GlyCosmos Portal

Homo sapiens (human)

Summary

Taxonomy ID: 9606
PubChem Taxonomy: 9606

Genes (1582) Glycans (5831) Glycoproteins (18496) Lectins (298) Pathways (2090)

Displaying entries **1551 - 1575** of **2090** in total

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Pathway Name ▼	Protein Name	UniProt ID	Gene Symbol
Defective regulation of TLR7 by endogenous ligand	Toll-like receptor 7	Q9NYK1	TLR7
Defective pyroptosis	DNA (cytosine-5)-methyltransferase 1 DNA (cytosine-5)-methyltransferase 3A DNA (cytosine-5)-methyltransferase 3B DNA polymerase alpha catalytic subunit DNA polymerase alpha subunit B DNA primase large subunit DNA primase small subunit Gasdermin-E Histone H2A type 1-B/E Histone H2A type 1-C Histone H2A type 1-D Histone H2A type 1-J Histone H2A type 2-A Histone H2A type 2-C Histone H2A-Bbd type 1 Histone H2A.J Histone H2A.V 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 H3.1 Histone H3.2 Histone H3.3 Histone H4 Histone-binding protein RBBP4 Histone-binding protein RBBP7 Histone-lysine N-methyltransferase EZH2 Polycomb protein EED Polycomb protein SUZ12	O60443 O60814 O75530 P04908 P06899 P09884 P0C5Y9 P16104 P20671 P23527 P26358 P33778 P49642 P49643 P57053 P58876 P62805 P62807 P68431 P84243 Q09028 Q14181 Q15022 Q15910 Q16576 Q16777 Q16778 Q6FI13 Q71DI3 Q71UI9 Q8N257 Q93077 Q93079 Q96A08 Q99877 Q99878 Q99879 Q99880 Q9BTM1 Q9UBC3 Q9Y6K1	AIM CHET9 CXXC9 DFNA5 DNMT DNMT1 DNMT3A DNMT3B EED EZH2 GSDME H2AB1 H2AC14 H2AC18 H2AC19 H2AC20 H2AC4 H2AC6 H2AC7 H2AC8 H2AFA H2AFB1 H2AFE H2AFG H2AFJ H2AFL H2AFM H2AFO H2AFQ H2AFV H2AFX H2AJ H2AV H2AX H2AZ2 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 H3-3A H3-3B H3.3A H3.3B H3C1 H3C10 H3C11 H3C12 H3C13 H3C14 H3C15 H3C2 H3C3 H3C4 H3C6 H3C7 H3C8 H3F2 H3F3 H3F3A H3F3B H3FA H3FB H3FC HIST1H3C H3FD H3FF H3FH H3FI H3FJ H3FK H3FL H3FM 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 HIRIP1 HIRIP2 HIST1H2AB HIST1H2AC HIST1H2AD HIST1H2AE HIST1H2AJ HIST1H2BA HIST1H2BB HIST1H2BC HIST1H2BD HIST1H2BE HIST1H2BF HIST1H2BG HIST1H2BH HIST1H2BI HIST1H2BJ HIST1H2BK HIST1H2BL HIST1H2BM HIST1H2BN HIST1H2BO HIST1H3A HIST1H3B HIST1H3D HIST1H3E HIST1H3F HIST1H3G HIST1H3H HIST1H3I HIST1H3J HIST1H4A HIST1H4B HIST1H4C HIST1H4D HIST1H4E HIST1H4F HIST1H4H HIST1H4I HIST1H4J HIST1H4K HIST1H4L HIST2H2AA HIST2H2AA3 HIST2H2AA4 HIST2H2AC HIST2H2BE HIST2H3A HIST2H3C HIST2H3D HIST2H4 HIST2H4A HIST2H4B HIST3H2BB HIST4H4 ICERE1 JJAZ1 KIAA0160 KMT6 POLA POLA1 POLA2 PRIM1 PRIM2 PRIM2A RBAP46 RBAP48 RBBP4 RBBP7 SUZ12 TSH2B
Defective pro-SFTPB causes SMDP1 and RDS	Pulmonary surfactant-associated protein B	P07988	SFTP3 SFTPB
