GlyCosmos Portal

Homo sapiens (human)

Summary

Taxonomy ID: 9606
PubChem Taxonomy: 9606

Genes (10109) Glycans (5831) Glycoproteins (15837) Lectins (297) Pathways (2074)

Displaying entries **1201 - 1225** of **2074** in total

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Pathway Name	Protein Name	UniProt ID	Gene Symbol
Molybdenum cofactor biosynthesis	Adenylyltransferase and sulfurtransferase MOCS3 Gephyrin Molybdenum cofactor sulfurase Molybdopterin synthase catalytic subunit Molybdopterin synthase sulfur carrier subunit	O95396 O96007 O96033 Q96EN8 Q9NQX3	GPH GPHN KIAA1385 MCBPE MOCO1 MOCOS MOCS2 MOCS3 UBA4
RHO GTPases Activate Formins	Actin, cytoplasmic 1 Actin, cytoplasmic 2 Aurora kinase B B9 domain-containing protein 2 Baculoviral IAP repeat-containing protein 5 Borealin CAP-Gly domain-containing linker protein 1 CLIP-associating protein 1 CLIP-associating protein 2 Cell division control protein 42 homolog Cell division cycle protein 20 homolog Centromere protein C Centromere protein F Centromere protein H Centromere protein I Centromere protein K Centromere protein L Centromere protein M Centromere protein N Centromere protein O Centromere protein P Centromere protein Q Centromere protein R Centromere protein S Centromere protein T Centromere protein U Centromere-associated protein E Centromere/kinetochore protein zw10 homolog Cytoplasmic dynein 1 heavy chain 1 Cytoplasmic dynein 1 intermediate chain 1 Cytoplasmic dynein 1 intermediate chain 2 Cytoplasmic dynein 1 light intermediate chain 1 Cytoplasmic dynein 1 light intermediate chain 2 Cytoskeleton-associated protein 5 DNA excision repair protein ERCC-6-like Disheveled-associated activator of morphogenesis 1 Dynein light chain 1, cytoplasmic Dynein light chain 2, cytoplasmic E3 SUMO-protein ligase RanBP2 Ena/VASP-like protein Exportin-1 Formin-like protein 1 Formin-like protein 2 Formin-like protein 3 Histone H3-like centromeric protein A Inner centromere protein Integrin beta-1 Kinesin-like protein KIF18A Kinesin-like protein KIF2A Kinesin-like protein KIF2B Kinesin-like protein KIF2C Kinetochore protein NDC80 homolog Kinetochore protein Nuf2 Kinetochore protein Spc24 Kinetochore protein Spc25 Kinetochore scaffold 1 Kinetochore-associated protein 1 Kinetochore-associated protein DSN1 homolog Kinetochore-associated protein NSL1 homolog Microtubule-associated protein RP/EB family member 1 Mitotic checkpoint protein BUB3 Mitotic checkpoint serine/threonine-protein kinase BUB1 beta Mitotic checkpoint serine/threonine-protein kinase BUB1 Mitotic spindle assembly checkpoint protein MAD1 Mitotic spindle assembly checkpoint protein MAD2A Myocardin-related transcription factor A Nuclear distribution protein nudE homolog 1 Nuclear distribution protein nudE-like 1 Nuclear migration protein nudC Nuclear pore complex protein Nup107 Nuclear pore complex protein Nup133 Nuclear pore complex protein Nup160 Nuclear pore complex protein Nup85 Nucleoporin Nup37 Nucleoporin Nup43 Platelet-activating factor acetylhydrolase IB subunit beta Polyamine-modulated factor 1 Profilin-1 Profilin-2 Protein ELYS Protein MIS12 homolog Protein RCC2 Protein SCAI Protein SEC13 homolog