Diabetes - New-wiki

Novel	Symbols	Name 1	Name 2	Pathways 1 Hide	Pathways 2 Hide	Drugs 1 Hide	Drugs 2 Hide	Diseases 1 Hide	Diseases 2 Hide
Novel Novel	Symbols HNRNPD and IGF2BP2	Name 1 heterogeneous nuclear ribonucleoprotein D	Name2 insulin like growth factor 2 mRNA binding protein 2	Pathway 1 mRNA Splicing - Major Pathway Processing of Capped Intron-Containing Pre-mRNA	Pathway 2 Insulin-like Growth Factor-2 mRNA Binding Proteins (IGF2BPs/IMPs/VICKZs) bind RNA	Drugs 1 Artenimol	Drugs 2	Diseases 1	Diseases 2 Type II diabetes mellitus
Novel Novel	Symbols TSG101 and GLIS3	Name 1 tumor susceptibility 101	Name2 GLIS family zinc finger 3	Pathway 1 Budding and maturation of HIV virion Membrane binding and targetting of GAG proteins Endosomal Sorting Complex Required For Transport (ESCRT) HCMV Late Events Late endosomal microautophagy	Pathway 2	Drugs 1	Drugs 2	Diseases 1	Diseases 2
Novel Novel	Symbols GSK3B and NOTCH2	Name 1 glycogen synthase kinase 3 beta	Name2 notch receptor 2	Pathway 1 Degradation of beta-catenin by the destruction complex Beta-catenin phosphorylation cascade AKT phosphorylates targets in the cytosol Regulation of HSF1-mediated heat shock response CRMPs in Sema3A signaling Disassembly of the destruction complex and recruitment of AXIN to the membrane Disassembly of the destruction complex and recruitment of AXIN to the membrane B-WICH complex positively regulates rRNA expression Signaling by GSK3beta mutants CTNNB1 S33 mutants aren't phosphorylated CTNNB1 S37 mutants aren't phosphorylated CTNNB1 S45 mutants aren't phosphorylated CTNNB1 T41 mutants aren't phosphorylated APC truncation mutants have impaired AXIN binding AXIN missense mutants destabilize the destruction complex Truncations of AMER1 destabilize the destruction complex Degradation of GLI2 by the proteasome GLI3 is processed to GLI3R by the proteasome Constitutive Signaling by AKT1 E17K in Cancer Ubiquitin-Mediated Degradation of Phosphorylated Cdc25A Ubiquitin-dependent degradation of Cyclin D Regulation of RUNX2 expression and activity Maturation of nucleoprotein Maturation of nucleoprotein GSK3B and BTRC:CUL1-mediated-degradation of NFE2L2 Transcriptional and post-translational regulation of MITF-M expression and activity GSK3B-mediated proteasomal degradation of PD-L1(CD274)	Pathway 2 Pre-NOTCH Processing in the Endoplasmic Reticulum Pre-NOTCH Transcription and Translation Pre-NOTCH Processing in Golgi Pre-NOTCH Processing in Golgi NOTCH2 intracellular domain regulates transcription NOTCH2 intracellular domain regulates transcription NOTCH2 Activation and Transmission of Signal to the Nucleus NOTCH2 Activation and Transmission of Signal to the Nucleus Notch-HLH transcription pathway Defective LFNG causes SCDO3 NOTCH4 Intracellular Domain Regulates Transcription	Drugs 1 Lithium cation 3-[3-(2,3-Dihydroxy-Propylamino)-Phenyl]-4-(5-Fluoro-1-Methyl-1h-Indol-3-Yl)-Pyrrole-2,5-Dione SB-409513 AR-AO-14418 Staurosporine Indirubin-3'-monoxime 6-bromoindirubin-3'-oxime Alsterpaullone Phosphoaminophosphonic Acid-Adenylate Ester 2-(1,3-benzodioxol-5-yl)-5-[(3-fluoro-4-methoxybenzyl)sulfanyl]-1,3,4-oxadiazole 5-[1-(4-methoxyphenyl)-1H-benzimidazol-6-yl]-1,3,4-oxadiazole-2(3H)-thione (7S)-2-(2-aminopyrimidin-4-yl)-7-(2-fluoroethyl)-1,5,6,7-tetrahydro-4H-pyrrolo[3,2-c]pyridin-4-one N-[2-(5-methyl-4H-1,2,4-triazol-3-yl)phenyl]-7H-pyrrolo[2,3-d]pyrimidin-4-amine 5-(5-chloro-7H-pyrrolo[2,3-d]pyrimidin-4-yl)-4,5,6,7-tetrahydro-1H-imidazo[4,5-c]pyridine 3-({[(3S)-3,4-dihydroxybutyl]oxy}amino)-1H,2'H-2,3'-biindol-2'-one N-[(1S)-2-amino-1-phenylethyl]-5-(1H-pyrrolo[2,3-b]pyridin-4-yl)thiophene-2-carboxamide 4-(4-CHLOROPHENYL)-4-[4-(1H-PYRAZOL-4-YL)PHENYL]PIPERIDINE ISOQUINOLINE-5-SULFONIC ACID (2-(2-(4-CHLOROBENZYLOXY)ETHYLAMINO)ETHYL)AMIDE (2S)-1-(1H-INDOL-3-YL)-3-{[5-(3-METHYL-1H-INDAZOL-5-YL)PYRIDIN-3-YL]OXY}PROPAN-2-AMINE Fostamatinib Tideglusib Lithium citrate Lithium succinate Lithium carbonate	Drugs 2	Diseases 1	Diseases 2 Alagille syndrome Hajdu-Cheney syndrome Type II diabetes mellitus
