DAR - Bologna Biocomputing Group

Search summary (Disease ID: MONDO:0008876)

Number of enzymes:	1
Number of disease:	1
Number of reactomes:	12
Number of reactions:	30

Search results (Disease ID: MONDO:0008876)

DiseaseID	Gene	UniProt	EC numbers	Reactomes	Expanded Reactomes	Reactome roots	Reactions
MONDO:0008876	BLM	P54132	3.6.4.12	R-HSA-5693568 R-HSA-5693568 Reactome Name: Resolution of D-loop Structures through Holliday Junction Intermediates See in Reactome R-HSA-174414 R-HSA-174414 Reactome Name: Processive synthesis on the C-strand of the telomere 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-6804756 R-HSA-6804756 Reactome Name: Regulation of TP53 Activity through Phosphorylation See in Reactome R-HSA-912446 R-HSA-912446 Reactome Name: Meiotic recombination See in Reactome R-HSA-5693579 R-HSA-5693579 Reactome Name: Homologous DNA Pairing and Strand Exchange See in Reactome R-HSA-5693607 R-HSA-5693607 Reactome Name: Processing of DNA double-strand break ends See in Reactome R-HSA-5685942 R-HSA-5685942 Reactome Name: HDR through Homologous Recombination (HRR) See in Reactome R-HSA-5685938 R-HSA-5685938 Reactome Name: HDR through Single Strand Annealing (SSA) See in Reactome R-HSA-3108214 R-HSA-3108214 Reactome Name: SUMOylation of DNA damage response and repair proteins See in Reactome R-HSA-5693616 R-HSA-5693616 Reactome Name: Presynaptic phase of homologous DNA pairing and strand exchange See in Reactome R-HSA-69473 R-HSA-69473 Reactome Name: G2/M DNA damage checkpoint See in Reactome	R-HSA-3700989 R-HSA-3700989 Reactome Name: Transcriptional Regulation by TP53 See in Reactome R-HSA-1640170 R-HSA-1640170 Reactome Name: Cell Cycle See in Reactome R-HSA-597592 R-HSA-597592 Reactome Name: Post-translational protein modification See in Reactome R-HSA-73857 R-HSA-73857 Reactome Name: RNA Polymerase II Transcription See in Reactome R-HSA-5633007 R-HSA-5633007 Reactome Name: Regulation of TP53 Activity 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-69620 R-HSA-69620 Reactome Name: Cell Cycle Checkpoints See in Reactome R-HSA-2990846 R-HSA-2990846 Reactome Name: SUMOylation See in Reactome R-HSA-73886 R-HSA-73886 Reactome Name: Chromosome Maintenance See in Reactome R-HSA-1474165 R-HSA-1474165 Reactome Name: Reproduction 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-174417 R-HSA-174417 Reactome Name: Telomere C-strand (Lagging Strand) Synthesis See in Reactome R-HSA-157579 R-HSA-157579 Reactome Name: Telomere Maintenance See in Reactome R-HSA-392499 R-HSA-392499 Reactome Name: Metabolism of proteins See in Reactome R-HSA-69481 R-HSA-69481 Reactome Name: G2/M Checkpoints See in Reactome R-HSA-3108232 R-HSA-3108232 Reactome Name: SUMO E3 ligases SUMOylate target proteins See in Reactome R-HSA-180786 R-HSA-180786 Reactome Name: Extension of Telomeres See in Reactome R-HSA-5693538 R-HSA-5693538 Reactome Name: Homology Directed Repair See in Reactome R-HSA-1500620 R-HSA-1500620 Reactome Name: Meiosis See in Reactome R-HSA-73894 R-HSA-73894 Reactome Name: DNA Repair 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	Cell Cycle Gene expression (Transcription) Reproduction Metabolism of proteins DNA Repair	R-HSA-174438 ( R-HSA-174414 ) R-HSA-174438 Reaction Name: Formation of the Flap Intermediate on the C-strand See in Reactome R-HSA-4568914 ( R-HSA-3108214 ) R-HSA-4568914 Reaction Name: SUMOylation of BLM with SUMO2,3 See in Reactome R-HSA-5684875 ( R-HSA-5693607 ) R-HSA-5684875 Reaction Name: Binding of ATR:ATRIP to RPA at resected DNA DSBs See in Reactome R-HSA-5684882 ( R-HSA-5693607 ) R-HSA-5684882 