Protein Spindly Protein diaphanous homolog 1 Protein diaphanous homolog 3 Protein zwilch homolog Ran GTPase-activating protein 1 Ras-related C3 botulinum toxin substrate 1 Rho-related GTP-binding protein RhoB Rho-related GTP-binding protein RhoC Rho-related GTP-binding protein RhoD SKA complex subunit 1 SLIT-ROBO Rho GTPase-activating protein 2 Segment polarity protein dishevelled homolog DVL-1 Segment polarity protein dishevelled homolog DVL-2 Segment polarity protein dishevelled homolog DVL-3 Serine/threonine-protein kinase PLK1 Serine/threonine-protein kinase TAO1 Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit alpha isoform Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit beta isoform Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit delta isoform Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit epsilon isoform Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit gamma isoform Serine/threonine-protein phosphatase 2A 65 kDa regulatory subunit A alpha isoform Serine/threonine-protein phosphatase 2A 65 kDa regulatory subunit A beta isoform Serine/threonine-protein phosphatase 2A catalytic subunit alpha isoform Serine/threonine-protein phosphatase 2A catalytic subunit beta isoform Serine/threonine-protein phosphatase PP1-gamma catalytic subunit Serum response factor Shugoshin 1 Shugoshin 2 Small ribosomal subunit protein eS27 Spindle and kinetochore-associated protein 2 Transforming protein RhoA ZW10 interactor	O00139 O00212 O14576 O14640 O14641 O14777 O14980 O15392 O43237 O43264 O43683 O43684 O60566 O60610 O75044 O75122 O95229 O95466 P05556 P07737 P08134 P11831 P30153 P30154 P30622 P35080 P36873 P42677 P43034 P46060 P49450 P49454 P49792 P50748 P53350 P55735 P57740 P60709 P60953 P61586 P62714 P62745 P63000 P63167 P63261 P67775 Q02224 Q03188 Q12769 Q12834 Q13257 Q13352 Q13362 Q13409 Q14008 Q14204 Q14738 Q15172 Q15173 Q15691 Q16537 Q2NKX8 Q53HL2 Q562F6 Q5FBB7 Q6IPU0 Q6P1K2 Q71F23 Q7L2Z9 Q7L7X3 Q7Z460 Q8IVF7 Q8N0S6 Q8N2Z9 Q8N4N8 Q8N9R8 Q8NBT2 Q8NFH3 Q8NFH4 Q8NG31 Q8NI77 Q8WUM0 Q8WVK7 Q8WYP5 Q92674 Q92997 Q969V6 Q96BD8 Q96BT3 Q96EA4 Q96FJ2 Q96GD4 Q96H22 Q96IY1 Q96PY5 Q99661 Q9BPU9 Q9BS16 Q9BU64 Q9BW27 Q9BZD4 Q9GZM8 Q9H081 Q9H3R5 Q9H410 Q9H900 Q9HBM1 Q9NQS7 Q9NSP4 Q9NSV4 Q9NXR1 Q9P258 Q9UI08 Q9Y266 Q9Y4D1 Q9Y6D9 Q9Y6G9	ACTB ACTG ACTG1 AHCTF1 AIK2 AIM1 AIRK2 API4 APITD1 ARH12 ARH6 ARH9 ARHA ARHB ARHC ARHD ARHGAP34 ARK2 AURKB B9D2 BIRC5 BUB1 BUB1B BUB1L BUB3 BUBR1 C16orf56 C16orf60 C17orf1 C17orf1B C18orf24 C1orf155 C1orf48 C20orf172 C22orf18 C6orf139 C9orf126 CASC5 CCDC99 CDC20 CDC42 CDCA1 CDCA8 CENPA CENPC CENPC1 CENPE CENPF CENPH CENPI CENPK CENPL CENPM CENPN CENPO CENPP CENPQ CENPR CENPS CENPT CENPU CKAP5 CLASP1 CLASP2 CLIP1 CRM1 CYLN1 D3S1231E DAAM1 DHC1 DIAP1 DIAP3 DIAPH1 DIAPH3 DLC1 DLC2 DNCH1 DNCI1 DNCI2 DNCIC1 DNCIC2 DNCL DNCL1 DNCLC1 DNCLI1 DNCLI2 DNECL DSN1 DVL1 DVL2 DVL3 DYHC DYNC1H1 DYNC1I1 DYNC1I2 DYNC1LI1 DYNC1LI2 DYNLL1 DYNLL2 ELYS EOPA ERCC6L EVL FAAP16 FAM33A FHOD2 FHOD3 FMNL FMNL1 FMNL2 FMNL3 FNBP2 FNRB FRL1 FRL2 FSHPRH1 HDLC1 HEC HEC1 IAP4 ICEN19 ICEN22 ICEN24 ICEN32 ICEN33 ICEN35 ICEN36 ICEN37 ICEN39 ICEN7 INCENP ITGB1 ITGB3BP KIAA0044 KIAA0097 KIAA0166 KIAA0197 KIAA0208 