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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 **1801 - 1825** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:4676	uremia Aliases: UREMIA OF renal ORIGIN	ACE ACSS2 AGL AGXT AKR1B1 ALPL ALPP APRT ATP6AP2 ATRNL1 CAT COMT CTSA CYP11B2 CYP24A1 CYP3A4 DCN DEGS1 DGKE ENPP1 FCGR3B G6PC1 GCNT2 GGT1 GLA HAGH HSPG2 ICAM1 IDH2 KL KLB LCAT LYZ MASP1 MBL2 NAMPT OCRL PARP1 PIK3C3 PKD1 PKD2 PLA2G15 PLA2G7 PTGS1 PTGS2 RENBP RGN SDC1 SDC2 SELL SLC17A5 SLC35G1 SMUG1 TM7SF2 UMOD VCAM1	10135 10159 1312 142 152831 1576 1585 1591 159371 1634 1636 178 189 2215 231 23583 23659 249 250 2538 26033 26503 2651 2678 2717 3029 3339 3383 3418 353 3931 4069 4153 4952 5167 5289 5310 5311 5476 55902 5648 5742 5743 5973 6382 6383 6402 7108 7369 7412 7941 847 8526 8560 9104 9365	Homo sapiens (human)
DOID:0110110	atrial heart septal defect 5 Aliases: ASD5 atrial septal defect 5	ACADVL ALG12 ARSA ARSD ATP6V1A B3GALT6 B3GAT3 B3GLCT CAT CFC1 CHST14 CHST3 COMT CYP11A1 CYP11B2 CYP1B1 CYP2E1 DSE FIG4 FKTN G6PC3 GAA GPC3 GPC6 MASP1 MMUT PCYT1A PIGA PIGN PIGQ PLD1 PTEN RENBP SMC3 TALDO1 TGDS TKT XYLT2	10082 113189 126792 1312 145173 1545 1571 1583 1585 2218 23483 23556 2548 26229 2719 29940 37 410 414 4594 5130 523 5277 5337 55997 5648 5728 5973 64132 6888 7086 79087 847 9091 9126 92579 9469 9896	Homo sapiens (human)
DOID:0111452	progressive myoclonus epilepsy 1A Aliases: EPM1A	ARSA ASAH1 EPM2A NEU1 PFKL PRNP TMED9	410 427 4758 5211 54732 5621 7957	Homo sapiens (human)
DOID:0110406	retinitis pigmentosa 30 Aliases: RP30	ELOVL4 GPX3 RPE	2878 6120 6785	Homo sapiens (human)
DOID:3305	teratocarcinoma Aliases: mixed Embryonal carcinoma and teratoma	A4GALT ACHE CAT CLEC10A FUT1 FUT4 PARP1 PLA2G2A PTGS2 RTN4R SPTLC2	10462 142 2523 2526 43 5320 53947 5743 65078 847 9517	Homo sapiens (human)
DOID:14115	toxic shock syndrome Aliases: TSS toxic shock	ACE ENO2 FCGR3B FUT2 HSPG2 MBL2 SELL SLC5A1 TNF	1636 2026 2215 2524 3339 4153 6402 6523 7124	Homo sapiens (human)
DOID:13810	familial hypercholesterolemia Aliases: Fredrickson type IIa hyperlipoproteinemia Fredrickson type IIa lipidaemia familial hyperbetalipoproteinaemia familial hypercholesteremia hyperbetalipoproteinemia type II hyperlipidemia	ABO ACE ACSS2 ADH1A ADPRH ALOX5 ANXA5 BAAT CH25H COG2 COL9A2 CYP7A1 EPHX2 EXT1 EXT2 GK GLB1 HSPG2 ICAM1 LCAT LIPA LIPC LIPG LPL OLR1 PLA2G15 PLA2G7 PRKCSH RBP4 SDC2 SELE SIGLEC7 TNFRSF10C	124 1298 141 1581 1636 2053 2131 2132 22796 23659 240 27036 2710 2720 28 308 3339 3383 3931 3988 3990 4023 4973 5589 55902 570 5950 6383 6401 7941 8794 9023 9388	Homo sapiens (human)
DOID:2436	glomangioma Aliases: Glomuvenous Malformation	SDHB SDHD	6390 6392	Homo sapiens (human)
DOID:0050161	lower respiratory tract disease	ACHE	43	Homo sapiens (human)
DOID:4188	echolalia	ATP6AP2 HGSNAT SLC35C1	10159 138050 55343	Homo sapiens (human)
DOID:0080029	autosomal recessive spinocerebellar ataxia 16 Aliases: SCAR16	CNTN4 SUMF1	152330 285362	Homo sapiens (human)
