9914274 3-methylglutaconic aciduria true 9022538 Loss of MECP2 binding ability to 5mC-DNA true 2206291 MPS IIIC - Sanfilippo syndrome C true 9607240 FLT3 Signaling false 983705 Signaling by the B Cell Receptor (BCR) false 3878781 Glycogen storage disease type IV (GBE1) true 9672397 Defective F8 secretion true 3595177 Defective CHSY1 causes TPBS true 75072 mRNA Editing false 9669935 Signaling by juxtamembrane domain KIT mutants true 167060 NGF processing false 5579032 Defective TBXAS1 causes GHDD true 9672393 Defective F8 binding to von Willebrand factor true 5688354 Defective pro-SFTPC causes SMDP2 and RDS true 5632928 Defective Mismatch Repair Associated With MSH2 true 9665249 Resistance of ERBB2 KD mutants to afatinib true 8939211 ESR-mediated signaling false 6807505 RNA polymerase II transcribes snRNA genes false 5619109 Defective SLC6A2 causes orthostatic intolerance (OI) true 9669929 Regorafenib-resistant KIT mutants true 5357609 Glycogen storage disease type II (GAA) true 3359471 Defective MMAB causes MMA, cblB type true 174824 Plasma lipoprotein assembly, remodeling, and clearance false 5579014 Defective CYP27B1 causes VDDR1A true 8963693 Aspartate and asparagine metabolism false 9818026 NFE2L2 regulating inflammation associated genes false 5467345 Deletions in the AXIN1 gene destabilize the destruction complex true 194138 Signaling by VEGF false 5609974 Defective PGM1 causes PGM1-CDG true 4793954 Defective MOGS causes CDG-2b true 9680350 Signaling by CSF1 (M-CSF) in myeloid cells false 5619036 Defective SLC24A5 causes oculocutaneous albinism 6 (OCA6) true 9707564 Cytoprotection by HMOX1 false 9831926 Nephron development false 4839726 Chromatin organization false 6802948 Signaling by high-kinase activity BRAF mutants true 9673240 Defective gamma-carboxylation of F9 true 6802955 Paradoxical activation of RAF signaling by kinase inactive BRAF true 5687583 Defective SLC34A2 causes PALM true 983169 Class I MHC mediated antigen processing & presentation false 5619037 Defective SLC35A1 causes congenital disorder of glycosylation 2F (CDG2F) true 5083636 Defective GALNT12 causes CRCS1 true 8877330 RUNX1 and FOXP3 control the development of regulatory T lymphocytes (Tregs) false 3371556 Cellular response to heat stress false 3232142 SUMOylation of ubiquitinylation proteins false 9609736 Assembly and cell surface presentation of NMDA receptors false 9629232 Defective Base Excision Repair Associated with NEIL3 true 195253 Degradation of beta-catenin by the destruction complex false 8856825 Cargo recognition for clathrin-mediated endocytosis false 1502540 Signaling by Activin false 9834899 Specification of the neural plate border false 9717323 ceritinib-resistant ALK mutants true 9665348 Signaling by ERBB2 ECD mutants true 9669933 Signaling by kinase domain mutants of KIT true 3108214 SUMOylation of DNA damage response and repair proteins false 9757110 Prednisone ADME false 2142753 Arachidonate metabolism false 8942233 Intestinal infectious diseases true 5173105 O-linked glycosylation false 112313 Neurotransmitter uptake and metabolism In glial cells false 5579007 Defective ACY1 causes encephalopathy true 5083632 Defective C1GALT1C1 causes TNPS true 9673767 Signaling by PDGFRA transmembrane, juxtamembrane and kinase domain mutants true 5358508 Mismatch Repair false 888590 GABA synthesis, release, reuptake and degradation false 1980145 Signaling by NOTCH2 false 5669034 TNFs bind their physiological receptors false 373752 Netrin-1 signaling false 3359485 Defective CD320 causes MMATC true 1489509 DAG and IP3 signaling false 9018683 Biosynthesis of DPA-derived SPMs false 9918454 Defective visual phototransduction due to ABCA4 loss of function true 9706377 FLT3 signaling by CBL mutants true 9823730 Formation of definitive endoderm false 9918442 Defective visual phototransduction due to LRAT loss of function true 1187000 Fertilization false 3656234 Defective HEXA causes GM2G1 true 3229133 Glycogen storage disease type Ib (SLC37A4) true 1475029 Reversible hydration of carbon dioxide false 1368071 NR1D1 (REV-ERBA) represses gene expression false 6794361 Neurexins and neuroligins false 9657688 Defective factor XII causes hereditary angioedema true 9680187 Signaling by extracellular domain mutants of KIT true 5579026 Defective CYP11A1 causes AICSR true 983712 Ion channel transport false 429914 Deadenylation-dependent mRNA decay false 9617828 FOXO-mediated transcription of cell cycle genes false 4755609 Defective DHDDS causes RP59 true 432030 Transport of glycerol from adipocytes to the liver by Aquaporins false 4720489 Defective ALG12 causes CDG-1g true 6809583 Retinoid metabolism disease events true 5619063 Defective SLC29A3 causes histiocytosis-lymphadenopathy plus syndrome (HLAS) true 4615885 SUMOylation of DNA replication proteins false 9608290 Defective MUTYH substrate processing true 9754706 Atorvastatin ADME false 917729 Endosomal Sorting Complex Required For Transport (ESCRT) false 3359463 Defective CUBN causes MGA1 true 1592230 Mitochondrial biogenesis false 447115 Interleukin-12 family signaling false 76009 Platelet Aggregation (Plug Formation) false 5673001 RAF/MAP kinase cascade false 8986944 Transcriptional Regulation by MECP2 false 9661070 Defective translocation of RB1 mutants to the nucleus true 5619089 Defective SLC6A5 causes hyperekplexia 3 (HKPX3) true 5659898 Intestinal saccharidase deficiencies true 9845622 Defective VWF binding to collagen type I true 512988 Interleukin-3, Interleukin-5 and GM-CSF signaling false 5205647 Mitophagy false 8983432 Interleukin-15 signaling false 68875 Mitotic Prophase false 5662702 Melanin biosynthesis false 5336415 Uptake and function of diphtheria toxin true 451326 Activation of kainate receptors upon glutamate binding false 9702600 midostaurin-resistant FLT3 mutants true 1442490 Collagen degradation false 8876198 RAB GEFs exchange GTP for GDP on RABs false 448706 Interleukin-1 processing false 212436 Generic Transcription Pathway false 9734735 Defective ADA disrupts (deoxy)adenosine deamination true 9856530 High laminar flow shear stress activates signaling by PIEZO1 and PECAM1:CDH5:KDR in endothelial cells false 9726842 Gain-of-function MRAS complexes activate RAF signaling true 9845621 Defective VWF cleavage by ADAMTS13 variant true 200425 Carnitine shuttle false 9630791 Evasion of Oncogene Induced Senescence Due to Defective p16INK4A binding to CDK4 true 5619058 Defective SLCO1B3 causes hyperbilirubinemia, Rotor type (HBLRR) true 109606 Intrinsic Pathway for Apoptosis false 186712 Regulation of beta-cell development false 5619053 Defective SLC22A5 causes systemic primary carnitine deficiency (CDSP) true 5684045 Defective ABCD1 causes ALD true 390522 Striated Muscle Contraction false 5619081 Defective SLC6A3 causes Parkinsonism-dystonia infantile (PKDYS) true 70326 Glucose metabolism false 4341670 Defective NEU1 causes sialidosis true 390918 Peroxisomal lipid metabolism false 3656535 TGFBR1 LBD Mutants in Cancer true 5579000 Defective CYP1B1 causes Glaucoma true 8849175 Threonine catabolism false 3560783 Defective B4GALT7 causes EDS, progeroid type true 5619061 Defective SLC33A1 causes spastic paraplegia 42 (SPG42) true 3238698 WNT ligand biogenesis and trafficking false 70268 Pyruvate metabolism false 6791312 TP53 Regulates Transcription of Cell Cycle Genes false 9823739 Formation of the anterior neural plate false 5660862 Defective SLC7A7 causes lysinuric protein intolerance (LPI) true 5678420 Defective ABCC9 causes CMD10, ATFB12 and Cantu syndrome true 9035968 Defective GGT1 in aflatoxin detoxification causes GLUTH true 9673202 Defective F9 variant does not activate FX true 5610787 Hedgehog 'off' state false 71240 Tryptophan catabolism false 70635 Urea cycle false 5083627 Defective LARGE causes MDDGA6 and MDDGB6 true 111885 Opioid Signalling false 9846298 Defective binding of VWF variant to GPIb:IX:V true 8876725 Protein methylation false 186797 Signaling by PDGF false 5619101 Variant SLC6A20 contributes towards hyperglycinuria (HG) and iminoglycinuria (IG) true 1655829 Regulation of cholesterol biosynthesis by SREBP (SREBF) false 5358747 CTNNB1 S33 mutants aren't phosphorylated true 9717301 NVP-TAE684-resistant ALK mutants true 9710421 Defective pyroptosis true 5619040 Defective SLC34A1 causes hypophosphatemic nephrolithiasis/osteoporosis 1 (NPHLOP1) true 9608287 Defective MUTYH substrate binding true 4043911 Defective PMM2 causes PMM2-CDG true 71288 Creatine metabolism false 450531 Regulation of mRNA stability by proteins that bind AU-rich elements false 5619052 Defective SLC9A9 causes autism 16 (AUTS16) true 9613354 Lipophagy false 9639288 Amino acids regulate mTORC1 false 168928 DDX58/IFIH1-mediated induction of interferon-alpha/beta false 9752946 Expression and translocation of olfactory receptors false 5654736 Signaling by FGFR1 false 68877 Mitotic Prometaphase false 400253 Circadian Clock false 380972 Energy dependent regulation of mTOR by LKB1-AMPK false 5339717 Signaling by LRP5 mutants true 2586552 Signaling by Leptin false 3359467 Defective MTRR causes HMAE true 392517 Rap1 signalling false 109704 PI3K Cascade false 3359462 Defective AMN causes MGA1 true 8876384 Listeria monocytogenes entry into host cells true 2644602 Signaling by NOTCH1 PEST Domain Mutants in Cancer true 2206282 MPS IIIB - Sanfilippo syndrome B true 4719360 Defective DPM3 causes DPM3-CDG true 5579015 Defective CYP26B1 causes RHFCA true 5663220 RHO GTPases Activate Formins false 399721 Glutamate binding, activation of AMPA receptors and synaptic plasticity false 168898 Toll-like Receptor Cascades false 8956319 Nucleotide catabolism false 4720475 Defective ALG3 causes CDG-1d true 9715370 Miro GTPase Cycle false 499943 Interconversion of nucleotide di- and triphosphates false 9918449 Defective visual phototransduction due to STRA6 loss of function true 2206296 MPS II - Hunter syndrome true 4720454 Defective ALG9 causes CDG-1l true 5619108 Defective SLC27A4 causes ichthyosis prematurity syndrome (IPS) true 9705683 SARS-CoV-2-host interactions true 69239 Synthesis of DNA false 191273 Cholesterol biosynthesis false 5676590 NIK-->noncanonical NF-kB signaling false 8849932 Synaptic adhesion-like molecules false 418889 Caspase activation via Dependence Receptors in the absence of ligand false 2219530 Constitutive Signaling by Aberrant PI3K in Cancer true 8948216 Collagen chain trimerization false 5653890 Lactose synthesis false 5663020 Defective SLC35A1 causes congenital disorder of glycosylation 2F (CDG2F) true 456926 Thrombin signalling through proteinase activated receptors (PARs) false 418346 Platelet homeostasis false 5619050 Defective SLC4A1 causes hereditary spherocytosis type 4 (HSP4), distal renal tubular acidosis (dRTA) and dRTA with hemolytic anemia (dRTA-HA) true 2555396 Mitotic Metaphase and Anaphase false 9022534 Loss of MECP2 binding ability to 5hmC-DNA true 425397 Transport of vitamins, nucleosides, and related molecules false 4724289 Defective ALG6 causes CDG-1c true 428359 Insulin-like Growth Factor-2 mRNA Binding Proteins (IGF2BPs/IMPs/VICKZs) bind RNA false 5637815 Signaling by Ligand-Responsive EGFR Variants in Cancer true 9821002 Chromatin modifications during the maternal to zygotic transition (MZT) false 8964540 Alanine metabolism false 5637812 Signaling by EGFRvIII in Cancer true 8853659 RET signaling false 9907900 Proteasome assembly false 5655291 Signaling by FGFR4 in disease true 5617472 Activation of anterior HOX genes in hindbrain development during early embryogenesis false 5661231 Metallothioneins bind metals false 9033241 Peroxisomal protein import false 5603041 IRAK4 deficiency (TLR2/4) true 9818035 NFE2L2 regulating ER-stress associated genes false 5688849 Defective CSF2RB causes SMDP5 true 9704331 Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA1 binding function true 74158 RNA Polymerase III Transcription false 70895 Branched-chain amino acid catabolism false 5609978 Defective GALT can cause GALCT true 8878171 Transcriptional regulation by RUNX1 false 9657050 Defective OGG1 Localization true 351202 Metabolism of polyamines false 5619043 Defective SLC2A1 causes GLUT1 deficiency syndrome 1 (GLUT1DS1) true 449836 Other interleukin signaling false 391251 Protein folding false 6807070 PTEN Regulation false 4549356 Defective DPAGT1 causes CDG-1j, CMSTA2 true 8853884 Transcriptional Regulation by VENTX false 9012999 RHO GTPase cycle false 9673766 Signaling by cytosolic PDGFRA and PDGFRB fusion proteins true 5683177 Defective ABCC8 can cause hypo- and hyper-glycemias true 3828062 Glycogen storage disease type 0 (muscle GYS1) true 2028269 Signaling by Hippo false 5687868 Defective SFTPA2 causes IPF true 5660686 Variant SLC6A20 contributes towards hyperglycinuria (HG) and iminoglycinuria (IG) true 75205 Dissolution of Fibrin Clot false 9669914 Dasatinib-resistant KIT mutants true 196757 Metabolism of folate and pterines false 9918443 Defective visual phototransduction due to OPN1SW loss of function true 4549349 Defective ALG2 causes CDG-1i true 5603037 IRAK4 deficiency (TLR5) true 5619096 Defective SLC5A5 causes thyroid dyshormonogenesis 1 (TDH1) true 69620 Cell Cycle Checkpoints false 9670615 Defective Inhibition of DNA Recombination at Telomere Due to ATRX Mutations true 9036092 Defective AVP does not bind AVPR2 and causes neurohypophyseal diabetes insipidus (NDI) true 9672383 Defective factor IX causes thrombophilia true 162909 Host Interactions of HIV factors true 5358749 CTNNB1 S37 mutants aren't phosphorylated true 73893 DNA Damage Bypass false 9717329 lorlatinib-resistant ALK mutants true 877300 Interferon gamma signaling