KIAA0325 KIAA0456 KIAA0622 KIAA0627 KIAA0666 KIAA1361 KIAA1438 KIAA1470 KIAA1570 KIAA1835 KIAA1902 KIAA2014 KIF18A KIF2 KIF2A KIF2B KIF2C KLIP1 KNL1 KNS2 KNSL6 KNTC1 KNTC2 LIC2 LIS1 LRPR1 MAD1 MAD1L1 MAD2 MAD2L1 MAD3L MAL MAP3K16 MAPRE1 MARKK MAST1 MCM21R MDCR MDF2 MDS MHF1 MIS12 MIS13 MITAP1 MKL1 MKSR2 MLF1IP MPS1 MRTFA MSK12 NDC80 NDE1 NDEL1 NRIF3 NSL1 NUDC NUDE NUDEL NUF2 NUF2R NUP107 NUP120 NUP133 NUP160 NUP358 NUP37 NUP43 NUP75 NUP85 PAFAH1B1 PAFAHA PANE1 PBIP1 PCNT1 PESCRG3 PFN1 PFN2 PICH PLK PLK1 PMF1 PPP1CC PPP2CA PPP2CB PPP2R1A PPP2R1B PPP2R5A PPP2R5B PPP2R5C PPP2R5D PPP2R5E RAC1 RANBP2 RANGAP1 RCC2 RHO12 RHOA RHOB RHOC RHOD RNB6 ROD RPS27 RSN SCAI SD SEC13 SEC13A SEC13L1 SEC13R SGO1 SGO2 SGOL1 SGOL2 SKA1 SKA2 SPBC24 SPBC25 SPC24 SPC25 SPDL1 SRF SRGAP2 SRGAP2A SSK1 STK1 STK12 STK5 TAOK1 TC25 TD60 TMBS62 TXBP181 WBP3 XPO1 ZW10 ZWILCH ZWINT
Nitric oxide stimulates guanylate cyclase	Guanylate cyclase soluble subunit alpha-1 Guanylate cyclase soluble subunit alpha-2 Guanylate cyclase soluble subunit beta-1 Guanylate cyclase soluble subunit beta-2 Nitric oxide synthase 1 Nitric oxide synthase 3 Nitric oxide synthase, inducible	O75343 P29474 P29475 P33402 P35228 Q02108 Q02153	GUC1A2 GUC1A3 GUC1B3 GUCSA2 GUCSA3 GUCSB3 GUCY1A1 GUCY1A2 GUCY1A3 GUCY1B1 GUCY1B2 GUCY1B3 NOS1 NOS2 NOS2A NOS3
Translation of respiratory syncytial virus mRNAs	Fusion glycoprotein F0 Matrix protein Non-structural protein 1 Non-structural protein 2 Nucleoprotein Phosphoprotein Protein M2-1 Protein M2-2 RNA-directed RNA polymerase L	P03418 P03420 P03421 P04543 P04545 P0DOE7 P0DOE9 P28887 P88812	1B 1C F L M M2-1 M2-2 N NS1 NS2 P
tamatinib-resistant FLT3 mutants	Receptor-type tyrosine-protein kinase FLT3	P36888	CD135 FLK2 FLT3 STK1
Defective MOGS causes CDG-2b	Mannosyl-oligosaccharide glucosidase	Q13724	GCS1 MOGS
Potassium transport channels	ATP-sensitive inward rectifier potassium channel 10 ATP-sensitive inward rectifier potassium channel 1 Inward rectifier potassium channel 16	P48048 P78508 Q9NPI9	KCNJ1 KCNJ10 KCNJ16 ROMK1
Assembly Of The HIV Virion	Envelope glycoprotein gp160 Gag polyprotein Gag-Pol polyprotein Peptidyl-prolyl cis-trans isomerase A Polyubiquitin-B Polyubiquitin-C Protein Nef Protein Rev Protein Vpr Protein Vpu Ubiquitin-ribosomal protein eL40 fusion protein Ubiquitin-ribosomal protein eS31 fusion protein Virion infectivity factor	P04578 P04585 P04591 P04601 P04618 P05919 P0CG47 P0CG48 P62937 P62979 P62987 P69723 P69726	CYPA PPIA RPS27A UBA52 UBA80 UBB UBC UBCEP1 UBCEP2 env gag gag-pol nef rev vif vpr vpu
Mitochondrial translation elongation	Alpha-ketoglutarate dehydrogenase component 4 Elongation factor G, mitochondrial Elongation factor Ts, mitochondrial Elongation factor Tu, mitochondrial GTPase Era, mitochondrial Large ribosomal subunit protein bL12m Large ribosomal subunit protein bL17m Large ribosomal subunit protein bL19m Large ribosomal subunit protein bL20m Large ribosomal subunit protein bL21m Large ribosomal subunit protein bL27m Large ribosomal subunit protein bL28m Large ribosomal subunit protein bL32m Large ribosomal subunit protein bL33m Large ribosomal subunit protein bL34m Large ribosomal subunit protein bL35m