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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 **826 - 850** of **4621** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism
DOID:5679	retinal disease	ACE AGXT AKR1B1 ALDH2 ALDH3A2 ALOX12 B3GAT1 CALR CAT CD44 CD74 CEL CEPT1 CHAT CHI3L1 CHPT1 CTNS CYP1B1 CYP2C19 CYP2C9 DCN DDOST ENPP1 GAD2 GCK GLO1 GLUL GM2A GNPTAB GUSB HADHA HEXB HPSE ICAM1 IDUA ISYNA1 KL LGALS1 NEU1 NYX PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PISD PLA2G6 PLA2G7 PLCB4 PLD2 PNPLA2 POMGNT1 PTGS2 RPE SELE SIRT4 SPHK2 ST3GAL4 STS SULT1E1 TM7SF2 VCAM1	10390 1056 10855 1103 1116 142 1497 1545 1557 1559 1634 1636 1650 189 217 224 231 23409 23761 239 2572 2645 27087 2739 2752 2760 2990 3030 3074 3383 3425 3956 412 4758 51477 5167 5290 5291 5293 5294 5332 5338 55624 56848 56994 57104 5743 60506 6120 6401 6484 6783 7108 7412 79158 7941 811 8398 847 9365 960 972	Homo sapiens (human)
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)
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)
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)
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)
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)
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)
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)
DOID:0050508	variola major	ABO CDS1 CYB5R3 FCN2 IL18R1	1040 1727 2220 28 8809	Homo sapiens (human)
DOID:8729	milker's nodule Aliases: Milkers' node Paravaccinia milker nodule	ABO CDS1 CYB5R3 FCN2 IL18R1	1040 1727 2220 28 8809	Homo sapiens (human)
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)
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)
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)
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)
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)
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)
DOID:9263	homocystinuria Aliases: CBS deficiency cystathionine beta synthase deficiency cystathionine synthase deficiency	ALDH7A1 CAT CYP7A1 MMUT PEMT SCD	10400 1581 4594 501 6319 847	Homo sapiens (human)
DOID:8456	choline deficiency disease Aliases: choline deficiency	MLYCD PEMT	10400 23417	Homo sapiens (human)
DOID:3765	pseudohermaphroditism Aliases: Indeterminate sex and pseudohermaphroditism	AKR1C1 AKR1C2 AKR1C3 AKR1C4 CDIPT CYP11A1 CYP11B1 CYP17A1 CYP19A1 CYP21A2 CYP2B6 DHCR24 DHRS11 GAS1 HSD17B3 HSD17B7 HSD3B1 HSD3B2 MECR PGD PKD2 PRSS21 SRD5A2	10423 10942 1109 1555 1583 1584 1586 1588 1589 1645 1646 1718 2619 3283 3284 3293 51102 51478 5226 5311 6716 79154 8644	Homo sapiens (human)
DOID:1923	disorder of sexual development Aliases: sex development disorder sex differentiation disease	AKR1C1 AKR1C2 AKR1C3 AKR1C4 CDIPT CYP11A1 CYP11B1 CYP17A1 CYP19A1 CYP21A2 CYP2B6 DHCR24 DHRS11 GAS1 HSD17B3 HSD17B7 HSD3B1 HSD3B2 MECR PGD PKD2 PRSS21 SRD5A2	10423 10942 1109 1555 1583 1584 1586 1588 1589 1645 1646 1718 2619 3283 3284 3293 51102 51478 5226 5311 6716 79154 8644	Homo sapiens (human)
DOID:3763	hermaphroditism	AKR1C1 AKR1C2 AKR1C3 AKR1C4 CDIPT CYP11A1 CYP11B1 CYP17A1 CYP19A1 CYP21A2 CYP2B6 DHCR24 DHRS11 GAS1 HSD17B3 HSD17B7 HSD3B1 HSD3B2 MECR PGD PKD2 PRSS21 SRD5A2	10423 10942 1109 1555 1583 1584 1586 1588 1589 1645 1646 1718 2619 3283 3284 3293 51102 51478 5226 5311 6716 79154 8644	Homo sapiens (human)
DOID:718	autoimmune hemolytic anemia Aliases: Autoimmune haemolytic anaemia autoimmune hemolytic anaemia	ABO ANXA5 B3GAT1 CD48 CD55 FCGR3B HMMR LYPLA1 MBL2 OCRL PNP	10434 1604 2215 27087 28 308 3161 4153 4860 4952 962	Homo sapiens (human)
DOID:14723	beta-ketothiolase deficiency Aliases: 2-methyl-3-hydroxybutyricacidemia 3-ketothiolase deficiency 3-oxothiolase deficiency Mitochondrial acetoacetyl-CoA Thiolase deficiency alpha-methylacetoaceticaciduria peroxisomal thiolase deficiency	ACAA1 ACAA2 ACAT1 ACAT2 HADHB HSD17B4 OXCT1	10449 30 3032 3295 38 39 5019	Homo sapiens (human)
DOID:1340	pure red-cell aplasia Aliases: Red cell hypoplasia primary red cell aplasia pure red cell aplasia	ABO CD38 CD44 CD55 CYP1A1 CYP2E1 DGKZ ECI2 GPI HPGDS PGK1 SULF2 VCAM1	10455 1543 1571 1604 27306 28 2821 5230 55959 7412 8525 952 960	Homo sapiens (human)
DOID:0060284	paroxysmal nocturnal hemoglobinuria	BST1 CD14 CD1D CD38 CD48 CD55 CRLS1 ECI2 FCGR3B FUT1 FUT4 G6PD GPI HACD1 HPRT1 IDH1 KLRK1 PGAP1 PIGA PIGF PIGM PIGT PLAUR PRNP SELL	10455 1604 2215 22914 2523 2526 2539 2821 3251 3417 51604 5277 5281 5329 54675 5621 6402 683 80055 912 9200 929 93183 952 962	Homo sapiens (human)

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