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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 **2301 - 2325** of **4621** in total

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Disease ID ▼	Disease Name	Gene Symbol	Gene ID	Organism
DOID:11782	astigmatism	ARSG ART1 COL9A2 MAG MELTF PCYT1A SLC39A8	1298 22901 4099 417 4241 5130 64116	Homo sapiens (human)
DOID:11771	spontaneous ocular nystagmus Aliases: Ocular nystagmus Searching eye movements visual deprivation nystagmus	ACO2 ACOX1 ADPRS AGK AGRN ALG13 ALG2 ASAH1 ATP6V1A B3GLCT CA4 CACNA2D2 CACNA2D4 CHAT COG4 CYP1B1 CYP7B1 DEGS1 DHCR24 DLAT DPAGT1 EBP ECHS1 ELOVL4 ELOVL5 EXT2 FCSK GAD1 GALC GBA1 GBA2 GMPPB GPAA1 HEXB HGSNAT HIBCH HS6ST1 HSD17B4 IDH3A IDH3B INPP5E INPP5K L1CAM L2HGDH LARGE1 MAG MAN2B1 MANBA MECR MPDU1 NAGA NANS NEU1 NT5E NYX OCRL OGT PCYT1A PDHA1 PIGN PIGQ PIGS PIGT PLA2G6 PLD3 PMM2 PNPLA6 POMGNT1 PRNP PRPS1 RPIA SDHA SDHB SDHD SGSH SLC17A5 SLC33A1 SLC35A1 SLC35A2 SLC39A8 SMC3 SMPD1 SRD5A3 ST3GAL5 STS SYNJ1 XYLT2	10559 10682 10908 1103 138050 145173 1545 1718 1737 1798 1892 197258 2132 22934 23556 23646 2571 2581 25839 26275 2629 26503 29925 3074 3295 3419 3420 375790 3897 4099 412 4125 4126 427 4668 4758 4907 4952 50 51 51102 5130 5160 51604 51763 523 5373 54187 54936 55624 55750 5621 5631 56623 57704 60481 60506 6389 6390 6392 64116 64132 6448 6609 6785 7355 762 79644 79868 79944 8398 8473 85365 8560 8733 8867 8869 9091 9126 9197 9215 9254 93589 9394 94005 9420 9526	Homo sapiens (human)
DOID:11766	blind hypotensive eye	SMC3	9126	Homo sapiens (human)
DOID:11759	hypochromic anemia Aliases: ANEMIA HYPOCHROMIC	ACO1 CACNA2D3 CAT CD55 GOLPH3 IDUA LALBA PLA2G4A PLA2G6	1604 3425 3906 48 5321 55799 64083 8398 847	Homo sapiens (human)
DOID:11758	iron deficiency anemia	GPX1 TNF	2876 7124	Homo sapiens (human)
DOID:11755	choledocholithiasis	ACAT2 ACSS2 ALDOA BPGM CAT COMT CYP17A1 CYP27A1 CYP7A1 CYP8B1 DPEP1 G6PD GNE GPX1 GPX3 GUSB HK1 MICA OGG1 PFKM PKLR PLA2G10 PLA2G15 PLA2G2A PNPLA3 PTGS2 SLC35A2 SMPD1 SMUG1 ST8SIA4 SULT1E1 TPI1 UGGT1 UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A5 UGT1A6 UGT1A7 UGT1A8 UGT1A9	10020 100507436 1312 1581 1582 1586 1593 1800 226 23583 23659 2539 2876 2878 2990 3098 39 4968 5213 5313 5320 54575 54576 54577 54578 54579 54600 54657 54658 54659 55902 56886 5743 6609 669 6783 7167 7355 7903 80339 8399 847	Homo sapiens (human)
