DAR - Bologna Biocomputing Group

Search results (Disease ID: MONDO:0001071)

DiseaseID	Gene	UniProt	EC numbers	Reactomes	Expanded Reactomes	Reactome roots	Reactions
MONDO:0001071	CYP2U1	Q7Z449	1.14.14.80	R-HSA-2142816 R-HSA-2142816 Reactome Name: Synthesis of (16-20)-hydroxyeicosatetraenoic acids (HETE) See in Reactome R-HSA-211958 R-HSA-211958 Reactome Name: Miscellaneous substrates See in Reactome	R-HSA-211897 R-HSA-211897 Reactome Name: Cytochrome P450 - arranged by substrate type See in Reactome R-HSA-211859 R-HSA-211859 Reactome Name: Biological oxidations 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 R-HSA-8978868 R-HSA-8978868 Reactome Name: Fatty acid metabolism See in Reactome R-HSA-2142753 R-HSA-2142753 Reactome Name: Arachidonic acid metabolism See in Reactome R-HSA-556833 R-HSA-556833 Reactome Name: Metabolism of lipids See in Reactome	Metabolism	R-HSA-211960 ( R-HSA-211958 ) R-HSA-211960 Reaction Name: CYP2U1 19-hydroxylates ARA See in Reactome R-HSA-2161814 ( R-HSA-2142816 ) R-HSA-2161814 Reaction Name: Arachidonic acid is hydroxylated to 19-HETE by CYP(2) See in Reactome R-HSA-2161940 ( R-HSA-2142816 ) R-HSA-2161940 Reaction Name: Arachidonic acid is hydroxylated to 20-HETE by CYP(3) See in Reactome
MONDO:0001071	DHX16	O60231	3.6.4.13	R-HSA-72163 R-HSA-72163 Reactome Name: mRNA Splicing - Major Pathway See in Reactome	R-HSA-8953854 R-HSA-8953854 Reactome Name: Metabolism of RNA See in Reactome R-HSA-72203 R-HSA-72203 Reactome Name: Processing of Capped Intron-Containing Pre-mRNA See in Reactome R-HSA-72172 R-HSA-72172 Reactome Name: mRNA Splicing See in Reactome	Metabolism of RNA	R-HSA-156661 ( R-HSA-72163 ) R-HSA-156661 Reaction Name: Formation of Exon Junction Complex See in Reactome R-HSA-72130 ( R-HSA-72163 ) R-HSA-72130 Reaction Name: Formation of an intermediate Spliceosomal C complex See in Reactome R-HSA-72139 ( R-HSA-72163 ) R-HSA-72139 Reaction Name: Formation of the active Spliceosomal C complex See in Reactome R-HSA-72143 ( R-HSA-72163 ) R-HSA-72143 Reaction Name: Lariat Formation and 5'-Splice Site Cleavage See in Reactome R-HSA-72160 ( R-HSA-72163 ) R-HSA-72160 Reaction Name: Cleavage at the 3'-Splice Site and Exon Ligation See in Reactome
MONDO:0001071	CBS	P35520	4.2.1.22	R-HSA-1614603 R-HSA-1614603 Reactome Name: Cysteine formation from homocysteine See in Reactome R-HSA-2408508 R-HSA-2408508 Reactome Name: Metabolism of ingested SeMet, Sec, MeSec into H2Se See in Reactome	R-HSA-2408522 R-HSA-2408522 Reactome Name: Selenoamino acid metabolism See in Reactome R-HSA-71291 R-HSA-71291 Reactome Name: Metabolism of amino acids and derivatives See in Reactome R-HSA-1614635 R-HSA-1614635 Reactome Name: Sulfur amino acid metabolism See in Reactome R-HSA-1430728 R-HSA-1430728 Reactome Name: Metabolism See in Reactome	Metabolism	R-HSA-1614524 ( R-HSA-1614603 ) R-HSA-1614524 Reaction Name: PXLP-CBS tetramers condenses HCYS and L-Ser to form L-Cystathionine See in Reactome R-HSA-2408559 ( R-HSA-2408508 ) R-HSA-2408559 Reaction Name: SeHCys and Ser are dehydrated into SeCysta by CBS See in Reactome
MONDO:0001071	POLG	P54098	2.7.7.7
MONDO:0001071	UFSP2	Q9NUQ7	3.4.22.-