false 430116 GP1b-IX-V activation signalling false 5660883 Defective SLC7A9 causes cystinuria (CSNU) true 5632987 Defective Mismatch Repair Associated With PMS2 true 9664873 Pexophagy false 9702636 tandutinib-resistant FLT3 mutants true 3215018 Processing and activation of SUMO false 5578997 Defective AHCY causes HMAHCHD true 5668599 RHO GTPases Activate NADPH Oxidases false 9027604 Biosynthesis of electrophilic ω-3 PUFA oxo-derivatives false 774815 Nucleosome assembly false 3656532 TGFBR1 KD Mutants in Cancer true 9006335 Signaling by Erythropoietin false 9632697 Evasion of Oxidative Stress Induced Senescence Due to Defective p16INK4A binding to CDK4 true 9833110 RSV-host interactions true 418597 G alpha (z) signalling events false 975634 Retinoid metabolism and transport false 2029480 Fcgamma receptor (FCGR) dependent phagocytosis false 9663199 Defective DNA double strand break response due to BRCA1 loss of function true 5690338 Defective ABCC6 causes PXE true 1834949 Cytosolic sensors of pathogen-associated DNA false 975155 MyD88 dependent cascade initiated on endosome false 177929 Signaling by EGFR false 9665245 Resistance of ERBB2 KD mutants to tesevatinib true 5619087 Defective SLC12A3 causes Gitelman syndrome (GS) true 9703009 tamatinib-resistant FLT3 mutants true 6805567 Keratinization false 453274 Mitotic G2-G2/M phases false 4724325 Defective ALG8 causes CDG-1h true 9609646 HCMV Infection true 162587 HIV Life Cycle true 8949613 Cristae formation false 140534 Caspase activation via Death Receptors in the presence of ligand false 1630316 Glycosaminoglycan metabolism false 5619099 Defective AVP does not bind AVPR1A,B and causes neurohypophyseal diabetes insipidus (NDI) true 70370 Galactose catabolism false 9669934 Sunitinib-resistant KIT mutants true 2644605 FBXW7 Mutants and NOTCH1 in Cancer true 9753512 Signaling by RAS GTPase mutants true 4085377 SUMOylation of SUMOylation proteins false 1266695 Interleukin-7 signaling false 391160 Signal regulatory protein family interactions false 211945 Phase I - Functionalization of compounds false 75157 FasL/ CD95L signaling false 5602571 TRAF3 deficiency - HSE true 9909438 3-Methylcrotonyl-CoA carboxylase deficiency true 1433557 Signaling by SCF-KIT false 5579019 Defective FMO3 causes TMAU true 5545619 XAV939 stabilizes AXIN true 5632684 Hedgehog 'on' state false 9674519 Defective F8 sulfation at Y1699 true 9024446 NR1H2 and NR1H3-mediated signaling false 8873719 RAB geranylgeranylation false 400508 Incretin synthesis, secretion, and inactivation false 5683678 Defective ABCA3 causes SMDP3 true 3595174 Defective CHST14 causes EDS, musculocontractural type true 9670439 Signaling by phosphorylated juxtamembrane, extracellular and kinase domain KIT mutants true 4043916 Defective MPI causes MPI-CDG true 9031628 NGF-stimulated transcription false 9755511 KEAP1-NFE2L2 pathway false 446203 Asparagine N-linked glycosylation false 1483249 Inositol phosphate metabolism false 5682294 Defective ABCA12 causes ARCI4B true 2162123 Synthesis of Prostaglandins (PG) and Thromboxanes (TX) false 1169408 ISG15 antiviral mechanism false 2559580 Oxidative Stress Induced Senescence false 5579013 Defective CYP7B1 causes SPG5A and CBAS3 true 381340 Transcriptional regulation of white adipocyte differentiation false 3304356 SMAD2/3 Phosphorylation Motif Mutants in Cancer true 448424 Interleukin-17 signaling false 9842860 Regulation of endogenous retroelements false 6804756 Regulation of TP53 Activity through Phosphorylation false 5678520 Defective ABCB11 causes PFIC2 and BRIC2 true 373760 L1CAM interactions false 1461973 Defensins false 5619047 Defective SLC2A9 causes hypouricemia renal 2 (RHUC2) true 379724 tRNA Aminoacylation false 9674396 Imatinib-resistant PDGFR mutants true 9665686 Signaling by ERBB2 TMD/JMD mutants true 71737 Pyrophosphate hydrolysis false 8939902 Regulation of RUNX2 expression and activity false 8936459 RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function false 5603029 IkBA variant leads to EDA-ID true 6798163 Choline catabolism false 9674401 Sunitinib-resistant PDGFR mutants true 5362517 Signaling by Retinoic Acid false 388844 Receptor-type tyrosine-protein phosphatases false 8866376 Reelin signalling pathway false 75158 TRAIL signaling false 450294 MAP kinase activation false 5579027 Defective CYP27B1 causes VDDR1B true 9613829 Chaperone Mediated Autophagy false 9033500 TYSND1 cleaves peroxisomal proteins false 9864848 Complex IV assembly false 2894858 Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer true 168643 Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways false 5687128 MAPK6/MAPK4 signaling false 4090294 SUMOylation of intracellular receptors false 9013694 Signaling by NOTCH4 false 909733 Interferon alpha/beta signaling false 5579024 Defective MAT1A causes MATD true 5619110 Defective SLCO1B1 causes hyperbilirubinemia, Rotor type (HBLRR) true 6785470 tRNA processing in the mitochondrion false 73942 DNA Damage Reversal false 196791 Vitamin D (calciferol) metabolism false 1222556 ROS and RNS production in phagocytes false 5655799 Defective SLC40A1 causes hemochromatosis 4 (HFE4) (duodenum) true 163210 Formation of ATP by chemiosmotic coupling false 427413 NoRC negatively regulates rRNA expression false 5619114 Defective SLC5A7 causes distal hereditary motor neuronopathy 7A (HMN7A) true 453276 Regulation of mitotic cell cycle false 3656225 Defective CHST6 causes MCDC1 true 9006115 Signaling by NTRK2 (TRKB) false 68962 Activation of the pre-replicative complex false 3645790 TGFBR2 Kinase Domain Mutants in Cancer true 9725370 Signaling by ALK fusions and activated point mutants true 5619044 Defective SLC6A19 causes Hartnup disorder (HND) true 6791055 TALDO1 deficiency: failed conversion of SH7P, GA3P to Fru(6)P, E4P true 1247673 Erythrocytes take up oxygen and release carbon dioxide false 9672391 Defective F8 cleavage by thrombin true 5625900 RHO GTPases activate CIT false 373080 Class B/2 (Secretin family receptors) false 9673768 Signaling by membrane-tethered fusions of PDGFRA or PDGFRB true 1170546 Prolactin receptor signaling false 1445148 Translocation of SLC2A4 (GLUT4) to the plasma membrane false 8949215 Mitochondrial calcium ion transport false 3371598 Defective BTD causes biotidinase deficiency true 5662853 Essential pentosuria true 9759774 Diseases of mitochondrial beta oxidation true 381426 Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) false 9674428 PDGFR mutants bind TKIs true 9702581 crenolanib-resistant FLT3 mutants true 5579022 Defective GGT1 causes GLUTH true 9772572 Early SARS-CoV-2 Infection Events true 140877 Formation of Fibrin Clot (Clotting Cascade) false 9827857 Specification of primordial germ cells false 5654743 Signaling by FGFR4 false 168799 Neurotoxicity of clostridium toxins true 