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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 **4676 - 4700** of **7942** in total

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Disease ID ▲	Disease Name	Gene Symbol	Gene ID	Organism
DOID:1432	blindness Aliases: vision impairment vision loss visual impairment	ALG13 ALG2 AMACR ARSG B3GALNT2 B3GLCT B4GAT1 CA4 CACNA2D4 CD109 CLC CLN5 CYP1B1 CYP2U1 DHDDS EFNA5 ELOVL4 ENPP1 EPHX2 EPM2A FASN FH FKRP FKTN GALC GM2A GMPPA GMPPB GPAA1 HADHA HEXA HEXB HGSNAT HK1 HS6ST1 HSD17B4 HSPG2 IDH3A IDH3B IDUA INPP5E LARGE1 LCAT LSS MASP1 MECR MPDU1 MPI OCRL PCYT1A PGK1 PIGT PLA2G6 PMM2 PNPLA6 PNPLA7 POMGNT1 POMK POMT1 POMT2 PPT1 PRNP PRPS1 RFT1 RPE SDHA SDHB SDHD SMUG1 SRD5A3 ST3GAL5 SUCLA2 SUMF1 SYNJ1 VCAN XYLT2	10585 10908 11041 113612 1178 1203 135228 138050 145173 1462 148789 1545 1946 2053 2194 2218 2271 22901 23583 23600 2581 2760 285362 29925 29926 29954 3030 3073 3074 3098 3295 3339 3419 3420 3425 375775 3931 4047 4351 4952 51102 5130 51604 5167 5230 5373 5538 55624 5621 5631 5648 56623 6120 6389 6390 6392 64132 6785 762 79147 7957 79644 79868 79947 8398 84197 85365 8733 8803 8867 8869 91869 9215 93589 9394 9526	Homo sapiens (human)
DOID:14320	generalized anxiety disorder	ACACA ACE ACHE ACSL4 ADH1B AKR1C1 AKR1C3 ALDH2 ALDH5A1 ALOX15 ALPL AMY1A AMY1B AMY1C ARSA ARSD ARSG ARSI B3GAT1 CAT CHGA CNTN3 COMT CPM CYP17A1 CYP1A1 CYP1A2 CYP2B6 CYP2C19 CYP2E1 ENO1 FDPS FIG4 GAD1 GAD2 GALNS GCK GLA GLO1 GLT8D1 GM2A GOLPH3 GPNMB HPSE HS6ST1 HSD11B2 HSPG2 INPP5K LGALS3 LIPA LYPD6 MGLL MPI NANS NDST3 NT5E OCRL PAFAH1B1 PARP1 PC PCCB PCYT1A PIK3CA PMM2 PRNP PTEN PTGS2 SDHD SIRT6 SLC33A1 SLC35C1 SMC3 SMPD1 SMUG1 SPHK1 SRD5A1 STS TMED9 UGT2B15 UMOD	10457 10855 1113 11343 125 130574 1312 1368 142 1543 1544 1555 1557 1571 1586 1636 1645 2023 217 2182 2224 22901 23583 246 249 2571 2572 2588 2645 27087 2717 2739 276 2760 277 278 31 3291 3339 340075 3958 3988 410 412 414 43 4351 4907 4952 5048 5067 5091 5096 5130 51548 51763 5290 5373 54187 54732 55343 55830 5621 5728 5743 6392 64083 6609 6715 7366 7369 7915 847 8644 8877 9126 9197 9348 9394 9896	Homo sapiens (human)