Novel Novel	Symbols SGTA and C1QTNF6	Name 1 small glutamine rich tetratricopeptide repeat co-chaperone alpha	Name2 C1q and TNF related 6	Pathway 1 Insertion of tail-anchored proteins into the endoplasmic reticulum membrane Insertion of tail-anchored proteins into the endoplasmic reticulum membrane	Pathway 2	Drugs 1	Drugs 2	Diseases 1	Diseases 2
Novel Novel	Symbols LIMS1 and ADAMTS9	Name 1 LIM zinc finger domain containing 1	Name2 ADAM metallopeptidase with thrombospondin type 1 motif 9	Pathway 1 Cell-extracellular matrix interactions Regulation of cytoskeletal remodeling and cell spreading by IPP complex components	Pathway 2 Degradation of the extracellular matrix Defective B3GALTL causes PpS O-glycosylation of TSR domain-containing proteins	Drugs 1	Drugs 2	Diseases 1	Diseases 2 Type II diabetes mellitus
Novel Novel	Symbols OGT and CDKAL1	Name 1 O-linked N-acetylglucosamine (GlcNAc) transferase	Name2 CDKAL1 threonylcarbamoyladenosine tRNA methylthiotransferase	Pathway 1 HATs acetylate histones RIPK1-mediated regulated necrosis Regulation of necroptotic cell death UCH proteinases Formation of WDR5-containing histone-modifying complexes	Pathway 2 tRNA modification in the nucleus and cytosol	Drugs 1	Drugs 2	Diseases 1	Diseases 2 Type II diabetes mellitus
Novel Novel	Symbols ENSA and ABCC8	Name 1 endosulfine alpha	Name2 ATP binding cassette subfamily C member 8	Pathway 1 MASTL Facilitates Mitotic Progression MASTL Facilitates Mitotic Progression	Pathway 2 ATP sensitive Potassium channels Regulation of insulin secretion Defective ABCC8 can cause hypo- and hyper-glycemias	Drugs 1	Drugs 2 ATP Glimepiride Chlorpropamide Nateglinide Tolazamide Repaglinide Glyburide Glipizide Gliclazide Tolbutamide Gliquidone Mitiglinide Glymidine	Diseases 1	Diseases 2 Permanent neonatal diabetes mellitus (PNDM) Transient neonatal diabetes mellitus (TNDM)
Novel Novel	Symbols CSTB and CTSH	Name 1 cystatin B	Name2 cathepsin H	Pathway 1 Neutrophil degranulation	Pathway 2 MHC class II antigen presentation Surfactant metabolism Neutrophil degranulation	Drugs 1 Cupric Chloride	Drugs 2 N1-(1-Dimethylcarbamoyl-2-Phenyl-Ethyl)-2-Oxo-N4-(2-Pyridin-2-Yl-Ethyl)-Succinamide p-Toluenesulfonic acid N-[1-Hydroxycarboxyethyl-Carbonyl]Leucylamino-2-Methyl-Butane CARBOBENZYLOXY-(L)-LEUCINYL-(L)LEUCINYL METHOXYMETHYLKETONE	Diseases 1 Progressive myoclonic epilepsy (PME), including: Lafora disease (LBD); Unverricht-Lundborg disease (ULD); Neuronal ceroid lipofuscinoses (NCL); Type I sialidosis; Action myoclonus-renal failure syndrome (AMRF); Type III Gaucher disease (GD)	Diseases 2 Type I diabetes mellitus
Novel Novel	Symbols CD4 and HLA-DQB1	Name 1 CD4 molecule	Name2 major histocompatibility complex, class II, DQ beta 1	Pathway 1 Alpha-defensins Nef Mediated CD4 Down-regulation Binding and entry of HIV virion Vpu mediated degradation of CD4 Downstream TCR signaling Phosphorylation of CD3 and TCR zeta chains Translocation of ZAP-70 to Immunological synapse Generation of second messenger molecules Co-inhibition by PD-1 Other interleukin signaling Cargo recognition for clathrin-mediated endocytosis Clathrin-mediated endocytosis	Pathway 2 Downstream TCR signaling Phosphorylation of CD3 and TCR zeta chains Translocation of ZAP-70 to Immunological synapse Generation of second messenger molecules MHC class II antigen presentation Co-inhibition by PD-1 Interferon gamma signaling	Drugs 1 Antithymocyte immunoglobulin (rabbit) Clenoliximab Ibalizumab	Drugs 2	Diseases 1	Diseases 2 Systemic lupus erythematosus Graves' disease Hashimoto's thyroiditis Asthma Dilated cardiomyopathy (DCM) Viral myocarditis Tuberculosis Type I diabetes mellitus
