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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB), DisGeNET, and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	July 29, 2024
DisGeNET	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **1051 - 1075** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:2018	hyperinsulinism Aliases: hyperinsulinemia	Adipoq Gck Ins1 Ins2 Kcnj11 Lep Lepr Pfkfb1 Rbp4	103988 11450 16333 16334 16514 16846 16847 18639 19662	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:10763	hypertension Aliases: HTN hyperpiesia vascular hypertensive disorder	Abo Adrb1 Akt1 Akt2 Atp1a2 Bad Chi3l1 Chst12 Comt Eno1 Eno1b Eno2 Gck Gsk3b Hk2 Htr2a Il6st Inppl1 Ins2 Kcnj11 Kcnq1 Kl Ldha Lep Lepr Nisch Npy1r Ogg1 Pgf Pik3r1 Pkm Ppara Rbp4 Tnf Ucp2 Ugcg	103988 11554 11651 11652 12015 12654 12846 13806 13807 15277 15558 16195 16332 16334 16514 16535 16591 16828 16846 16847 18166 18294 18654 18708 18746 19013 19662 21926 22228 22234 433182 56637 59031 64652 80908 98660	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:4195	hyperglycemia	Adrb1 Akr1b1 Gck Htr2a Ldha Lepr Pdx1 Pla2g4a Ppargc1a	103988 11554 11677 15558 16828 16847 18609 18783 19017	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9993	hypoglycemia Aliases: Hypoglycaemia	Akt2 Gck Ppp1r3a	103988 11652 140491	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:4194	glucose metabolism disease Aliases: disorder of glucose metabolism	Gck Hk1 Hk2 Hk3 Hkdc1 Tlr1 Tlr2 Tlr4 Tlr6	103988 15275 15277 212032 216019 21897 21898 21899 24088	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060639	permanent neonatal diabetes mellitus Aliases: PDMI PNDM permanent diabetes mellitus of infancy	Gck Ins1 Ins2 Kcnj11	103988 16333 16334 16514	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050524	maturity-onset diabetes of the young Aliases: MODY Mason-type diabetes	Gck Ins2 Pdx1	103988 16334 18609	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070216	familial hyperinsulinemic hypoglycemia 3 Aliases: HHF3 hyperinsulinemic hypoglycemia due to glucokinase deficiency hyperinsulinism due to glucokinase deficiency	Gck	103988	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111100	maturity-onset diabetes of the young type 2 Aliases: MODY glucokinase-related MODY type 2 MODY2	Gck	103988	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:13317	hyperinsulinemic hypoglycemia Aliases: Islet cell hyperplasia nesidioblastosis persistent hyperinsulinemia hypoglycemia of infancy	Gck	103988	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:437	myasthenia gravis	ACHE APRT B3GAT1 CD55 CDIPT CDS1 CLC CNTFR CYP21A2 CYP3A5 IL18R1 LGALS1 LGALS8 NCAM1	1040 10423 1178 1271 1577 1589 1604 27087 353 3956 3964 43 4684 8809	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:594	panic disorder Aliases: panic anxiety syndrome	ACE AKR1C1 AKR1C3 ARSI CDS1 COMT CYP2B6 CYP2C19 DGKH DLST FH GAD1 GAD2 GANC GFRA4 GLO1 GPX1 IL1R1 LDHA LDHB MANEA MBL2 MDH2 NAGLU NPL OGA OGG1 PLA2G4E PSAP SDHA SDHB SDHC SIGLEC7 SLC3A1 SRD5A1	1040 10724 123745 1312 1555 1557 160851 1636 1645 1743 2271 2571 2572 2595 27036 2739 2876 340075 3554 3939 3945 4153 4191 4669 4968 5660 6389 6390 6391 64096 6519 6715 79694 80896 8644	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:9471	meningitis	APRT CAT CD248 CDS1 CHI3L1 ENOSF1 GALNS ICAM1 IGF2 LYZ MBL2 NEU1 OGG1 PARP1 PLAUR PRNP	1040 1116 142 2588 3383 3481 353 4069 4153 4758 4968 5329 55556 5621 57124 847	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:12156	arachnoiditis	APRT CAT CD248 CDS1 CHI3L1 ENOSF1 GALNS ICAM1 LYZ MBL2 NEU1 OGG1 PARP1 PRNP	1040 1116 142 2588 3383 353 4069 4153 4758 4968 55556 5621 57124 847	Homo sapiens (human)	DisGeNET