DOID:14323	Marfan syndrome Aliases: Marfan's syndrome	ABO ACAN ACE ACHE ACSM3 ACSS2 ADH1B ADH1C AKR1C1 AKR1C4 AKR1D1 ALDH1A3 ALDH2 ALG9 ALOX5 ALPP AMACR ANXA5 APRT ARSD ARSH ATRNL1 B3GAT3 CANX CAT CBR1 CD109 CD44 CEACAM5 CEACAM7 CFC1 CH25H CHAT CHST14 CLEC1B CYP17A1 CYP1A2 CYP1B1 CYP2B6 DAG1 DCN DGKK DHCR24 DHCR7 DOLK EBP ENOSF1 EXT2 FBP1 FCGR3B FCN2 FIG4 FUT2 G6PC3 GAL3ST1 GAS1 GCK GLDC GLUL GPC3 GPC5 HEXD HPRT1 ICAM1 IDH1 IDS IL1RAPL1 INPP4A INPP5D KLRC1 LFNG LIPA MAG MASP1 MLYCD MRC1 NAAA NDUFAB1 NEU1 OGA OGG1 PAFAH1B1 PAPSS2 PDHA2 PGAP3 PGD PGM1 PIGA PIGN PIGO PIGP PIGT PIGV PIGY PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKD2 PLA2G15 PLB1 PLCD1 PMM2 POMT1 POMT2 PRKAA2 PRKCSH PRNP PSAP PTEN PTGDS PTGS1 PTGS2 SC5D SCD SDC2 SDHB SGPL1 SHMT1 SIGLEC1 SIGLEC7 SIRT6 SLC33A1 SLC35A1 SLC35A3 SLC3A1 SMC3 SRD5A3 SULT1E1 TECR TGDS TMEM165 VCAN	1048 10559 10585 10682 10724 1087 1103 1109 11141 113189 125 126 135228 139189 1462 151056 1544 1545 1555 1586 1605 1634 1636 1645 1717 1718 176 2132 217 220 2203 2215 2220 2262 22845 23417 23443 23483 23556 23600 23659 240 250 2524 26033 2619 26229 2645 27036 27163 2719 2731 2752 28 284004 29954 308 3251 3383 3417 3423 347527 353 3631 3635 3821 3955 3988 4099 414 43 4360 4706 4758 4968 5048 51227 51266 51548 51604 5161 5226 5236 5277 5289 5290 5291 5293 5294 5310 5311 5333 5373 55556 5563 55650 55858 5589 55902 55997 5621 5648 5660 5728 5730 5742 5743 6296 6309 6319 6383 6390 6470 6519 6614 6718 6783 79644 79796 821 847 84720 84992 873 8879 9023 9060 9126 9197 92579 93210 9514 9524 960 9896	Homo sapiens (human)
DOID:14330	Parkinson's disease Aliases: Parkinson disease paralysis agitans	foxo1a parp1	560788 768121	Danio rerio (zebrafish)
DOID:14330	Parkinson's disease Aliases: Parkinson disease paralysis agitans	Akt1 Akt2 Gpi Gsk3b Gsto2 Igf2 Lep Ogg1 Parp1 Pgk1 Ppargc1a Prkaa1	24185 24483 24644 25233 25591 25608 292804 309465 65248 81528 83516 84027	Rattus norvegicus (Norway rat)
DOID:14330	Parkinson's disease Aliases: Parkinson disease paralysis agitans	ACO1 GTT2 OGG1 PGI1 PGK1	850370 850666 851013 852495 854942	Saccharomyces cerevisiae S288C
DOID:14330	Parkinson's disease Aliases: Parkinson disease paralysis agitans	ACACA ACE ACHE ACO1 ACO2 ACOT7 ACSBG1 ADH1B ADH1C ADH4 ADH7 AKR1A1 AKT1 AKT2 ALDH2 ANXA5 APRT ARSA ASAH1 ATP6AP2 B3GALT4 B3GAT1 B4GALNT1 BST1 CALR3 CALR CAT CD14 CD38 CD44 CD55 CEACAM6 CEL CHAT CHI3L1 CHIT1 CNTN1 CNTN2 COMT CTNS CYP17A1 CYP1A1 CYP1A2 CYP1B1 CYP27B1 CYP2B6 CYP2C19 CYP2C9 CYP2E1 CYP3A5 CYP4F3 DCN DGKD