Novel Novel	Symbols AVP and TXNDC17	Name 1 arginine vasopressin	Name2 thioredoxin domain containing 17	Pathway 1 BMAL1:CLOCK,NPAS2 activates circadian expression Vasopressin-like receptors G alpha (q) signalling events G alpha (s) signalling events Vasopressin regulates renal water homeostasis via Aquaporins Defective AVP does not bind AVPR1A,B and causes neurohypophyseal diabetes insipidus (NDI) Organic anion transport by SLCO transporters Cargo recognition for clathrin-mediated endocytosis Clathrin-mediated endocytosis Defective AVP does not bind AVPR2 and causes neurohypophyseal diabetes insipidus (NDI)	Pathway 2	Drugs 1	Drugs 2	Diseases 1 Neurohypophyseal diabetes insipidus (NPDI); Central Diabetes Insipidus	Diseases 2
Novel Novel	Symbols AVP and AVPR1A	Name 1 arginine vasopressin	Name2 arginine vasopressin receptor 1A	Pathway 1 BMAL1:CLOCK,NPAS2 activates circadian expression Vasopressin-like receptors G alpha (q) signalling events G alpha (s) signalling events Vasopressin regulates renal water homeostasis via Aquaporins Defective AVP does not bind AVPR1A,B and causes neurohypophyseal diabetes insipidus (NDI) Organic anion transport by SLCO transporters Cargo recognition for clathrin-mediated endocytosis Clathrin-mediated endocytosis Defective AVP does not bind AVPR2 and causes neurohypophyseal diabetes insipidus (NDI)	Pathway 2 Vasopressin-like receptors G alpha (q) signalling events Defective AVP does not bind AVPR1A,B and causes neurohypophyseal diabetes insipidus (NDI)	Drugs 1	Drugs 2 Desmopressin Vasopressin Felypressin Conivaptan Terlipressin PH-284 Tolvaptan Atosiban Relcovaptan Lypressin Pecavaptan	Diseases 1 Neurohypophyseal diabetes insipidus (NPDI); Central Diabetes Insipidus	Diseases 2
Novel Novel	Symbols RUNX1 and HLA-DRB1	Name 1 RUNX family transcription factor 1	Name2 major histocompatibility complex, class II, DR beta 1	Pathway 1 Pre-NOTCH Transcription and Translation SLC-mediated transport of organic cations RUNX1 and FOXP3 control the development of regulatory T lymphocytes (Tregs) RUNX1 regulates estrogen receptor mediated transcription Regulation of RUNX1 Expression and Activity Regulation of RUNX1 Expression and Activity 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 HSCs RUNX1 regulates transcription of genes involved in differentiation of HSCs RUNX1 regulates transcription of genes involved in differentiation of keratinocytes RUNX1 regulates transcription of genes involved in differentiation of keratinocytes RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known RUNX1 regulates transcription of genes involved in BCR signaling RUNX1 regulates transcription of genes involved in differentiation of myeloid cells RUNX1 regulates transcription of genes involved in interleukin signaling RUNX1 regulates transcription of genes involved in WNT signaling RUNX2 regulates genes involved in differentiation of myeloid cells RUNX3 regulates p14-ARF Estrogen-dependent gene expression Transcriptional regulation of granulopoiesis SARS-CoV-1 activates/modulates innate immune responses Differentiation of naive CD+ T cells to T helper 1 cells (Th1 cells)	Pathway 2 Downstream TCR signaling Phosphorylation of CD3 and TCR zeta chains Translocation of ZAP-70 to Immunological synapse Generation of second messenger molecules MHC class II antigen presentation Co-inhibition by PD-1 Interferon gamma signaling	Drugs 1	Drugs 2 1D09C3 Glatiramer Glatiramer Glatiramer Coccidioides immitis spherule	Diseases 1 Acute lymphoblastic leukemia (ALL) (precursor B lymphoblastic leukemia) Acute myeloid leukemia (AML) Chronic myeloid leukemia (CML) Thrombocytopenia (THC); Familial platelet disorder with associated myeloid malignancy (FPDMM)	Diseases 2 Systemic lupus erythematosus Graves' disease Hashimoto's thyroiditis Asthma Dilated cardiomyopathy (DCM) Tuberculosis Type I diabetes mellitus
Novel Novel	Symbols NFYC and PAX4	Name 1 nuclear transcription factor Y subunit gamma	Name2 paired box 4	Pathway 1 PPARA activates gene expression Activation of gene expression by SREBF (SREBP) Activation of gene expression by SREBF (SREBP) ATF4 activates genes in response to endoplasmic reticulum stress ATF6 (ATF6-alpha) activates chaperone genes ATF6 (ATF6-alpha) activates chaperone genes FOXO-mediated transcription of cell death genes	Pathway 2	Drugs 1	Drugs 2	Diseases 1	Diseases 2
