DAR - Bologna Biocomputing Group

Search summary (Disease ID: MONDO:0005387)

Number of enzymes:	9
Number of disease:	1
Number of reactomes:	20
Number of reactions:	81

Search results (Disease ID: MONDO:0005387)

DiseaseID	Gene	UniProt	EC numbers	Reactomes	Expanded Reactomes	Reactome roots	Reactions
MONDO:0005387	NOS3	P29474	1.14.13.39	R-HSA-1222556 R-HSA-1222556 Reactome Name: ROS and RNS production in phagocytes See in Reactome R-HSA-203754 R-HSA-203754 Reactome Name: NOSIP mediated eNOS trafficking See in Reactome R-HSA-392154 R-HSA-392154 Reactome Name: Nitric oxide stimulates guanylate cyclase See in Reactome R-HSA-203615 R-HSA-203615 Reactome Name: eNOS activation See in Reactome R-HSA-203641 R-HSA-203641 Reactome Name: NOSTRIN mediated eNOS trafficking See in Reactome R-HSA-1474151 R-HSA-1474151 Reactome Name: Tetrahydrobiopterin (BH4) synthesis, recycling, salvage and regulation See in Reactome R-HSA-9009391 R-HSA-9009391 Reactome Name: Extra-nuclear estrogen signaling See in Reactome R-HSA-5218920 R-HSA-5218920 Reactome Name: VEGFR2 mediated vascular permeability See in Reactome	R-HSA-4420097 R-HSA-4420097 Reactome Name: VEGFA-VEGFR2 Pathway See in Reactome R-HSA-8978934 R-HSA-8978934 Reactome Name: Metabolism of cofactors See in Reactome R-HSA-194138 R-HSA-194138 Reactome Name: Signaling by VEGF See in Reactome R-HSA-196854 R-HSA-196854 Reactome Name: Metabolism of vitamins and cofactors See in Reactome R-HSA-168256 R-HSA-168256 Reactome Name: Immune System See in Reactome R-HSA-202131 R-HSA-202131 Reactome Name: Metabolism of nitric oxide: NOS3 activation and regulation See in Reactome R-HSA-9006931 R-HSA-9006931 Reactome Name: Signaling by Nuclear Receptors See in Reactome R-HSA-1430728 R-HSA-1430728 Reactome Name: Metabolism See in Reactome R-HSA-418346 R-HSA-418346 Reactome Name: Platelet homeostasis See in Reactome R-HSA-9006934 R-HSA-9006934 Reactome Name: Signaling by Receptor Tyrosine Kinases See in Reactome R-HSA-8939211 R-HSA-8939211 Reactome Name: ESR-mediated signaling See in Reactome R-HSA-168249 R-HSA-168249 Reactome Name: Innate Immune System See in Reactome R-HSA-109582 R-HSA-109582 Reactome Name: Hemostasis See in Reactome R-HSA-162582 R-HSA-162582 Reactome Name: Signal Transduction See in Reactome	Immune System Metabolism Hemostasis Signal Transduction	R-HSA-1497784 ( R-HSA-1474151; R-HSA-203615; R-HSA-4420097; R-HSA-5218920 ) R-HSA-1497784 Reaction Name: The cofactor BH4 is required for electron transfer in the eNOS catalytic cycle See in Reactome R-HSA-1497796 ( R-HSA-1474151; R-HSA-203615 ) R-HSA-1497796 Reaction Name: BH2 binding can lead to eNOS uncoupling See in Reactome R-HSA-1497810 ( R-HSA-203615 ) R-HSA-1497810 Reaction Name: Uncoupled eNOS favours the formation of superoxide See in Reactome R-HSA-202110 ( R-HSA-203615; R-HSA-4420097; R-HSA-5218920 ) R-HSA-202110 Reaction Name: eNOS:Caveolin-1 complex binds to CaM See in Reactome R-HSA-202111 ( R-HSA-203615; R-HSA-4420097; R-HSA-5218920 ) R-HSA-202111 Reaction Name: AKT1 phosphorylates eNOS See in Reactome R-HSA-202127 ( R-HSA-203615; R-HSA-4420097; R-HSA-5218920; R-HSA-9009391 ) R-HSA-202127 Reaction Name: eNOS synthesizes NO See in Reactome R-HSA-202129 ( R-HSA-203615; R-HSA-4420097; R-HSA-5218920 ) R-HSA-202129 Reaction Name: HSP90 binds eNOS:Caveolin-1:CaM complex See in Reactome R-HSA-202132 ( R-HSA-203615 ) R-HSA-202132 Reaction Name: depalmitoylated eNOS translocates from plasma membrane See in Reactome R-HSA-202137 ( R-HSA-203615; R-HSA-4420097; R-HSA-5218920 ) R-HSA-202137 Reaction Name: AKT1 binds eNOS complex via HSP90 See in Reactome R-HSA-202144 ( R-HSA-203615; R-HSA-4420097; R-HSA-5218920 ) R-HSA-202144 Reaction Name: Caveolin-1 dissociates from eNOS:CaM:HSP90 complex See in Reactome R-HSA-203553 ( R-HSA-203754 ) R-HSA-203553 Reaction Name: eNOS binds NOSIP See in Reactome R-HSA-203565 ( R-HSA-203641 ) R-HSA-203565 Reaction Name: eNOS:Caveolin-1:NOSTRIN:dynamin-2 complex binds N-WASP See in Reactome R-HSA-203567 ( R-HSA-203615 ) R-HSA-203567 Reaction Name: palmitoylation of eNOS See in Reactome R-HSA-203611 ( R-HSA-203615 ) R-HSA-203611 Reaction Name: N-myristoylation of eNOS See in Reactome R-HSA-203613 ( R-HSA-203615 ) R-HSA-203613 Reaction Name: depalmitoylation of eNOS See in Reactome R-HSA-203625 ( R-HSA-203641 ) R-HSA-203625 Reaction Name: NOSTRIN mediated translocation of eNOS from plasma membrane See in Reactome R-HSA-203662 ( R-HSA-203641 ) R-HSA-203662 Reaction Name: eNOS:Caveolin-1:NOSTRIN complex binds dynamin-2 See in Reactome R-HSA-203680 ( R-HSA-203754 ) R-HSA-203680 Reaction Name: eNOS:NOSIP translocation from caveolae to intracellular compartments See in Reactome R-HSA-203700 ( R-HSA-203615 ) R-HSA-203700 Reaction Name: eNOS translocation from Golgi to Caveolae See in Reactome R-HSA-203712 ( R-HSA-203615 ) R-HSA-203712 Reaction Name: eNOS associates with Caveolin-1 See in Reactome R-HSA-203716 ( R-HSA-203641 ) R-HSA-203716 Reaction Name: eNOS:Caveolin-1 complex binds to Nostrin See in Reactome R-HSA-418436 ( R-HSA-1222556; R-HSA-392154 ) R-HSA-418436 Reaction Name: Nitric Oxide Synthase (NOS) produces Nitric Oxide (NO) See in Reactome
MONDO:0005387	POLG	P54098	2.7.7.7
MONDO:0005387	KDR	P35968	2.7.10.1	R-HSA-216083 R-HSA-216083 Reactome Name: Integrin cell surface interactions See in Reactome R-HSA-4420097 R-HSA-4420097 Reactome Name: VEGFA-VEGFR2 Pathway See in Reactome R-HSA-195399 R-HSA-195399 Reactome Name: VEGF binds to VEGFR leading to receptor dimerization See in Reactome R-HSA-5218921 R-HSA-5218921 Reactome Name: VEGFR2 mediated cell proliferation See in Reactome R-HSA-194306 R-HSA-194306 Reactome Name: Neurophilin interactions with VEGF and VEGFR See in Reactome	R-HSA-194138 R-HSA-194138 Reactome Name: Signaling by VEGF See in Reactome R-HSA-194313 R-HSA-194313 Reactome Name: VEGF ligand-receptor interactions See in Reactome R-HSA-9006934 R-HSA-9006934 Reactome Name: Signaling by Receptor Tyrosine Kinases See in Reactome R-HSA-1474244 R-HSA-1474244 Reactome Name: Extracellular matrix organization See in Reactome R-HSA-162582 R-HSA-162582 Reactome Name: Signal Transduction See in Reactome	Extracellular matrix organization Signal Transduction	R-HSA-194310 ( R-HSA-195399 ) R-HSA-194310 Reaction Name: VEGF-A,C,D bind to VEGFR2 leading to receptor dimerization See in Reactome R-HSA-195408 ( R-HSA-194306 ) R-HSA-195408 Reaction Name: NRP-1 forms a ternary complex with VEGF165 and VEGFR1 See in Reactome R-HSA-3928647 ( R-HSA-4420097 ) R-HSA-3928647 Reaction