Large ribosomal subunit protein bL36m Large ribosomal subunit protein bL9m Large ribosomal subunit protein mL37 Large ribosomal subunit protein mL38 Large ribosomal subunit protein mL39 Large ribosomal subunit protein mL40 Large ribosomal subunit protein mL41 Large ribosomal subunit protein mL42 Large ribosomal subunit protein mL43 Large ribosomal subunit protein mL44 Large ribosomal subunit protein mL45 Large ribosomal subunit protein mL46 Large ribosomal subunit protein mL48 Large ribosomal subunit protein mL49 Large ribosomal subunit protein mL50 Large ribosomal subunit protein mL51 Large ribosomal subunit protein mL52 Large ribosomal subunit protein mL53 Large ribosomal subunit protein mL54 Large ribosomal subunit protein mL55 Large ribosomal subunit protein mL62 Large ribosomal subunit protein mL63 Large ribosomal subunit protein mL64 Large ribosomal subunit protein mL65 Large ribosomal subunit protein mL66 Large ribosomal subunit protein uL10m Large ribosomal subunit protein uL11m Large ribosomal subunit protein uL13m Large ribosomal subunit protein uL14m Large ribosomal subunit protein uL15m Large ribosomal subunit protein uL16m Large ribosomal subunit protein uL18m Large ribosomal subunit protein uL1m Large ribosomal subunit protein uL22m Large ribosomal subunit protein uL23m Large ribosomal subunit protein uL24m Large ribosomal subunit protein uL29m Large ribosomal subunit protein uL2m Large ribosomal subunit protein uL30m Large ribosomal subunit protein uL3m Large ribosomal subunit protein uL4m Mitochondrial inner membrane protein OXA1L Small ribosomal subunit protein bS16m Small ribosomal subunit protein bS18m Small ribosomal subunit protein bS1m Small ribosomal subunit protein bS21m Small ribosomal subunit protein bS6m Small ribosomal subunit protein mS22 Small ribosomal subunit protein mS23 Small ribosomal subunit protein mS25 Small ribosomal subunit protein mS26 Small ribosomal subunit protein mS27 Small ribosomal subunit protein mS29 Small ribosomal subunit protein mS31 Small ribosomal subunit protein mS33 Small ribosomal subunit protein mS34 Small ribosomal subunit protein mS35 Small ribosomal subunit protein mS37 Small ribosomal subunit protein mS38 Small ribosomal subunit protein mS39 Small ribosomal subunit protein mS40 Small ribosomal subunit protein uS10m Small ribosomal subunit protein uS11m Small ribosomal subunit protein uS12m Small ribosomal subunit protein uS14m Small ribosomal subunit protein uS15m Small ribosomal subunit protein uS17m Small ribosomal subunit protein uS2m Small ribosomal subunit protein uS3m Small ribosomal subunit protein uS5m Small ribosomal subunit protein uS7m Small ribosomal subunit protein uS9m	O15235 O60783 O75394 O75616 P09001 P43897 P49406 P49411 P51398 P52815 P82650 P82663 P82664 P82673 P82675 P82909 P82912 P82914 P82921 P82930 P82932 P82933 Q13084 Q13405 Q14197 Q15070 Q16540 Q4U2R6 Q5T653 Q6P161 Q6P1L8 Q7Z2W9 Q7Z7F7 Q7Z7H8 Q86TS9 Q8IXM3 Q8N5N7 Q8N983 Q8TAE8 Q8TCC3 Q92552 Q92665 Q96A35 Q96BP2 Q96DV4 Q96EL2 Q96EL3 Q96EY7 Q96GC5 Q96RP9 Q9BQ48 Q9BQC6 Q9BRJ2 Q9BYC8 Q9BYC9 Q9BYD1 Q9BYD2 Q9BYD3 Q9BYD6 Q9BYN8 Q9BZE1 Q9H0U6 Q9H2W6 Q9H9J2 Q9HD33 Q9NP92 Q9NQ50 Q9NRX2 Q9NVS2 