates AURKA during mitotic entry and in early mitosis
PTK6 Regulates Proteins Involved in RNA Processing
Defective ABCD4 causes methylmalonic aciduria and homocystinuria, cblj type (MAHCJ)
Establishment of Sister Chromatid Cohesion
Rhesus glycoproteins mediate ammonium transport.
Defective RHAG causes regulator type Rh-null hemolytic anemia (RHN)
Regulation of cortical dendrite branching
Membrane binding and targetting of GAG proteins
Synthesis And Processing Of GAG, GAGPOL Polyproteins
Endosomal Sorting Complex Required For Transport (ESCRT)
Defective pro-SFTPB causes pulmonary surfactant metabolism dysfunction 1 (SMDP1) and respiratory distress syndrome (RDS)
Defective pro-SFTPC causes pulmonary surfactant metabolism dysfunction 2 (SMDP2) and respiratory distress syndrome (RDS)
Defective SFTPA2 causes idiopathic pulmonary fibrosis (IPF)
Defective SLC1A1 is implicated in schizophrenia 18 (SCZD18) and dicarboxylic aminoaciduria (DCBXA)
Defective SLC1A3 causes episodic ataxia 6 (EA6)
Amino acid transport across the plasma membrane
Defective SLC2A1 causes GLUT1 deficiency syndrome 1 (GLUT1DS1)
Defective SLC2A2 causes Fanconi-Bickel syndrome (FBS)
Defective SLC3A1 causes cystinuria (CSNU)
Defective SLC4A1 causes hereditary spherocytosis type 4 (HSP4),  distal renal tubular acidosis (dRTA) and dRTA with hemolytic anemia (dRTA-HA)
Defective SLC5A1 causes congenital glucose/galactose malabsorption (GGM)
Defective SLC5A2 causes renal glucosuria (GLYS1)
Defective SLC5A5 causes thyroid dyshormonogenesis 1 (TDH1)
Defective SLC6A2 causes orthostatic intolerance (OI)
Defective SLC6A3 causes Parkinsonism-dystonia infantile (PKDYS)
Defective SLC12A1 causes Bartter syndrome 1 (BS1)
Defective SLC12A3 causes Gitelman syndrome (GS)
Sodium-coupled sulphate, di- and tri-carboxylate transporters
Defective SLC16A1 causes symptomatic deficiency in lactate transport (SDLT)
Defective SLC34A1 causes hypophosphatemic nephrolithiasis/osteoporosis 1 (NPHLOP1)
Defective SLC20A2 causes idiopathic basal ganglia calcification 1 (IBGC1)
Defective SLCO2A1 causes primary, autosomal recessive hypertrophic osteoarthropathy 2 (PHOAR2)
Defective SLC22A5 causes systemic primary carnitine deficiency (CDSP)
SUMO is transferred from E1 to E2 (UBE2I, UBC9)
Toxicity of botulinum toxin type A (BoNT/A)
Toxicity of botulinum toxin type C (BoNT/C)
Toxicity of botulinum toxin type E (BoNT/E)
Toxicity of botulinum toxin type D (BoNT/D)
Toxicity of botulinum toxin type F (BoNT/F)
Toxicity of botulinum toxin type G (BoNT/G)
Toxicity of botulinum toxin type B (BoNT/B)
Insulin effects increased synthesis of Xylulose-5-Phosphate
TALDO1 deficiency: failed conversion of SH7P, GA3P to Fru(6)P, E4P
TALDO1 deficiency: failed conversion of  Fru(6)P, E4P to SH7P, GA3P
Small interfering RNA (siRNA) biogenesis
Defective TBXAS1 causes Ghosal hematodiaphyseal dysplasia (GHDD)
Defective TCN2 causes hereditary megaloblastic anemia
Defective CD320 causes methylmalonic aciduria
Negative regulation of activity of TFAP2 (AP-2) family transcription factors
Defective TPMT causes Thiopurine S-methyltransferase deficiency (TPMT deficiency)
Carboxyterminal post-translational modifications of tubulin
Metabolism of ingested MeSeO2H into MeSeH
Defective SLC35A2 causes congenital disorder of glycosylation 2M (CDG2M)
Formation of the active cofactor, UDP-glucuronate
Zinc efflux and compartmentalization by the SLC30 family
Zinc influx into cells by the SLC39 gene family
Inhibition of Host mRNA Processing and RNA Silencing
Defective ABCB11 causes progressive familial intrahepatic cholestasis 2 and benign recurrent intrahepatic cholestasis 2
XAV939 inhibits tankyrase, stabilizing AXIN
Defective SLC4A4 causes renal tubular acidosis, proximal, with ocular abnormalities and mental retardation (pRTA-OA)
NR1D1 (REV-ERBA) represses gene expression
Defective SLC7A7 causes lysinuric protein intolerance (LPI)
Defective SLC6A5 causes hyperekplexia 3 (HKPX3)
Defective SLC24A1 causes congenital stationary night blindness 1D (CSNB1D)
Defective SLC33A1 causes spastic paraplegia 42 (SPG42)
Defective LARGE causes MDDGA6 and MDDGB6
Defective CYP7B1 causes Spastic paraplegia 5A, autosomal recessive (SPG5A) and Congenital bile acid synthesis defect 3 (CBAS3)
