DAR - Bologna Biocomputing Group

Search summary (Disease ID: MONDO:0007088)

Number of enzymes:	3
Number of disease:	1
Number of reactomes:	24
Number of reactions:	42

Search results (Disease ID: MONDO:0007088)

DiseaseID	Gene	UniProt	EC numbers	Reactomes	Expanded Reactomes	Reactome roots	Reactions
MONDO:0007088	CSF1R	P07333	2.7.10.1	R-HSA-449836 R-HSA-449836 Reactome Name: Other interleukin signaling See in Reactome R-HSA-8853884 R-HSA-8853884 Reactome Name: Transcriptional Regulation by VENTX See in Reactome	R-HSA-449147 R-HSA-449147 Reactome Name: Signaling by Interleukins See in Reactome R-HSA-212436 R-HSA-212436 Reactome Name: Generic Transcription Pathway See in Reactome R-HSA-74160 R-HSA-74160 Reactome Name: Gene expression (Transcription) See in Reactome R-HSA-168256 R-HSA-168256 Reactome Name: Immune System See in Reactome R-HSA-1280215 R-HSA-1280215 Reactome Name: Cytokine Signaling in Immune system See in Reactome R-HSA-73857 R-HSA-73857 Reactome Name: RNA Polymerase II Transcription See in Reactome	Gene expression (Transcription) Immune System	R-HSA-6787820 ( R-HSA-449836 ) R-HSA-6787820 Reaction Name: IL34 dimer binds CSF1R See in Reactome R-HSA-8853908 ( R-HSA-8853884 ) R-HSA-8853908 Reaction Name: VENTX stimulates CSF1R (M-CSF-R) expression See in Reactome R-HSA-9009485 ( R-HSA-449836 ) R-HSA-9009485 Reaction Name: IL34:CSF1 binds CSF1R See in Reactome R-HSA-9009554 ( R-HSA-449836 ) R-HSA-9009554 Reaction Name: IL34 dimer:SDC1 binds CSF1R See in Reactome
MONDO:0007088	VCP	P55072	3.6.4.6	R-HSA-3371511 R-HSA-3371511 Reactome Name: HSF1 activation See in Reactome R-HSA-9646399 R-HSA-9646399 Reactome Name: Aggrephagy See in Reactome R-HSA-110320 R-HSA-110320 Reactome Name: Translesion Synthesis by POLH See in Reactome R-HSA-382556 R-HSA-382556 Reactome Name: ABC-family proteins mediated transport See in Reactome R-HSA-5689896 R-HSA-5689896 Reactome Name: Ovarian tumor domain proteases See in Reactome R-HSA-5358346 R-HSA-5358346 Reactome Name: Hedgehog ligand biogenesis See in Reactome R-HSA-9013407 R-HSA-9013407 Reactome Name: RHOH GTPase cycle See in Reactome R-HSA-532668 R-HSA-532668 Reactome Name: N-glycan trimming in the ER and Calnexin/Calreticulin cycle See in Reactome R-HSA-6798695 R-HSA-6798695 Reactome Name: Neutrophil degranulation See in Reactome R-HSA-8876725 R-HSA-8876725 Reactome Name: Protein methylation See in Reactome R-HSA-8866654 R-HSA-8866654 Reactome Name: E3 ubiquitin ligases ubiquitinate target proteins See in Reactome R-HSA-5689877 R-HSA-5689877 Reactome Name: Josephin domain DUBs See in Reactome	R-HSA-597592 R-HSA-597592 Reactome Name: Post-translational protein modification See in Reactome R-HSA-9012999 R-HSA-9012999 Reactome Name: RHO GTPase cycle See in Reactome R-HSA-168256 R-HSA-168256 Reactome Name: Immune System See in Reactome R-HSA-194315 R-HSA-194315 Reactome Name: Signaling by Rho GTPases See in Reactome R-HSA-382551 R-HSA-382551 Reactome Name: Transport of small molecules See in Reactome R-HSA-5358351 