Q9NWT8 Q9NWU5 Q9NX20 Q9NYK5 Q9NZE8 Q9P015 Q9P0J6 Q9P0M9 Q9Y291 Q9Y2Q9 Q9Y2R5 Q9Y2R9 Q9Y399 Q9Y3B7 Q9Y3D3 Q9Y3D5 Q9Y3D9 Q9Y676 Q9Y6G3	AIP AKIP AURKAIP1 BMRP BRIP1 C10orf34 C11orf4 C15orf4 C20orf193 C21orf101 C21orf92 C2orf1 C3orf5 C6orf14 CHCHD1 DAP3 DS1 EFG EFG1 ERAL1 GADD45GIP1 GFM GFM1 HERA ICT1 IMOGN38 KGD4 KIAA0104 KIAA0264 L23MRP LIECG2 LIP2 MAAT1 MRL3 MRP63 MRP64 MRPL1 MRPL10 MRPL11 MRPL12 MRPL13 MRPL14 MRPL15 MRPL16 MRPL17 MRPL18 MRPL19 MRPL2 MRPL20 MRPL21 MRPL22 MRPL23 MRPL24 MRPL25 MRPL27 MRPL28 MRPL3 MRPL30 MRPL31 MRPL32 MRPL33 MRPL34 MRPL35 MRPL36 MRPL37 MRPL38 MRPL39 MRPL4 MRPL40 MRPL41 MRPL42 MRPL43 MRPL44 MRPL45 MRPL46 MRPL47 MRPL48 MRPL49 MRPL5 MRPL50 MRPL51 MRPL52 MRPL53 MRPL54 MRPL55 MRPL57 MRPL58 MRPL59 MRPL7 MRPL8 MRPL9 MRPS10 MRPS11 MRPS12 MRPS14 MRPS15 MRPS16 MRPS17 MRPS18A MRPS18B MRPS18C MRPS2 MRPS21 MRPS22 MRPS23 MRPS24 MRPS25 MRPS26 MRPS27 MRPS28 MRPS29 MRPS30 MRPS31 MRPS32 MRPS33 MRPS34 MRPS35 MRPS36 MRPS37 MRPS38 MRPS39 MRPS5 MRPS6 MRPS7 MRPS9 NCM1 NLVCF NOF1 OXA1L PDCD9 PLINP1 PRG6 PTCD3 RPL23L RPML12 RPML2 RPML25 RPML27 RPML28 RPML3 RPML31 RPML32 RPML5 RPML8 RPMS11 RPMS12 RPMS13 RPMS15 RPMS16 RPMS17 RPMS21 RPMS22 RPMS25 RPMS6 RPMS9 RPSM12 TSFM TUFM URIM
Regulation of MITF-M-dependent genes involved in lysosome biogenesis and autophagy	Acid ceramidase V-type proton ATPase 16 kDa proteolipid subunit c V-type proton ATPase 21 kDa proteolipid subunit c'' V-type proton ATPase catalytic subunit A V-type proton ATPase subunit B, brain isoform V-type proton ATPase subunit C 1 V-type proton ATPase subunit E 1 V-type proton ATPase subunit G 1 V-type proton ATPase subunit H V-type proton ATPase subunit d 1 V-type proton ATPase subunit e 1	O15342 O75348 P21281 P21283 P27449 P36543 P38606 P61421 Q13510 Q99437 Q9UI12	ASAH ASAH1 ATP6A1 ATP6B2 ATP6C ATP6D ATP6E ATP6E2 ATP6F ATP6G ATP6G1 ATP6H ATP6J ATP6L ATP6V0B ATP6V0C ATP6V0D1 ATP6V0E ATP6V0E1 ATP6V1A ATP6V1A1 ATP6V1B2 ATP6V1C1 ATP6V1E1 ATP6V1G1 ATP6V1H ATPL VATC VPATPD VPP2 VPP3
Translation of Accessory Proteins	ORF6 protein ORF7a protein ORF8 protein ORF9b protein	P0DTC6 P0DTC7 P0DTC8 P0DTD2	6 7a 8 9b
PP2A-mediated dephosphorylation of key metabolic factors	6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 1 Carbohydrate-responsive element-binding protein Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit delta isoform Serine/threonine-protein phosphatase 2A 65 kDa regulatory subunit A alpha isoform Serine/threonine-protein phosphatase 2A 65 kDa regulatory subunit A beta isoform Serine/threonine-protein phosphatase 2A catalytic subunit alpha isoform Serine/threonine-protein phosphatase 2A catalytic subunit beta isoform	P16118 P30153 P30154 P62714 P67775 Q14738 Q9NP71	BHLHD14 F6PK MIO MLXIPL PFKFB1 PFRX PPP2CA PPP2CB PPP2R1A PPP2R1B PPP2R5D WBSCR14
Gastrin-CREB signalling pathway via PKC and MAPK	Gastrin/cholecystokinin type B receptor Gastrin Mitogen-activated protein kinase 1 Mitogen-activated protein kinase 3 Mitogen-activated protein kinase 7 Ribosomal protein S6 kinase alpha-1 Ribosomal protein S6 kinase alpha-2 Ribosomal protein S6 kinase alpha-3	P01350 P27361 P28482 P32239 P51812 Q13164 Q15349 Q15418	BMK1 CCKBR CCKRB ERK1 ERK2 ERK5 GAS GAST ISPK1 MAPK1 MAPK3 MAPK7 MAPKAPK1A MAPKAPK1B MAPKAPK1C PRKM1 PRKM2 PRKM3 PRKM7 RPS6KA1 RPS6KA2 RPS6KA3 RSK1 RSK2 RSK3