DOID:11729	Lyme disease Aliases: Bannwarth syndrome Bannworth's syndrome Lyme borreliosis Neurological Lyme disease lyme neuroborreliosis neuroborreliosis	ACAN ALOX5 CALR CANX CD14 CD38 CD48 DAG1 DCN ENO1 ENO2 FCN2 FOLR2 GOLPH3 HACD1 HK1 HPGDS MBL2 PLAUR PTGES3 PTGS1 PTGS2 VCAM1	10728 1605 1634 176 2023 2026 2220 2350 240 27306 3098 4153 5329 5742 5743 64083 7412 811 821 9200 929 952 962	Homo sapiens (human)
DOID:11727	facioscapulohumeral muscular dystrophy Aliases: Landouzy Dejerine muscular dystrophy Landouzy-Dejerine muscular dystrophy Muscular dystrophy, Landouzy-Dejerine	ACAN ACE ACHE AGK AGL ALDH7A1 ALOX12 ALPP APRT ATRNL1 B3GALNT2 B4GALNT2 B4GAT1 CD44 CHKA CHKB CRPPA CTNS DAG1 DCN DPEP1 DPM1 DPM2 DPM3 ENO1 FKRP FKTN GAA GK GLB1 GMPPB GNE HACD1 HPGDS HSPG2 IDH2 IMPA1 INPP5B INPP5K LARGE1 LARGE2 LGALS3 MBL2 MGAM PARP1 PIK3C2A PMM2 POGLUT1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PRG2 PRKAA2 PYGM RGN RXYLT1 SDC2 SI SIRT2 SLC3A1 ST3GAL4 SYNJ1 SYNJ2	10020 10329 10585 11041 1119 1120 120071 124872 142 148789 1497 1605 1634 1636 176 178 1800 2023 2218 22933 239 250 2548 26033 2710 2720 27306 29925 29954 3339 3418 353 3612 3633 3958 4153 43 501 51763 5286 5373 54344 5553 55624 5563 55750 56983 5837 6383 6476 6484 6519 729920 79147 84197 84892 8813 8818 8867 8871 8972 9104 9200 9215 960	Homo sapiens (human)
DOID:11726	Emery-Dreifuss muscular dystrophy Aliases: EDMD	G6PD	2539	Homo sapiens (human)
DOID:11725	Cornelia de Lange syndrome Aliases: Brachmann de Lange syndrome De Lange syndrome	ACADS AMT ARSA ARSD B4GALT7 BAAT CAT CHPT1 CYP11A1 DAG1 DCN DHDDS EXT1 FOLR1 GALNT14 GAPDH GCSH GLB1 GLDC GPI HSPG2 KL OGG1 PARP1 PGAM2 PIK3CA PIK3CB PIK3CD PIK3CG PRNP PTEN SGPL1 SMC3 STS TNKS XYLT2	11285 142 1583 1605 1634 2131 2348 2597 2653 2720 2731 275 2821 3339 35 410 412 414 4968 5224 5290 5291 5293 5294 5621 56994 570 5728 64132 79623 79947 847 8658 8879 9126 9365	Homo sapiens (human)
DOID:11724	limb-girdle muscular dystrophy Aliases: Erb's muscular dystrophy Leyden-Mbius muscular dystrophy limb girdle muscular dystrophy	ACAN ACE ACHE AGK AGL ALDH7A1 ALOX12 ALPP APRT ATRNL1 B3GALNT2 B4GALNT2 B4GAT1 CD44 CHKA CHKB CRPPA CTNS DAG1 DCN DPEP1 DPM1 DPM2 DPM3 ENO1 FKRP FKTN GAA GK GLB1 GMPPB GNE HACD1 HPGDS HSPG2 IDH2 IMPA1 INPP5B INPP5K LARGE1 LARGE2 LGALS3 MBL2 MGAM PARP1 PIK3C2A PMM2 POGLUT1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PRG2 PRKAA2 PYGM RGN RXYLT1 SDC2 SI SIRT2 SLC3A1 ST3GAL4 SYNJ1 SYNJ2	10020 10329 10585 11041 1119 1120 120071 124872 142 148789 1497 1605 1634 1636 176 178 1800 2023 2218 22933 239 250 2548 26033 2710 2720 27306 29925 29954 3339 3418 353 3612 3633 3958 4153 43 501 51763 5286 5373 54344 5553 55624 5563 55750 56983 5837 6383 6476 6484 6519 729920 79147 84197 84892 8813 8818 8867 8871 8972 9104 9200 9215 960	Homo sapiens (human)