Name: RHOA:GTP:Mg2+ binds ROCK1,ROCK2 See in Reactome R-HSA-4088281 ( R-HSA-216083 ) R-HSA-4088281 Reaction Name: Endorepellin binds KDR (VEGFR2) See in Reactome R-HSA-4420083 ( R-HSA-4420097 ) R-HSA-4420083 Reaction Name: PTK2 binds p-S-SHB and is recruited to p-6Y-VEGFR2 See in Reactome R-HSA-4420099 ( R-HSA-4420097 ) R-HSA-4420099 Reaction Name: p-6Y-VEGFR2 binds SHB See in Reactome R-HSA-4420107 ( R-HSA-4420097 ) R-HSA-4420107 Reaction Name: p-6Y-VEGFR2 binds SHC-transforming protein 2 See in Reactome R-HSA-4420117 ( R-HSA-4420097 ) R-HSA-4420117 Reaction Name: VEGFR2 autophosphorylates See in Reactome R-HSA-4420121 ( R-HSA-4420097; R-HSA-5218921 ) R-HSA-4420121 Reaction Name: SFKs phosphorylate PLCG1 See in Reactome R-HSA-4420128 ( R-HSA-4420097 ) R-HSA-4420128 Reaction Name: SRC-1 phosphorylates SHB See in Reactome R-HSA-4420140 ( R-HSA-4420097 ) R-HSA-4420140 Reaction Name: SRC1-1 binds SH2D2A and is recruited to VEGFR2 See in Reactome R-HSA-4420143 ( R-HSA-4420097 ) R-HSA-4420143 Reaction Name: p-6Y-VEGFR2 binds SH2D2A See in Reactome R-HSA-4420153 ( R-HSA-4420097; R-HSA-5218921 ) R-HSA-4420153 Reaction Name: p-6Y-VEGFR2 binds PLCG1 See in Reactome R-HSA-4420202 ( R-HSA-4420097; R-HSA-5218921 ) R-HSA-4420202 Reaction Name: PLCG1 disassociates from VEGFR2 and translocate to PM See in Reactome R-HSA-4420206 ( R-HSA-4420097 ) R-HSA-4420206 Reaction Name: Phosphorylation of SRC-1 See in Reactome R-HSA-5218640 ( R-HSA-4420097 ) R-HSA-5218640 Reaction Name: SRC-1 phosphorylates p-Y397-PTK2 See in Reactome R-HSA-5218642 ( R-HSA-4420097 ) R-HSA-5218642 Reaction Name: PTK2 autophosphorylates See in Reactome R-HSA-5218643 ( R-HSA-4420097 ) R-HSA-5218643 Reaction Name: HSP90AA1 binds p-6Y-VEGFR2 See in Reactome R-HSA-5218645 ( R-HSA-4420097 ) R-HSA-5218645 Reaction Name: SRC-1 binds p-Y397-PTK2 See in Reactome R-HSA-5218804 ( R-HSA-4420097 ) R-HSA-5218804 Reaction Name: p38 MAPK activation by VEGFR See in Reactome R-HSA-5218806 ( R-HSA-4420097 ) R-HSA-5218806 Reaction Name: FYN autophosphorylates See in Reactome R-HSA-5218809 ( R-HSA-4420097 ) R-HSA-5218809 Reaction Name: PTK2 and SRC-1 phosphorylate PXN on Y31 and Y118 See in Reactome R-HSA-5218811 ( R-HSA-4420097 ) R-HSA-5218811 Reaction Name: DOCK180:ELMO binds CRK See in Reactome R-HSA-5218812 ( R-HSA-4420097 ) R-HSA-5218812 Reaction Name: FYN phosphorylates PAK2 See in Reactome R-HSA-5218814 ( R-HSA-4420097 ) R-HSA-5218814 Reaction Name: PAK2 autophorylates See in Reactome R-HSA-5218815 ( R-HSA-4420097 ) R-HSA-5218815 Reaction Name: p-6Y-VEGFR2 binds NCK See in Reactome R-HSA-5218818 ( R-HSA-4420097 ) R-HSA-5218818 Reaction Name: Integrin alphaVbeta3 binds p-6Y-VEGFR2 See in Reactome R-HSA-5218819 ( R-HSA-4420097 ) R-HSA-5218819 Reaction Name: VEGFA dimer:p-6Y-VEGFR2 dimer:PI3K phosphorylates PIP2 to PIP3 See in Reactome R-HSA-5218820 ( R-HSA-4420097 ) R-HSA-5218820 Reaction Name: Src kinases phosphorylate VAV See in Reactome R-HSA-5218822 ( R-HSA-4420097 ) R-HSA-5218822 Reaction Name: CRK binds BCAR1 and or PXN See in Reactome R-HSA-5218824 ( R-HSA-4420097 ) R-HSA-5218824 Reaction Name: p-6Y-VEGFR2 binds FYN See in Reactome R-HSA-5218826 ( R-HSA-4420097 ) R-HSA-5218826 Reaction Name: Active ROCK1,ROCK2 phosphorylates p-5Y-PTK2 on S732 See