MONDO:0001071	P4HTM	Q9NXG6	1.14.11.29
MONDO:0001071	PDIA3	P30101	5.3.4.1	R-HSA-983170 R-HSA-983170 Reactome Name: Antigen Presentation: Folding, assembly and peptide loading of class I MHC See in Reactome R-HSA-901042 R-HSA-901042 Reactome Name: Calnexin/calreticulin cycle See in Reactome R-HSA-1236974 R-HSA-1236974 Reactome Name: ER-Phagosome pathway See in Reactome	R-HSA-168256 R-HSA-168256 Reactome Name: Immune System See in Reactome R-HSA-1236975 R-HSA-1236975 Reactome Name: Antigen processing-Cross presentation See in Reactome R-HSA-392499 R-HSA-392499 Reactome Name: Metabolism of proteins See in Reactome R-HSA-446203 R-HSA-446203 Reactome Name: Asparagine N-linked glycosylation See in Reactome R-HSA-983169 R-HSA-983169 Reactome Name: Class I MHC mediated antigen processing & presentation See in Reactome R-HSA-532668 R-HSA-532668 Reactome Name: N-glycan trimming in the ER and Calnexin/Calreticulin cycle See in Reactome R-HSA-597592 R-HSA-597592 Reactome Name: Post-translational protein modification See in Reactome R-HSA-1280218 R-HSA-1280218 Reactome Name: Adaptive Immune System See in Reactome	Immune System Metabolism of proteins	R-HSA-1236971 ( R-HSA-1236974 ) R-HSA-1236971 Reaction Name: Peptide loading on MHC class I in phagosome See in Reactome R-HSA-548890 ( R-HSA-901042 ) R-HSA-548890 Reaction Name: Removal of the third glucose by glucosidase II and release from the chaperone See in Reactome R-HSA-8863973 ( R-HSA-1236974 ) R-HSA-8863973 Reaction Name: Fusion of ERC and phagosome See in Reactome R-HSA-8951499 ( R-HSA-983170 ) R-HSA-8951499 Reaction Name: Loading of antigenic peptides on to class I MHC See in Reactome R-HSA-901047 ( R-HSA-901042 ) R-HSA-901047 Reaction Name: Binding of ERp57 See in Reactome R-HSA-983142 ( R-HSA-983170 ) R-HSA-983142 Reaction Name: Formation of peptide loading complex (PLC) See in Reactome R-HSA-983146 ( R-HSA-983170 ) R-HSA-983146 Reaction Name: Interaction of beta-2-microglobulin (B2M) chain with class I HC See in Reactome R-HSA-983148 ( R-HSA-983170 ) R-HSA-983148 Reaction Name: Interaction of Erp57 with MHC class I HC See in Reactome R-HSA-983161 ( R-HSA-983170 ) R-HSA-983161 Reaction Name: Dissociation of the Antigenic peptide:MHC:B2M peptide loading complex See in Reactome
MONDO:0001071	DHX30	Q7L2E3	3.6.4.13
MONDO:0001071	TET3	O43151	1.14.11.n2	R-HSA-5221030 R-HSA-5221030 Reactome Name: TET1,2,3 and TDG demethylate DNA See in Reactome	R-HSA-212165 R-HSA-212165 Reactome Name: Epigenetic regulation of gene expression See in Reactome R-HSA-74160 R-HSA-74160 Reactome Name: Gene expression (Transcription) See in Reactome	Gene expression (Transcription)	R-HSA-5220952 ( R-HSA-5221030 ) R-HSA-5220952 Reaction Name: TET1,2,3 oxidizes 5-formylcytosine to 5-carboxylcytosine See in Reactome R-HSA-5220990 ( R-HSA-5221030 ) R-HSA-5220990 Reaction Name: TET1,2,3 oxidizes 5-hydroxymethylcytosine to 5-formylcytosine See in Reactome R-HSA-5221014 ( R-HSA-5221030 ) R-HSA-5221014 Reaction Name: TET1,2,3 oxidizes 5-methylcytosine to 5-hydroxymethylcytosine See in Reactome