DOID:11723	Duchenne muscular dystrophy Aliases: Muscular dystrophy, Duchenne	ACE ACHE ACOT7 ACSL4 AGL ALDH7A1 ALOX12 ALPP APRT ATRNL1 B3GALNT2 B4GALNT2 B4GAT1 CD38 CHKA CHKB CRPPA DAG1 DCN DPEP1 DPM1 DPM2 DPM3 ENO1 FKRP FKTN G6PD GAA GK GLB1 GMPPB GPC1 GPX3 HJV HPGDS HPRT1 HSPG2 IDH2 IGF2R IL1RL1 IMPA1 INPP5B INPP5K KL LARGE1 LARGE2 LGALS1 LGALS3 LIPG MBL2 MGAM MRC1 PARP1 PIK3C2A PKD1 PLA2G6 PMM2 POGLUT1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PRG2 PRKAA2 RGN RXYLT1 SDC2 SDC3 SI ST8SIA4 SYNJ1 SYNJ2 TM7SF2 VCAM1 VCAN XYLT1	10329 10585 11041 1119 1120 11332 120071 124872 142 1462 148738 148789 1605 1634 1636 178 1800 2023 2182 2218 239 250 2539 2548 26033 2710 2720 27306 2817 2878 29925 29954 3251 3339 3418 3482 353 3612 3633 3956 3958 4153 43 4360 501 51763 5286 5310 5373 54344 5553 55624 5563 56983 6383 64131 6476 7108 729920 7412 7903 79147 8398 84197 84892 8813 8818 8867 8871 8972 9104 9173 9215 9365 9388 952 9672	Homo sapiens (human)
DOID:11722	myotonic dystrophy type 1 Aliases: Dystrophia myotonica Steinert disease congenital myotonic dystrophy myotonic dystrophy of Steinert	ACE ALPP ATRNL1 CAT CHI3L1 CYP2B6 DAG1 DGCR2 FASN GAD2 GCK HAS2 HSPG2 LPL MGAM MRC1 MTM1 MTMR1 PGD PGP PLCB1 PRKAA2 PRNP SELE SELP SI SIRT6 SLC2A4 SLC35G1 ST8SIA4 UGT8	1116 1555 159371 1605 1636 2194 23236 250 2572 26033 2645 283871 3037 3339 4023 4360 4534 51548 5226 5563 5621 6401 6403 6476 6517 7368 7903 847 8776 8972 9993	Homo sapiens (human)
DOID:11721	glycogen storage disease VII Aliases: Glycogen storage disease 7 Glycogen storage disease, type VII Muscle phosphofructokinase deficiency glycogen storage disease type VII phosphofructokinase myopathy	APRT ENO2 G6PC1 GAA GBE1 IMPA1 PFKM PYGL PYGM	2026 2538 2548 2632 353 3612 5213 5836 5837	Homo sapiens (human)
DOID:11720	distal myopathy Aliases: distal muscular dystrophy	ACAN ACE ACHE AGK AGL ALDH7A1 ALOX12 ALPP APRT ATRNL1 B3GALNT2 B4GALNT2 B4GAT1 CD44 CHKA CHKB COMT CRPPA CTNS DAG1 DCN DPEP1 DPM1 DPM2 DPM3 ENO1 FKRP FKTN GAA GK GLB1 GMPPB GNE HACD1 HPGDS HSPG2 IDH2 IMPA1 INPP5B INPP5K LARGE1 LARGE2 LGALS3 MBL2 MGAM PARP1 PIK3C2A PMM2 POGLUT1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PRG2 PRKAA2 PYGM RGN RXYLT1 SDC2 SI SIRT2 SLC3A1 ST3GAL4 SYNJ1 SYNJ2	10020 10329 10585 11041 1119 1120 120071 124872 1312 142 148789 1497 1605 1634 1636 176 178 1800 2023 2218 22933 239 250 2548 26033 2710 2720 27306 29925 29954 3339 3418 353 3612 3633 3958 4153 43 501 51763 5286 5373 54344 5553 55624 5563 55750 56983 5837 6383 6476 6484 6519 729920 79147 84197 84892 8813 8818 8867 8871 8972 9104 9200 9215 960	Homo sapiens (human)