Defective homologous recombination repair (HRR) due to BRCA1 loss of 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
Defective gamma-carboxylation of F9	Coagulation factor IX Vitamin K-dependent gamma-carboxylase	P00740 P38435	F9 GC GGCX
Defective factor XII causes hereditary angioedema	Coagulation factor XII Plasma kallikrein Prothrombin	P00734 P00748 P03952	F12 F2 KLK3 KLKB1
Defective factor IX causes thrombophilia	Coagulation factor IX Coagulation factor VIII Coagulation factor X	P00451 P00740 P00742	F10 F8 F8C F9
Defective cofactor function of FVIIIa variant	Coagulation factor IX Coagulation factor VIII Coagulation factor X	P00451 P00740 P00742	F10 F8 F8C F9
Defective binding of VWF variant to GPIb:IX:V	Platelet glycoprotein IX Platelet glycoprotein Ib alpha chain Platelet glycoprotein Ib beta chain Platelet glycoprotein V von Willebrand factor	P04275 P07359 P13224 P14770 P40197	F8VWF GP1BA GP1BB GP5 GP9 VWF
Defective binding of RB1 mutants to E2F1,(E2F2, E2F3)	Cyclin-dependent kinase 2 Cyclin-dependent kinase 4 Cyclin-dependent kinase 6 Cyclin-dependent kinase inhibitor 1 Cyclin-dependent kinase inhibitor 1B Cyclin-dependent kinase inhibitor 1C G1/S-specific cyclin-D1 G1/S-specific cyclin-D2 G1/S-specific cyclin-D3 G1/S-specific cyclin-E1 G1/S-specific cyclin-E2 Retinoblastoma-associated protein Transcription factor Dp-1 Transcription factor Dp-2 Transcription factor E2F1 Transcription factor E2F2 Transcription factor E2F3	O00716 O96020 P06400 P11802 P24385 P24864 P24941 P30279 P30281 P38936 P46527 P49918 Q00534 Q01094 Q14186 Q14188 Q14209	BCL1 CAP20 CCND1 CCND2 CCND3 CCNE CCNE1 CCNE2 CDK2 CDK4 CDK6 CDKN1 CDKN1A CDKN1B CDKN1C CDKN2 CDKN6 CIP1 DP1 DP2 E2F1 E2F2 E2F3 KIAA0075 KIP1 KIP2 MDA6 PIC1 PRAD1 RB1 RBBP3 SDI1 TFDP1 TFDP2 WAF1 p27
Defective VWF cleavage by ADAMTS13 variant	A disintegrin and metalloproteinase with thrombospondin motifs 13 von Willebrand factor	P04275 Q76LX8	ADAMTS13 C9orf8 F8VWF VWF
Defective VWF binding to collagen type I	von Willebrand factor	P04275	F8VWF VWF
Defective UGT1A4 causes hyperbilirubinemia	UDP-glucuronosyltransferase 1A4	P22310	GNT1 UGT1 UGT1A4
Defective UGT1A1 causes hyperbilirubinemia	UDP-glucuronosyltransferase 1A1	P22309	GNT1 UGT1 UGT1A1
Defective TPR may confer susceptibility towards thyroid papillary carcinoma (TPC)	Aladin E3 SUMO-protein ligase RanBP2 Glucokinase regulatory protein Hexokinase-4 Nuclear envelope pore membrane protein POM 121 Nuclear envelope pore membrane protein POM 121C Nuclear pore complex protein Nup107 Nuclear pore complex protein Nup133 Nuclear pore complex protein Nup153 Nuclear pore complex protein Nup155 Nuclear pore complex protein Nup160 Nuclear pore complex protein Nup205 Nuclear pore complex