MONDO:0001071	ALG3	Q92685	2.4.1.258	R-HSA-446193 R-HSA-446193 Reactome Name: Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein See in Reactome	R-HSA-446203 R-HSA-446203 Reactome Name: Asparagine N-linked glycosylation See in Reactome R-HSA-392499 R-HSA-392499 Reactome Name: Metabolism of proteins See in Reactome R-HSA-597592 R-HSA-597592 Reactome Name: Post-translational protein modification See in Reactome	Metabolism of proteins	R-HSA-446188 ( R-HSA-446193 ) R-HSA-446188 Reaction Name: ALG3 transfers Man to N-glycan precursor (GlcNAc)2 (Man)5 (PP-Dol)1 See in Reactome
MONDO:0001071	NAGLU	P54802	3.2.1.50	R-HSA-2024096 R-HSA-2024096 Reactome Name: HS-GAG degradation See in Reactome	R-HSA-1630316 R-HSA-1630316 Reactome Name: Glycosaminoglycan metabolism See in Reactome R-HSA-1430728 R-HSA-1430728 Reactome Name: Metabolism See in Reactome R-HSA-1638091 R-HSA-1638091 Reactome Name: Heparan sulfate/heparin (HS-GAG) metabolism See in Reactome R-HSA-71387 R-HSA-71387 Reactome Name: Metabolism of carbohydrates See in Reactome	Metabolism	R-HSA-1678742 ( R-HSA-2024096 ) R-HSA-1678742 Reaction Name: NAGLU hydrolyses Heparan sulfate chain(4) See in Reactome R-HSA-2090038 ( R-HSA-2024096 ) R-HSA-2090038 Reaction Name: NAGLU hydrolyses heparan chain(2) See in Reactome
MONDO:0001071	CHD3	Q12873	3.6.4.12	R-HSA-6804758 R-HSA-6804758 Reactome Name: Regulation of TP53 Activity through Acetylation See in Reactome R-HSA-427389 R-HSA-427389 Reactome Name: ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression See in Reactome R-HSA-4551638 R-HSA-4551638 Reactome Name: SUMOylation of chromatin organization proteins See in Reactome R-HSA-73762 R-HSA-73762 Reactome Name: RNA Polymerase I Transcription Initiation See in Reactome R-HSA-3214815 R-HSA-3214815 Reactome Name: HDACs deacetylate histones See in Reactome R-HSA-8943724 R-HSA-8943724 Reactome Name: Regulation of PTEN gene transcription See in Reactome	R-HSA-3700989 R-HSA-3700989 Reactome Name: Transcriptional Regulation by TP53 See in Reactome R-HSA-6807070 R-HSA-6807070 Reactome Name: PTEN Regulation See in Reactome R-HSA-5633007 R-HSA-5633007 Reactome Name: Regulation of TP53 Activity See in Reactome R-HSA-1257604 R-HSA-1257604 Reactome Name: PIP3 activates AKT signaling 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-3108232 R-HSA-3108232 Reactome Name: SUMO E3 ligases SUMOylate target proteins See in Reactome R-HSA-392499 R-HSA-392499 Reactome Name: Metabolism of proteins See in Reactome R-HSA-5250913 R-HSA-5250913 Reactome Name: Positive epigenetic regulation of rRNA expression See in Reactome R-HSA-9006925 R-HSA-9006925 Reactome Name: Intracellular signaling by second messengers See in Reactome R-HSA-73864 R-HSA-73864 Reactome Name: RNA Polymerase I Transcription See in Reactome R-HSA-4839726 R-HSA-4839726 Reactome Name: Chromatin organization See in Reactome R-HSA-2990846 R-HSA-2990846 Reactome Name: SUMOylation See in Reactome R-HSA-212165 R-HSA-212165 Reactome Name: Epigenetic regulation of gene expression See in Reactome R-HSA-597592 R-HSA-597592 Reactome Name: Post-translational protein modification See in Reactome R-HSA-3247509 R-HSA-3247509 Reactome Name: Chromatin modifying enzymes See in Reactome R-HSA-73854 R-HSA-73854 Reactome