DAR - Bologna Biocomputing Group

Search summary (Disease ID: MONDO:0001149)

Number of enzymes:	8
Number of disease:	1
Number of reactomes:	16
Number of reactions:	21

Search results (Disease ID: MONDO:0001149)

DiseaseID	Gene	UniProt	EC numbers	Reactomes	Expanded Reactomes	Reactome roots	Reactions
MONDO:0001149	DHCR7	Q9UBM7	1.3.1.21	R-HSA-6807062 R-HSA-6807062 Reactome Name: Cholesterol biosynthesis via lathosterol See in Reactome R-HSA-2426168 R-HSA-2426168 Reactome Name: Activation of gene expression by SREBF (SREBP) See in Reactome R-HSA-6807047 R-HSA-6807047 Reactome Name: Cholesterol biosynthesis via desmosterol See in Reactome	R-HSA-556833 R-HSA-556833 Reactome Name: Metabolism of lipids See in Reactome R-HSA-1655829 R-HSA-1655829 Reactome Name: Regulation of cholesterol biosynthesis by SREBP (SREBF) See in Reactome R-HSA-191273 R-HSA-191273 Reactome Name: Cholesterol biosynthesis See in Reactome R-HSA-1430728 R-HSA-1430728 Reactome Name: Metabolism See in Reactome R-HSA-8957322 R-HSA-8957322 Reactome Name: Metabolism of steroids See in Reactome	Metabolism	R-HSA-1655827 ( R-HSA-2426168 ) R-HSA-1655827 Reaction Name: Expression of 7-Dehydrocholesterol Reductase (DHCR7) See in Reactome R-HSA-196402 ( R-HSA-6807047 ) R-HSA-196402 Reaction Name: Cholesta-5,7,24-trien-3beta-ol is reduced to desmosterol See in Reactome R-HSA-6807055 ( R-HSA-6807062 ) R-HSA-6807055 Reaction Name: DHCR7 reduces 7-dehydroCHOL to CHOL See in Reactome
MONDO:0001149	UFSP2	Q9NUQ7	3.4.22.-
MONDO:0001149	PLA2G6	O60733	3.1.1.4 3.1.1.5 3.1.2.2	R-HSA-1482798 R-HSA-1482798 Reactome Name: Acyl chain remodeling of CL See in Reactome R-HSA-1482839 R-HSA-1482839 Reactome Name: Acyl chain remodelling of PE See in Reactome R-HSA-6811436 R-HSA-6811436 Reactome Name: COPI-independent Golgi-to-ER retrograde traffic See in Reactome R-HSA-2029485 R-HSA-2029485 Reactome Name: Role of phospholipids in phagocytosis See in Reactome R-HSA-1482788 R-HSA-1482788 Reactome Name: Acyl chain remodelling of PC See in Reactome	R-HSA-2029480 R-HSA-2029480 Reactome Name: Fcgamma receptor (FCGR) dependent phagocytosis See in Reactome R-HSA-168249 R-HSA-168249 Reactome Name: Innate Immune System See in Reactome R-HSA-8856688 R-HSA-8856688 Reactome Name: Golgi-to-ER retrograde transport See in Reactome R-HSA-168256 R-HSA-168256 Reactome Name: Immune System See in Reactome R-HSA-1483257 R-HSA-1483257 Reactome Name: Phospholipid metabolism See in Reactome R-HSA-6811442 R-HSA-6811442 Reactome Name: Intra-Golgi and retrograde Golgi-to-ER traffic See in Reactome R-HSA-199991 R-HSA-199991 Reactome Name: Membrane Trafficking See in Reactome R-HSA-1483206 R-HSA-1483206 Reactome Name: Glycerophospholipid biosynthesis See in Reactome R-HSA-1430728 R-HSA-1430728 Reactome Name: Metabolism See in Reactome R-HSA-556833 R-HSA-556833 Reactome Name: Metabolism of lipids See in Reactome R-HSA-5653656 R-HSA-5653656 Reactome Name: Vesicle-mediated transport See in Reactome	Immune System Metabolism Vesicle-mediated transport	R-HSA-1482778 ( R-HSA-1482798 ) R-HSA-1482778 Reaction Name: CL is hydrolyzed to MLCL by PLA2G6 (IM) See in Reactome R-HSA-1482856 ( R-HSA-1482788 ) R-HSA-1482856 Reaction Name: PC is hydrolyzed to 1-acyl LPC by PLA2[5] See in Reactome R-HSA-1482884 ( R-HSA-1482839 ) R-HSA-1482884 Reaction Name: PE is hydrolyzed to 1-acyl LPE by PLA2[2] See in Reactome R-HSA-2029475 ( R-HSA-2029485 ) R-HSA-2029475 Reaction Name: Production of AA by iPLA2 upon FCGR activation See in Reactome R-HSA-8848484 ( R-HSA-6811436 ) R-HSA-8848484 Reaction Name: PLA2s hydrolyze phospholipids at the Golgi membrane See in Reactome