TP53 regulates transcription of several additional cell death genes whose specific roles in p53-dependent apoptosis remain uncertain	Apoptosis facilitator Bcl-2-like protein 14 Apoptosis-stimulating of p53 protein 1 Apoptosis-stimulating of p53 protein 2 B-cell lymphoma 6 protein Baculoviral IAP repeat-containing protein 5 Cellular tumor antigen p53 Geranylgeranyl transferase type-2 subunit alpha Geranylgeranyl transferase type-2 subunit beta Protein NDRG1 Quinone oxidoreductase PIG3 Rab proteins geranylgeranyltransferase component A 1 Tumor protein 63 Tumor protein p73 p53 apoptosis effector related to PMP-22	O15350 O15392 P04637 P24386 P41182 P53611 Q13625 Q53FA7 Q92597 Q92696 Q96FX8 Q96KQ4 Q9BZR8 Q9H3D4	API4 ASPP1 ASPP2 BBP BCL2L14 BCL5 BCL6 BCLG BIRC5 CAP43 CHM DRG1 GGTB IAP4 KCP1 KET KIAA0771 KRTCAP1 LAZ3 NDRG1 P53 P63 P73 P73H P73L PERP PIG3 PIGPC1 PPP1R13B RABGGTA RABGGTB REP1 RTP TCD THW TP53 TP53BP2 TP53I3 TP63 TP73 TP73L ZBTB27 ZNF51
RUNX3 regulates BCL2L11 (BIM) transcription	Bcl-2-like protein 11 Forkhead box protein O3 Mothers against decapentaplegic homolog 3 Mothers against decapentaplegic homolog 4 Runt-related transcription factor 3	O43521 O43524 P84022 Q13485 Q13761	AML2 BCL2L11 BIM CBFA3 DPC4 FKHRL1 FOXO3 FOXO3A MADH3 MADH4 PEBP2A3 RUNX3 SMAD3 SMAD4
MPS I - Hurler syndrome	Alpha-L-iduronidase	P35475	IDUA
Nonhomologous End-Joining (NHEJ)	BRCA1-A complex subunit Abraxas 1 BRCA1-A complex subunit RAP80 BRCA1-associated RING domain protein 1 BRISC and BRCA1-A complex member 1 BRISC and BRCA1-A complex member 2 Breast cancer type 1 susceptibility protein DNA ligase 4 DNA polymerase lambda DNA repair protein RAD50 DNA repair protein XRCC4 DNA-dependent protein kinase catalytic subunit DNA-directed DNA/RNA polymerase mu Double-strand break repair protein MRE11 E3 SUMO-protein ligase PIAS4 E3 ubiquitin-protein ligase HERC2 E3 ubiquitin-protein ligase RNF168 E3 ubiquitin-protein ligase RNF8 Histone H2AX Histone H2B type 1-A Histone H2B type 1-B Histone H2B type 1-C/E/F/G/I Histone H2B type 1-D Histone H2B type 1-H Histone H2B type 1-J Histone H2B type 1-K Histone H2B type 1-L Histone H2B type 1-M Histone H2B type 1-N Histone H2B type 1-O Histone H2B type 2-E Histone H2B type 3-B Histone H2B type F-S Histone H3.1t Histone H4 Histone acetyltransferase KAT5 Histone-lysine N-methyltransferase NSD2 Lys-63-specific deubiquitinase BRCC36 Mediator of DNA damage checkpoint protein 1 Nibrin Non-homologous end-joining factor 1 PAX-interacting protein 1 Protein artemis Serine-protein kinase ATM TP53-binding protein 1 Telomere-associated protein RIF1 Tyrosyl-DNA phosphodiesterase 1 Tyrosyl-DNA phosphodiesterase 2 Ubiquitin-conjugating enzyme E2 N Ubiquitin-conjugating enzyme E2 variant 2 X-ray repair cross-complementing protein 5 X-ray repair cross-complementing protein 6	O60814 O60934 O76064 O95551 O95714 O96028 P06899 P12956 P13010 P16104 P23527 P33778 P38398 P46736 P49917 P49959 P57053 P58876 P61088 P62805 P62807 P78527 Q12888 Q13315 Q13426 Q14676 Q15819 Q16695 Q16778 Q5UIP0 Q6UWZ7 Q6ZW49 Q8IYW5 