Name: RNA Polymerase I Promoter Clearance See in Reactome R-HSA-162582 R-HSA-162582 Reactome Name: Signal Transduction See in Reactome R-HSA-73857 R-HSA-73857 Reactome Name: RNA Polymerase II Transcription See in Reactome	Gene expression (Transcription) Metabolism of proteins Chromatin organization Signal Transduction	R-HSA-3769447 ( R-HSA-3214815 ) R-HSA-3769447 Reaction Name: HDAC1:2-containing complex deacetylate histones See in Reactome R-HSA-427336 ( R-HSA-427389 ) R-HSA-427336 Reaction Name: TTF1:rRNA promoter:ERCC6:EHMT2 complex dimethylates histone H3 at lysine-9. See in Reactome R-HSA-427404 ( R-HSA-427389 ) R-HSA-427404 Reaction Name: Recruitment of ERCC6 (CSB), EHMT2 (G9a), and NuRD to the promoter of rRNA gene See in Reactome R-HSA-6805650 ( R-HSA-6804758 ) R-HSA-6805650 Reaction Name: MTA2-NuRD complex deacetylates TP53 See in Reactome R-HSA-73739 ( R-HSA-73762 ) R-HSA-73739 Reaction Name: Recruitment of Acetylated SL1 to phosUBF-1:rDNA Promoter See in Reactome R-HSA-8943780 ( R-HSA-8943724 ) R-HSA-8943780 Reaction Name: SALL4 recruits NuRD to PTEN gene See in Reactome R-HSA-8944104 ( R-HSA-8943724 ) R-HSA-8944104 Reaction Name: PTEN gene transcription is stimulated by TP53, EGR1, PPARG, ATF2, MAF1, and inhibited by NR2E1, SALL4, MECOM, SNAI1, SNAI2, JUN See in Reactome R-HSA-8956365 ( R-HSA-4551638 ) R-HSA-8956365 Reaction Name: ZBED1 (DREF) SUMOylates CHD3 with SUMO1 See in Reactome R-HSA-9679787 ( R-HSA-3214815 ) R-HSA-9679787 Reaction Name: HDAC1:2-containing complex binds HDAC2 Inhibitors See in Reactome
MONDO:0001071	SMPD1	P17405	3.1.4.12	R-HSA-1660662 R-HSA-1660662 Reactome Name: Glycosphingolipid metabolism See in Reactome	R-HSA-556833 R-HSA-556833 Reactome Name: Metabolism of lipids See in Reactome R-HSA-428157 R-HSA-428157 Reactome Name: Sphingolipid metabolism See in Reactome R-HSA-1430728 R-HSA-1430728 Reactome Name: Metabolism See in Reactome	Metabolism	R-HSA-1605797 ( R-HSA-1660662 ) R-HSA-1605797 Reaction Name: Sphingomyelin phosphodiesterase (SMPD1) hydrolyses sphingomyelin to ceramide (lysosome) See in Reactome
MONDO:0001071	DHX34	Q14147	3.6.4.13
MONDO:0001071	GCH1	P30793	3.5.4.16	R-HSA-1474151 R-HSA-1474151 Reactome Name: Tetrahydrobiopterin (BH4) synthesis, recycling, salvage and regulation 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-8978934 R-HSA-8978934 Reactome Name: Metabolism of cofactors See in Reactome	Metabolism	R-HSA-1474146 ( R-HSA-1474151 ) R-HSA-1474146 Reaction Name: GCH1 reduces GTP to dihydroneopterin triphosphate See in Reactome R-HSA-1474158 ( R-HSA-1474151 ) R-HSA-1474158 Reaction Name: GCHFR binds to GCH1 and negatively regulates its activity See in Reactome
MONDO:0001071	CARNMT1	Q8N4J0	2.1.1.22	R-HSA-70921 R-HSA-70921 Reactome Name: Histidine catabolism See in Reactome	R-HSA-71291 R-HSA-71291 Reactome Name: Metabolism of amino acids and derivatives See in Reactome R-HSA-1430728 R-HSA-1430728 Reactome Name: Metabolism See in Reactome	Metabolism	R-HSA-8876789 ( R-HSA-70921 ) R-HSA-8876789 Reaction Name: CARNMT1 methylates CARN to Anserine See in Reactome