MONDO:0001149	SLC2A1	P11166	-	R-HSA-189200 R-HSA-189200 Reactome Name: Cellular hexose transport See in Reactome R-HSA-422356 R-HSA-422356 Reactome Name: Regulation of insulin secretion See in Reactome R-HSA-196836 R-HSA-196836 Reactome Name: Vitamin C (ascorbate) metabolism See in Reactome R-HSA-5653890 R-HSA-5653890 Reactome Name: Lactose synthesis See in Reactome	R-HSA-71387 R-HSA-71387 Reactome Name: Metabolism of carbohydrates See in Reactome R-HSA-196854 R-HSA-196854 Reactome Name: Metabolism of vitamins and cofactors See in Reactome R-HSA-163685 R-HSA-163685 Reactome Name: Integration of energy metabolism See in Reactome R-HSA-382551 R-HSA-382551 Reactome Name: Transport of small molecules See in Reactome R-HSA-1430728 R-HSA-1430728 Reactome Name: Metabolism See in Reactome R-HSA-425407 R-HSA-425407 Reactome Name: SLC-mediated transmembrane transport See in Reactome R-HSA-196849 R-HSA-196849 Reactome Name: Metabolism of water-soluble vitamins and cofactors See in Reactome	Transport of small molecules Metabolism	R-HSA-198818 ( R-HSA-196836 ) R-HSA-198818 Reaction Name: SLC2A1,3 transports DeHA from extracellular region to cytosol See in Reactome R-HSA-450088 ( R-HSA-189200 ) R-HSA-450088 Reaction Name: GLUT1 tetramer binds 4xATP See in Reactome R-HSA-450092 ( R-HSA-189200 ) R-HSA-450092 Reaction Name: GLUT1:ATP tetramer dissociates to GLUT1 tetramer and 4xATP See in Reactome R-HSA-499981 ( R-HSA-422356 ) R-HSA-499981 Reaction Name: Transport of Extracellular Glucose to the Cytosol by GLUT1 and GLUT2 See in Reactome R-HSA-5339524 ( R-HSA-189200 ) R-HSA-5339524 Reaction Name: GLUT1 (SLC2A1) tetramer transports Glc from extracellular region to cytosol See in Reactome R-HSA-5653873 ( R-HSA-5653890 ) R-HSA-5653873 Reaction Name: SLC2A1 tetramer transports Glc from cytosol to Golgi lumen See in Reactome
MONDO:0001149	RAG1	P15918	2.3.2.27 3.1.-.-	R-HSA-5687128 R-HSA-5687128 Reactome Name: MAPK6/MAPK4 signaling See in Reactome R-HSA-1266695 R-HSA-1266695 Reactome Name: Interleukin-7 signaling See in Reactome	R-HSA-1280215 R-HSA-1280215 Reactome Name: Cytokine Signaling in Immune system See in Reactome R-HSA-168256 R-HSA-168256 Reactome Name: Immune System See in Reactome R-HSA-5683057 R-HSA-5683057 Reactome Name: MAPK family signaling cascades See in Reactome R-HSA-162582 R-HSA-162582 Reactome Name: Signal Transduction See in Reactome R-HSA-449147 R-HSA-449147 Reactome Name: Signaling by Interleukins See in Reactome	Immune System Signal Transduction	R-HSA-5692794 ( R-HSA-5687128 ) R-HSA-5692794 Reaction Name: p-S215 FOXO1 positively regulates RAG gene expression See in Reactome R-HSA-8865711 ( R-HSA-1266695 ) R-HSA-8865711 Reaction Name: RAG1:RAG2 recombinase binds immunoglobulin kappa locus in a BRWD1-dependent manner See in Reactome
MONDO:0001149	ALG13	Q9NP73	2.4.1.141 3.4.19.12	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-446203 R-HSA-446203 Reactome Name: Asparagine N-linked glycosylation 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-446207 ( R-HSA-446193 ) R-HSA-446207 Reaction Name: ALG13:ALG14 transfers GlcNAc from UDP-GlcNAc to GlcNAcDOLP See in Reactome
MONDO:0001149	DHX34	Q14147	3.6.4.13
MONDO:0001149	ATRX	P46100	3.6.4.12	R-HSA-9670095 R-HSA-9670095 Reactome Name: Inhibition of DNA recombination at telomere See in Reactome	R-HSA-1640170 R-HSA-1640170 Reactome Name: Cell Cycle See in Reactome R-HSA-73886 R-HSA-73886 Reactome Name: Chromosome Maintenance See in Reactome R-HSA-157579 R-HSA-157579 Reactome Name: Telomere Maintenance See in Reactome	Cell Cycle	R-HSA-9007926 ( R-HSA-9670095 ) R-HSA-9007926 Reaction Name: ATRX binds DAXX See in Reactome R-HSA-9670101 ( R-HSA-9670095 ) R-HSA-9670101 Reaction Name: ATRX:DAXX binds to subtelomeric chromosomal regions See in Reactome R-HSA-9670114 ( R-HSA-9670095 ) R-HSA-9670114 Reaction Name: Histone H3.3 deposition at telomere See in Reactome R-HSA-9670149 ( R-HSA-9670095 ) R-HSA-9670149 Reaction Name: TERRA transcription See in Reactome