DHRS11 DLD DPEP1 ELOVL7 ENO2 EPHX2 FASN FBP1 FBXO2 FCER2 FCGR3B FH G6PD GAD1 GAD2 GALC GALNS GAPDH GBA1 GBA2 GFPT1 GLA GLB1 GLUL GNPDA2 GPI GPNMB GPX1 GSK3B GSTO1 GSTO2 HAS2 HEXA HK1 HK2 HPGDS HSD17B6 HSD17B7 HSD3B7 ICAM1 IDUA IGF2 IGF2R INPP5F INPP5K ISYNA1 KL L1CAM LEP LGALS1 LGALS3 LGALS4 LYPD5 MAG MAPK14 MCAT MDGA2 MGLL MRC1 NAGLU NEIL1 NT5E NTM OGA OGG1 PAFAH1B1 PARP1 PDHA1 PDIA3 PGK1 PGK2 PGP PIGC PIK3C2B PIK3CA PIK3CB PIK3CD PIK3CG PISD PKD1 PLA2G1B PLA2G6 PLB1 PLD1 PLD2 PNPLA6 PPARGC1A PRKAA1 PRKAA2 PRNP PSAP PTEN PTGDS PTGES3 PTGES PTGIS PTGS2 RENBP RGMA RTN4R SARM1 SCD SDHA SHMT1 SHMT2 SI SIGLEC7 SIRT2 SLC17A5 SLC2A4 SLC33A1 SLC39A8 SMPD1 SMPD2 SMPD3 SMUG1 SOAT1 SPTSSB ST3GAL2 ST8SIA4 STBD1 SUCLA2 SYNJ1 SYNJ2 TALDO1 TIGAR TKT TM7SF2 TMED9 TNKS2 UGT1A9 UMOD VCAM1 XYLT2	10159 10327 10457 1056 10724 10728 10891 10908 1103 1116 1118 11332 11343 119391 125 125972 126 127 1272 131 1312 132789 142 1432 1497 151056 1543 1544 1545 1555 1557 1559 1571 1577 1586 1594 1604 161357 1634 1636 165679 1738 1800 2026 2053 207 208 217 2194 2203 2208 2215 2271 22876 22933 23098 23205 23583 23761 2539 2571 2572 2581 2583 2588 2597 26232 2629 26503 2673 27036 27087 2717 2720 27306 27349 2752 2821 283871 284348 2876 2923 2932 3037 3073 308 3098 3099 31 3383 3425 3481 3482 353 3897 3952 3956 3958 3960 4051 4099 410 427 43 4360 4669 4680 48 4907 4968 50 5048 50863 51477 51478 5160 51763 5230 5232 5279 5287 5290 5291 5293 5294 5310 5319 5337 5338 54600 54732 55512 5562 5563 5621 5660 56963 57103 5728 5730 5740 5743 57704 5973 6319 6389 64116 64132 6470 6472 6476 6483 65078 6517 6609 6610 6646 683 6888 6900 7086 7108 7369 7412 7903 79154 79661 79993 80270 80351 811 8398 847 8527 8630 8705 8803 8867 8871 8987 9197 929 9365 9446 952 9536 960	Homo sapiens (human)
DOID:14330	Parkinson's disease Aliases: Parkinson disease paralysis agitans	akt1.S	399170	Xenopus laevis (African clawed frog)
DOID:14330	Parkinson's disease Aliases: Parkinson disease paralysis agitans	gba-1 gba-2 gba-3 gba-4 gsto-1 parp-1 pgk-1	171965 173574 177314 178535 183000 183155 266823	Caenorhabditis elegans
DOID:14330	Parkinson's disease Aliases: Parkinson disease paralysis agitans	Axn Calr Ogg1 Parp1 Pgi Pgk se sgg	31248 31806 33461 3355109 35886 38973 41166 43565	Drosophila melanogaster (fruit fly)