Q8N257 Q8N2W9 Q92878 Q92993 Q93079 Q96A08 Q96RL1 Q96SD1 Q99728 Q99877 Q99879 Q99880 Q9H9Q4 Q9NP87 Q9NUW8 Q9NWV8 Q9NXR7 Q9UGP5	ABRA1 ABRAXAS1 ARTEMIS ASCID ATM BABAM1 BABAM2 BARD1 BLU BRCA1 BRCC3 BRCC36 BRCC45 BRE C19orf62 C6.1A CCDC98 CXorf53 DCLRE1C EAP2 FAM175A G22P1 G22P2 H2AFX H2AX H2BC1 H2BC10 H2BC11 H2BC12 H2BC12L H2BC13 H2BC14 H2BC15 H2BC17 H2BC21 H2BC26 H2BC3 H2BC4 H2BC5 H2BC6 H2BC7 H2BC8 H2BC9 H2BFA H2BFB H2BFC H2BFD H2BFE H2BFF H2BFG H2BFH H2BFJ H2BFK H2BFL H2BFN H2BFQ H2BFR H2BFS H2BFT H2BS1 H2BU1 H3-4 H3FT H4-16 H4/A H4/B H4/C H4/D H4/E H4/G H4/H H4/I H4/J H4/K H4/M H4/N H4/O H4C1 H4C11 H4C12 H4C13 H4C14 H4C15 H4C16 H4C2 H4C3 H4C4 H4C5 H4C6 H4C8 H4C9 H4F2 H4FA H4FB H4FC H4FD H4FE H4FG H4FH H4FI H4FJ H4FK H4FM H4FN H4FO HERC2 HIRIP1 HIRIP2 HIST1H2BA HIST1H2BB HIST1H2BC HIST1H2BD HIST1H2BE HIST1H2BF HIST1H2BG HIST1H2BH HIST1H2BI HIST1H2BJ HIST1H2BK HIST1H2BL HIST1H2BM HIST1H2BN HIST1H2BO HIST1H4A HIST1H4B HIST1H4C HIST1H4D HIST1H4E HIST1H4F HIST1H4H HIST1H4I HIST1H4J HIST1H4K HIST1H4L HIST2H2BE HIST2H4 HIST2H4A HIST2H4B HIST3H2BB HIST3H3 HIST4H4 HNGS1 HTATIP HYRC HYRC1 KAT5 KIAA0170 KIAA0646 KIAA1090 LIG4 MDC1 MERIT40 MMS2 MMSET MRE11 MRE11A NBA1 NBN NBS NBS1 NFBD1 NHEJ1 NSD2 P95 PAXIP1 PAXIP1L PIAS4 PIASG POLL POLM PRKDC PTIP RAD50 RAP80 RIF1 RNF168 RNF53 RNF8 RXRIP110 SCIDA SNM1C TDP1 TDP2 TIP60 TP53BP1 TRX5 TSH2B TTRAP UBE2N UBE2V2 UEV2 UIMC1 WHSC1 XLF XRCC4 XRCC5 XRCC6 polmu
Defective GALNT12 causes CRCS1	Mucin-12 Mucin-13 Mucin-15 Mucin-16 Mucin-17 Mucin-19 Mucin-1 Mucin-20 Mucin-21 Mucin-2 Mucin-3A Mucin-3B Mucin-4 Mucin-5AC Mucin-5B Mucin-6 Mucin-7 Mucin-like protein 1 Polypeptide N-acetylgalactosaminyltransferase 12	P15941 P98088 Q02505 Q02817 Q5SSG8 Q685J3 Q6W4X9 Q7Z5P9 Q8IXK2 Q8N307 Q8N387 Q8TAX7 Q8WXI7 Q96DR8 Q99102 Q9H195 Q9H3R2 Q9HC84 Q9UKN1	C6orf205 CA125 DRCC1 GALNT12 KIAA1359 MG2 MUC1 MUC11 MUC12 MUC13 MUC15 MUC16 MUC17 MUC19 MUC2 MUC20 MUC21 MUC3 MUC3A MUC3B MUC4 MUC5 MUC5AC MUC5B MUC6 MUC7 MUCL1 PUM RECC SBEM SMUC
RUNX2 regulates chondrocyte maturation	Core-binding factor subunit beta Histone deacetylase 4 Indian hedgehog protein Zinc finger protein GLI2	P10070 P56524 Q13951 Q14623	CBFB GLI2 HDAC4 IHH KIAA0288 THP
Defective POMT2 causes MDDGA2, MDDGB2 and MDDGC2	Dystroglycan 1 Protein O-mannosyl-transferase 1 Protein O-mannosyl-transferase 2	Q14118 Q9UKY4 Q9Y6A1	DAG1 POMT1 POMT2
Processing of SMDT1	ATP-dependent zinc metalloprotease YME1L1 Calcium uniporter protein, mitochondrial Calcium uniporter regulatory subunit MCUb, mitochondrial Calcium uptake protein 1, mitochondrial Calcium uptake protein 2, mitochondrial Calcium uptake protein 3, mitochondrial Essential MCU regulator, mitochondrial Mitochondrial inner membrane m-AAA protease component AFG3L2 Mitochondrial inner membrane m-AAA protease component paraplegin Mitochondrial-processing peptidase subunit alpha Mitochondrial-processing peptidase subunit beta Presenilin-associated rhomboid-like protein, mitochondrial Prohibitin 1 Prohibitin-2 Stomatin-like protein 2, mitochondrial m-AAA protease-interacting protein 1, mitochondrial	O75439 P35232 Q10713 Q86XE3 Q8IYU8 Q8NE86 Q8WWC4 Q96TA2 Q99623 Q9BPX6 Q9H300 Q9H4I9 Q9NWR8 Q9UJZ1 Q9UQ90 Q9Y4W6	AFG3L2 BAP C10orf42 C22orf32 C2orf47 CALC CAR CBARA1 CCDC109A CCDC109B CMAR EFHA1 EFHA2 EMRE FTSH1 INPP5E KIAA0123 MAIP1 MCU MCUB MICU1 MICU2 MICU3 MPPA MPPB PARL PGN PHB PHB1 PHB2 PMPCA PMPCB PSARL REA SLP2 SMDT1 SPG7 STOML2 YME1L YME1L1
