DAR - Bologna Biocomputing Group

Search summary (Disease ID: MONDO:0019200)

Number of enzymes:	6
Number of disease:	1
Number of reactomes:	8
Number of reactions:	14

Search results (Disease ID: MONDO:0019200)

DiseaseID	Gene	UniProt	EC numbers	Reactomes	Expanded Reactomes	Reactome roots	Reactions
MONDO:0019200	RDH12	Q96NR8	1.1.1.300	R-HSA-2453902 R-HSA-2453902 Reactome Name: The canonical retinoid cycle in rods (twilight vision) See in Reactome	R-HSA-9709957 R-HSA-9709957 Reactome Name: Sensory Perception See in Reactome R-HSA-2187338 R-HSA-2187338 Reactome Name: Visual phototransduction See in Reactome	Sensory Perception	R-HSA-2464822 ( R-HSA-2453902 ) R-HSA-2464822 Reaction Name: RDH12 reduces atRAL to atROL See in Reactome
MONDO:0019200	LRAT	O95237	2.3.1.135	R-HSA-975634 R-HSA-975634 Reactome Name: Retinoid metabolism and transport See in Reactome R-HSA-2453902 R-HSA-2453902 Reactome Name: The canonical retinoid cycle in rods (twilight vision) See in Reactome	R-HSA-6806667 R-HSA-6806667 Reactome Name: Metabolism of fat-soluble vitamins See in Reactome R-HSA-196854 R-HSA-196854 Reactome Name: Metabolism of vitamins and cofactors See in Reactome R-HSA-1430728 R-HSA-1430728 Reactome Name: Metabolism See in Reactome R-HSA-2187338 R-HSA-2187338 Reactome Name: Visual phototransduction See in Reactome R-HSA-9709957 R-HSA-9709957 Reactome Name: Sensory Perception See in Reactome	Metabolism Sensory Perception	R-HSA-2404137 ( R-HSA-975634 ) R-HSA-2404137 Reaction Name: LRAT esterifies RBP1:atROL and FACYLs to atREs See in Reactome R-HSA-2453855 ( R-HSA-2453902 ) R-HSA-2453855 Reaction Name: LRAT esterifies RBP1:atROL and FACYLs to atREs See in Reactome R-HSA-975608 ( R-HSA-975634 ) R-HSA-975608 Reaction Name: LRAT esterifies RBP2:atROL and FACYLs to atREs See in Reactome
MONDO:0019200	CYP4V2	Q6ZWL3	1.14.14.79 1.14.14.80	R-HSA-211976 R-HSA-211976 Reactome Name: Endogenous sterols See in Reactome R-HSA-2453902 R-HSA-2453902 Reactome Name: The canonical retinoid cycle in rods (twilight vision) See in Reactome	R-HSA-211897 R-HSA-211897 Reactome Name: Cytochrome P450 - arranged by substrate type See in Reactome R-HSA-2187338 R-HSA-2187338 Reactome Name: Visual phototransduction See in Reactome R-HSA-211859 R-HSA-211859 Reactome Name: Biological oxidations See in Reactome R-HSA-9709957 R-HSA-9709957 Reactome Name: Sensory Perception See in Reactome R-HSA-211945 R-HSA-211945 Reactome Name: Phase I - Functionalization of compounds See in Reactome R-HSA-1430728 R-HSA-1430728 Reactome Name: Metabolism See in Reactome	Sensory Perception Metabolism	R-HSA-6786239 ( R-HSA-211976; R-HSA-2453902 ) R-HSA-6786239 Reaction Name: CYP4V2 omega-hydroxylates DHA to HDoHE See in Reactome
MONDO:0019200	PHYH	O14832	1.14.11.18	R-HSA-9033500 R-HSA-9033500 Reactome Name: TYSND1 cleaves peroxisomal proteins See in Reactome R-HSA-9033241 R-HSA-9033241 Reactome Name: Peroxisomal protein import See in Reactome R-HSA-389599 R-HSA-389599 Reactome Name: Alpha-oxidation of phytanate 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-390918 R-HSA-390918 Reactome Name: Peroxisomal lipid metabolism See in Reactome R-HSA-9609507 R-HSA-9609507 Reactome Name: Protein localization See in Reactome R-HSA-8978868 R-HSA-8978868 Reactome Name: Fatty acid metabolism See in Reactome	Metabolism Protein localization	R-HSA-389639 ( R-HSA-389599 ) R-HSA-389639 Reaction Name: phytanoyl-CoA + 2-oxoglutarate + O2 => 2-hydroxyphytanoyl-CoA + succinate + CO2 See in Reactome R-HSA-9033232 ( R-HSA-9033241 ) R-HSA-9033232 Reaction Name: PEX7 binds cargo proteins containing PTS2 See in Reactome R-HSA-9033238 ( R-HSA-9033241 ) R-HSA-9033238 Reaction Name: PEX5L:PEX7:Cargo binds PEX13:PEX14:PEX2:PEX10:PEX12 (Docking and Translocation Module) See in Reactome R-HSA-9033240 ( R-HSA-9033241 ) R-HSA-9033240 Reaction Name: PEX5L binds PEX7:Cargo protein See in Reactome R-HSA-9033490 ( R-HSA-9033241; R-HSA-9033500 ) R-HSA-9033490 Reaction Name: TYSND1 cleaves PHYH See in Reactome R-HSA-9033514 ( R-HSA-9033241 ) R-HSA-9033514 Reaction Name: Cargo of PEX5L:PEX7 translocates from the cytosol to the peroxisomal matrix See in Reactome
MONDO:0019200	ADAM9	Q13443	3.4.24.-	R-HSA-1442490 R-HSA-1442490 Reactome Name: Collagen degradation See in Reactome	R-HSA-1474244 R-HSA-1474244 Reactome Name: Extracellular matrix organization See in Reactome R-HSA-1474228 R-HSA-1474228 Reactome Name: Degradation of the extracellular matrix See in Reactome	Extracellular matrix organization	R-HSA-2168960 ( R-HSA-1442490 ) R-HSA-2168960 Reaction Name: Collagen type XVII ectodomain shedding See in Reactome
MONDO:0019200	LARGE1	O95461	2.4.1.- 2.4.2.- 2.4.-.-	R-HSA-5173105 R-HSA-5173105 Reactome Name: O-linked glycosylation See in Reactome	R-HSA-597592 R-HSA-597592 Reactome Name: Post-translational protein modification See in Reactome R-HSA-392499 R-HSA-392499 Reactome Name: Metabolism of proteins See in Reactome	Metabolism of proteins	R-HSA-9638090 ( R-HSA-5173105 ) R-HSA-9638090 Reaction Name: B4GAT1:LARGE transfers Xyl from UDP-Xyl to GlcA-Xyl-GlcA See in Reactome R-HSA-9638097 ( R-HSA-5173105 ) R-HSA-9638097 Reaction Name: B4GAT1:LARGE transfers GlcA from UDP-GlcA to Xyl-GlcA See in Reactome