9674555 Signaling by CSF3 (G-CSF) false 9820962 Assembly and release of respiratory syncytial virus (RSV) virions true 75892 Platelet Adhesion to exposed collagen false 5633231 Defective ALG14 causes ALG14-CMS true 416482 G alpha (12/13) signalling events false 9734281 Defective HPRT1 disrupts guanine and hypoxanthine salvage true 5679001 Defective ABCC2 causes DJS true 8956320 Nucleotide biosynthesis false 9793380 Formation of paraxial mesoderm false 1368082 RORA activates gene expression false 6790901 rRNA modification in the nucleus and cytosol false 2206308 MPS IV - Morquio syndrome B true 5627123 RHO GTPases activate PAKs false 9818030 NFE2L2 regulating tumorigenic genes false 5578999 Defective GCLC causes HAGGSD true 2559585 Oncogene Induced Senescence false 5609977 Defective GALE causes EDG true 927802 Nonsense-Mediated Decay (NMD) false 9662360 Sensory processing of sound by inner hair cells of the cochlea false 9664565 Signaling by ERBB2 KD Mutants true 3359473 Defective MMADHC causes MMAHCD true 912446 Meiotic recombination false 1592389 Activation of Matrix Metalloproteinases false 157858 Gap junction trafficking and regulation false 9665233 Resistance of ERBB2 KD mutants to trastuzumab true 9820841 M-decay: degradation of maternal mRNAs by maternally stored factors false 5603027 IKBKG deficiency causes anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID) (via TLR) true 9665247 Resistance of ERBB2 KD mutants to osimertinib true 9702509 FLT3 mutants bind TKIs true 381038 XBP1(S) activates chaperone genes false 6798695 Neutrophil degranulation false 1632852 Macroautophagy false 9648895 Response of EIF2AK1 (HRI) to heme deficiency false 450282 MAPK targets/ Nuclear events mediated by MAP kinases false 114508 Effects of PIP2 hydrolysis false 2032785 YAP1- and WWTR1 (TAZ)-stimulated gene expression false 4655427 SUMOylation of DNA methylation proteins false 75153 Apoptotic execution phase false 375165 NCAM signaling for neurite out-growth false 1234174 Cellular response to hypoxia false 8934593 Regulation of RUNX1 Expression and Activity false 9709570 Impaired BRCA2 binding to RAD51 true 5632968 Defective Mismatch Repair Associated With MSH6 true 5467343 Deletions in the AMER1 gene destabilize the destruction complex true 9734195 Defective APRT disrupts adenine salvage true 196071 Metabolism of steroid hormones false 9630222 Defective NTHL1 substrate binding true 9755088 Ribavirin ADME false 9918438 Defective visual phototransduction due to RDH5 loss of function true 5688399 Defective ABCA3 causes SMDP3 true 2454202 Fc epsilon receptor (FCERI) signaling false 5659996 RPIA deficiency: failed conversion of R5P to RU5P true 9702596 lestaurtinib-resistant FLT3 mutants true 6782315 tRNA modification in the nucleus and cytosol false 5619097 Defective SLC34A3 causes Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) true 9703648 Signaling by FLT3 ITD and TKD mutants true 5619107 Defective TPR may confer susceptibility towards thyroid papillary carcinoma (TPC) true 5619067 Defective SLC1A1 is implicated in schizophrenia 18 (SCZD18) and dicarboxylic aminoaciduria (DCBXA) true 9662361 Sensory processing of sound by outer hair cells of the cochlea false 6803157 Antimicrobial peptides false 165159 MTOR signalling false 392518 Signal amplification false 8981607 Intracellular oxygen transport false 5579021 Defective CYP21A2 causes AH3 true 5609976 Defective GALK1 causes GALCT2 true 9819196 Zygotic genome activation (ZGA) false 9702590 gilteritinib-resistant FLT3 mutants true 3000170 Syndecan interactions false 432047 Passive transport by Aquaporins false 9723905 Loss of function of TP53 in cancer due to loss of tetramerization ability true 5083628 Defective POMGNT1 causes MDDGA3, MDDGB3 and MDDGC3 true 977225 Amyloid fiber formation false 5223345 Miscellaneous transport and binding events false 5628897 TP53 Regulates Metabolic Genes false 2206290 MPS IV - Morquio syndrome A true 112314 Neurotransmitter receptors and postsynaptic signal transmission false 9706019 RHOBTB3 ATPase cycle false 5627117 RHO GTPases Activate ROCKs false 8963676 Intestinal absorption false 9664424 Cell recruitment (pro-inflammatory response) true 9758920 Formation of lateral plate mesoderm false 5579005 Defective CYP4F22 causes ARCI5 true 72764 Eukaryotic Translation Termination false 9674403 Regorafenib-resistant PDGFR mutants true 9842640 Signaling by LTK in cancer true 9820965 Respiratory syncytial virus (RSV) genome replication, transcription and translation true 5619076 Defective SLC17A8 causes autosomal dominant deafness 25 (DFNA25) true 8854214 TBC/RABGAPs false 2132295 MHC class II antigen presentation false 9856649 Transcriptional and post-translational regulation of MITF-M expression and activity false 199992 trans-Golgi Network Vesicle Budding false 9845619 Enhanced cleavage of VWF variant by ADAMTS13 true 5625886 Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 false 3560792 Defective SLC26A2 causes chondrodysplasias true 3656237 Defective EXT2 causes exostoses 2 true 5579012 Defective MAOA causes BRUNS true 416476 G alpha (q) signalling events false 6799198 Complex I biogenesis false 9652169 Signaling by MAP2K mutants true 9758919 Epithelial-Mesenchymal Transition (EMT) during gastrulation false 9818027 NFE2L2 regulating anti-oxidant/detoxification enzymes false 6806834 Signaling by MET false 9759475 Regulation of CDH11 Expression and Function false 376176 Signaling by ROBO receptors false 69002 DNA Replication Pre-Initiation false 451927 Interleukin-2 family signaling false 453279 Mitotic G1 phase and G1/S transition false 216083 Integrin cell surface interactions false 1799339 SRP-dependent cotranslational protein targeting to membrane false 5660489 MTF1 activates gene expression false 5679090 Defective ABCG8 causes GBD4 and sitosterolemia true 112310 Neurotransmitter release cycle false 5619046 Defective SLC26A4 causes Pendred syndrome (PDS) true 5654741 Signaling by FGFR3 false 983231 Factors involved in megakaryocyte development and platelet production false 5083629 Defective POMT2 causes MDDGA2, MDDGB2 and MDDGC2 true 9022535 Loss of phosphorylation of MECP2 at T308 true 9669926 Nilotinib-resistant KIT mutants true 9700645 ALK mutants bind TKIs true 8985947 Interleukin-9 signaling false 9673218 Defective F9 secretion true 9690406 Transcriptional regulation of testis differentiation false 9656223 Signaling by RAF1 mutants true 76005 Response to elevated platelet cytosolic Ca2+ false 70921 Histidine catabolism false 2206302 MPS I - Hurler syndrome true 3656248 Defective HEXB causes GM2G2 true 975871 MyD88 cascade initiated on plasma membrane false 9018679 Biosynthesis of EPA-derived SPMs false 9918436 Defective visual phototransduction due to OPN1MW loss of function true 8878166 Transcriptional