DOID:14330	Parkinson's disease Aliases: Parkinson disease paralysis agitans	Akt1 Akt2 Gba1 Gpi1 Gsk3b Gsto1 Gsto2 Igf2 Lep Mapk14 Ogg1 Pgk1 Pgk2 Ppargc1a Prkaa1	105787 11651 11652 14466 14751 14873 16002 16846 18294 18655 18663 19017 26416 56637 68214	Mus musculus (house mouse)
DOID:14336	estrogen excess Aliases: hyperestrogenism	CYP19A1	1588	Homo sapiens (human)
DOID:14365	systemic primary carnitine deficiency disease Aliases: carnitine transporter deficiency carnitine uptake defect deficiency of plasma-membrane carnitine transporter primary carnitine deficiency renal carnitine transport defect	ACADM CD55 CHPT1 CPT1A CPT1B CPT2 IMPA1 LFNG MBL2 PNPLA2 SCD5 SCD SFTPD	1374 1375 1376 1604 34 3612 3955 4153 56994 57104 6319 6441 79966	Homo sapiens (human)
DOID:1440	Machado-Joseph disease Aliases: Azorean disease MJD SCA3 spinocerebellar ataxia 3 spinocerebellar ataxia type 3	ARSB GFPT1 GFPT2 PLA2G2A	2673 411 5320 9945	Homo sapiens (human)
DOID:14400	capillary leak syndrome	CD22 ICAM1	3383 933	Homo sapiens (human)
DOID:14402	critical illness polyneuropathy	ACE AGRN ARSA B3GAT1 CAT CD55 CHAT COMT CYP7B1 DEGS1 FUCA1 GPX1 HADHB MAG NGLY1 PMM2 PNP PNPLA6 PRNP PRPS1 PSAP RPIA SCP2 TKT	10908 1103 1312 1604 1636 22934 2517 27087 2876 3032 375790 4099 410 4860 5373 55768 5621 5631 5660 6342 7086 847 8560 9420	Homo sapiens (human)
DOID:1441	autosomal dominant cerebellar ataxia Aliases: spinocerebellar ataxia	CAT CNTN4 ELOVL4 ELOVL5 ENPP2 GLO1 HPGDS HSD17B6 MPI OGA PLA2G1B PLA2G2A PLA2G6 PLB1 PNPLA6 PRNP SDHC SPTLC3 SUMF1 TREH	10724 10908 11181 151056 152330 27306 2739 285362 4351 5168 5319 5320 55304 5621 60481 6391 6785 8398 847 8630	Homo sapiens (human)
DOID:14415	Legg-Calve-Perthes disease Aliases: Calve - Perthes' disease Coxa plana Juvenile osteochond-hip/pelvis Juvenile osteochondrosis of hip and/or pelvis Perthe's disease Perthes disease juvenile osteochondrosis of hip and pelvis osteochondrosis of Legg-Calve-Perthes pseudocoxalgia	EXT1 GNPTAB INPP5K NAGLU SLC2A10	2131 4669 51763 79158 81031	Homo sapiens (human)
DOID:1442	obsolete Alpers syndrome	PRNP	5621	Homo sapiens (human)
