DAR - Bologna Biocomputing Group

Search summary (Disease ID: MONDO:0011338)

Number of enzymes:	5
Number of disease:	1
Number of reactomes:	4
Number of reactions:	12

Search results (Disease ID: MONDO:0011338)

DiseaseID	Gene	UniProt	EC numbers	Reactomes	Expanded Reactomes	Reactome roots	Reactions
MONDO:0011338	CHD7	Q9P2D1	3.6.4.12
MONDO:0011338	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:0011338	DCLRE1C	Q96SD1	3.1.-.-	R-HSA-5693571 R-HSA-5693571 Reactome Name: Nonhomologous End-Joining (NHEJ) 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	DNA Repair	R-HSA-5686704 ( R-HSA-5693571 ) R-HSA-5686704 Reaction Name: Activated ATM phosphorylates DCLRE1C See in Reactome R-HSA-5686900 ( R-HSA-5693571 ) R-HSA-5686900 Reaction Name: TP53BP1 recruits DCLRE1C to ATM See in Reactome R-HSA-5686924 ( R-HSA-5693571 ) R-HSA-5686924 Reaction Name: DCLRE1C binds PRKDC:XRCC5:XRCC6 at DNA DSBs See in Reactome R-HSA-5687183 ( R-HSA-5693571 ) R-HSA-5687183 Reaction Name: PRKDC phosphorylates DCLRE1C at DNA DSBs See in Reactome R-HSA-5687360 ( R-HSA-5693571 ) R-HSA-5687360 Reaction Name: POLL or POLM extends aligned DNA DSB ends to fill gaps See in Reactome R-HSA-5693533 ( R-HSA-5693571 ) R-HSA-5693533 Reaction Name: DCLRE1C (ARTEMIS) processes DNA DSB ends See in Reactome R-HSA-5693574 ( R-HSA-5693571 ) R-HSA-5693574 Reaction Name: XRCC4:LIG4, NHEJ1 and POLL or POLM bind DNA DSBs in NHEJ See in Reactome R-HSA-5693578 ( R-HSA-5693571 ) R-HSA-5693578 Reaction Name: TDP1 and TDP2 process unligatable DSB ends See in Reactome R-HSA-5693604 ( R-HSA-5693571 ) R-HSA-5693604 Reaction Name: XRCC4:LIG4 ligates DNA DSB ends during NHEJ See in Reactome
MONDO:0011338	LIG4	P49917	6.5.1.1	R-HSA-5693571 R-HSA-5693571 Reactome Name: Nonhomologous End-Joining (NHEJ) 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	DNA Repair	R-HSA-5687360 ( R-HSA-5693571 ) R-HSA-5687360 Reaction Name: POLL or POLM extends aligned DNA DSB ends to fill gaps See in Reactome R-HSA-5693574 ( R-HSA-5693571 ) R-HSA-5693574 Reaction Name: XRCC4:LIG4, NHEJ1 and POLL or POLM bind DNA DSBs in NHEJ See in Reactome R-HSA-5693604 ( R-HSA-5693571 ) R-HSA-5693604 Reaction Name: XRCC4:LIG4 ligates DNA DSB ends during NHEJ See in Reactome
MONDO:0011338	ADA	P00813	3.5.4.4	R-HSA-74217 R-HSA-74217 Reactome Name: Purine salvage See in Reactome	R-HSA-1430728 R-HSA-1430728 Reactome Name: Metabolism See in Reactome R-HSA-15869 R-HSA-15869 Reactome Name: Metabolism of nucleotides See in Reactome R-HSA-8956321 R-HSA-8956321 Reactome Name: Nucleotide salvage See in Reactome	Metabolism	R-HSA-74241 ( R-HSA-74217 ) R-HSA-74241 Reaction Name: ADA catalyzes the deamination of (deoxy)adenosine See in Reactome