MONDO:0001071	CYP27A1	Q02318	1.14.15.15	R-HSA-211976 R-HSA-211976 Reactome Name: Endogenous sterols See in Reactome R-HSA-193807 R-HSA-193807 Reactome Name: Synthesis of bile acids and bile salts via 27-hydroxycholesterol See in Reactome R-HSA-193368 R-HSA-193368 Reactome Name: Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol See in Reactome R-HSA-193775 R-HSA-193775 Reactome Name: Synthesis of bile acids and bile salts via 24-hydroxycholesterol See in Reactome	R-HSA-194068 R-HSA-194068 Reactome Name: Bile acid and bile salt metabolism See in Reactome R-HSA-211859 R-HSA-211859 Reactome Name: Biological oxidations See in Reactome R-HSA-211897 R-HSA-211897 Reactome Name: Cytochrome P450 - arranged by substrate type 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 R-HSA-192105 R-HSA-192105 Reactome Name: Synthesis of bile acids and bile salts See in Reactome R-HSA-556833 R-HSA-556833 Reactome Name: Metabolism of lipids See in Reactome R-HSA-8957322 R-HSA-8957322 Reactome Name: Metabolism of steroids See in Reactome	Metabolism	R-HSA-191999 ( R-HSA-193368 ) R-HSA-191999 Reaction Name: CYP27A1 27-hydroxylates 5bCHOL3a,7a,12a-triol See in Reactome R-HSA-192042 ( R-HSA-193368 ) R-HSA-192042 Reaction Name: 5beta-cholestan-3alpha,7alpha,12alpha,27-tetrol is oxidized to 3alpha,7alpha,12alpha-trihydroxy-5beta-cholestan-27-al See in Reactome R-HSA-192054 ( R-HSA-193368 ) R-HSA-192054 Reaction Name: 3alpha,7alpha,12alpha-trihydroxy-5beta-cholestan-27-al is oxidized to 3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoate (THCA) See in Reactome R-HSA-192123 ( R-HSA-193807; R-HSA-211976 ) R-HSA-192123 Reaction Name: CYP27A1 27-hydroxylates CHOL See in Reactome R-HSA-193393 ( R-HSA-193368 ) R-HSA-193393 Reaction Name: 5beta-cholestan-3alpha, 7alpha-diol is hydroxylated to 5beta-cholestan-3alpha, 7alpha, 26-triol See in Reactome R-HSA-193460 ( R-HSA-193368 ) R-HSA-193460 Reaction Name: 3alpha, 7alpha-dihydroxy-5beta-cholestan-26-al is oxidized to 3alpha, 7alpha-dihydroxy-5beta-cholestanoate (DHCA) See in Reactome R-HSA-193497 ( R-HSA-193368 ) R-HSA-193497 Reaction Name: 5beta-cholestan-3alpha, 7alpha, 26-triol is oxidized to 3alpha, 7alpha-dihydroxy-5beta-cholestan-26-al See in Reactome R-HSA-193713 ( R-HSA-193775 ) R-HSA-193713 Reaction Name: 3alpha,7alpha,12alpha,24(S)-tetrahydroxy-5beta-cholestan-27-al is oxidized to 3alpha,7alpha,12alpha,24(S)-tetrahydroxy-5beta-cholestanoate (TetraHCA) See in Reactome R-HSA-193719 ( R-HSA-193775 ) R-HSA-193719 Reaction Name: 5beta-cholestan-3alpha,7alpha,24(S),27-tetrol is oxidized to 3alpha,7alpha,24(S)-trihydroxy-5beta-cholestan-27-al See in Reactome R-HSA-193737 ( R-HSA-193775 ) R-HSA-193737 Reaction Name: 3alpha,7alpha,24(S)-trihydroxy-5beta-cholestan-27-al is oxidized to 3alpha,7alpha,24(S)-trihydroxy-5beta-cholestanoate (3,7,24THCA) See in Reactome R-HSA-193780 ( R-HSA-193775 ) R-HSA-193780 Reaction Name: 5beta-cholestan-3alpha,7alpha,12alpha,24(S),27-pentol is oxidized to 3alpha,7alpha,12alpha,24(S)-tetrahydroxy-5beta-cholestan-27-al See in Reactome R-HSA-193787 ( R-HSA-193775 ) R-HSA-193787 Reaction Name: 5beta-cholestan-3alpha,7alpha,12alpha,24(S)-tetrol is hydroxylated to 5beta-cholestan-3alpha,7alpha,12alpha,24(S), 27-pentol See in Reactome R-HSA-193792 ( R-HSA-193775 ) R-HSA-193792 Reaction Name: CYP27A1 27-hydroxylates 5β-CHOL3α,7α,24(s)-triol See in Reactome