DOID:6171	uterine carcinosarcoma Aliases: mixed mullerian sarcoma of uterus	L1CAM PIK3CA PTEN SMUG1	23583 3897 5290 5728	Homo sapiens (human)
DOID:5530	thymus squamous cell carcinoma Aliases: Epidermoid Thymic carcinoma	LY75	4065	Homo sapiens (human)
DOID:216	dental caries Aliases: Dental caries extending into pulp Dental caries of smooth surface Dental caries pit and fissure	ACE AGA ALOX15 ALPL ATP6V0A2 ATP6V1A CALR CD14 COG6 COMT DAG1 FCN2 GALK2 GALNS GLB1 GLUL IDUA ITPKB LYZL2 MBL2 MTM1 MTMR3 NDUFAB1 OCRL PIGA PLA2G6 PSAP PTEN SGMS2 SLC2A2 SLC2A4 SRGN TMTC3	119180 1312 160418 1605 1636 166929 175 2220 23545 246 249 2585 2588 2720 2752 3425 3707 4153 4534 4706 4952 523 5277 5552 5660 5728 57511 6514 6517 811 8398 8897 929	Homo sapiens (human)
DOID:0110123	Bardet-Biedl syndrome 1 Aliases: BBS1	INPP5E PIGX	54965 56623	Homo sapiens (human)
DOID:0050558	Ullrich congenital muscular dystrophy Aliases: ULLRICH DISEASE Ullrich scleroatonic muscular dystrophy	COL6A1 CSPG4	1291 1464	Homo sapiens (human)
DOID:14731	Weaver syndrome Aliases: WEAVER-LIKE SYNDROME Weaver-Williams syndrome	PIK3CA	5290	Homo sapiens (human)
DOID:5693	adult liposarcoma	CPM FASN GPNMB PIK3CA PIK3CB PIK3CD PIK3CG PNPLA2 PNPLA3 PTEN SDC1 SMUG1 STS	10457 1368 2194 23583 412 5290 5291 5293 5294 57104 5728 6382 80339	Homo sapiens (human)
DOID:2321	obsolete dyspepsia	AGA CD14 CHGA COMT CYP2C19 GGT1 PTGDS PTGS1 PTGS2 UGT1A9	1113 1312 1557 175 2678 54600 5730 5742 5743 929	Homo sapiens (human)
DOID:0070086	schizophrenia 10 Aliases: SCZD10	ALPL CERK	249 64781	Homo sapiens (human)
DOID:271	hemangioma of liver Aliases: Angioma of Liver hepatic angioma	TALDO1	6888	Homo sapiens (human)
DOID:3890	acute intermittent porphyria Aliases: AIP - acute intermittent porphyria Pyrroloporphyria porphyria intermittent acute	ARSA CAT CYP3A5 CYP4F3 DEGS1 DPAGT1 ENO1 SMUG1	1577 1798 2023 23583 4051 410 847 8560	Homo sapiens (human)
DOID:2556	relapsing polychondritis Aliases: Chondromalacia, systemic	SMUG1	23583	Homo sapiens (human)
DOID:1882	atrial heart septal defect Aliases: atrial septal defect atrioseptal defect auricular septal defect congenital atrial septal defect interatrial septal defect interauricular septal defect	ACADVL ALG12 ARSA ARSD ATP6V1A B3GALT6 B3GAT3 B3GLCT CAT CFC1 CHST14 CHST3 COMT CYP11A1 CYP11B2 CYP1B1 CYP2E1 DSE FIG4 FKTN G6PC3 GAA GPC3 GPC6 MASP1 MMUT PCYT1A PIGA PIGN PIGQ PLD1 PTEN RENBP SMC3 TALDO1 TGDS TKT XYLT2	10082 113189 126792 1312 145173 1545 1571 1583 1585 2218 23483 23556 2548 26229 2719 29940 37 410 414 4594 5130 523 5277 5337 55997 5648 5728 5973 64132 6888 7086 79087 847 9091 9126 92579 9469 9896	Homo sapiens (human)
DOID:13207	proliferative diabetic retinopathy Aliases: PDR	ACE ADIPOQ AKR1A1 AKR1B1 ATP6AP2 CAT CD44 CPM DPEP1 ENO2 ENPP2 HPSE ICAM1 LGALS1 PLA2G7 PNPLA2 RBP4 RPE SDC1 SELP SORD VCAM1	10159 10327 10855 1368 1636 1800 2026 231 3383 3956 5168 57104 5950 6120 6382 6403 6652 7412 7941 847 9370 960	Homo sapiens (human)

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