DAR - Bologna Biocomputing Group

Search summary (Disease ID: MONDO:0010683)

Number of enzymes:	2
Number of disease:	1
Number of reactomes:	14
Number of reactions:	36

Search results (Disease ID: MONDO:0010683)

DiseaseID	Gene	UniProt	EC numbers	Reactomes	Expanded Reactomes	Reactome roots	Reactions
MONDO:0010683	MTM1	Q13496	3.1.3.64 3.1.3.95	R-HSA-1660499 R-HSA-1660499 Reactome Name: Synthesis of PIPs at the plasma membrane See in Reactome R-HSA-1660516 R-HSA-1660516 Reactome Name: Synthesis of PIPs at the early endosome membrane See in Reactome R-HSA-1660517 R-HSA-1660517 Reactome Name: Synthesis of PIPs at the late endosome membrane 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-1483257 R-HSA-1483257 Reactome Name: Phospholipid metabolism See in Reactome R-HSA-1483255 R-HSA-1483255 Reactome Name: PI Metabolism See in Reactome	Metabolism	R-HSA-1675795 ( R-HSA-1660517 ) R-HSA-1675795 Reaction Name: PI3P is dephosphorylated to PI by MTM proteins at the late endosome membrane See in Reactome R-HSA-1675994 ( R-HSA-1660499 ) R-HSA-1675994 Reaction Name: PI3P is dephosphorylated to PI by SYNJ/MTMs at the plasma membrane See in Reactome R-HSA-1676065 ( R-HSA-1660517 ) R-HSA-1676065 Reaction Name: PI(3,5)P2 is dephosphorylated to PI5P by MTM proteins at the late endosome membrane See in Reactome R-HSA-1676105 ( R-HSA-1660516 ) R-HSA-1676105 Reaction Name: PI(3,5)P2 is dephosphorylated to PI5P by MTM proteins at the early endosome membrane See in Reactome R-HSA-1676141 ( R-HSA-1660516 ) R-HSA-1676141 Reaction Name: PI3P is dephosphorylated to PI by MTM proteins at the early endosome membrane See in Reactome R-HSA-1676203 ( R-HSA-1660499 ) R-HSA-1676203 Reaction Name: PI(3,5)P2 is dephosphorylated to PI5P by SYNJ/MTMs at the plasma membrane See in Reactome R-HSA-6809680 ( R-HSA-1660516 ) R-HSA-6809680 Reaction Name: MTMR12 binds MTM1 See in Reactome R-HSA-6809720 ( R-HSA-1660516 ) R-HSA-6809720 Reaction Name: PI3P is dephosphorylated to PI by MTM1:MTMR12 See in Reactome
MONDO:0010683	DNM2	P50570	3.6.5.5	R-HSA-432720 R-HSA-432720 Reactome Name: Lysosome Vesicle Biogenesis See in Reactome R-HSA-8856828 R-HSA-8856828 Reactome Name: Clathrin-mediated endocytosis See in Reactome R-HSA-166016 R-HSA-166016 Reactome Name: Toll Like Receptor 4 (TLR4) Cascade See in Reactome R-HSA-9031628 R-HSA-9031628 Reactome Name: NGF-stimulated transcription See in Reactome R-HSA-437239 R-HSA-437239 Reactome Name: Recycling pathway of L1 See in Reactome R-HSA-190873 R-HSA-190873 Reactome Name: Gap junction degradation See in Reactome R-HSA-432722 R-HSA-432722 Reactome Name: Golgi Associated Vesicle Biogenesis See in Reactome R-HSA-196025 R-HSA-196025 Reactome Name: Formation of annular gap junctions See in Reactome R-HSA-203641 R-HSA-203641 Reactome Name: NOSTRIN mediated eNOS trafficking See in Reactome R-HSA-2132295 R-HSA-2132295 Reactome Name: MHC class II antigen presentation See in Reactome R-HSA-177504 R-HSA-177504 Reactome Name: Retrograde neurotrophin signalling See in Reactome	R-HSA-199991 R-HSA-199991 Reactome Name: Membrane Trafficking See in Reactome R-HSA-373760 R-HSA-373760 Reactome Name: L1CAM interactions See in Reactome R-HSA-166520 R-HSA-166520 Reactome Name: Signaling by NTRKs See in Reactome R-HSA-162582 R-HSA-162582 Reactome Name: Signal Transduction See in Reactome R-HSA-1430728 R-HSA-1430728 Reactome Name: Metabolism See in Reactome R-HSA-168249 R-HSA-168249 Reactome Name: Innate Immune System See in Reactome R-HSA-190828 R-HSA-190828 Reactome Name: Gap junction trafficking See in Reactome R-HSA-168256 R-HSA-168256 Reactome Name: Immune System See in Reactome R-HSA-9675108 R-HSA-9675108 Reactome Name: Nervous system development See in Reactome R-HSA-202131 R-HSA-202131 Reactome Name: Metabolism of nitric oxide: NOS3 activation and regulation See in Reactome R-HSA-168898 R-HSA-168898 Reactome Name: Toll-like Receptor Cascades See in Reactome R-HSA-199992 R-HSA-199992 Reactome Name: trans-Golgi Network Vesicle Budding