MONDO:0001071	ABCD1	P33897	3.1.2.- 7.6.2.-	R-HSA-1369062 R-HSA-1369062 Reactome Name: ABC transporters in lipid homeostasis See in Reactome R-HSA-390247 R-HSA-390247 Reactome Name: Beta-oxidation of very long chain fatty acids See in Reactome R-HSA-2046106 R-HSA-2046106 Reactome Name: alpha-linolenic acid (ALA) metabolism See in Reactome R-HSA-9603798 R-HSA-9603798 Reactome Name: Class I peroxisomal membrane protein import See in Reactome R-HSA-2046105 R-HSA-2046105 Reactome Name: Linoleic acid (LA) metabolism See in Reactome	R-HSA-9609507 R-HSA-9609507 Reactome Name: Protein localization See in Reactome R-HSA-382556 R-HSA-382556 Reactome Name: ABC-family proteins mediated transport See in Reactome R-HSA-390918 R-HSA-390918 Reactome Name: Peroxisomal lipid metabolism See in Reactome R-HSA-382551 R-HSA-382551 Reactome Name: Transport of small molecules See in Reactome R-HSA-1430728 R-HSA-1430728 Reactome Name: Metabolism See in Reactome R-HSA-2046104 R-HSA-2046104 Reactome Name: alpha-linolenic (omega3) and linoleic (omega6) acid metabolism See in Reactome R-HSA-556833 R-HSA-556833 Reactome Name: Metabolism of lipids See in Reactome R-HSA-8978868 R-HSA-8978868 Reactome Name: Fatty acid metabolism See in Reactome	Protein localization Transport of small molecules Metabolism	R-HSA-2046087 ( R-HSA-2046106 ) R-HSA-2046087 Reaction Name: Translocation of tetracosahexaenoyl-CoA to peroxisomes See in Reactome R-HSA-2046093 ( R-HSA-2046105 ) R-HSA-2046093 Reaction Name: Translocation of tetracosapentaenoyl-CoA to peroxisomes See in Reactome R-HSA-382575 ( R-HSA-1369062 ) R-HSA-382575 Reaction Name: ABCD1-3 dimers transfer LCFAs from cytosol to peroxisomal matrix See in Reactome R-HSA-382613 ( R-HSA-1369062 ) R-HSA-382613 Reaction Name: PEX-19 docks ABCD1/D2/D3 to peroximal membrane See in Reactome R-HSA-390393 ( R-HSA-390247 ) R-HSA-390393 Reaction Name: Peroxisomal uptake of very long-chain fatty acyl CoA See in Reactome R-HSA-9603775 ( R-HSA-9603798 ) R-HSA-9603775 Reaction Name: PEX3:PEX19:class I PMP dissociates See in Reactome R-HSA-9603784 ( R-HSA-9603798 ) R-HSA-9603784 Reaction Name: PEX19:class I PMP binds PEX3 See in Reactome R-HSA-9603804 ( R-HSA-9603798 ) R-HSA-9603804 Reaction Name: PEX19 binds class I peroxisomal membrane proteins See in Reactome
MONDO:0001071	CHD2	O14647	3.6.4.12
MONDO:0001071	DDX54	Q8TDD1	3.6.4.13
MONDO:0001071	INO80	Q9ULG1	3.6.4.-	R-HSA-5689603 R-HSA-5689603 Reactome Name: UCH proteinases See in Reactome R-HSA-5696394 R-HSA-5696394 Reactome Name: DNA Damage Recognition in GG-NER See in Reactome	R-HSA-5696399 R-HSA-5696399 Reactome Name: Global Genome Nucleotide Excision Repair (GG-NER) See in Reactome R-HSA-5696398 R-HSA-5696398 Reactome Name: Nucleotide Excision Repair See in Reactome R-HSA-5688426 R-HSA-5688426 Reactome Name: Deubiquitination See in Reactome R-HSA-392499 R-HSA-392499 Reactome Name: Metabolism of proteins See in Reactome R-HSA-73894 R-HSA-73894 Reactome Name: DNA Repair See in Reactome R-HSA-597592 R-HSA-597592 Reactome Name: Post-translational protein modification See in Reactome	Metabolism of proteins DNA Repair	R-HSA-5689544 ( R-HSA-5689603 ) R-HSA-5689544 Reaction Name: UCHL5 binds INO80 complex See in Reactome R-HSA-5691006 ( R-HSA-5696394 ) R-HSA-5691006 Reaction Name: XPC:RAD23:CETN2 and UV-DDB bind distorted dsDNA site See in Reactome
