DAR - Bologna Biocomputing Group

Search summary (Disease ID: MONDO:0021548)

Number of enzymes:	4
Number of disease:	1
Number of reactomes:	15
Number of reactions:	26

Search results (Disease ID: MONDO:0021548)

DiseaseID	Gene	UniProt	EC numbers	Reactomes	Expanded Reactomes	Reactome roots	Reactions
MONDO:0021548	LSS	P48449	5.4.99.7	R-HSA-191273 R-HSA-191273 Reactome Name: Cholesterol biosynthesis See in Reactome R-HSA-2426168 R-HSA-2426168 Reactome Name: Activation of gene expression by SREBF (SREBP) See in Reactome	R-HSA-556833 R-HSA-556833 Reactome Name: Metabolism of lipids See in Reactome R-HSA-1655829 R-HSA-1655829 Reactome Name: Regulation of cholesterol biosynthesis by SREBP (SREBF) See in Reactome R-HSA-1430728 R-HSA-1430728 Reactome Name: Metabolism See in Reactome R-HSA-8957322 R-HSA-8957322 Reactome Name: Metabolism of steroids See in Reactome	Metabolism	R-HSA-1655828 ( R-HSA-2426168 ) R-HSA-1655828 Reaction Name: Expression of Lanosterol Synthase (LSS) See in Reactome R-HSA-191366 ( R-HSA-191273 ) R-HSA-191366 Reaction Name: Squalene 2,3-epoxide cyclizes, forming lanosterol See in Reactome
MONDO:0021548	AGK	Q53H12	2.7.1.94 2.7.1.107 2.7.1.138	R-HSA-1483206 R-HSA-1483206 Reactome Name: Glycerophospholipid biosynthesis See in Reactome	R-HSA-556833 R-HSA-556833 Reactome Name: Metabolism of lipids See in Reactome R-HSA-1430728 R-HSA-1430728 Reactome Name: Metabolism See in Reactome R-HSA-1483257 R-HSA-1483257 Reactome Name: Phospholipid metabolism See in Reactome	Metabolism	R-HSA-5696074 ( R-HSA-1483206 ) R-HSA-5696074 Reaction Name: AGK:Mg2+ phosphorylates MAG, DAG See in Reactome
MONDO:0021548	EPHA2	P29317	2.7.10.1	R-HSA-3928665 R-HSA-3928665 Reactome Name: EPH-ephrin mediated repulsion of cells See in Reactome R-HSA-9696264 R-HSA-9696264 Reactome Name: RND3 GTPase cycle See in Reactome R-HSA-9696270 R-HSA-9696270 Reactome Name: RND2 GTPase cycle See in Reactome R-HSA-3928663 R-HSA-3928663 Reactome Name: EPHA-mediated growth cone collapse See in Reactome R-HSA-9696273 R-HSA-9696273 Reactome Name: RND1 GTPase cycle See in Reactome R-HSA-9013424 R-HSA-9013424 Reactome Name: RHOV GTPase cycle See in Reactome R-HSA-9013420 R-HSA-9013420 Reactome Name: RHOU GTPase cycle See in Reactome R-HSA-9013408 R-HSA-9013408 Reactome Name: RHOG GTPase cycle See in Reactome R-HSA-9013423 R-HSA-9013423 Reactome Name: RAC3 GTPase cycle See in Reactome R-HSA-9013404 R-HSA-9013404 Reactome Name: RAC2 GTPase cycle See in Reactome R-HSA-2682334 R-HSA-2682334 Reactome Name: EPH-Ephrin signaling See in Reactome R-HSA-9013149 R-HSA-9013149 Reactome Name: RAC1 GTPase cycle See in Reactome	R-HSA-9012999 R-HSA-9012999 Reactome Name: RHO GTPase cycle See in Reactome R-HSA-9675108 R-HSA-9675108 Reactome Name: Nervous system development See in Reactome R-HSA-194315 R-HSA-194315 Reactome Name: Signaling by Rho GTPases See in Reactome R-HSA-162582 R-HSA-162582 Reactome Name: Signal Transduction See in Reactome R-HSA-422475 