Reaction Name: CHEK1 is recruited to resected DNA DSBs See in Reactome R-HSA-5684887 ( R-HSA-5693607 ) R-HSA-5684887 Reaction Name: Activation of CHEK1 at resected DNA DSBs See in Reactome R-HSA-5685011 ( R-HSA-5693607 ) R-HSA-5685011 Reaction Name: ATR activation at DNA DSBs See in Reactome R-HSA-5685156 ( R-HSA-5693607 ) R-HSA-5685156 Reaction Name: ATR phosphorylates RPA2 See in Reactome R-HSA-5685341 ( R-HSA-5685942; R-HSA-5693579; R-HSA-5693616 ) R-HSA-5685341 Reaction Name: BCDX2 complex stabilizes RAD51 filament See in Reactome R-HSA-5685838 ( R-HSA-5685942; R-HSA-5693579 ) R-HSA-5685838 Reaction Name: CX3 complex binds D-loop structures See in Reactome R-HSA-5685985 ( R-HSA-5693607 ) R-HSA-5685985 Reaction Name: EXO1 or DNA2 in complex with BLM or WRN binds initially resected DNA DSBs along with BRIP1 recruitment See in Reactome R-HSA-5685994 ( R-HSA-5693607 ) R-HSA-5685994 Reaction Name: Long-range resection of DNA DSBs by EXO1 or DNA2 See in Reactome R-HSA-5686398 ( R-HSA-5685942; R-HSA-5693568 ) R-HSA-5686398 Reaction Name: SPIDR binds BLM:TOP3A:RMI1:RMI2 See in Reactome R-HSA-5686410 ( R-HSA-5685942; R-HSA-5693568 ) R-HSA-5686410 Reaction Name: BLM mediates dissolution of double Holliday junction See in Reactome R-HSA-5686440 ( R-HSA-5685942; R-HSA-5693568 ) R-HSA-5686440 Reaction Name: MUS81:EME1,EME2 cleaves D-loop See in Reactome R-HSA-5686469 ( R-HSA-5685942; R-HSA-5693568 ) R-HSA-5686469 Reaction Name: Resolution of D-loops cleaved by MUS81:EME1 or MUS81:EME2 See in Reactome R-HSA-5686483 ( R-HSA-5685942; R-HSA-5693568 ) R-HSA-5686483 Reaction Name: Resolution of Holliday junctions cleaved by GEN1 or SLX1A:SLX4:MUS81:EME1,(MUS81:EME2) See in Reactome R-HSA-5686642 ( R-HSA-5685938 ) R-HSA-5686642 Reaction Name: RAD52 promotes single strand annealing at resected DNA DSBs See in Reactome R-HSA-5686657 ( R-HSA-5685938 ) R-HSA-5686657 Reaction Name: ERCC1:XPF cleaves flaps generated by SSA See in Reactome R-HSA-5693539 ( R-HSA-5685942; R-HSA-5693568 ) R-HSA-5693539 Reaction Name: Ligation of DNA and formation of Holliday structures following repair synthesis See in Reactome R-HSA-5693542 ( R-HSA-5693607 ) R-HSA-5693542 Reaction Name: Association of RPA complexes with ssDNA at resected DNA DSBs See in Reactome R-HSA-5693561 ( R-HSA-5685942; R-HSA-5693579; R-HSA-5693616 ) R-HSA-5693561 Reaction Name: RAD51 binds BRCA2 at resected DNA DSBs See in Reactome R-HSA-5693564 ( R-HSA-5685938 ) R-HSA-5693564 Reaction Name: Association of RAD51 with RAD52:DNA double-strand break ends See in Reactome R-HSA-5693580 ( R-HSA-5685938 ) R-HSA-5693580 Reaction Name: Association of RAD52 with the RPA complex at resected DNA DSBs See in Reactome R-HSA-5693584 ( R-HSA-5685942; R-HSA-5693568 ) R-HSA-5693584 Reaction Name: Cleavage of Holliday junctions by GEN1 or SLX1A:SLX4:MUS81:EME1,(MUS81:EME2) See in Reactome R-HSA-5693589 ( R-HSA-5685942; R-HSA-5693554 ) R-HSA-5693589 Reaction Name: D-loop dissociation and strand annealing See in Reactome R-HSA-5693593 ( R-HSA-5685942 ) R-HSA-5693593 Reaction Name: D-loop extension by DNA polymerases See in Reactome R-HSA-5693620 ( R-HSA-5685942; R-HSA-5693579 ) R-HSA-5693620 Reaction Name: D-loop formation mediated by PALB2, BRCA2 and RAD51 See in Reactome R-HSA-6799332 ( R-HSA-6804756; R-HSA-69473 ) R-HSA-6799332 Reaction Name: ATR phosphorylates TP53 See in Reactome R-HSA-912429 ( R-HSA-912446 ) R-HSA-912429 Reaction Name: Resolution of meiotic holliday junction See in Reactome R-HSA-912496 ( R-HSA-912446 ) R-HSA-912496 Reaction Name: Formation of meiotic holliday junction See in Reactome