Novel Novel	Symbols BPGM and CEL	Name 1 bisphosphoglycerate mutase	Name2 carboxyl ester lipase	Pathway 1 Glycolysis	Pathway 2 Digestion of dietary lipid Developmental Lineage of Pancreatic Acinar Cells	Drugs 1	Drugs 2 Taurocholic acid	Diseases 1 Anemia due to disorders of glycolytic enzymes, including: Hexokinase (HK) deficiency; Phosphoglycerate kinase 1 (PGK1) deficiency; Triose-phosphate isomerase (TPI) deficiency; Glucose phosphate isomerase (GPI) deficiency; Bisphosphoglycerate mutase (BPGM) deficiency	Diseases 2 Maturity onset diabetes of the young (MODY)
Novel Novel	Symbols FLNC and SGCG	Name 1 filamin C	Name2 sarcoglycan gamma	Pathway 1 Cell-extracellular matrix interactions	Pathway 2 Formation of the dystrophin-glycoprotein complex (DGC) Formation of the dystrophin-glycoprotein complex (DGC)	Drugs 1	Drugs 2	Diseases 1 Myofibrillar myopathies (MFM), including: Desminopathy (MFM1); alpha-B Crystallinopathy (MFM2); Myotilinopathy (MFM3); Zaspopathy (MFM4); Filaminopathy (MFM5); Bag3opathy	Diseases 2 Limb-girdle muscular dystrophy (LGMD) Sarcoglycanopathies, including: Limb-girdle muscular dystrophy (LGMD) 2C; Limb-girdle muscular dystrophy (LGMD) 2D; Limb-girdle muscular dystrophy (LGMD) 2E; Limb-girdle muscular dystrophy (LGMD) 2F
Novel Novel	Symbols FLNC and USP25	Name 1 filamin C	Name2 ubiquitin specific peptidase 25	Pathway 1 Cell-extracellular matrix interactions	Pathway 2 Ub-specific processing proteases	Drugs 1	Drugs 2	Diseases 1 Myofibrillar myopathies (MFM), including: Desminopathy (MFM1); alpha-B Crystallinopathy (MFM2); Myotilinopathy (MFM3); Zaspopathy (MFM4); Filaminopathy (MFM5); Bag3opathy	Diseases 2
Novel Novel	Symbols FLNC and RPS6KA2	Name 1 filamin C	Name2 ribosomal protein S6 kinase A2	Pathway 1 Cell-extracellular matrix interactions	Pathway 2 ERK/MAPK targets CREB phosphorylation Senescence-Associated Secretory Phenotype (SASP) Senescence-Associated Secretory Phenotype (SASP) Recycling pathway of L1 CREB1 phosphorylation through NMDA receptor-mediated activation of RAS signaling RSK activation RSK activation Gastrin-CREB signalling pathway via PKC and MAPK	Drugs 1	Drugs 2	Diseases 1 Myofibrillar myopathies (MFM), including: Desminopathy (MFM1); alpha-B Crystallinopathy (MFM2); Myotilinopathy (MFM3); Zaspopathy (MFM4); Filaminopathy (MFM5); Bag3opathy	Diseases 2
Novel Novel	Symbols FLNC and XIRP2	Name 1 filamin C	Name2 xin actin binding repeat containing 2	Pathway 1 Cell-extracellular matrix interactions	Pathway 2 Sensory processing of sound by inner hair cells of the cochlea Sensory processing of sound by outer hair cells of the cochlea	Drugs 1	Drugs 2	Diseases 1 Myofibrillar myopathies (MFM), including: Desminopathy (MFM1); alpha-B Crystallinopathy (MFM2); Myotilinopathy (MFM3); Zaspopathy (MFM4); Filaminopathy (MFM5); Bag3opathy	Diseases 2
Novel Novel	Symbols FLNC and REPS1	Name 1 filamin C	Name2 RALBP1 associated Eps domain containing 1	Pathway 1 Cell-extracellular matrix interactions	Pathway 2 Cargo recognition for clathrin-mediated endocytosis Clathrin-mediated endocytosis	Drugs 1	Drugs 2	Diseases 1 Myofibrillar myopathies (MFM), including: Desminopathy (MFM1); alpha-B Crystallinopathy (MFM2); Myotilinopathy (MFM3); Zaspopathy (MFM4); Filaminopathy (MFM5); Bag3opathy	Diseases 2
Novel Novel	Symbols ACTN2 and MYPN	Name 1 actinin alpha 2	Name2 myopalladin	Pathway 1 Platelet degranulation Nephrin family interactions Striated Muscle Contraction Unblocking of NMDA receptors, glutamate binding and activation Unblocking of NMDA receptors, glutamate binding and activation Ras activation upon Ca2+ influx through NMDA receptor RAF/MAP kinase cascade Assembly and cell surface presentation of NMDA receptors Negative regulation of NMDA receptor-mediated neuronal transmission Long-term potentiation	Pathway 2	Drugs 1	Drugs 2	Diseases 1	Diseases 2