in Reactome R-HSA-5218828 ( R-HSA-4420097 ) R-HSA-5218828 Reaction Name: PTK2/SRC-1 phosphorylates BCAR1 See in Reactome R-HSA-5218830 ( R-HSA-4420097 ) R-HSA-5218830 Reaction Name: SRC-1 phosphorylates PTK2-beta See in Reactome R-HSA-5218832 ( R-HSA-4420097 ) R-HSA-5218832 Reaction Name: CDC42:GTP binds PAK2 See in Reactome R-HSA-5218836 ( R-HSA-4420097 ) R-HSA-5218836 Reaction Name: PTK2beta binds alphaVbeta3 See in Reactome R-HSA-5218838 ( R-HSA-4420097 ) R-HSA-5218838 Reaction Name: PXN binds p-6Y,S732-PTK2 See in Reactome R-HSA-5218839 ( R-HSA-4420097 ) R-HSA-5218839 Reaction Name: DOCK180:ELMO exchanges GTP for GDP, activating RAC1 See in Reactome R-HSA-5218847 ( R-HSA-4420097 ) R-HSA-5218847 Reaction Name: PAK2 binds NCK See in Reactome R-HSA-5218851 ( R-HSA-4420097 ) R-HSA-5218851 Reaction Name: p-Y402-PTK2B phosphorylates p-5Y,S732-PTK2 on Y407 See in Reactome R-HSA-5218852 ( R-HSA-4420097 ) R-HSA-5218852 Reaction Name: p-6Y-VEGFR2 binds PI3K See in Reactome R-HSA-5218854 ( R-HSA-4420097 ) R-HSA-5218854 Reaction Name: p-Y420-FYN is phosphorylated on S21 See in Reactome R-HSA-5218855 ( R-HSA-4420097 ) R-HSA-5218855 Reaction Name: BCAR1 binds p-7Y-PTK2 See in Reactome R-HSA-5357429 ( R-HSA-4420097 ) R-HSA-5357429 Reaction Name: AXL autophosphorylates on Y772 and Y814 See in Reactome R-HSA-5357432 ( R-HSA-4420097 ) R-HSA-5357432 Reaction Name: AXL binds SRC-1 See in Reactome R-HSA-5357479 ( R-HSA-4420097 ) R-HSA-5357479 Reaction Name: p-AXL binds PI3K See in Reactome R-HSA-9691215 ( R-HSA-4420097 ) R-HSA-9691215 Reaction Name: VEGFA-165 dimer binds VEGFR2 dimer See in Reactome
MONDO:0005387	SIRT6	Q8N6T7	2.3.1.286	R-HSA-1912408 R-HSA-1912408 Reactome Name: Pre-NOTCH Transcription and Translation See in Reactome R-HSA-5693607 R-HSA-5693607 Reactome Name: Processing of DNA double-strand break ends See in Reactome	R-HSA-5693567 R-HSA-5693567 Reactome Name: HDR through Homologous Recombination (HRR) or Single Strand Annealing (SSA) See in Reactome R-HSA-157118 R-HSA-157118 Reactome Name: Signaling by NOTCH See in Reactome R-HSA-5693538 R-HSA-5693538 Reactome Name: Homology Directed Repair See in Reactome R-HSA-73894 R-HSA-73894 Reactome Name: DNA Repair See in Reactome R-HSA-1912422 R-HSA-1912422 Reactome Name: Pre-NOTCH Expression and Processing See in Reactome R-HSA-5693532 R-HSA-5693532 Reactome Name: DNA Double-Strand Break Repair See in Reactome R-HSA-162582 R-HSA-162582 Reactome Name: Signal Transduction See in Reactome	DNA Repair Signal Transduction	R-HSA-5685953 ( R-HSA-5693607 ) R-HSA-5685953 Reaction Name: SIRT6 deacetylates RBBP8 See in Reactome R-HSA-9604829 ( R-HSA-1912408 ) R-HSA-9604829 Reaction Name: SIRT6 deacetylates histones at NOTCH1 and NOTCH4 gene promoters See in Reactome R-HSA-9604831 ( R-HSA-1912408 ) R-HSA-9604831 Reaction Name: NOTCH1 and NOTCH4 gene transcription is inhibited by SIRT6 See in Reactome R-HSA-9604834 ( R-HSA-1912408 ) R-HSA-9604834 Reaction Name: SIRT6 binds to acetylated histones at NOTCH1 and NOTCH4 gene promoters See in Reactome