Defective MPDU1 causes MPDU1-CDG (CDG-1f)
Synthesis of wybutosine at G37 of tRNA(Phe)
Defective SLC12A6 causes agenesis of the corpus callosum, with peripheral neuropathy (ACCPN)
Defective GNE causes sialuria, Nonaka myopathy and inclusion body myopathy 2
Electric Transmission Across Gap Junctions
Defective ABCB6 causes isolated colobomatous microphthalmia 7 (MCOPCB7)
Defective ABCC9 causes dilated cardiomyopathy 10, familial atrial fibrillation 12 and hypertrichotic osteochondrodysplasia
Defective SLC9A6 causes  X-linked, syndromic mental retardation,, Christianson type (MRXSCH)
Defective SLC35A1 causes congenital disorder of glycosylation 2F (CDG2F)
Defective SLC34A2 causes pulmonary alveolar microlithiasis (PALM)
Insulin-like Growth Factor-2 mRNA Binding Proteins (IGF2BPs/IMPs/VICKZs) bind RNA
ALKBH3 mediated reversal of alkylation damage
Reversal of alkylation damage by DNA dioxygenases
Defective SLC27A4 causes ichthyosis prematurity syndrome (IPS)
Defective SLC7A9 causes cystinuria (CSNU)
Variant SLC6A14 may confer susceptibility towards obesity
RPIA deficiency: failed conversion of R5P to RU5P
RPIA deficiency: failed conversion of RU5P to R5P
Post-transcriptional silencing by small RNAs
Defective SLC35D1 causes Schneckenbecken dysplasia (SCHBCKD)
Defective SLC35A3 causes arthrogryposis, mental retardation, and seizures (AMRS)
PI and PC transport between ER and Golgi membranes
Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD
Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC
Defective ABCA12 causes autosomal recessive congenital ichthyosis type 4B
Defective SLC17A5 causes Salla disease (SD) and ISSD
Defective OPLAH causes 5-oxoprolinase deficiency (OPLAHD)
Defective SLC40A1 causes hemochromatosis 4 (HFE4) (macrophages)
Defective SLC40A1 causes hemochromatosis 4 (HFE4) (duodenum)
Variant SLC6A20 contributes towards hyperglycinuria (HG) and iminoglycinuria (IG)
Defective SLC29A3 causes histiocytosis-lymphadenopathy plus syndrome (HLAS)
Defective SLC35C1 causes congenital disorder of glycosylation 2C (CDG2C)
Defective SLC39A4 causes acrodermatitis enteropathica, zinc-deficiency type (AEZ)
Defective LMBRD1 causes methylmalonic aciduria and homocystinuria type cblF
Defective CYP26B1 causes Radiohumeral fusions with other skeletal and craniofacial anomalies (RHFCA)
Defective SLC2A9 causes hypouricemia renal 2 (RHUC2)
Tandem pore domain halothane-inhibited K+ channel (THIK)
Defective SLC5A7 causes distal hereditary motor neuronopathy 7A (HMN7A)
Defective ABCG8 causes gallbladder disease 4 and sitosterolemia
WNT ligand secretion is abrogated by the PORCN inhibitor LGK974
Defective ALG12 causes ALG12-CDG (CDG-1g)
Defective SRD5A3 causes SRD5A3-CDG (CDG-1q) and KHRZ
Defective ALG14 causes congenital myasthenic syndrome (ALG14-CMS)
Interconversion of 2-oxoglutarate and 2-hydroxyglutarate
Defective DHDDS causes retinitis pigmentosa 59
Defective SLC2A10 causes arterial tortuosity syndrome (ATS)
TWIK-related alkaline pH activated K+ channel (TALK)
Severe congenital neutropenia type 4 (G6PC3)
Defective CYP2U1 causes Spastic paraplegia 56, autosomal recessive (SPG56)
Defective SLC22A12 causes renal hypouricemia 1 (RHUC1)
Conjugation of phenylacetate with glutamine
Defective CYP2R1 causes Rickets vitamin D-dependent 1B (VDDR1B)
ALKBH2 mediated reversal of alkylation damage
Defective SLC24A4 causes hypomineralized amelogenesis imperfecta (AI)
Defective CYP4F22 causes Ichthyosis, congenital, autosomal recessive 5 (ARCI5)
Defective SLC34A3 causes Hereditary hypophosphatemic rickets with hypercalciuria (HHRH)
Proton-coupled neutral amino acid transporters
Defective SLC36A2 causes iminoglycinuria (IG) and hyperglycinuria (HG)
Biosynthesis of A2E, implicated in retinal degradation
Defective SLC17A8 causes autosomal dominant deafness 25 (DFNA25)
Defective SLC24A5 causes oculocutaneous albinism 6 (OCA6)
Defective SLC9A9 causes autism 16 (AUTS16)
Defective MMAB causes methylmalonic aciduria type cblB
TWIK-related spinal cord K+ channel (TRESK)
Defective SLC6A19 causes Hartnup disorder (HND)
Defective CYP26C1 causes Focal facial dermal dysplasia 4 (FFDD4)
Defective SLC6A18 may confer susceptibility to iminoglycinuria and/or hyperglycinuria
Defective ALG11 causes ALG11-CDG (CDG-1p)