Novel	Symbols HNRNPD and IGF2BP2	Name 1 heterogeneous nuclear ribonucleoprotein D	Name2 insulin like growth factor 2 mRNA binding protein 2	Pathway 1 mRNA Splicing - Major Pathway Processing of Capped Intron-Containing Pre-mRNA	Pathway 2 Insulin-like Growth Factor-2 mRNA Binding Proteins (IGF2BPs/IMPs/VICKZs) bind RNA	Drugs 1 Artenimol	Drugs 2	Diseases 1	Diseases 2 Type II diabetes mellitus
Novel	Symbols TSG101 and GLIS3	Name 1 tumor susceptibility 101	Name2 GLIS family zinc finger 3	Pathway 1 Budding and maturation of HIV virion Membrane binding and targetting of GAG proteins Endosomal Sorting Complex Required For Transport (ESCRT) HCMV Late Events Late endosomal microautophagy	Pathway 2	Drugs 1	Drugs 2	Diseases 1	Diseases 2
Novel	Symbols GSK3B and NOTCH2	Name 1 glycogen synthase kinase 3 beta	Name2 notch receptor 2	Pathway 1 Degradation of beta-catenin by the destruction complex Beta-catenin phosphorylation cascade AKT phosphorylates targets in the cytosol Regulation of HSF1-mediated heat shock response CRMPs in Sema3A signaling Disassembly of the destruction complex and recruitment of AXIN to the membrane Disassembly of the destruction complex and recruitment of AXIN to the membrane B-WICH complex positively regulates rRNA expression Signaling by GSK3beta mutants CTNNB1 S33 mutants aren't phosphorylated CTNNB1 S37 mutants aren't phosphorylated CTNNB1 S45 mutants aren't phosphorylated CTNNB1 T41 mutants aren't phosphorylated APC truncation mutants have impaired AXIN binding AXIN missense mutants destabilize the destruction complex Truncations of AMER1 destabilize the destruction complex Degradation of GLI2 by the proteasome GLI3 is processed to GLI3R by the proteasome Constitutive Signaling by AKT1 E17K in Cancer Ubiquitin-Mediated Degradation of Phosphorylated Cdc25A Ubiquitin-dependent degradation of Cyclin D Regulation of RUNX2 expression and activity Maturation of nucleoprotein Maturation of nucleoprotein GSK3B and BTRC:CUL1-mediated-degradation of NFE2L2 Transcriptional and post-translational regulation of MITF-M expression and activity GSK3B-mediated proteasomal degradation of PD-L1(CD274)	Pathway 2 Pre-NOTCH Processing in the Endoplasmic Reticulum Pre-NOTCH Transcription and Translation Pre-NOTCH Processing in Golgi Pre-NOTCH Processing in Golgi NOTCH2 intracellular domain regulates transcription NOTCH2 intracellular domain regulates transcription NOTCH2 Activation and Transmission of Signal to the Nucleus NOTCH2 Activation and Transmission of Signal to the Nucleus Notch-HLH transcription pathway Defective LFNG causes SCDO3 NOTCH4 Intracellular Domain Regulates Transcription	Drugs 1 Lithium cation 3-[3-(2,3-Dihydroxy-Propylamino)-Phenyl]-4-(5-Fluoro-1-Methyl-1h-Indol-3-Yl)-Pyrrole-2,5-Dione SB-409513 AR-AO-14418 Staurosporine Indirubin-3'-monoxime 6-bromoindirubin-3'-oxime Alsterpaullone Phosphoaminophosphonic Acid-Adenylate Ester 2-(1,3-benzodioxol-5-yl)-5-[(3-fluoro-4-methoxybenzyl)sulfanyl]-1,3,4-oxadiazole 5-[1-(4-methoxyphenyl)-1H-benzimidazol-6-yl]-1,3,4-oxadiazole-2(3H)-thione (7S)-2-(2-aminopyrimidin-4-yl)-7-(2-fluoroethyl)-1,5,6,7-tetrahydro-4H-pyrrolo[3,2-c]pyridin-4-one N-[2-(5-methyl-4H-1,2,4-triazol-3-yl)phenyl]-7H-pyrrolo[2,3-d]pyrimidin-4-amine 5-(5-chloro-7H-pyrrolo[2,3-d]pyrimidin-4-yl)-4,5,6,7-tetrahydro-1H-imidazo[4,5-c]pyridine 3-({[(3S)-3,4-dihydroxybutyl]oxy}amino)-1H,2'H-2,3'-biindol-2'-one N-[(1S)-2-amino-1-phenylethyl]-5-(1H-pyrrolo[2,3-b]pyridin-4-yl)thiophene-2-carboxamide 4-(4-CHLOROPHENYL)-4-[4-(1H-PYRAZOL-4-YL)PHENYL]PIPERIDINE ISOQUINOLINE-5-SULFONIC ACID (2-(2-(4-CHLOROBENZYLOXY)ETHYLAMINO)ETHYL)AMIDE (2S)-1-(1H-INDOL-3-YL)-3-{[5-(3-METHYL-1H-INDAZOL-5-YL)PYRIDIN-3-YL]OXY}PROPAN-2-AMINE Fostamatinib Tideglusib Lithium citrate Lithium succinate Lithium carbonate	Drugs 2	Diseases 1	Diseases 2 Alagille syndrome Hajdu-Cheney syndrome Type II diabetes mellitus