DOID:1172	hyperlipoproteinemia type IV Aliases: Endogenous hyperlipidaemia Fredrickson type IV Lipidemia Fredrickson type IV hyperlipoproteinemia Fredrickson type IV lipidaemia VLDL hyperlipoproteinemia familial hypertriglyceridemia	LPL	4023	Homo sapiens (human)
DOID:11719	oculopharyngeal muscular dystrophy Aliases: Muscular dystrophy, oculopharyngeal	ACAN ACE ACHE AGK AGL ALDH7A1 ALOX12 ALPP APRT ATRNL1 B3GALNT2 B4GALNT2 B4GAT1 CD44 CHKA CHKB CRPPA CTNS DAG1 DCN DPEP1 DPM1 DPM2 DPM3 ENO1 FKRP FKTN GAA GK GLB1 GMPPB GNE HACD1 HPGDS HSPG2 IDH2 IMPA1 INPP5B INPP5K LARGE1 LARGE2 LGALS3 MBL2 MGAM PARP1 PIK3C2A PMM2 POGLUT1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PRG2 PRKAA2 PYGM RGN RXYLT1 SDC2 SI SIRT2 SLC3A1 ST3GAL4 SYNJ1 SYNJ2	10020 10329 10585 11041 1119 1120 120071 124872 142 148789 1497 1605 1634 1636 176 178 1800 2023 2218 22933 239 250 2548 26033 2710 2720 27306 29925 29954 3339 3418 353 3612 3633 3958 4153 43 501 51763 5286 5373 54344 5553 55624 5563 55750 56983 5837 6383 6476 6484 6519 729920 79147 84197 84892 8813 8818 8867 8871 8972 9104 9200 9215 960	Homo sapiens (human)
DOID:11717	neonatal diabetes Aliases: diabetes mellitus syndrome in newborn infant neonatal diabetes mellitus	AGPAT2 ASAH1 GCK INS PDHX SLC2A2	10555 2645 3630 427 6514 8050	Homo sapiens (human)
DOID:11716	prediabetes syndrome Aliases: Prediabetes impaired glucose tolerance prediabetic state	ABO ACE ACOT7 ADH1C ALDH2 AMY2A APRT CAT CBR1 CD14 CERS6 CHI3L1 CLEC16A COMT CYB5R4 CYP19A1 CYP1B1 DCN DDOST DGAT1 ENPP1 FCGR3B G6PC1 G6PC2 G6PD GAD1 GAD2 GBA1 GCG GCK GGT1 HK2 HSD11B1 HSD11B2 ICAM1 IL1R1 INPPL1 KCNJ11 L1CAM LGALS3 LIPC LPIN1 LPL MBL2 MOGAT2 NAMPT NEIL1 NEU1 OGA OLR1 PGP PIK3CA PIK3CB PIK3CD PIK3CG PKM PLB1 PLCB1 PNPLA2 PNPLA3 PPARGC1A PPP1R3A PRKAA2 PTGES2 RTN4R SCD SGPL1 SI SIRT2 SIRT6 SLC17A5 SLC2A2 SLC2A3 SLC2A4 SLC35A1 SLC5A1 SOAT1 SRGN UMOD VCAM1	10135 10559 10724 10891 1116 11332 126 1312 151056 1545 1588 1634 1636 1650 217 2215 22933 23175 23236 23274 253782 2538 2539 2571 2572 2629 2641 2645 26503 2678 279 28 283871 3099 3290 3291 3383 353 3554 3636 3767 3897 3958 3990 4023 4153 4758 4973 51167 51548 5167 5290 5291 5293 5294 5315 5506 5552 5563 57104 57818 6319 6476 65078 6514 6515 6517 6523 6646 7369 7412 79661 80142 80168 80339 847 8694 873 8879 929	Homo sapiens (human)
