DAR - Bologna Biocomputing Group

Search summary (Disease ID: MONDO:0011518)

Number of enzymes:	2
Number of disease:	1
Number of reactomes:	4
Number of reactions:	19

Search results (Disease ID: MONDO:0011518)

DiseaseID	Gene	UniProt	EC numbers	Reactomes	Expanded Reactomes	Reactome roots	Reactions
MONDO:0011518	CHD7	Q9P2D1	3.6.4.12
MONDO:0011518	KMT2A	Q03164	2.1.1.364 2.1.1.-	R-HSA-8936459 R-HSA-8936459 Reactome Name: RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function See in Reactome R-HSA-8939236 R-HSA-8939236 Reactome Name: RUNX1 regulates transcription of genes involved in differentiation of HSCs See in Reactome R-HSA-3214841 R-HSA-3214841 Reactome Name: PKMTs methylate histone lysines See in Reactome R-HSA-9616222 R-HSA-9616222 Reactome Name: Transcriptional regulation of granulopoiesis 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-8878171 R-HSA-8878171 Reactome Name: Transcriptional regulation by RUNX1 See in Reactome R-HSA-4839726 R-HSA-4839726 Reactome Name: Chromatin organization See in Reactome R-HSA-3247509 R-HSA-3247509 Reactome Name: Chromatin modifying enzymes See in Reactome R-HSA-1266738 R-HSA-1266738 Reactome Name: Developmental Biology See in Reactome R-HSA-73857 R-HSA-73857 Reactome Name: RNA Polymerase II Transcription See in Reactome	Gene expression (Transcription) Chromatin organization Developmental Biology	R-HSA-5159245 ( R-HSA-3214841 ) R-HSA-5159245 Reaction Name: SETD3, SETD7 (KMT7), WHSC1L1 (KMT3F), Core MLL complex methylate lysine-5 of histone H3 (H3K4) See in Reactome R-HSA-5244692 ( R-HSA-3214841 ) R-HSA-5244692 Reaction Name: Core MLL complex, SMYD3, PRDM9 methylate dimethyl-lysine-5 of histone H3 (H3K4) See in Reactome R-HSA-5637686 ( R-HSA-3214841 ) R-HSA-5637686 Reaction Name: WHSC1L1 (KMT3F), Core MLL complex, SMYD3 (KMT3E) methylate methyl-lysine-5 of histone H3 (H3K4) See in Reactome R-HSA-8865482 ( R-HSA-8939236 ) R-HSA-8865482 Reaction Name: KMT2A (MLL) binds RUNX1 See in Reactome R-HSA-8865491 ( R-HSA-8939236 ) R-HSA-8865491 Reaction Name: RUNX1:CBFB:KMT2A binds SPI1 (PU.1) gene See in Reactome R-HSA-8865498 ( R-HSA-8939236 ) R-HSA-8865498 Reaction Name: KMT2A trimethylates nucleosomes at the SPI1 gene locus producing H3K4Me3 mark See in Reactome R-HSA-8865505 ( R-HSA-8939236; R-HSA-9616222 ) R-HSA-8865505 Reaction Name: SPI1 (PU.1) gene transcription is stimulated by RUNX1:CBFB:KMT2A See in Reactome R-HSA-8935731 ( R-HSA-8936459 ) R-HSA-8935731 Reaction Name: ITGA2B gene transcription is stimulated by the complex of RUNX1, GATA1 and PRMT1 and inhibited by the complex of RUNX1, SIN3A and PRMT6 See in Reactome R-HSA-8935740 ( R-HSA-8936459 ) R-HSA-8935740 Reaction Name: RUNX1 and GATA1 bind the promoter of the ITGA2B gene See in Reactome R-HSA-8936481 ( R-HSA-8936459 ) R-HSA-8936481 Reaction Name: Core MLL complex methylates H3K4Me2-Nucleosome at the ITGA2B gene promoter See in Reactome R-HSA-8936616 ( R-HSA-8936459 ) R-HSA-8936616 Reaction Name: RUNX1 and GATA1 bind the promoter of the GP1BA gene See in Reactome R-HSA-8936621 ( R-HSA-8936459 ) R-HSA-8936621 Reaction Name: Core MLL complex methylates H3K4Me2-Nucleosome at the GP1BA gene promoter See in Reactome R-HSA-8936628 ( R-HSA-8936459 ) R-HSA-8936628 Reaction Name: GP1BA gene transcription is stimulated by the complex containing RUNX1, PRMT1 and GATA1 and inhibited by the complex of RUNX1, SIN3A and PRMT6 See in Reactome R-HSA-8936979 ( R-HSA-8936459 ) R-HSA-8936979 Reaction Name: RUNX1 and GATA1 bind the promoter of the THBS1 gene See in Reactome R-HSA-8936995 ( R-HSA-8936459 ) R-HSA-8936995 Reaction Name: THBS1 gene transcription is stimulated by the complex containing RUNX1, PRMT1 and GATA1 and inhibited by the complex of RUNX1, SIN3A and PRMT6 See in Reactome R-HSA-8937016 ( R-HSA-8936459 ) R-HSA-8937016 Reaction Name: Core MLL complex methylates H3K4Me2-Nucleosome at the THBS1 gene promoter See in Reactome R-HSA-8937037 ( R-HSA-8936459 ) R-HSA-8937037 Reaction Name: RUNX1 and GATA1 bind the promoter of the MIR27A gene See in Reactome R-HSA-8937050 ( R-HSA-8936459 ) R-HSA-8937050 Reaction Name: Core MLL complex methylates H3K4Me2-Nucleosome at the MIR27A gene promoter See in Reactome R-HSA-8937097 ( R-HSA-8936459 ) R-HSA-8937097 Reaction Name: MIR27A gene transcription is stimulated by the complex containing RUNX1, PRMT1 and GATA1 and inhibited by the complex of RUNX1, SIN3A and PRMT6 See in Reactome