Novel	Symbols SGTA and C1QTNF6	Name 1 small glutamine rich tetratricopeptide repeat co-chaperone alpha	Name2 C1q and TNF related 6	Pathway 1 Insertion of tail-anchored proteins into the endoplasmic reticulum membrane Insertion of tail-anchored proteins into the endoplasmic reticulum membrane	Pathway 2	Drugs 1	Drugs 2	Diseases 1	Diseases 2
Novel	Symbols LIMS1 and ADAMTS9	Name 1 LIM zinc finger domain containing 1	Name2 ADAM metallopeptidase with thrombospondin type 1 motif 9	Pathway 1 Cell-extracellular matrix interactions Regulation of cytoskeletal remodeling and cell spreading by IPP complex components	Pathway 2 Degradation of the extracellular matrix Defective B3GALTL causes PpS O-glycosylation of TSR domain-containing proteins	Drugs 1	Drugs 2	Diseases 1	Diseases 2 Type II diabetes mellitus
Novel	Symbols OGT and CDKAL1	Name 1 O-linked N-acetylglucosamine (GlcNAc) transferase	Name2 CDKAL1 threonylcarbamoyladenosine tRNA methylthiotransferase	Pathway 1 HATs acetylate histones RIPK1-mediated regulated necrosis Regulation of necroptotic cell death UCH proteinases Formation of WDR5-containing histone-modifying complexes	Pathway 2 tRNA modification in the nucleus and cytosol	Drugs 1	Drugs 2	Diseases 1	Diseases 2 Type II diabetes mellitus
Novel	Symbols ENSA and ABCC8	Name 1 endosulfine alpha	Name2 ATP binding cassette subfamily C member 8	Pathway 1 MASTL Facilitates Mitotic Progression MASTL Facilitates Mitotic Progression	Pathway 2 ATP sensitive Potassium channels Regulation of insulin secretion Defective ABCC8 can cause hypo- and hyper-glycemias	Drugs 1	Drugs 2 ATP Glimepiride Chlorpropamide Nateglinide Tolazamide Repaglinide Glyburide Glipizide Gliclazide Tolbutamide Gliquidone Mitiglinide Glymidine	Diseases 1	Diseases 2 Permanent neonatal diabetes mellitus (PNDM) Transient neonatal diabetes mellitus (TNDM)
Novel	Symbols CSTB and CTSH	Name 1 cystatin B	Name2 cathepsin H	Pathway 1 Neutrophil degranulation	Pathway 2 MHC class II antigen presentation Surfactant metabolism Neutrophil degranulation	Drugs 1 Cupric Chloride	Drugs 2 N1-(1-Dimethylcarbamoyl-2-Phenyl-Ethyl)-2-Oxo-N4-(2-Pyridin-2-Yl-Ethyl)-Succinamide p-Toluenesulfonic acid N-[1-Hydroxycarboxyethyl-Carbonyl]Leucylamino-2-Methyl-Butane CARBOBENZYLOXY-(L)-LEUCINYL-(L)LEUCINYL METHOXYMETHYLKETONE	Diseases 1 Progressive myoclonic epilepsy (PME), including: Lafora disease (LBD); Unverricht-Lundborg disease (ULD); Neuronal ceroid lipofuscinoses (NCL); Type I sialidosis; Action myoclonus-renal failure syndrome (AMRF); Type III Gaucher disease (GD)	Diseases 2 Type I diabetes mellitus
Novel	Symbols CD4 and HLA-DQB1	Name 1 CD4 molecule	Name2 major histocompatibility complex, class II, DQ beta 1	Pathway 1 Alpha-defensins Nef Mediated CD4 Down-regulation Binding and entry of HIV virion Vpu mediated degradation of CD4 Downstream TCR signaling Phosphorylation of CD3 and TCR zeta chains Translocation of ZAP-70 to Immunological synapse Generation of second messenger molecules Co-inhibition by PD-1 Other interleukin signaling Cargo recognition for clathrin-mediated endocytosis Clathrin-mediated endocytosis	Pathway 2 Downstream TCR signaling Phosphorylation of CD3 and TCR zeta chains Translocation of ZAP-70 to Immunological synapse Generation of second messenger molecules MHC class II antigen presentation Co-inhibition by PD-1 Interferon gamma signaling	Drugs 1 Antithymocyte immunoglobulin (rabbit) Clenoliximab Ibalizumab	Drugs 2	Diseases 1	Diseases 2 Systemic lupus erythematosus Graves' disease Hashimoto's thyroiditis Asthma Dilated cardiomyopathy (DCM) Viral myocarditis Tuberculosis Type I diabetes mellitus