MONDO:0001071	PTPN4	P29074	3.1.3.48	R-HSA-9008059 R-HSA-9008059 Reactome Name: Interleukin-37 signaling See in Reactome R-HSA-166016 R-HSA-166016 Reactome Name: Toll Like Receptor 4 (TLR4) Cascade See in Reactome R-HSA-9022699 R-HSA-9022699 Reactome Name: MECP2 regulates neuronal receptors and channels See in Reactome	R-HSA-1280215 R-HSA-1280215 Reactome Name: Cytokine Signaling in Immune system See in Reactome R-HSA-449147 R-HSA-449147 Reactome Name: Signaling by Interleukins 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-168256 R-HSA-168256 Reactome Name: Immune System See in Reactome R-HSA-168898 R-HSA-168898 Reactome Name: Toll-like Receptor Cascades See in Reactome R-HSA-168249 R-HSA-168249 Reactome Name: Innate Immune System See in Reactome R-HSA-8986944 R-HSA-8986944 Reactome Name: Transcriptional Regulation by MECP2 See in Reactome R-HSA-446652 R-HSA-446652 Reactome Name: Interleukin-1 family signaling See in Reactome R-HSA-73857 R-HSA-73857 Reactome Name: RNA Polymerase II Transcription See in Reactome	Gene expression (Transcription) Immune System	R-HSA-2201341 ( R-HSA-166016 ) R-HSA-2201341 Reaction Name: Endocytosis of TRAM (TICAM2) See in Reactome R-HSA-9006585 ( R-HSA-9022699 ) R-HSA-9006585 Reaction Name: PTPN4 gene expression is stimulated by MECP2 See in Reactome R-HSA-9008894 ( R-HSA-9008059 ) R-HSA-9008894 Reaction Name: PTPNs gene transcription and translation See in Reactome
MONDO:0001071	DHX37	Q8IY37	3.6.4.13	R-HSA-6791226 R-HSA-6791226 Reactome Name: Major pathway of rRNA processing in the nucleolus and cytosol See in Reactome R-HSA-6790901 R-HSA-6790901 Reactome Name: rRNA modification in the nucleus and cytosol See in Reactome	R-HSA-8953854 R-HSA-8953854 Reactome Name: Metabolism of RNA See in Reactome R-HSA-8868773 R-HSA-8868773 Reactome Name: rRNA processing in the nucleus and cytosol See in Reactome R-HSA-72312 R-HSA-72312 Reactome Name: rRNA processing See in Reactome	Metabolism of RNA	R-HSA-6790906 ( R-HSA-6790901 ) R-HSA-6790906 Reaction Name: EMG1 of the SSU processome methylates pseudouridine-1248 of 18S rRNA yielding N(1)-methylpseudouridine-1248 See in Reactome R-HSA-6791221 ( R-HSA-6791226 ) R-HSA-6791221 Reaction Name: 30S pre-rRNA is nucleolytically processed at site 1 to yield 21S pre-rRNA See in Reactome R-HSA-6791222 ( R-HSA-6791226 ) R-HSA-6791222 Reaction Name: 21S pre-rRNA is nucleolytically processed at site E (site2a) to yield 18SE pre-rRNA See in Reactome R-HSA-6791227 ( R-HSA-6791226 ) R-HSA-6791227 Reaction Name: 47S pre-rRNA is nucleolytically processed at A' (01,A1), site A0, and site 02 (site 6) to yield 45S pre-rRNA See in Reactome R-HSA-6791228 ( R-HSA-6791226 ) R-HSA-6791228 Reaction Name: 45S pre-rRNA is nucleolytically processed at site 2 (site 2b) to yield 30S pre-rRNA and 32S pre-rRNA See in Reactome