Regulation of gene expression by Hypoxia-inducible Factor	Aryl hydrocarbon receptor nuclear translocator CREB-binding protein Carbonic anhydrase 9 Cbp/p300-interacting transactivator 2 Endothelial PAS domain-containing protein 1 Erythropoietin HIG1 domain family member 1A, mitochondrial Histone acetyltransferase p300 Hypoxia-inducible factor 1-alpha Vascular endothelial growth factor A, long form	P01588 P15692 P27540 Q09472 Q16665 Q16790 Q92793 Q99814 Q99967 Q9Y241	ARNT BHLHE2 BHLHE73 BHLHE78 CA9 CBP CITED2 CREBBP EP300 EPAS1 EPO G250 HIF1A HIF2A HIG1 HIGD1A MN MOP1 MOP2 MRG1 P300 PASD2 PASD8 VEGF VEGFA
Defective cofactor function of FVIIIa variant	Coagulation factor IX Coagulation factor VIII Coagulation factor X	P00451 P00740 P00742	F10 F8 F8C F9
Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA1 binding function	26S proteasome complex subunit SEM1 BRCA1-associated RING domain protein 1 Bifunctional 3'-5' exonuclease/ATP-dependent helicase WRN Breast cancer type 1 susceptibility protein Breast cancer type 2 susceptibility protein DNA endonuclease RBBP8 DNA repair protein RAD50 DNA repair protein RAD51 homolog 1 DNA repair protein RAD51 homolog 2 DNA repair protein RAD51 homolog 3 DNA repair protein RAD51 homolog 4 DNA repair protein XRCC2 DNA replication ATP-dependent helicase/nuclease DNA2 DNA topoisomerase 3-alpha Double-strand break repair protein MRE11 Exonuclease 1 Fanconi anemia group J protein Histone acetyltransferase KAT5 Nibrin Partner and localizer of BRCA2 RAD51-associated protein 1 RecQ-like DNA helicase BLM RecQ-mediated genome instability protein 1 RecQ-mediated genome instability protein 2 Serine-protein kinase ATM	O15315 O43502 O43543 O60934 O75771 P38398 P49959 P51530 P51587 P54132 P60896 Q06609 Q13315 Q13472 Q14191 Q86YC2 Q92878 Q92993 Q96B01 Q96E14 Q99708 Q99728 Q9BX63 Q9H9A7 Q9UQ84	ATM BACH1 BARD1 BLM BRCA1 BRCA2 BRIP1 C16orf75 C7orf76 C9orf76 CTIP DNA2 DNA2L DSS1 EXO1 EXOI FACD FANCD1 FANCJ FANCN HEX1 HNGS1 HTATIP KAT5 KIAA0083 MRE11 MRE11A NBN NBS NBS1 P95 PALB2 PIR51 RAD50 RAD51 RAD51A RAD51AP1 RAD51B RAD51C RAD51D RAD51L1 RAD51L2 RAD51L3 RBBP8 REC2 RECA RECQ2 RECQ3 RECQL2 RECQL3 RMI1 RMI2 RNF53 SEM1 SHFDG1 SHFM1 TIP60 TOP3 TOP3A WRN XRCC2
Regulation of KIT signaling	E3 ubiquitin-protein ligase CBL Mast/stem cell growth factor receptor Kit Protein kinase C alpha type SH2B adapter protein 2 SH2B adapter protein 3 Son of sevenless homolog 1 Suppressor of cytokine signaling 1 Suppressor of cytokine signaling 6 Tyrosine-protein kinase Fyn Tyrosine-protein kinase Lck Tyrosine-protein kinase Lyn Tyrosine-protein kinase Yes Tyrosine-protein phosphatase non-receptor type 6	O14492 O14544 O15524 P06239 P06241 P07947 P07948 P10721 P17252 P22681 P29350 Q07889 Q9UQQ2	APS CBL CBL2 CIS4 FYN HCP JTK8 KIT LCK LNK LYN PKCA PRKACA PRKCA PTP1C PTPN6 RNF55 SCFR SH2B2 SH2B3 SOCS1 SOCS4 SOCS6 SOS1 SSI1 TIP3 YES YES1

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