DAR - Bologna Biocomputing Group

Search summary (Disease ID: MONDO:0018045)

Number of enzymes:	4
Number of disease:	1
Number of reactomes:	8
Number of reactions:	15

Search results (Disease ID: MONDO:0018045)

DiseaseID	Gene	UniProt	EC numbers	Reactomes	Expanded Reactomes	Reactome roots	Reactions
MONDO:0018045	TERT	O14746	2.7.7.49	R-HSA-171319 R-HSA-171319 Reactome Name: Telomere Extension By Telomerase See in Reactome R-HSA-201722 R-HSA-201722 Reactome Name: Formation of the beta-catenin:TCF transactivating complex See in Reactome	R-HSA-195721 R-HSA-195721 Reactome Name: Signaling by WNT See in Reactome R-HSA-180786 R-HSA-180786 Reactome Name: Extension of Telomeres See in Reactome R-HSA-157579 R-HSA-157579 Reactome Name: Telomere Maintenance See in Reactome R-HSA-1640170 R-HSA-1640170 Reactome Name: Cell Cycle See in Reactome R-HSA-201681 R-HSA-201681 Reactome Name: TCF dependent signaling in response to WNT See in Reactome R-HSA-73886 R-HSA-73886 Reactome Name: Chromosome Maintenance See in Reactome R-HSA-162582 R-HSA-162582 Reactome Name: Signal Transduction See in Reactome	Cell Cycle Signal Transduction	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-3322422 ( R-HSA-201722 ) R-HSA-3322422 Reaction Name: Beta-catenin recruits SMARCA4 See in Reactome
MONDO:0018045	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:0018045	RTEL1	Q9NZ71	3.6.4.12	R-HSA-171319 R-HSA-171319 Reactome Name: Telomere Extension By Telomerase See in Reactome R-HSA-2564830 R-HSA-2564830 Reactome Name: Cytosolic iron-sulfur cluster assembly See in Reactome R-HSA-5693554 R-HSA-5693554 Reactome Name: Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA) See in Reactome	R-HSA-5685942 R-HSA-5685942 Reactome Name: HDR through Homologous Recombination (HRR) See in Reactome R-HSA-180786 R-HSA-180786 Reactome Name: Extension of Telomeres See in Reactome R-HSA-157579 R-HSA-157579 Reactome Name: Telomere Maintenance 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-1430728 R-HSA-1430728 Reactome Name: Metabolism 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-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-5693532 R-HSA-5693532 Reactome Name: DNA Double-Strand Break Repair See in Reactome R-HSA-5693537 R-HSA-5693537 Reactome Name: Resolution of D-Loop Structures See in Reactome	DNA Repair Metabolism 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-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-2564828 ( R-HSA-2564830 ) R-HSA-2564828 Reaction Name: CIA Targeting Complex transfers 4Fe-4S cluster to apoproteins See in Reactome R-HSA-5693589 ( R-HSA-5693554 ) R-HSA-5693589 Reaction Name: D-loop dissociation and strand annealing See in Reactome
MONDO:0018045	PARN	O95453	3.1.13.4	R-HSA-450604 R-HSA-450604 Reactome Name: KSRP (KHSRP) binds and destabilizes mRNA See in Reactome R-HSA-380994 R-HSA-380994 Reactome Name: ATF4 activates genes in response to endoplasmic reticulum stress See in Reactome R-HSA-429947 R-HSA-429947 Reactome Name: Deadenylation of mRNA See in Reactome	R-HSA-381042 R-HSA-381042 Reactome Name: PERK regulates gene expression See in Reactome R-HSA-381119 R-HSA-381119 Reactome Name: Unfolded Protein Response (UPR) See in Reactome R-HSA-8953897 R-HSA-8953897 Reactome Name: Cellular responses to stimuli See in Reactome R-HSA-8953854 R-HSA-8953854 Reactome Name: Metabolism of RNA See in Reactome R-HSA-2262752 R-HSA-2262752 Reactome Name: Cellular responses to stress See in Reactome R-HSA-450531 R-HSA-450531 Reactome Name: Regulation of mRNA stability by proteins that bind AU-rich elements See in Reactome R-HSA-429914 R-HSA-429914 Reactome Name: Deadenylation-dependent mRNA decay See in Reactome	Cellular responses to stimuli Metabolism of RNA	R-HSA-429992 ( R-HSA-429947 ) R-HSA-429992 Reaction Name: PARN deadenylates mRNA See in Reactome R-HSA-450422 ( R-HSA-450604 ) R-HSA-450422 Reaction Name: KSRP recruits RNA degradation activities See in Reactome R-HSA-517731 ( R-HSA-380994 ) R-HSA-517731 Reaction Name: Expression of IL-8 See in Reactome