DOID:1443	cerebral degeneration Aliases: Brain degeneration	ABO ACACA ACADVL ACAT1 ACE ACER3 ACHE ACO1 ACO2 ACOT7 ACOT8 ACSL6 ACSS2 ADH1B ADPRS AGA AGPS AGRN AKR1A1 AKR1C2 AKR1C4 ALDH2 ALDH7A1 ALG11 ALG13 ALG1 ALG3 ALOX12 ALOX5 ALPI ALPP ANXA5 APRT ARSA ASAH1 ATP6AP2 ATP6V1A ATRNL1 B3GALNT2 B3GALT4 B3GAT1 B3GLCT BCAN BST1 CALR CAT CD14 CD177 CD209 CD33 CD38 CD44 CD55 CD74 CDH13 CEACAM5 CEACAM6 CFC1 CH25H CHAT CHI3L1 CHIT1 CLC CLEC16A CLEC1B CLEC7A CLN5 CNTN1 CNTN2 COG1 COG4 COG5 COG6 COG7 COLGALT1 COLGALT2 COMT CPO CPT1A CRYL1 CS CSPG4 CTNS CYP11A1 CYP17A1 CYP19A1 CYP1A2 CYP27A1 CYP2B6 CYP2C9 CYP2J2 CYP3A4 CYP46A1 CYP7B1 CYP8B1 DCN DEGS1 DGKQ DHCR24 DHDDS DHRS11 DLD DLST DPEP2 DSE EDEM2 EFNA5 ENO1 ENO2 ENPP2 EPHX2 EPM2A EXT1 EXT2 FASN FBXO2 FCGR3B FCN2 FDPS FH FOLR2 FUCA1 G6PD GAD1 GAD2 GALNS GAPDH GAPDHS GBA1 GBA2 GFRA1 GGT1 GLB1 GLO1 GLUL GM2A GNE GNPAT GNPDA2 GOLPH3 GPAA1 GPC1 GPC6 GPI GPNMB GPX1 GTDC1 GUSB HAS1 HAS3 HK1 HMGCS2 HPGDS HPSE2 HPSE HS3ST1 HSD11B1 HSD17B1 HSD17B4 HSD17B6 HSD17B7 HSPG2 HYI ICAM1 IDH1 IDH2 IGF2R IL1R1 IL1RAP IL1RL1 IMPA1 INPP5D INPP5K INPPL1 ITPKB KL KLRC1 L1CAM LCAT LCT LDHA LGALS3 LGALS4 LGALS9 LIPA LIPC LIPG LMAN2L LPL LTC4S LYZ LYZL4 MAG MAN1B1 MAN2B1 MASP1 MBL2 MBOAT7 MDH2 MELTF MGAT3 MGLL MICA MMUT MOGAT3 MOGS MPDU1 MPG MPI MRC1 NAAA NAGA NAMPT NANP NANS NCAM1 NDST1 NEU1 NGLY1 NPL NT5E OGA OGDH OGDHL OGG1 OGT OLR1 PAFAH1B2 PARP1 PC PCCA PCCB PCK1 PCYT1A PCYT1B PCYT2 PDHA1 PEMT PFKFB3 PGAP1 PGD PGP PI4KA PIGC PIGG PIGL PIGN PIGT PIGU PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PIKFYVE PKM PLA2G15 PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLA2G7 PLAUR PLB1 PLCB1 PLCG2 PLD1 PLD2 PLD3 PLPP4 PMM2 PNP PNPLA2 PNPLA7 PPT1 PRG2 PRKAA2 PRNP PTDSS1 PTEN PTGDS PTGES2 PTGES3 PTGES PTGS1 PTGS2 RENBP RGN RTN4R SCD5 SCD SCP2 SDC2 SDC3 SDCBP2 SFTPA1 SFTPC SGMS2 SGSH SI SIGLEC7 SIRT2 SIRT6 SLC17A5 SLC2A3 SLC2A4 SLC33A1 SLC35A1 SLC35A2 SMPD2 SMPD3 SMUG1 SOAT1 SPHK1 SPHK2 SQLE ST3GAL3 ST3GAL4 ST6GAL1 ST8SIA1 STS SUCLA2 SUCLG1 SUCLG2 SUMF1 SYNJ1 TECR TIGAR TKT TM7SF2 TMED9 TPI1 TUSC3 UGCG UGT1A1 UMOD UNG VCAM1 VCAN	10005 10020 100507436 10082 1012 10135 10159 10195 10327 10400 10457 10466 1048 10559 10724 10728 10855 10858 1103 1109 1116 1118 11253 11332 11343 1178 1203 125 1272 128869 130749 1312 131375 132789 1374 140838 142 1431 145173 1462 1464 148789 1497 151056 1544 1555 1559 1573 1576 1582 1583 1586 1588 1593 1604 1609 1634 1636 1646 166929 1718 1738 1743 175 1946 196051 200576 2023 2026 2053 2131 2132 217 2194 2215 2220 2224 2271 22933 23127 23236 23274 23305 2350 23556 23583 23646 23659 239 240 