regulation by RUNX2 false 2660825 Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant true 2206305 MPS IIID - Sanfilippo syndrome D true 6794362 Protein-protein interactions at synapses false 9646303 Evasion of Oncogene Induced Senescence Due to p14ARF Defects true 9670613 Defective Inhibition of DNA Recombination at Telomere Due to DAXX Mutations true 9860927 Turbulent (oscillatory, disturbed) flow shear stress activates signaling by PIEZO1 and integrins in endothelial cells false 9841251 Mitochondrial unfolded protein response (UPRmt) false 6802946 Signaling by moderate kinase activity BRAF mutants true 4085001 Sialic acid metabolism false 9678108 SARS-CoV-1 Infection true 71403 Citric acid cycle (TCA cycle) false 5658208 Defective SLC5A2 causes renal glucosuria (GLYS1) true 5250924 B-WICH complex positively regulates rRNA expression false 8964572 Lipid particle organization false 9818749 Regulation of NFE2L2 gene expression false 2172127 DAP12 interactions false 9839373 Signaling by TGFBR3 false 9672396 Defective cofactor function of FVIIIa variant true 1181150 Signaling by NODAL false 9699150 Defective DNA double strand break response due to BARD1 loss of function true 9763198 Impaired BRCA2 binding to SEM1 (DSS1) true 5619077 Defective SLC24A1 causes congenital stationary night blindness 1D (CSNB1D) true 5602636 IKBKB deficiency causes SCID true 1237044 Erythrocytes take up carbon dioxide and release oxygen false 3232118 SUMOylation of transcription factors false 3560796 Defective PAPSS2 causes SEMD-PA true 9793528 Ciprofloxacin ADME false 77289 Mitochondrial Fatty Acid Beta-Oxidation false 977347 Serine biosynthesis false 4793950 Defective MAN1B1 causes MRT15 true 9916720 Mitochondrial short-chain enoyl-CoA hydratase deficiency 1 true 9679191 Potential therapeutics for SARS true 9726840 SHOC2 M1731 mutant abolishes MRAS complex function true 3359475 Defective MMAA causes MMA, cblA type true 9916722 3-hydroxyisobutyryl-CoA hydrolase deficiency true 5545483 Defective Mismatch Repair Associated With MLH1 true 4755579 Defective SRD5A3 causes SRD5A3-CDG, KHRZ true 5686938 Regulation of TLR by endogenous ligand false 5619071 Defective SLC22A12 causes renal hypouricemia 1 (RHUC1) true 5683826 Surfactant metabolism false 9918450 Defective visual phototransduction due to OPN1LW loss of function true 5083635 Defective B3GALTL causes PpS true 9818028 NFE2L2 regulates pentose phosphate pathway genes false 2206285 MPS VI - Maroteaux-Lamy syndrome true 5660724 Defective SLC6A3 causes Parkinsonism-dystonia infantile (PKDYS) true 381753 Olfactory Signaling Pathway false 917937 Iron uptake and transport false 9824856 Defective regulation of TLR7 by endogenous ligand true 169911 Regulation of Apoptosis false 1221632 Meiotic synapsis false 5358751 CTNNB1 S45 mutants aren't phosphorylated true 9672387 Defective F8 accelerates dissociation of the A2 domain true 9702620 quizartinib-resistant FLT3 mutants true 427389 ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression false 8852405 Signaling by MST1 false 5625740 RHO GTPases activate PKNs false 5658034 HHAT G278V doesn't palmitoylate Hh-Np true 1566948 Elastic fibre formation false 3371497 HSP90 chaperone cycle for steroid hormone receptors (SHR) in the presence of ligand false 71064 Lysine catabolism false 166187 Mitochondrial Uncoupling false 9614085 FOXO-mediated transcription false 5083625 Defective GALNT3 causes HFTC true 2187338 Visual phototransduction false 9693928 Defective RIPK1-mediated regulated necrosis true 9012852 Signaling by NOTCH3 false 6811442 Intra-Golgi and retrograde Golgi-to-ER traffic false 8935690 Digestion false 373753 Nephrin family interactions false 8878159 Transcriptional regulation by RUNX3 false 5579017 Defective CYP11B1 causes AH4 true 9717316 alectinib-resistant ALK mutants true 1980143 Signaling by NOTCH1 false 9754189 Germ layer formation at gastrulation false 9702605 pexidartinib-resistant FLT3 mutants true 1257604 PIP3 activates AKT signaling false 202733 Cell surface interactions at the vascular wall false 418555 G alpha (s) signalling events false 3311021 SMAD4 MH2 Domain Mutants in Cancer true 8853383 Lysosomal oligosaccharide catabolism false 5619095 Defective SLCO2A1 causes primary, autosomal recessive hypertrophic osteoarthropathy 2 (PHOAR2) true 6804760 Regulation of TP53 Activity through Methylation false 9748787 Azathioprine ADME false 8956321 Nucleotide salvage false 9749641 Aspirin ADME false 4551638 SUMOylation of chromatin organization proteins false 9632700 Evasion of Oxidative Stress Induced Senescence Due to Defective p16INK4A binding to CDK4 and CDK6 true 9832991 Formation of the posterior neural plate false 75067 Processing of Capped Intronless Pre-mRNA false 74752 Signaling by Insulin receptor false 425393 Transport of inorganic cations/anions and amino acids/oligopeptides false 9845620 Enhanced binding of GP1BA variant to VWF multimer:collagen true 5579006 Defective GSS causes GSS deficiency true 9615710 Late endosomal microautophagy false 6791226 Major pathway of rRNA processing in the nucleolus and cytosol false 75105 Fatty acyl-CoA biosynthesis false 3814836 Glycogen storage disease type XV (GYG1) true 982772 Growth hormone receptor signaling false 9630794 Evasion of Oncogene Induced Senescence Due to Defective p16INK4A binding to CDK4 and CDK6 true 3282872 Severe congenital neutropenia type 4 (G6PC3) true 4549380 Defective ALG1 causes CDG-1k true 8848021 Signaling by PTK6 false 8953750 Transcriptional Regulation by E2F6 false 5578995 Defective TPMT causes TPMT deficiency true 5576891 Cardiac conduction false 400206 Regulation of lipid metabolism by PPARalpha false 5619085 Defective SLC26A3 causes congenital secretory chloride diarrhea 1 (DIAR1) true 9633012 Response of EIF2AK4 (GCN2) to amino acid deficiency false 5579016 Defective UGT1A4 causes hyperbilirubinemia true 5682113 Defective ABCA1 causes TGD true 211000 Gene Silencing by RNA false 72086 mRNA Capping false 5617833 Cilium Assembly false 2564830 Cytosolic iron-sulfur cluster assembly false 5696398 Nucleotide Excision Repair false 70688 Proline catabolism false 4085011 Defective GNE causes sialuria, NK and IBM2 true 5340588 Signaling by RNF43 mutants true 373076 Class A/1 (Rhodopsin-like receptors) false 5210891 Uptake and function of anthrax toxins true 209952 Peptide hormone biosynthesis false 5625970 RHO GTPases activate KTN1 false 5683371 Defective ABCB6 causes MCOPCB7 true 9656255 Defective OGG1 Substrate Binding true 9672395 Defective F8 binding to the cell membrane true 6806003 Regulation of TP53 Expression and Degradation false 8877627 Vitamin E false 2206280 MPS IX - Natowicz syndrome true 427359 SIRT1 negatively regulates rRNA expression false 9634597 GPER1 signaling false 5619092 Defective SLC9A6 causes X-linked, syndromic