See in Reactome R-HSA-198725 R-HSA-198725 Reactome Name: Nuclear Events (kinase and transcription factor activation) See in Reactome R-HSA-187037 R-HSA-187037 Reactome Name: Signaling by NTRK1 (TRKA) See in Reactome R-HSA-157858 R-HSA-157858 Reactome Name: Gap junction trafficking and regulation See in Reactome R-HSA-9006934 R-HSA-9006934 Reactome Name: Signaling by Receptor Tyrosine Kinases See in Reactome R-HSA-422475 R-HSA-422475 Reactome Name: Axon guidance See in Reactome R-HSA-1280218 R-HSA-1280218 Reactome Name: Adaptive Immune System See in Reactome R-HSA-1266738 R-HSA-1266738 Reactome Name: Developmental Biology See in Reactome R-HSA-5653656 R-HSA-5653656 Reactome Name: Vesicle-mediated transport See in Reactome	Signal Transduction Metabolism Immune System Developmental Biology Vesicle-mediated transport	R-HSA-177501 ( R-HSA-177504 ) R-HSA-177501 Reaction Name: Endocytosis (internalization) of clathrin-coated vesicle See in Reactome R-HSA-190519 ( R-HSA-190873 ) R-HSA-190519 Reaction Name: Internalization of gap junction plaques See in Reactome R-HSA-190829 ( R-HSA-190873 ) R-HSA-190829 Reaction Name: Lysosomal degradation of gap junction plaques See in Reactome R-HSA-196017 ( R-HSA-190873; R-HSA-196025 ) R-HSA-196017 Reaction Name: Dynamin is recruited to the gap junction plaque 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-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-2130619 ( R-HSA-2132295 ) R-HSA-2130619 Reaction Name: TGN-lysosomal vesicle coat assembly See in Reactome R-HSA-2130641 ( R-HSA-2132295 ) R-HSA-2130641 Reaction Name: Translocation of TGN-lysosome vesicle to lysosome See in Reactome R-HSA-2130725 ( R-HSA-2132295 ) R-HSA-2130725 Reaction Name: Internalization of MHC II:Ii clathrin coated vesicle See in Reactome R-HSA-2201293 ( R-HSA-166016 ) R-HSA-2201293 Reaction Name: Endocytosis of TLR4:LY96:LPS:CD14 See in Reactome R-HSA-421831 ( R-HSA-432722 ) R-HSA-421831 Reaction Name: trans-Golgi Network Coat Assembly See in Reactome R-HSA-421835 ( R-HSA-432722 ) R-HSA-421835 Reaction Name: trans-Golgi Network Vesicle Scission See in Reactome R-HSA-432706 ( R-HSA-432720 ) R-HSA-432706 Reaction Name: trans-Golgi Network Lysosome Vesicle Destined Membrane Coat Assembly See in Reactome R-HSA-432707 ( R-HSA-432720 ) R-HSA-432707 Reaction Name: trans-Golgi Network Lysosomal Vesicle Scission See in Reactome R-HSA-555065 ( R-HSA-437239 ) R-HSA-555065 Reaction Name: Formation of clathrin coated vesicle See in Reactome R-HSA-8868236 ( R-HSA-8856828 ) R-HSA-8868236 Reaction Name: BAR domain proteins recruit dynamin See in Reactome R-HSA-8868648 ( R-HSA-8856828 ) R-HSA-8868648 Reaction Name: SYNJ hydrolyze PI(4,5)P2 to PI(4)P See in Reactome R-HSA-8868651 ( R-HSA-8856828 ) R-HSA-8868651 Reaction Name: Endophilins recruit synaptojanins to the clathrin-coated pit See in Reactome R-HSA-8868658 ( R-HSA-8856828 ) R-HSA-8868658 Reaction Name: HSPA8-mediated ATP hydrolysis promotes vesicle uncoating See in Reactome R-HSA-8868659 ( R-HSA-8856828 ) R-HSA-8868659 Reaction Name: Clathrin recruits auxilins to the clathrin-coated vesicle See in Reactome R-HSA-8868660 ( R-HSA-8856828 ) R-HSA-8868660 Reaction Name: Auxilin recruits HSPA8:ATP to the clathrin-coated vesicle See in Reactome R-HSA-8868661 ( R-HSA-8856828 ) R-HSA-8868661 Reaction Name: Dynamin-mediated GTP hydrolysis promotes vesicle scission See in Reactome R-HSA-8869438 ( R-HSA-8856828 ) R-HSA-8869438 Reaction Name: Dissociation of clathrin-associated proteins See in Reactome R-HSA-8871193 ( R-HSA-8856828 ) R-HSA-8871193 Reaction Name: Dissociation of AAK1 and dephosphorylation of AP-2 mu2 See in Reactome R-HSA-8871194 ( R-HSA-8856828 ) R-HSA-8871194 Reaction Name: RAB5 and GAPVD1 bind AP-2 See in Reactome R-HSA-8951498 ( R-HSA-2132295 ) R-HSA-8951498 Reaction Name: Dissociation of Arf1:GDP, AP-1 Clathrin coated nonameric complex See in Reactome R-HSA-9619838 ( R-HSA-9031628 ) R-HSA-9619838 Reaction Name: ARC binds DNM2 and SH3GL3 See in Reactome