R-HSA-422475 Reactome Name: Axon guidance See in Reactome R-HSA-9716542 R-HSA-9716542 Reactome Name: Signaling by Rho GTPases, Miro GTPases and RHOBTB3 See in Reactome R-HSA-1266738 R-HSA-1266738 Reactome Name: Developmental Biology See in Reactome	Signal Transduction Developmental Biology	R-HSA-3928578 ( R-HSA-2682334 ) R-HSA-3928578 Reaction Name: EPH receptors autophosphorylate See in Reactome R-HSA-3928584 ( R-HSA-2682334 ) R-HSA-3928584 Reaction Name: p-EPHs bind SRC,FYN,YES,LYN See in Reactome R-HSA-3928591 ( R-HSA-2682334 ) R-HSA-3928591 Reaction Name: EPH:EFN tetramers oligomerise See in Reactome R-HSA-3928597 ( R-HSA-2682334 ) R-HSA-3928597 Reaction Name: EPH:EFN dimers tetramerise See in Reactome R-HSA-3928602 ( R-HSA-2682334; R-HSA-3928663 ) R-HSA-3928602 Reaction Name: NGEF binds EPHA See in Reactome R-HSA-3928604 ( R-HSA-2682334; R-HSA-3928665 ) R-HSA-3928604 Reaction Name: SFKs phosphorylate VAV2,3 See in Reactome R-HSA-3928607 ( R-HSA-2682334; R-HSA-3928665 ) R-HSA-3928607 Reaction Name: p-EPHs bind VAV2,3 See in Reactome R-HSA-3928628 ( R-HSA-2682334; R-HSA-3928665 ) R-HSA-3928628 Reaction Name: VAV exchanges GTP for GDP on RAC1, activating it See in Reactome R-HSA-3928642 ( R-HSA-2682334; R-HSA-3928665 ) R-HSA-3928642 Reaction Name: TIAM1 exchanges GTP for GDP on RAC1, activating it See in Reactome R-HSA-3928646 ( R-HSA-2682334 ) R-HSA-3928646 Reaction Name: EPHAs bind EFNAs See in Reactome R-HSA-3928648 ( R-HSA-2682334; R-HSA-3928663 ) R-HSA-3928648 Reaction Name: SFKs phosphorylate NGEF See in Reactome R-HSA-3928651 ( R-HSA-2682334; R-HSA-3928663 ) R-HSA-3928651 Reaction Name: NGEF exchanges GTP for GDP on RHOA See in Reactome R-HSA-3928660 ( R-HSA-2682334; R-HSA-3928665 ) R-HSA-3928660 Reaction Name: ADAM10 cleaves EFNAs See in Reactome R-HSA-4093327 ( R-HSA-2682334; R-HSA-3928665 ) R-HSA-4093327 Reaction Name: EPHA binds TIAM1 See in Reactome R-HSA-9013145 ( R-HSA-9013149 ) R-HSA-9013145 Reaction Name: RAC1 binds effectors at the plasma membrane See in Reactome R-HSA-9014294 ( R-HSA-9013404 ) R-HSA-9014294 Reaction Name: RAC2 binds effectors at the plasma membrane See in Reactome R-HSA-9014449 ( R-HSA-9013408 ) R-HSA-9014449 Reaction Name: RHOG binds effectors at the plasma membrane See in Reactome R-HSA-9018766 ( R-HSA-9013420 ) R-HSA-9018766 Reaction Name: RHOU binds effectors at the plasma membrane See in Reactome R-HSA-9018794 ( R-HSA-9013424 ) R-HSA-9018794 Reaction Name: RHOV binds effectors at the plasma membrane See in Reactome R-HSA-9018808 ( R-HSA-9013423 ) R-HSA-9018808 Reaction Name: RAC3 binds effectors at the plasma membrane See in Reactome R-HSA-9696266 ( R-HSA-9696270 ) R-HSA-9696266 Reaction Name: RND2 binds effectors See in Reactome R-HSA-9696268 ( R-HSA-9696264 ) R-HSA-9696268 Reaction Name: RND3 binds effectors See in Reactome R-HSA-9696271 ( R-HSA-9696273 ) R-HSA-9696271 Reaction Name: RND1 binds effectors See in Reactome
MONDO:0021548	GCNT2	Q8N0V5	2.4.1.150