mental retardation,, Christianson type (MRXSCH) true 9033658 Blood group systems biosynthesis false 9657689 Defective SERPING1 causes hereditary angioedema true 1222499 Latent infection - Other responses of Mtb to phagocytosis true 9702998 linifanib-resistant FLT3 mutants true 72613 Eukaryotic Translation Initiation false 5652084 Fructose metabolism false 5467337 APC truncation mutants have impaired AXIN binding true 8851680 Butyrophilin (BTN) family interactions false 445355 Smooth Muscle Contraction false 2408522 Selenoamino acid metabolism false 5619035 Defective SLC17A5 causes Salla disease (SD) and ISSD true 5654738 Signaling by FGFR2 false 1227986 Signaling by ERBB2 false 3359454 Defective TCN2 causes TCN2 deficiency true 9856872 Malate-aspartate shuttle false 9634285 Constitutive Signaling by Overexpressed ERBB2 true 2206307 MPS IIIA - Sanfilippo syndrome A true 204005 COPII-mediated vesicle transport false 9907570 Loss-of-function mutations in DLD cause MSUD3/DLDD true 9856651 MITF-M-dependent gene expression false 9665737 Drug resistance in ERBB2 TMD/JMD mutants true 3642279 TGFBR2 MSI Frameshift Mutants in Cancer true 2160456 Phenylketonuria true 3299685 Detoxification of Reactive Oxygen Species false 69242 S Phase false 9665246 Resistance of ERBB2 KD mutants to neratinib true 5683329 Defective ABCD4 causes MAHCJ true 5334118 DNA methylation false 9645135 STAT5 Activation false 9703465 Signaling by FLT3 fusion proteins true 5619104 Defective SLC12A1 causes Bartter syndrome 1 (BS1) true 9772755 Formation of WDR5-containing histone-modifying complexes false 5666185 RHO GTPases Activate Rhotekin and Rhophilins false 9918440 Defective visual phototransduction due to RDH12 loss of function true 5626467 RHO GTPases activate IQGAPs false 8937144 Aryl hydrocarbon receptor signalling false 9702614 ponatinib-resistant FLT3 mutants true 3560801 Defective B3GAT3 causes JDSSDHD true 5619048 Defective SLC11A2 causes hypochromic microcytic anemia, with iron overload 1 (AHMIO1) true 5368287 Mitochondrial translation false 4570464 SUMOylation of RNA binding proteins false 9840373 Cellular response to mitochondrial stress false 9018677 Biosynthesis of DHA-derived SPMs false 4755510 SUMOylation of immune response proteins false 72203 Processing of Capped Intron-Containing Pre-mRNA false 9820865 Z-decay: degradation of maternal mRNAs by zygotically expressed factors false 5579030 Defective CYP19A1 causes AEXS true 5659729 Defective SLC6A18 may confer susceptibility to iminoglycinuria and/or hyperglycinuria true 3656243 Defective ST3GAL3 causes MCT12 and EIEE15 true 6787450 tRNA modification in the mitochondrion false 9669936 Sorafenib-resistant KIT mutants true 381183 ATF6 (ATF6-alpha) activates chaperone genes false 2022090 Assembly of collagen fibrils and other multimeric structures false 382556 ABC-family proteins mediated transport false 3359474 Defective MMACHC causes MAHCC true 418594 G alpha (i) signalling events false 9717264 ASP-3026-resistant ALK mutants true 9912529 H139Hfs13* PPM1K causes a mild variant of MSUD true 264876 Insulin processing false 9914355 Isovaleric acidemia true 1368108 BMAL1:CLOCK,NPAS2 activates circadian gene expression false 880009 Interconversion of 2-oxoglutarate and 2-hydroxyglutarate false 9662851 Anti-inflammatory response favouring Leishmania parasite infection true 1362409 Mitochondrial iron-sulfur cluster biogenesis false 8866654 E3 ubiquitin ligases ubiquitinate target proteins false 181431 Acetylcholine binding and downstream events false 9673770 Signaling by PDGFRA extracellular domain mutants true 1474228 Degradation of the extracellular matrix false 9707616 Heme signaling false 388841 Costimulation by the CD28 family false 9645722 Defective Intrinsic Pathway for Apoptosis Due to p14ARF Loss of Function true 2892247 POU5F1 (OCT4), SOX2, NANOG activate genes related to proliferation false 1650814 Collagen biosynthesis and modifying enzymes false 5658471 Defective SLC5A7 causes distal hereditary motor neuronopathy 7A (HMN7A) true 446652 Interleukin-1 family signaling false 9702632 sunitinib-resistant FLT3 mutants true 209776 Metabolism of amine-derived hormones false 5619072 Defective SLC35A2 causes congenital disorder of glycosylation 2M (CDG2M) true 3274531 Glycogen storage disease type Ia (G6PC) true 9669917 Imatinib-resistant KIT mutants true 168164 Toll Like Receptor 3 (TLR3) Cascade false 1474244 Extracellular matrix organization false 8978934 Metabolism of cofactors false 9772573 Late SARS-CoV-2 Infection Events true 8852135 Protein ubiquitination false 8949664 Processing of SMDT1 false 9857492 Protein lipoylation false 9704646 Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA2/RAD51/RAD51C binding function true 2161522 Abacavir ADME false 9616222 Transcriptional regulation of granulopoiesis false 9646399 Aggrephagy false 9615017 FOXO-mediated transcription of oxidative stress, metabolic and neuronal genes false 2173782 Binding and Uptake of Ligands by Scavenger Receptors false 9821993 Replacement of protamines by nucleosomes in the male pronucleus false 194441 Metabolism of non-coding RNA false 2142700 Biosynthesis of Lipoxins (LX) false 6791462 TALDO1 deficiency: failed conversion of Fru(6)P, E4P to SH7P, GA3P true 193704 p75 NTR receptor-mediated signalling false 9656256 Defective OGG1 Substrate Processing true 3858516 Glycogen storage disease type 0 (liver GYS2) true 9614657 FOXO-mediated transcription of cell death genes false 9818564 Epigenetic regulation of gene expression by MLL3 and MLL4 complexes false 9865881 Complex III assembly false 9725554 Differentiation of keratinocytes in interfollicular epidermis in mammalian skin false 1268020 Mitochondrial protein import false 5602498 MyD88 deficiency (TLR2/4) true 2466712 Biosynthesis of A2E, implicated in retinal degradation true 166166 MyD88-independent TLR4 cascade false 1679131 Trafficking and processing of endosomal TLR false 6807878 COPI-mediated anterograde transport false 9796292 Formation of axial mesoderm false 1296071 Potassium Channels false 977443 GABA receptor activation false 9830364 Formation of the nephric duct false 8941413 Events associated with phagocytolytic activity of PMN cells false 8856828 Clathrin-mediated endocytosis false 9616334 Defective Base Excision Repair Associated with NEIL1 true 6783589 Interleukin-6 family signaling false 445989 TAK1-dependent IKK and NF-kappa-B activation false 9665251 Resistance of ERBB2 KD mutants to lapatinib true 5619042 Defective RHAG causes regulator type Rh-null hemolytic anemia (RHN) true 73857 RNA Polymerase II Transcription false 380994 ATF4 activates genes in response to endoplasmic reticulum stress false 157579 Telomere Maintenance false 9717319 brigatinib-resistant ALK mutants true 71336 Pentose phosphate pathway