R-HSA-5358351 Reactome Name: Signaling by Hedgehog See in Reactome R-HSA-8953897 R-HSA-8953897 Reactome Name: Cellular responses to stimuli See in Reactome R-HSA-2262752 R-HSA-2262752 Reactome Name: Cellular responses to stress See in Reactome R-HSA-446203 R-HSA-446203 Reactome Name: Asparagine N-linked glycosylation See in Reactome R-HSA-9612973 R-HSA-9612973 Reactome Name: Autophagy See in Reactome R-HSA-168249 R-HSA-168249 Reactome Name: Innate Immune System See in Reactome R-HSA-9663891 R-HSA-9663891 Reactome Name: Selective autophagy See in Reactome R-HSA-392499 R-HSA-392499 Reactome Name: Metabolism of proteins See in Reactome R-HSA-110313 R-HSA-110313 Reactome Name: Translesion synthesis by Y family DNA polymerases bypasses lesions on DNA template See in Reactome R-HSA-8852135 R-HSA-8852135 Reactome Name: Protein ubiquitination See in Reactome R-HSA-1632852 R-HSA-1632852 Reactome Name: Macroautophagy See in Reactome R-HSA-5688426 R-HSA-5688426 Reactome Name: Deubiquitination See in Reactome R-HSA-3371556 R-HSA-3371556 Reactome Name: Cellular response to heat stress See in Reactome R-HSA-73894 R-HSA-73894 Reactome Name: DNA Repair See in Reactome R-HSA-9716542 R-HSA-9716542 Reactome Name: Signaling by Rho GTPases, Miro GTPases and RHOBTB3 See in Reactome R-HSA-162582 R-HSA-162582 Reactome Name: Signal Transduction See in Reactome R-HSA-73893 R-HSA-73893 Reactome Name: DNA Damage Bypass See in Reactome	Immune System Transport of small molecules Cellular responses to stimuli Autophagy Metabolism of proteins DNA Repair Signal Transduction	R-HSA-5324632 ( R-HSA-3371511 ) R-HSA-5324632 Reaction Name: Dissociation of cytosolic HSF1:HSP90:HDAC6:PTGES3 upon sensing protein aggregates See in Reactome R-HSA-5362412 ( R-HSA-5358346 ) R-HSA-5362412 Reaction Name: SYVN1 ubiquitinates Hh C-terminal fragments See in Reactome R-HSA-5362441 ( R-HSA-5358346 ) R-HSA-5362441 Reaction Name: C-terminal Hh fragments are recruited to SEL1:SYVN1 at the ER membrane See in Reactome R-HSA-5362459 ( R-HSA-5358346 ) R-HSA-5362459 Reaction Name: VCP-catalyzed ATP hydrolysis promotes the translocation of Hh-C into the cytosol See in Reactome R-HSA-5654985 ( R-HSA-110320 ) R-HSA-5654985 Reaction Name: SPRTN recruits VCP to monoUb:K164-PCNA associated with POLH See in Reactome R-HSA-5654989 ( R-HSA-110320 ) R-HSA-5654989 Reaction Name: SPRTN:VCP-mediated release of POLH from monoUb:K164-PCNA See in Reactome R-HSA-5688834 ( R-HSA-5689877 ) R-HSA-5688834 Reaction Name: ATXN3 binds VCP See in Reactome R-HSA-6781953 ( R-HSA-5689896 ) R-HSA-6781953 Reaction Name: YOD1 binds VCP See in Reactome R-HSA-6798748 ( R-HSA-6798695 ) R-HSA-6798748 Reaction Name: Exocytosis of secretory granule lumen proteins See in Reactome R-HSA-6798751 ( R-HSA-6798695 ) R-HSA-6798751 Reaction Name: Exocytosis of azurophil granule lumen proteins See in Reactome R-HSA-6800434 ( R-HSA-6798695 ) R-HSA-6800434 Reaction Name: Exocytosis of ficolin-rich granule lumen proteins See in Reactome R-HSA-8850594 ( R-HSA-532668 ) R-HSA-8850594 Reaction Name: Deglycosylation complex hydrolyses N-glycans from unfolded glycoproteins See in Reactome R-HSA-8866542 ( R-HSA-382556 ) R-HSA-8866542 Reaction Name: VCP-catalyzed ATP hydrolysis promotes the translocation of misfolded CFTR into the cytosol See in Reactome R-HSA-8866546 ( R-HSA-382556 ) R-HSA-8866546 Reaction Name: RNF5 and RNF185 ubiquitinate misfolded CFTR See in Reactome R-HSA-8866551 ( R-HSA-382556 ) R-HSA-8866551 Reaction Name: CFTR binds components of the ERAD machinery for ubiquitination and degradation See in Reactome R-HSA-8932276 ( R-HSA-8876725 ) R-HSA-8932276 Reaction Name: VCPKMT (METTL21D) transfers 3xCH3 from 3xAdoMet to VCP See in Reactome R-HSA-8943080 ( R-HSA-8866654 ) R-HSA-8943080 Reaction Name: TMEM129 polyubiquitinates HLA (MHC class I heavy chain) bound to cytomegalovirus US11 See in Reactome R-HSA-8943083 ( R-HSA-8866654 ) R-HSA-8943083 Reaction Name: US11:HLA binds DERL1:TMEM129:Ub:UBE2J2,UBE2K:VIMP:VCP See in Reactome R-HSA-9018758 ( R-HSA-9013407 ) R-HSA-9018758 Reaction Name: RHOH binds effectors at the plasma membrane See in Reactome R-HSA-9646347 ( R-HSA-9646399 ) R-HSA-9646347 Reaction Name: PolyUb-misfolded proteins bind VCP:HDAC6:HSP90:HSF1 See in Reactome R-HSA-9646354 ( R-HSA-9646399 ) R-HSA-9646354 Reaction Name: PolyUb-Misfolded Proteins:HDAC6 dissociate from complex See in Reactome R-HSA-9755507 () R-HSA-9755507 Reaction Name: UBXN7:UBF1:NPLOC4:VCP hexamer binds NFE2L2:CRL3 complex See in Reactome R-HSA-9758088 () R-HSA-9758088 Reaction Name: UBXN7 binds VCP hexamer:UBF1:NPLOC4 See in Reactome R-HSA-9758090 () R-HSA-9758090 Reaction Name: Ubiquitinated NFE2L2 is extracted from CRL3 complex for degradation See in Reactome
MONDO:0007088	PSEN1	P49768	3.4.23.-	R-HSA-9013507 R-HSA-9013507 Reactome Name: NOTCH3 Activation and Transmission of Signal to the Nucleus See in Reactome R-HSA-193692 R-HSA-193692 Reactome Name: Regulated proteolysis of p75NTR See in Reactome R-HSA-3928665 R-HSA-3928665 Reactome Name: EPH-ephrin mediated repulsion of cells See in Reactome R-HSA-1474228 R-HSA-1474228 Reactome Name: Degradation of the extracellular matrix See in Reactome R-HSA-205043 R-HSA-205043 Reactome Name: NRIF signals cell death from the nucleus See in Reactome R-HSA-9013700 R-HSA-9013700 Reactome Name: NOTCH4 Activation and Transmission of Signal to the Nucleus See in Reactome R-HSA-6798695 R-HSA-6798695 Reactome Name: Neutrophil degranulation See in Reactome R-HSA-2122948 R-HSA-2122948 Reactome Name: Activated NOTCH1 Transmits Signal to the Nucleus See in Reactome R-HSA-9017802 R-HSA-9017802 Reactome Name: Noncanonical activation of NOTCH3 See in Reactome R-HSA-1251985 R-HSA-1251985 Reactome Name: Nuclear signaling by ERBB4 See in Reactome R-HSA-2979096 R-HSA-2979096 Reactome Name: NOTCH2 Activation and Transmission of Signal to the Nucleus See in Reactome	R-HSA-204998 R-HSA-204998 Reactome Name: Cell death signalling via NRAGE, NRIF and NADE See in Reactome R-HSA-1980143 R-HSA-1980143 Reactome