DAR - Bologna Biocomputing Group

Search summary (Disease ID: MONDO:0016392)

Number of enzymes:	6
Number of disease:	1
Number of reactomes:	11
Number of reactions:	19

Search results (Disease ID: MONDO:0016392)

DiseaseID	Gene	UniProt	EC numbers	Reactomes	Expanded Reactomes	Reactome roots	Reactions
MONDO:0016392	DKC1	O60832	5.4.99.-	R-HSA-171319 R-HSA-171319 Reactome Name: Telomere Extension By Telomerase See in Reactome R-HSA-6790901 R-HSA-6790901 Reactome Name: rRNA modification in the nucleus and cytosol See in Reactome	R-HSA-8868773 R-HSA-8868773 Reactome Name: rRNA processing in the nucleus and cytosol See in Reactome R-HSA-8953854 R-HSA-8953854 Reactome Name: Metabolism of RNA See in Reactome R-HSA-157579 R-HSA-157579 Reactome Name: Telomere Maintenance See in Reactome R-HSA-180786 R-HSA-180786 Reactome Name: Extension of Telomeres 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-72312 R-HSA-72312 Reactome Name: rRNA processing See in Reactome	Metabolism of RNA Cell Cycle	R-HSA-163090 ( R-HSA-171319 ) R-HSA-163090 Reaction Name: Elongation Of The Telomeric Chromosome End See in Reactome R-HSA-163096 ( R-HSA-171319 ) R-HSA-163096 Reaction Name: Recruitment of Telomerase RNP to the Telomeric Chromosome End See in Reactome R-HSA-163099 ( R-HSA-171319 ) R-HSA-163099 Reaction Name: Alignment Of The RNA Template On The Telomeric Chromosome End See in Reactome R-HSA-163120 ( R-HSA-171319 ) R-HSA-163120 Reaction Name: Disassociation of Telomerase RNP and the Chromosome End See in Reactome R-HSA-164616 ( R-HSA-171319 ) R-HSA-164616 Reaction Name: Biogenesis and assembly of the telomerase RNP See in Reactome R-HSA-164617 ( R-HSA-171319 ) R-HSA-164617 Reaction Name: Elongation of Extended Telomeric Chromosome End See in Reactome R-HSA-164620 ( R-HSA-171319 ) R-HSA-164620 Reaction Name: Translocation Of Telomerase RNP And Alignment Of RNA Template (TERC) To Extended Single Stranded Telomeric Chromosome-End See in Reactome R-HSA-6790905 ( R-HSA-6790901 ) R-HSA-6790905 Reaction Name: Box H/ACA snoRNP transforms uridine to pseudouridine in pre-rRNA See in Reactome R-HSA-9671145 ( R-HSA-171319 ) R-HSA-9671145 Reaction Name: DKC1 binds SHQ1 See in Reactome
MONDO:0016392	RARS2	Q5T160	6.1.1.19	R-HSA-379726 R-HSA-379726 Reactome Name: Mitochondrial tRNA aminoacylation See in Reactome	R-HSA-392499 R-HSA-392499 Reactome Name: Metabolism of proteins See in Reactome R-HSA-379724 R-HSA-379724 Reactome Name: tRNA Aminoacylation See in Reactome R-HSA-72766 R-HSA-72766 Reactome Name: Translation See in Reactome	Metabolism of proteins	R-HSA-380224 ( R-HSA-379726 ) R-HSA-380224 Reaction Name: arginine + tRNA(Arg) + ATP => Arg-tRNA(Arg) + AMP + pyrophosphate See in Reactome
MONDO:0016392	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:0016392	DDX3X	O00571	3.6.4.13	R-HSA-6798695 R-HSA-6798695 Reactome Name: Neutrophil degranulation 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	Immune System	R-HSA-6798748 ( R-HSA-6798695 ) R-HSA-6798748 Reaction Name: Exocytosis of secretory 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
MONDO:0016392	TMLHE	Q9NVH6	1.14.11.8	R-HSA-71262 R-HSA-71262 Reactome Name: Carnitine synthesis See in Reactome	R-HSA-71291 R-HSA-71291 Reactome Name: Metabolism of amino acids and derivatives See in Reactome R-HSA-1430728 R-HSA-1430728 Reactome Name: Metabolism See in Reactome	Metabolism	R-HSA-71241 ( R-HSA-71262 ) R-HSA-71241 Reaction Name: TMLHE dimer dioxygenates TMLYS and 2OG to form HTMLYS and SUCCA See in Reactome
MONDO:0016392	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