DOID:13001	carotid stenosis Aliases: Carotid artery stenosis Stenosis, carotid artery	ACE ARSA ART4 CD14 CD74 CDS1 CHIT1 CYP2C19 FCGR3B KL LIPC LPL PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PLA2G7 PTGIS PTGS2 SACM1L SMUG1 ST8SIA4 TLR2 TLR4 TM7SF2 VCAM1	1040 1118 1557 1636 2215 22908 23583 3990 4023 410 420 5130 5290 5291 5293 5294 5740 5743 7097 7099 7108 7412 7903 7941 929 9365 972	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:5614	eye disease	ARSI B3GLCT CA4 CACNA2D4 CDS1 CDS2 CLN5 COL9A2 CYP1B1 CYP27A1 CYP2C19 CYP2C9 DGKG ELOVL4 ENO1 ENO2 FREM1 ICAM1 IDH3B LDHA NYX PARP1 PIK3CD PLA2G5 PNPLA2 PPT1 RPE SCD SRD5A3 SULT1E1 TLR2 TLR4 TNF VCAN	1040 1203 1298 142 145173 1462 1545 1557 1559 158326 1593 1608 2023 2026 3383 340075 3420 3939 5293 5322 5538 57104 60506 6120 6319 6783 6785 7097 7099 7124 762 79644 8760 93589	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0050495	exanthema subitum Aliases: Roseola Infantum Sixth Disease	ABO CANX CDS1 CYB5R3 FCN2 HPGDS IL18R1 MRC1	1040 1727 2220 27306 28 4360 821 8809	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:0050508	variola major	ABO CDS1 CYB5R3 FCN2 IL18R1	1040 1727 2220 28 8809	Homo sapiens (human)	DisGeNET DisGeNET
DOID:8729	milker's nodule Aliases: Milkers' node Paravaccinia milker nodule	ABO CDS1 CYB5R3 FCN2 IL18R1	1040 1727 2220 28 8809	Homo sapiens (human)	DisGeNET DisGeNET
DOID:8337	appendicitis Aliases: acute appendicitis acute appendicitis with generalized peritonitis acute appendicitis with peritoneal abscess	ACSS2 CD14 CDS1 NAGLU PCYT1A PLA2G15 SMUG1	1040 23583 23659 4669 5130 55902 929	Homo sapiens (human)	DisGeNET
DOID:1270	hereditary hemorrhagic telangiectasia Aliases: Osler hemorrhagic telangiectasia syndrome Osler-Weber-Rendu disease Rendu-Osler-Weber disease	ACE CEACAM5 DGKE DPM1 PEMT PGAP2 PGAP3 PIGL PIGO PIGV PIGW PIGY PIK3CA PIK3CB PIK3CD PIK3CG PTEN SELE TALDO1 TNF	10400 1048 1636 27315 284098 5290 5291 5293 5294 55650 5728 6401 6888 7124 84720 84992 8526 8813 93210 9487	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:1272	telangiectasis Aliases: telangiectasia	ACE CEACAM5 DGKE DPM1 PEMT PGAP2 PGAP3 PIGL PIGO PIGV PIGW PIGY PIK3CA PIK3CB PIK3CD PIK3CG PTEN SELE TALDO1	10400 1048 1636 27315 284098 5290 5291 5293 5294 55650 5728 6401 6888 84720 84992 8526 8813 93210 9487	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:1271	capillary disease Aliases: disease of capillaries	ACE CEACAM5 DGKE DPM1 PEMT PGAP2 PGAP3 PIGL PIGO PIGV PIGW PIGY PIK3CA PIK3CB PIK3CD PIK3CG PTEN SELE TALDO1	10400 1048 1636 27315 284098 5290 5291 5293 5294 55650 5728 6401 6888 84720 84992 8526 8813 93210 9487	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:14250	Down syndrome Aliases: Complete trisomy 21 syndrome Down's syndrome Down's syndrome - trisomy 21 Downs syndrome G Trisomy trisomy 21 syndrome	ACO1 AGA ARSA ARSD B3GAT1 BST2 CAT CBR1 CD14 CD38 CHAT COMT CPT1B CYP17A1 CYP19A1 CYP2B6 ENO2 ENOSF1 FCGR3B GAD1 GAPDH GMPPA GPI GPX1 GPX3 HAS2 HPGDS HPSE2 ICAM1 IL1RL1 INPP5D LTA4H MRC1 NCAM1 NT5E PARP1 PARP4 PCYT1A PEMT PFKL PGD PIGP PIK3CD PIP4K2A PLA2G2D POFUT2 PRNP PRSS21 PTGS2 RENBP SHMT1 SHMT2 SOAT1 STS SUCLA2 SULT1E1 SYNJ1 SYNJ2 TNFRSF10C	10400 10942 1103 1312 1375 142 143 1555 1586 1588 175 2026 2215 23275 2571 2597 26279 27087 27306 2821 2876 2878 29926 3037 3383 3635 4048 410 412 414 4360 4684 48 4907 51227 5130 5211 5226 5293 5305 55556 5621 5743 5973 60495 6470 6472 6646 6783 684 847 873 8794 8803 8867 8871 9173 929 952	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:0050729	Chanarin-Dorfman syndrome Aliases: neutral lipid storage disease	AGK CPT2 DGAT1 LPIN2 PEMT PNPLA2 PNPLA3	10400 1376 55750 57104 80339 8694 9663	Homo sapiens (human)	DisGeNET Alliance of Genome Resources

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