false 212300 PRC2 methylates histones and DNA false 9648002 RAS processing false 5659735 Defective SLC6A19 causes Hartnup disorder (HND) true 75944 Transcription from mitochondrial promoters false 201451 Signaling by BMP false 9764302 Regulation of CDH19 Expression and Function false 5578998 Defective OPLAH causes OPLAHD true 525793 Myogenesis false 9609523 Insertion of tail-anchored proteins into the endoplasmic reticulum membrane false 9842663 Signaling by LTK false 9833482 PKR-mediated signaling false 5678771 Defective ABCB4 causes PFIC3, ICP3 and GBD1 true 354192 Integrin signaling false 446728 Cell junction organization false 9652817 Signaling by MAPK mutants true 2559582 Senescence-Associated Secretory Phenotype (SASP) false 8979227 Triglyceride metabolism false 5467348 Truncations of AMER1 destabilize the destruction complex true 202403 TCR signaling false 8982491 Glycogen metabolism false 5619094 Variant SLC6A14 may confer susceptibility towards obesity true 5619111 Defective SLC20A2 causes idiopathic basal ganglia calcification 1 (IBGC1) true 73864 RNA Polymerase I Transcription false 9761174 Formation of intermediate mesoderm false 9912481 Branched-chain ketoacid dehydrogenase kinase deficiency true 74182 Ketone body metabolism false 2206292 MPS VII - Sly syndrome true 9717326 crizotinib-resistant ALK mutants true 72312 rRNA processing false 5579028 Defective CYP17A1 causes AH5 true 5619060 Defective CP causes aceruloplasminemia (ACERULOP) true 3359457 Defective CBLIF causes IFD true 9702577 semaxanib-resistant FLT3 mutants true 6802952 Signaling by BRAF and RAF1 fusions true 397795 G-protein beta:gamma signalling false 5619070 Defective SLC16A1 causes symptomatic deficiency in lactate transport (SDLT) true 5674404 PTEN Loss of Function in Cancer true 9845576 Glycosphingolipid transport false 5620971 Pyroptosis false 6783783 Interleukin-10 signaling false 170834 Signaling by TGF-beta Receptor Complex false 1483255 PI Metabolism false 9649948 Signaling downstream of RAS mutants true 5619078 Defective SLC35C1 causes congenital disorder of glycosylation 2C (CDG2C) true 6783310 Fanconi Anemia Pathway false 6784531 tRNA processing in the nucleus false 9854311 Maturation of TCA enzymes and regulation of TCA cycle false 5619056 Defective HK1 causes hexokinase deficiency (HK deficiency) true 9673324 WNT5:FZD7-mediated leishmania damping true 6804759 Regulation of TP53 Activity through Association with Co-factors false 9860276 SLC15A4:TASL-dependent IRF5 activation false 9865125 Loss-of-function mutations in BCKDHA or BCKDHB cause MSUD true 1912422 Pre-NOTCH Expression and Processing false 5423646 Aflatoxin activation and detoxification false 198933 Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell false 5655332 Signaling by FGFR3 in disease true 4420332 Defective B3GALT6 causes EDSP2 and SEMDJL1 true 8957275 Post-translational protein phosphorylation false 2691230 Signaling by NOTCH1 HD Domain Mutants in Cancer true 5676934 Protein repair false 8964539 Glutamate and glutamine metabolism false 5657560 Hereditary fructose intolerance true 9674404 Sorafenib-resistant PDGFR mutants true 5663213 RHO GTPases Activate WASPs and WAVEs false 112308 Presynaptic depolarization and calcium channel opening false 9665244 Resistance of ERBB2 KD mutants to sapitinib true 5619054 Defective SLC4A4 causes renal tubular acidosis, proximal, with ocular abnormalities and mental retardation (pRTA-OA) true 8950505 Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation false 166058 MyD88:MAL(TIRAP) cascade initiated on plasma membrane false 2046104 alpha-linolenic (omega3) and linoleic (omega6) acid metabolism false 9702624 sorafenib-resistant FLT3 mutants true 9661069 Defective binding of RB1 mutants to E2F1,(E2F2, E2F3) true 5682910 LGI-ADAM interactions false 2682334 EPH-Ephrin signaling false 9669924 Masitinib-resistant KIT mutants true 189200 Cellular hexose transport false 5579011 Defective CYP2U1 causes SPG56 true 5619041 Defective SLC36A2 causes iminoglycinuria (IG) and hyperglycinuria (HG) true 452723 Transcriptional regulation of pluripotent stem cells false 112409 RAF-independent MAPK1/3 activation false 9735763 Defective PNP disrupts phosphorolysis of (deoxy)guanosine and (deoxy)inosine true 1483206 Glycerophospholipid biosynthesis false 9818025 NFE2L2 regulating TCA cycle genes false 373755 Semaphorin interactions false 5619039 Defective SLC12A6 causes agenesis of the corpus callosum, with peripheral neuropathy (ACCPN) true 5619113 Defective SLC3A1 causes cystinuria (CSNU) true 5655253 Signaling by FGFR2 in disease true 9824272 Somitogenesis false 68884 Mitotic Telophase/Cytokinesis false 202131 Metabolism of nitric oxide: NOS3 activation and regulation false 1614635 Sulfur amino acid metabolism false 381119 Unfolded Protein Response (UPR) false 6791461 RPIA deficiency: failed conversion of RU5P to R5P true 5579004 Defective CYP26C1 causes FFDD4 true 2173793 Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimer false 4755583 Defective DOLK causes DOLK-CDG true 5655302 Signaling by FGFR1 in disease true 5083633 Defective POMT1 causes MDDGA1, MDDGB1 and MDDGC1 true 879415 Advanced glycosylation endproduct receptor signaling false 8963691 Phenylalanine and tyrosine metabolism false 73933 Resolution of Abasic Sites (AP sites) false 5638302 Signaling by Overexpressed Wild-Type EGFR in Cancer true 4793952 Defective MGAT2 causes CDG-2a true 9793242 SUMOylation of nuclear envelope proteins false 5693567 HDR through Homologous Recombination (HRR) or Single Strand Annealing (SSA) false 4551295 Defective ALG11 causes CDG-1p true 3785653 Myoclonic epilepsy of Lafora true 5632927 Defective Mismatch Repair Associated With MSH3 true 75893 TNF signaling false 5693606 DNA Double Strand Break Response false 5627083 RHO GTPases regulate CFTR trafficking false 5619055 Defective SLC24A4 causes hypomineralized amelogenesis imperfecta (AI) true 2892245 POU5F1 (OCT4), SOX2, NANOG repress genes related to differentiation false 187037 Signaling by NTRK1 (TRKA) false 5579010 Defective CYP24A1 causes HCAI true 9634815 Transcriptional Regulation by NPAS4 false 2426168 Activation of gene expression by SREBF (SREBP) false 4085023 Defective GFPT1 causes CMSTA1 true 428157 Sphingolipid metabolism false 5619045 Defective SLC34A2 causes pulmonary alveolar microlithiasis (PALM) true 3858494 Beta-catenin independent WNT signaling false 6793080 rRNA modification in the mitochondrion false 5619088 Defective SLC39A4 causes acrodermatitis enteropathica, zinc-deficiency type (AEZ) true 5362768 Hh mutants are degraded by ERAD true 163125 Post-translational modification: synthesis of GPI-anchored proteins false 5339700 Signaling by TCF7L2 mutants true 5602566 TICAM1 deficiency - HSE true 9692914 SARS-CoV-1-host interactions true 