protein Nup214 Nuclear pore complex protein Nup50 Nuclear pore complex protein Nup85 Nuclear pore complex protein Nup88 Nuclear pore complex protein Nup93 Nuclear pore glycoprotein p62 Nuclear pore membrane glycoprotein 210 Nucleoporin NDC1 Nucleoporin NUP188 Nucleoporin NUP35 Nucleoporin NUP42 Nucleoporin Nup37 Nucleoporin Nup43 Nucleoporin p54 Nucleoprotein TPR Protein SEC13 homolog mRNA export factor RAE1	A8CG34 O15504 O75694 P12270 P35557 P35658 P37198 P49790 P49792 P55735 P57740 P78406 Q12769 Q14397 Q5SRE5 Q7Z3B4 Q8N1F7 Q8NFH3 Q8NFH4 Q8NFH5 Q8TEM1 Q8WUM0 Q92621 Q96HA1 Q99567 Q9BTX1 Q9BW27 Q9NRG9 Q9UKX7	AAAS ADRACALA C7orf14 CAIN CAN CG1 D3S1231E GCK GCKR KIAA0023 KIAA0095 KIAA0169 KIAA0197 KIAA0225 KIAA0618 KIAA0791 KIAA0906 MP44 MRNP41 NDC1 NPAP60L NUP107 NUP120 NUP121 NUP133 NUP153 NUP155 NUP160 NUP188 NUP205 NUP210 NUP214 NUP35 NUP358 NUP37 NUP42 NUP43 NUP50 NUP53 NUP54 NUP62 NUP75 NUP85 NUP88 NUP93 NUPL2 PCNT1 POM121 POM121A POM121C RAE1 RANBP2 SEC13 SEC13A SEC13L1 SEC13R TMEM48 TPR
Defective TPMT causes TPMT deficiency	Thiopurine S-methyltransferase	P51580	TPMT
Defective TBXAS1 causes GHDD	Thromboxane-A synthase	P24557	CYP5 CYP5A1 TBXAS1 TXAS
Defective ST3GAL3 causes MCT12 and EIEE15	Aggrecan core protein CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase Fibromodulin Keratocan Lumican Mimecan Osteomodulin Prolargin	O60938 P16112 P20774 P51884 P51888 Q06828 Q11203 Q99983	ACAN AGC1 CSPG1 FM FMOD KERA LDC LUM MSK16 OGN OIF OMD PRELP SIAT6 SLRR2A SLRR2B SLRR2C SLRR2D SLRR2E SLRR3A ST3GAL3
Defective SLCO2A1 causes primary, autosomal recessive hypertrophic osteoarthropathy 2 (PHOAR2)	Solute carrier organic anion transporter family member 2A1	Q92959	OATP2A1 SLC21A2 SLCO2A1
Defective SLCO1B3 causes hyperbilirubinemia, Rotor type (HBLRR)	Solute carrier organic anion transporter family member 1B3	Q9NPD5	LST2 OATP1B3 OATP8 SLC21A8 SLCO1B3
Defective SLCO1B1 causes hyperbilirubinemia, Rotor type (HBLRR)	Solute carrier organic anion transporter family member 1B1	Q9Y6L6	LST1 OATP1B1 OATP2 OATPC SLC21A6 SLCO1B1
Defective SLC9A9 causes autism 16 (AUTS16)	Sodium/hydrogen exchanger 9	Q8IVB4	NHE9 SLC9A9
Defective SLC9A6 causes X-linked, syndromic mental retardation,, Christianson type (MRXSCH)	Sodium/hydrogen exchanger 6	Q92581	KIAA0267 NHE6 SLC9A6
Defective SLC7A9 causes cystinuria (CSNU)	Amino acid transporter heavy chain SLC3A1 b(0,+)-type amino acid transporter 1	P82251 Q07837	BAT1 NBAT SLC3A1 SLC7A9
Defective SLC7A7 causes lysinuric protein intolerance (LPI)	Amino acid transporter heavy chain SLC3A2 Y+L amino acid transporter 1	P08195 Q9UM01	MDU1 SLC3A2 SLC7A7

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