248 250 2517 2539 2571 2572 25839 2588 2597 26033 26232 2629 26330 26503 2674 2678 27036 27087 27111 27163 2720 27306 2739 2752 2760 28 2817 2821 283871 285362 2876 2990 29940 3036 3038 308 30835 3098 31 3158 3290 3292 3295 3339 3340 3383 3417 3418 346606 3482 353 3554 3556 3612 3635 3636 37 3707 375775 375790 38 3821 3897 3931 3938 3939 3958 3960 3965 3988 3990 4023 4056 4069 4099 410 412 4125 4153 4191 4241 4248 427 43 4350 4351 4360 440138 4594 4668 4680 4684 4758 48 4860 4907 4967 4968 4973 50 501 5049 5091 5095 5096 5105 51084 51266 5130 51478 51548 5160 51604 5168 51763 5209 5226 523 5279 5289 5290 5291 5293 5294 5297 5315 5319 5320 5321 5329 5336 5337 5338 5373 54187 54658 54732 54872 54936 55331 5538 55512 5553 5563 55741 55753 55768 55902 55997 56052 5621 5648 56848 57103 57104 57126 5728 5730 5742 5743 57511 57704 5833 5973 60495 6319 6342 63827 6383 64083 64174 6440 6448 64581 6476 6480 6484 6487 6489 65078 6515 6517 653509 6610 6646 6713 683 6900 7086 7108 7167 7355 7357 7369 7374 7412 7841 79143 79154 7941 7957 79709 79712 79868 7991 79947 79966 80055 80142 80896 811 81562 81888 8398 8443 847 8473 8540 8560 8630 8705 8733 8801 8802 8803 8867 8877 9023 9104 9173 91949 9197 929 9365 9382 9388 9420 945 9468 9487 952 9524 9526 9536 960 9672 972 9791 9957	Homo sapiens (human)
DOID:14443	cholinergic urticaria	CEACAM5 CLEC10A MGLL	10462 1048 11343	Homo sapiens (human)
DOID:14445	chronic closed-angle glaucoma Aliases: Anatomical narrow angle glaucoma chronic angle-closure glaucoma chronic narrow angle glaucoma	AKR1C4 CAT CHAT CYP1B1 CYP2B6 DCN DPM2 NT5E OGG1	1103 1109 1545 1555 1634 4907 4968 847 8818	Homo sapiens (human)
DOID:14447	gonadal dysgenesis Aliases: Gonadal dysgenesis syndrome	ASAH1 CAT CD38 CYP19A1 CYP21A2 GAPDH HSD17B4 INPPL1 MBL2 MOGS NT5E PCYT1A PGD RXYLT1 SMC3 SRD5A2	10329 1588 1589 2597 3295 3636 4153 427 4907 5130 5226 6716 7841 847 9126 952	Homo sapiens (human)
DOID:14448	46,XY sex reversal Aliases: 46 XY gonadal dysgenesis Pure gonadal dysgenesis 46,XY Swyer syndrome	AKR1B1 AKR1C2 AKR1C4 CAT CYP11A1 CYP11B1 CYP11B2 GPX2 HPSE LPIN1 PGD PLCB4 PLCE1 PTGS2	10855 1109 1583 1584 1585 1646 231 23175 2877 51196 5226 5332 5743 847	Homo sapiens (human)
DOID:14449	mixed gonadal dysgenesis	PGD	5226	Homo sapiens (human)

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