881907 Gastrin-CREB signalling pathway via PKC and MAPK false 5467333 APC truncation mutants are not K63 polyubiquitinated true 9673221 Defective F9 activation true 3359469 Defective MTR causes HMAG true 5661270 Formation of xylulose-5-phosphate false 9034015 Signaling by NTRK3 (TRKC) false 114604 GPVI-mediated activation cascade false 5656364 Defective SLC5A1 causes congenital glucose/galactose malabsorption (GGM) true 9687136 Aberrant regulation of mitotic exit in cancer due to RB1 defects true 3899300 SUMOylation of transcription cofactors false 5685939 HDR through MMEJ (alt-NHEJ) false 201556 Signaling by ALK false 9753510 Signaling by RAS GAP mutants true 4687000 Defective MPDU1 causes CDG-1f true 9837999 Mitochondrial protein degradation false 6796648 TP53 Regulates Transcription of DNA Repair Genes false 166658 Complement cascade false 9669921 KIT mutants bind TKIs true 9645460 Alpha-protein kinase 1 signaling pathway false 422085 Synthesis, secretion, and deacylation of Ghrelin false 425366 Transport of bile salts and organic acids, metal ions and amine compounds false 9843743 Transcriptional regulation of brown and beige adipocyte differentiation false 5339716 Signaling by GSK3beta mutants true 4719377 Defective DPM2 causes DPM2-CDG true 5579020 Defective SLC35D1 causes SCHBCKD true 8983711 OAS antiviral response false 5633008 TP53 Regulates Transcription of Cell Death Genes false 5602410 TLR3 deficiency - HSE true 5340573 LGK974 inhibits PORCN true 5678895 Defective CFTR causes cystic fibrosis true 4793953 Defective B4GALT1 causes CDG-2d true 6804758 Regulation of TP53 Activity through Acetylation false 9009391 Extra-nuclear estrogen signaling false 389661 Glyoxylate metabolism and glycine degradation false 5602415 UNC93B1 deficiency - HSE true 156580 Phase II - Conjugation of compounds false 5358346 Hedgehog ligand biogenesis false 9836573 Mitochondrial RNA degradation false 189445 Metabolism of porphyrins false 6806664 Metabolism of vitamin K false 5579002 Defective UGT1A1 causes hyperbilirubinemia true 9915355 Beta-ketothiolase deficiency true 5213460 RIPK1-mediated regulated necrosis false 9630221 Defective NTHL1 substrate processing true 9753281 Paracetamol ADME false 3656253 Defective EXT1 causes exostoses 1, TRPS2 and CHDS true 442755 Activation of NMDA receptors and postsynaptic events false 9701192 Defective homologous recombination repair (HRR) due to BRCA1 loss of function true 3656244 Defective B4GALT1 causes B4GALT1-CDG (CDG-2d) true 9865113 Loss-of-function mutations in DBT cause MSUD2 true 163841 Gamma carboxylation, hypusinylation, hydroxylation, and arylsulfatase activation false 5221030 TET1,2,3 and TDG demethylate DNA false 9709603 Impaired BRCA2 binding to PALB2 true 9717189 Sensory perception of taste false 8862803 Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models true 8955332 Carboxyterminal post-translational modifications of tubulin false 6782861 Synthesis of wybutosine at G37 of tRNA(Phe) false 5602680 MyD88 deficiency (TLR5) true 5668541 TNFR2 non-canonical NF-kB pathway false 5679096 Defective ABCG5 causes sitosterolemia true 8864260 Transcriptional regulation by the AP-2 (TFAP2) family of transcription factors false 8951664 Neddylation false 5579031 Defective ACTH causes obesity and POMCD true 5619068 Defective SLC2A10 causes arterial tortuosity syndrome (ATS) true 2559586 DNA Damage/Telomere Stress Induced Senescence false 194068 Bile acid and bile salt metabolism false 168255 Influenza Infection true 156842 Eukaryotic Translation Elongation false 9820960 Respiratory syncytial virus (RSV) attachment and entry true 3315487 SMAD2/3 MH2 Domain Mutants in Cancer true 196849 Metabolism of water-soluble vitamins and cofactors false 5619073 Defective GCK causes maturity-onset diabetes of the young 2 (MODY2) true 983189 Kinesins false 5579009 Defective CYP11B2 causes CMO-1 deficiency true 9733709 Cardiogenesis false 9603798 Class I peroxisomal membrane protein import false 196807 Nicotinate metabolism false 71262 Carnitine synthesis false 5578996 Defective CYP27A1 causes CTX true 9828806 Maturation of hRSV A proteins true 9665250 Resistance of ERBB2 KD mutants to AEE788 true 9664422 FCGR3A-mediated phagocytosis true 5693571 Nonhomologous End-Joining (NHEJ) false 2022377 Metabolism of Angiotensinogen to Angiotensins false 6802953 RAS signaling downstream of NF1 loss-of-function variants true 420499 Class C/3 (Metabotropic glutamate/pheromone receptors) false 112311 Neurotransmitter clearance false 201681 TCF dependent signaling in response to WNT false 4717374 Defective DPM1 causes DPM1-CDG true 5621481 C-type lectin receptors (CLRs) false 5619062 Defective SLC1A3 causes episodic ataxia 6 (EA6) true 5619079 Defective SLC6A18 may confer susceptibility to iminoglycinuria and/or hyperglycinuria true 5083630 Defective LFNG causes SCDO3 true 73929 Base-Excision Repair, AP Site Formation false 9646304 Evasion of Oxidative Stress Induced Senescence Due to p14ARF Defects true 5358752 CTNNB1 T41 mutants aren't phosphorylated true 9635486 Infection with Mycobacterium tuberculosis true 5619098 Defective SLC2A2 causes Fanconi-Bickel syndrome (FBS) true 8848584 Wax and plasmalogen biosynthesis false 3371599 Defective HLCS causes multiple carboxylase deficiency true 432040 Vasopressin regulates renal water homeostasis via Aquaporins false 4570571 Defective RFT1 causes CDG-1n true 8854691 Interleukin-20 family signaling false 5688890 Defective CSF2RA causes SMDP4 true 5688426 Deubiquitination false 6785807 Interleukin-4 and Interleukin-13 signaling false 2404192 Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R) false 9702569 KW2449-resistant FLT3 mutants true 112307 Transmission across Electrical Synapses false 9619665 EGR2 and SOX10-mediated initiation of Schwann cell myelination false 1236394 Signaling by ERBB4 false 3595172 Defective CHST3 causes SEDCJD true 9830674 Formation of the ureteric bud false 9709275 Impaired BRCA2 translocation to the nucleus true 5694530 Cargo concentration in the ER false 163685 Integration of energy metabolism false 2978092 Abnormal conversion of 2-oxoglutarate to 2-hydroxyglutarate true 9022537 Loss of MECP2 binding ability to the NCoR/SMRT complex true 5619066 Defective SLC22A18 causes lung cancer (LNCR) and embryonal rhabdomyosarcoma 1 (RMSE1) true 5688031 Defective pro-SFTPB causes SMDP1 and RDS true 5619083 Defective SLC35A3 causes arthrogryposis, mental retardation, and seizures (AMRS) true 611105 Respiratory electron transport false 9818032 NFE2L2 regulating MDR associated enzymes false 5657562 Essential fructosuria true 5674400 Constitutive Signaling by AKT1 E17K in Cancer true 5619049 Defective SLC40A1 causes hemochromatosis 4 (HFE4) (macrophages) true 5467340 AXIN missense mutants destabilize the destruction complex true