Number of enzymes:	23
Number of disease:	1
Number of reactomes:	36
Number of reactions:	69

Search summary (Disease ID: MONDO:0001071)

Search results (Disease ID: MONDO:0001071)

MONDO:0001071

R-HSA-2142816

R-HSA-211958

R-HSA-211897

R-HSA-211859

R-HSA-211945

R-HSA-1430728

R-HSA-8978868

R-HSA-2142753

R-HSA-556833

R-HSA-211960

R-HSA-2161814

R-HSA-2161940

MONDO:0001071

R-HSA-72163

R-HSA-8953854

R-HSA-72203

R-HSA-72172

R-HSA-156661

R-HSA-72130

R-HSA-72139

R-HSA-72143

R-HSA-72160

MONDO:0001071

R-HSA-1614603

R-HSA-2408508

R-HSA-2408522

R-HSA-71291

R-HSA-1614635

R-HSA-1430728

R-HSA-1614524

R-HSA-2408559

MONDO:0001071

MONDO:0001071

MONDO:0001071

MONDO:0001071

R-HSA-983170

R-HSA-901042

R-HSA-1236974

R-HSA-168256

R-HSA-1236975

R-HSA-392499

R-HSA-446203

R-HSA-983169

R-HSA-532668

R-HSA-597592

R-HSA-1280218

R-HSA-1236971

R-HSA-548890

R-HSA-8863973

R-HSA-8951499

R-HSA-901047

R-HSA-983142

R-HSA-983146

R-HSA-983148

R-HSA-983161

MONDO:0001071

MONDO:0001071

R-HSA-5221030

R-HSA-212165

R-HSA-74160

R-HSA-5220952

R-HSA-5220990

R-HSA-5221014

MONDO:0001071

R-HSA-446193

R-HSA-446203

R-HSA-392499

R-HSA-597592

R-HSA-446188

MONDO:0001071

R-HSA-2024096

R-HSA-1630316

R-HSA-1430728

R-HSA-1638091

R-HSA-71387

R-HSA-1678742

R-HSA-2090038