Name: Signaling by NOTCH1 See in Reactome R-HSA-9012852 R-HSA-9012852 Reactome Name: Signaling by NOTCH3 See in Reactome R-HSA-1980145 R-HSA-1980145 Reactome Name: Signaling by NOTCH2 See in Reactome R-HSA-168249 R-HSA-168249 Reactome Name: Innate Immune System 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-9013694 R-HSA-9013694 Reactome Name: Signaling by NOTCH4 See in Reactome R-HSA-157118 R-HSA-157118 Reactome Name: Signaling by NOTCH See in Reactome R-HSA-1474244 R-HSA-1474244 Reactome Name: Extracellular matrix organization See in Reactome R-HSA-9006934 R-HSA-9006934 Reactome Name: Signaling by Receptor Tyrosine Kinases See in Reactome R-HSA-162582 R-HSA-162582 Reactome Name: Signal Transduction See in Reactome R-HSA-193704 R-HSA-193704 Reactome Name: p75 NTR receptor-mediated signalling See in Reactome R-HSA-73887 R-HSA-73887 Reactome Name: Death Receptor Signalling See in Reactome R-HSA-1236394 R-HSA-1236394 Reactome Name: Signaling by ERBB4 See in Reactome R-HSA-422475 R-HSA-422475 Reactome Name: Axon guidance See in Reactome R-HSA-2682334 R-HSA-2682334 Reactome Name: EPH-Ephrin signaling See in Reactome R-HSA-1266738 R-HSA-1266738 Reactome Name: Developmental Biology See in Reactome	Immune System Extracellular matrix organization Signal Transduction Developmental Biology	R-HSA-1251997 ( R-HSA-1251985 ) R-HSA-1251997 Reaction Name: Cleavage of ERBB4m80 by gamma-scretase complex See in Reactome R-HSA-157353 ( R-HSA-2122948 ) R-HSA-157353 Reaction Name: NEXT1 is cleaved to produce NICD1 See in Reactome R-HSA-157640 ( R-HSA-2979096 ) R-HSA-157640 Reaction Name: NEXT2 is cleaved to produce NICD2 See in Reactome R-HSA-193682 ( R-HSA-193692 ) R-HSA-193682 Reaction Name: gamma-secretase cleaves the p75NTR transmembrane domain See in Reactome R-HSA-1980109 ( R-HSA-2122948 ) R-HSA-1980109 Reaction Name: Cleavage of CNTN1:NOTCH1 complex releases NICD1 See in Reactome R-HSA-1980112 ( R-HSA-2122948 ) R-HSA-1980112 Reaction Name: Cleavage of DNER:NOTCH1 complex releases NICD1 See in Reactome R-HSA-205112 ( R-HSA-205043 ) R-HSA-205112 Reaction Name: gamma-secretase cleaves p75NTR, releasing NRIF and TRAF6 See in Reactome R-HSA-2534206 ( R-HSA-1474228 ) R-HSA-2534206 Reaction Name: E-cadherin degradation by PS1:NCSTN (Gamma-secretase) See in Reactome R-HSA-2974731 ( R-HSA-2979096 ) R-HSA-2974731 Reaction Name: Gamma-secretase cleaves CNTN1:NOTCH2 to release NICD2 See in Reactome R-HSA-3928656 ( R-HSA-3928665 ) R-HSA-3928656 Reaction Name: gamma-secretase cleaves EPHB2 See in Reactome R-HSA-6798739 ( R-HSA-6798695 ) R-HSA-6798739 Reaction Name: Exocytosis of azurophil granule membrane proteins See in Reactome R-HSA-9013361 ( R-HSA-9013507 ) R-HSA-9013361 Reaction Name: NEXT3 is cleaved to produce NICD3 See in Reactome R-HSA-9017817 ( R-HSA-9013507; R-HSA-9017802 ) R-HSA-9017817 Reaction Name: Gamma-secretase cleaves YBX1:NOTCH3 See in Reactome R-HSA-9604294 ( R-HSA-9013700 ) R-HSA-9604294 Reaction Name: Gamma-secretase cleaves NOTCH4 See in Reactome