Novel	Symbols AVP and TXNDC17	Name 1 arginine vasopressin	Name2 thioredoxin domain containing 17	Pathway 1 BMAL1:CLOCK,NPAS2 activates circadian expression Vasopressin-like receptors G alpha (q) signalling events G alpha (s) signalling events Vasopressin regulates renal water homeostasis via Aquaporins Defective AVP does not bind AVPR1A,B and causes neurohypophyseal diabetes insipidus (NDI) Organic anion transport by SLCO transporters Cargo recognition for clathrin-mediated endocytosis Clathrin-mediated endocytosis Defective AVP does not bind AVPR2 and causes neurohypophyseal diabetes insipidus (NDI)	Pathway 2	Drugs 1	Drugs 2	Diseases 1 Neurohypophyseal diabetes insipidus (NPDI); Central Diabetes Insipidus	Diseases 2
Novel	Symbols AVP and AVPR1A	Name 1 arginine vasopressin	Name2 arginine vasopressin receptor 1A	Pathway 1 BMAL1:CLOCK,NPAS2 activates circadian expression Vasopressin-like receptors G alpha (q) signalling events G alpha (s) signalling events Vasopressin regulates renal water homeostasis via Aquaporins Defective AVP does not bind AVPR1A,B and causes neurohypophyseal diabetes insipidus (NDI) Organic anion transport by SLCO transporters Cargo recognition for clathrin-mediated endocytosis Clathrin-mediated endocytosis Defective AVP does not bind AVPR2 and causes neurohypophyseal diabetes insipidus (NDI)	Pathway 2 Vasopressin-like receptors G alpha (q) signalling events Defective AVP does not bind AVPR1A,B and causes neurohypophyseal diabetes insipidus (NDI)	Drugs 1	Drugs 2 Desmopressin Vasopressin Felypressin Conivaptan Terlipressin PH-284 Tolvaptan Atosiban Relcovaptan Lypressin Pecavaptan	Diseases 1 Neurohypophyseal diabetes insipidus (NPDI); Central Diabetes Insipidus	Diseases 2
Novel	Symbols RUNX1 and HLA-DRB1	Name 1 RUNX family transcription factor 1	Name2 major histocompatibility complex, class II, DR beta 1	Pathway 1 Pre-NOTCH Transcription and Translation SLC-mediated transport of organic cations RUNX1 and FOXP3 control the development of regulatory T lymphocytes (Tregs) RUNX1 regulates estrogen receptor mediated transcription Regulation of RUNX1 Expression and Activity Regulation of RUNX1 Expression and Activity 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 HSCs RUNX1 regulates transcription of genes involved in differentiation of HSCs RUNX1 regulates transcription of genes involved in differentiation of keratinocytes RUNX1 regulates transcription of genes involved in differentiation of keratinocytes RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known RUNX1 regulates transcription of genes involved in BCR signaling RUNX1 regulates transcription of genes involved in differentiation of myeloid cells RUNX1 regulates transcription of genes involved in interleukin signaling RUNX1 regulates transcription of genes involved in WNT signaling RUNX2 regulates genes involved in differentiation of myeloid cells RUNX3 regulates p14-ARF Estrogen-dependent gene expression Transcriptional regulation of granulopoiesis SARS-CoV-1 activates/modulates innate immune responses Differentiation of naive CD+ T cells to T helper 1 cells (Th1 cells)	Pathway 2 Downstream TCR signaling Phosphorylation of CD3 and TCR zeta chains Translocation of ZAP-70 to Immunological synapse Generation of second messenger molecules MHC class II antigen presentation Co-inhibition by PD-1 Interferon gamma signaling	Drugs 1	Drugs 2 1D09C3 Glatiramer Glatiramer Glatiramer Coccidioides immitis spherule	Diseases 1 Acute lymphoblastic leukemia (ALL) (precursor B lymphoblastic leukemia) Acute myeloid leukemia (AML) Chronic myeloid leukemia (CML) Thrombocytopenia (THC); Familial platelet disorder with associated myeloid malignancy (FPDMM)	Diseases 2 Systemic lupus erythematosus Graves' disease Hashimoto's thyroiditis Asthma Dilated cardiomyopathy (DCM) Tuberculosis Type I diabetes mellitus
Novel	Symbols NFYC and PAX4	Name 1 nuclear transcription factor Y subunit gamma	Name2 paired box 4	Pathway 1 PPARA activates gene expression Activation of gene expression by SREBF (SREBP) Activation of gene expression by SREBF (SREBP) ATF4 activates genes in response to endoplasmic reticulum stress ATF6 (ATF6-alpha) activates chaperone genes ATF6 (ATF6-alpha) activates chaperone genes FOXO-mediated transcription of cell death genes	Pathway 2	Drugs 1	Drugs 2	Diseases 1	Diseases 2