DOID:11714	gestational diabetes Aliases: GDM Gestational diabetes mellitus Maternal gestational diabetes mellitus	ABO ACACA ACE ACOT7 ADIPOQ AGA APOD ATP6AP2 B3GAT1 CAT CD209 CD44 CYB5R4 CYP19A1 CYP1B1 CYP24A1 CYP27B1 CYP2R1 CYP7A1 DCN DGAT1 ENPP1 FADS1 FASN FCN2 FCN3 FOLR2 G6PC1 G6PC2 GAD1 GAD2 GAS1 GCK GGT1 GLO1 GPX1 GYS2 HKDC1 HPSE2 HSD11B1 HSD11B2 HSPG2 ICAM1 IL1R1 INS KLB LCT LDHA LEP LGALS1 LIPG LPIN1 LPL MBL2 MCAT MGAT1 MGAT2 MGLL MICA NAMPT NANS OGA OGG1 OLR1 PCK1 PIK3CA PIK3CB PIK3CD PIK3CG PIKFYVE PLA2G7 PNPLA2 PNPLA3 PRKAA2 PTEN PTGS2 RBP4 SCD SDHC SFTPC SLC2A2 SLC2A3 SLC2A4 SOAT1 ST3GAL4 ST6GALNAC3 VCAM1	100507436 10135 10159 10724 11332 11343 120227 152831 1545 1581 1588 1591 1594 1634 1636 175 200576 2194 2220 23175 2350 2538 256435 2571 2572 2619 2645 2678 27087 27349 2739 28 2876 2998 30835 31 3290 3291 3339 3383 347 3554 3630 3938 3939 3952 3956 3992 4023 4153 4245 4247 4968 4973 5105 51167 5167 5290 5291 5293 5294 54187 5563 57104 5728 5743 57818 5950 60495 6319 6391 6440 6484 6514 6515 6517 6646 7412 7941 80201 80339 847 8547 8694 9370 9388 960	Homo sapiens (human)
DOID:11713	diabetic angiopathy Aliases: Diabetic vascular disorder diabetic peripheral angiopathy	ACE AKR1B1 ATP6AP2 CANX CAT GPX1 HPSE ICAM1 LGALS3 PTEN RBP4 RENBP SELL SMPD1 TNF	10159 10855 1636 231 2876 3383 3958 5728 5950 5973 6402 6609 7124 821 847	Homo sapiens (human)
DOID:11712	lipoatrophic diabetes mellitus Aliases: lipoatrophic diabetes	AGL AGPAT1 AGPAT2 APRT ATP6V0A2 ATP6V1A B4GALT7 CD38 DDOST DOLK FKTN FUCA1 GPC3 LPIN1 LPIN2 LPL PARP2 PCK1 PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PMM2 PNPLA2 SCD SDHA SMUG1 XYLT2	10038 10554 10555 11285 1650 178 2218 22845 23175 23545 23583 2517 2719 353 4023 5105 5130 523 5290 5291 5293 5294 5373 57104 6319 6389 64132 952 9663	Homo sapiens (human)
DOID:1171	hyperlipoproteinemia type V Aliases: Fredrickson type V lipaemia familial hyperlipoproteinemia type V familial type 5 hyperlipoproteinemia	AMT DGAT1 GPIHBP1 LCAT LPL PNPLA2	275 338328 3931 4023 57104 8694	Homo sapiens (human)
DOID:11702	dysgammaglobulinemia	UNG	7374	Homo sapiens (human)
DOID:11701	selective IgA deficiency disease Aliases: Immunoglobulin A deficiency Selective immunoglobulin A deficiency selective IgA immunodeficiency	AGA CLEC16A CYP21A2 FUT2 FUT3 MBL2 PTEN SDC1	1589 175 23274 2524 2525 4153 5728 6382	Homo sapiens (human)

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