MONDO:0005387	CYP17A1	P05093	1.14.14.32 1.14.14.19	R-HSA-193048 R-HSA-193048 Reactome Name: Androgen biosynthesis See in Reactome R-HSA-194002 R-HSA-194002 Reactome Name: Glucocorticoid biosynthesis See in Reactome	R-HSA-556833 R-HSA-556833 Reactome Name: Metabolism of lipids See in Reactome R-HSA-1430728 R-HSA-1430728 Reactome Name: Metabolism See in Reactome R-HSA-196071 R-HSA-196071 Reactome Name: Metabolism of steroid hormones See in Reactome R-HSA-8957322 R-HSA-8957322 Reactome Name: Metabolism of steroids See in Reactome	Metabolism	R-HSA-193068 ( R-HSA-193048; R-HSA-194002 ) R-HSA-193068 Reaction Name: CYP17A1 17-hydroxylates PREG See in Reactome R-HSA-193070 ( R-HSA-193048 ) R-HSA-193070 Reaction Name: CYP17A1 cleaves 17aHPREG to DHA See in Reactome R-HSA-193072 ( R-HSA-193048 ) R-HSA-193072 Reaction Name: CYP17A1 17-hydroxylates P4 to 17aHPROG See in Reactome R-HSA-193099 ( R-HSA-193048 ) R-HSA-193099 Reaction Name: CYP17A1 cleaves 17aHPROG to ANDST See in Reactome
MONDO:0005387	ADAMTS1	Q9UHI8	3.4.24.-	R-HSA-1474228 R-HSA-1474228 Reactome Name: Degradation of the extracellular matrix See in Reactome R-HSA-5173214 R-HSA-5173214 Reactome Name: O-glycosylation of TSR domain-containing proteins See in Reactome	R-HSA-597592 R-HSA-597592 Reactome Name: Post-translational protein modification See in Reactome R-HSA-1474244 R-HSA-1474244 Reactome Name: Extracellular matrix organization See in Reactome R-HSA-392499 R-HSA-392499 Reactome Name: Metabolism of proteins See in Reactome R-HSA-5173105 R-HSA-5173105 Reactome Name: O-linked glycosylation See in Reactome	Extracellular matrix organization Metabolism of proteins	R-HSA-1592310 ( R-HSA-1474228 ) R-HSA-1592310 Reaction Name: Aggrecan degradation by ADAMTSs See in Reactome R-HSA-5173005 ( R-HSA-5173214 ) R-HSA-5173005 Reaction Name: B3GALTL transfers glucose to O-fucosyl-proteins See in Reactome R-HSA-5173192 ( R-HSA-5173214 ) R-HSA-5173192 Reaction Name: POFUT2 transfers fucose to TSR domain-containing proteins See in Reactome
MONDO:0005387	RAD54L	Q92698	3.6.4.12
MONDO:0005387	ADAMTS6	Q9UKP5	3.4.24.-	R-HSA-5173214 R-HSA-5173214 Reactome Name: O-glycosylation of TSR domain-containing proteins See in Reactome	R-HSA-597592 R-HSA-597592 Reactome Name: Post-translational protein modification See in Reactome R-HSA-392499 R-HSA-392499 Reactome Name: Metabolism of proteins See in Reactome R-HSA-5173105 R-HSA-5173105 Reactome Name: O-linked glycosylation See in Reactome	Metabolism of proteins	R-HSA-5173005 ( R-HSA-5173214 ) R-HSA-5173005 Reaction Name: B3GALTL transfers glucose to O-fucosyl-proteins See in Reactome R-HSA-5173192 ( R-HSA-5173214 ) R-HSA-5173192 Reaction Name: POFUT2 transfers fucose to TSR domain-containing proteins See in Reactome
MONDO:0005387	PMM2	O15305	5.4.2.8	R-HSA-446205 R-HSA-446205 Reactome Name: Synthesis of GDP-mannose See in Reactome	R-HSA-446203 R-HSA-446203 Reactome Name: Asparagine N-linked glycosylation See in Reactome R-HSA-446219 R-HSA-446219 Reactome Name: Synthesis of substrates in N-glycan biosythesis See in Reactome R-HSA-446193 R-HSA-446193 Reactome Name: Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein See in Reactome R-HSA-392499 R-HSA-392499 Reactome Name: Metabolism of proteins See in Reactome R-HSA-597592 R-HSA-597592 Reactome Name: Post-translational protein modification See in Reactome	Metabolism of proteins	R-HSA-446201 ( R-HSA-446205 ) R-HSA-446201 Reaction Name: PMM1,2 isomerise Man6P to Man1P See in Reactome