Novel	Symbols BPGM and CEL	Name 1 bisphosphoglycerate mutase	Name2 carboxyl ester lipase	Pathway 1 Glycolysis	Pathway 2 Digestion of dietary lipid Developmental Lineage of Pancreatic Acinar Cells	Drugs 1	Drugs 2 Taurocholic acid	Diseases 1 Anemia due to disorders of glycolytic enzymes, including: Hexokinase (HK) deficiency; Phosphoglycerate kinase 1 (PGK1) deficiency; Triose-phosphate isomerase (TPI) deficiency; Glucose phosphate isomerase (GPI) deficiency; Bisphosphoglycerate mutase (BPGM) deficiency	Diseases 2 Maturity onset diabetes of the young (MODY)
Novel	Symbols FLNC and SGCG	Name 1 filamin C	Name2 sarcoglycan gamma	Pathway 1 Cell-extracellular matrix interactions	Pathway 2 Formation of the dystrophin-glycoprotein complex (DGC) Formation of the dystrophin-glycoprotein complex (DGC)	Drugs 1	Drugs 2	Diseases 1 Myofibrillar myopathies (MFM), including: Desminopathy (MFM1); alpha-B Crystallinopathy (MFM2); Myotilinopathy (MFM3); Zaspopathy (MFM4); Filaminopathy (MFM5); Bag3opathy	Diseases 2 Limb-girdle muscular dystrophy (LGMD) Sarcoglycanopathies, including: Limb-girdle muscular dystrophy (LGMD) 2C; Limb-girdle muscular dystrophy (LGMD) 2D; Limb-girdle muscular dystrophy (LGMD) 2E; Limb-girdle muscular dystrophy (LGMD) 2F
Novel	Symbols FLNC and USP25	Name 1 filamin C	Name2 ubiquitin specific peptidase 25	Pathway 1 Cell-extracellular matrix interactions	Pathway 2 Ub-specific processing proteases	Drugs 1	Drugs 2	Diseases 1 Myofibrillar myopathies (MFM), including: Desminopathy (MFM1); alpha-B Crystallinopathy (MFM2); Myotilinopathy (MFM3); Zaspopathy (MFM4); Filaminopathy (MFM5); Bag3opathy	Diseases 2
Novel	Symbols FLNC and RPS6KA2	Name 1 filamin C	Name2 ribosomal protein S6 kinase A2	Pathway 1 Cell-extracellular matrix interactions	Pathway 2 ERK/MAPK targets CREB phosphorylation Senescence-Associated Secretory Phenotype (SASP) Senescence-Associated Secretory Phenotype (SASP) Recycling pathway of L1 CREB1 phosphorylation through NMDA receptor-mediated activation of RAS signaling RSK activation RSK activation Gastrin-CREB signalling pathway via PKC and MAPK	Drugs 1	Drugs 2	Diseases 1 Myofibrillar myopathies (MFM), including: Desminopathy (MFM1); alpha-B Crystallinopathy (MFM2); Myotilinopathy (MFM3); Zaspopathy (MFM4); Filaminopathy (MFM5); Bag3opathy	Diseases 2
Novel	Symbols FLNC and XIRP2	Name 1 filamin C	Name2 xin actin binding repeat containing 2	Pathway 1 Cell-extracellular matrix interactions	Pathway 2 Sensory processing of sound by inner hair cells of the cochlea Sensory processing of sound by outer hair cells of the cochlea	Drugs 1	Drugs 2	Diseases 1 Myofibrillar myopathies (MFM), including: Desminopathy (MFM1); alpha-B Crystallinopathy (MFM2); Myotilinopathy (MFM3); Zaspopathy (MFM4); Filaminopathy (MFM5); Bag3opathy	Diseases 2
Novel	Symbols FLNC and REPS1	Name 1 filamin C	Name2 RALBP1 associated Eps domain containing 1	Pathway 1 Cell-extracellular matrix interactions	Pathway 2 Cargo recognition for clathrin-mediated endocytosis Clathrin-mediated endocytosis	Drugs 1	Drugs 2	Diseases 1 Myofibrillar myopathies (MFM), including: Desminopathy (MFM1); alpha-B Crystallinopathy (MFM2); Myotilinopathy (MFM3); Zaspopathy (MFM4); Filaminopathy (MFM5); Bag3opathy	Diseases 2
Novel	Symbols ACTN2 and MYPN	Name 1 actinin alpha 2	Name2 myopalladin	Pathway 1 Platelet degranulation Nephrin family interactions Striated Muscle Contraction Unblocking of NMDA receptors, glutamate binding and activation Unblocking of NMDA receptors, glutamate binding and activation Ras activation upon Ca2+ influx through NMDA receptor RAF/MAP kinase cascade Assembly and cell surface presentation of NMDA receptors Negative regulation of NMDA receptor-mediated neuronal transmission Long-term potentiation	Pathway 2	Drugs 1	Drugs 2	Diseases 1	Diseases 2

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