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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 **2001 - 2025** of **4621** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:13868	hypoactive sexual desire disorder Aliases: Lack or loss of sexual desire	CYP17A1	1586	Homo sapiens (human)
DOID:13994	cleidocranial dysplasia Aliases: Marie-Sainton Disease cleidocranial dysostosis	ALDH2 B3GAT3 B4GALT7 CHST3 COLEC10 COLEC11 EXT1 EXT2 HSPG2 MASP1 PIK3CA PRKAA2 SMC3 UMOD XYLT1	10584 11285 2131 2132 217 26229 3339 5290 5563 5648 64131 7369 78989 9126 9469	Homo sapiens (human)
DOID:0111217	autosomal dominant centronuclear myopathy Aliases: AD-CNM	MTM1 MTMR14	4534 64419	Homo sapiens (human)
DOID:3039	cecum adenocarcinoma Aliases: Cecal adenocarcinoma	NT5E	4907	Homo sapiens (human)
DOID:0111164	molybdenum cofactor deficiency type A Aliases: MOCOD type A MOCODA combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type A molybdenum cofactor deficiency complementation group A	GLUL PNP	2752 4860	Homo sapiens (human)
DOID:7642	cholangiolocellular carcinoma	IDH1 NCAM1 PTEN	3417 4684 5728	Homo sapiens (human)
DOID:0050904	salivary gland carcinoma	PTGS1	5742	Homo sapiens (human)
DOID:0070255	congenital disorder of glycosylation type IIc Aliases: CDG IIc CDG2C CDGIIc Rambam-Hasharon syndrome	DHCR7 DLD FUT4 GMDS SLC35C1	1717 1738 2526 2762 55343	Homo sapiens (human)
DOID:3312	bipolar disorder Aliases: Manic Bipolar Affective disorder Manic Depressive disorder Manic bipolar I disorder bipolar depression bipolar disorder manic phase manic depression manic disorder mixed bipolar disorder	ABO ACACA ACADS ACE ACHE ACO1 ACO2 ACSL4 ADIPOQ AKR1C4 AKT1 ALDH2 ALOX12 CALR CAT CDH13 CDS1 CEACAM5 CHI3L1 CLEC10A CNTN4 CNTN5 CNTN6 COMT CS CYP19A1 DGCR2 DGKB DGKH EHHADH ETNPPL FADS1 FADS2 FUT3 G6PD GAD1 GAD2 GALC GFRA2 GLO1 GLT8D1 GPX3 GSK3B HPGDS HPSE HSD3B2 HSPG2 IDH1 IDH2 IDH3A IDH3B IL18R1 IL1R1 IMPA1 IMPA2 INPP1 KL L1CAM LDHA LMAN2L MACROD1 MACROD2 MBL2 MDGA1 ME2 MGAT4A MPPE1 MRC1 NCAM1 NCAN NPL NTNG1 PARP10 PARP9 PC PFKFB3 PFKL PGAM1 PGAP3 PGP PI4K2B PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PIP4K2A PIP4K2C PLA2G10 PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLB1 PLCB1 PLCB4 PLCG1 PNPLA3 POGLUT2 PRNP PTGDS PTGS1 PTGS2 RBKS RPN2 SCD SDHC SIGLEC7 SLC35F4 SMPD1 SMUG1 SPTLC1 SRD5A1 ST3GAL1 ST3GAL3 ST8SIA2 STT3A SYNJ1 TMTC1 TPI1 UXS1	1012 1040 10462 1048 10558 10855 1109 1116 11320 1312 140733 1431 1463 151056 152330 1588 1607 160851 1636 1962 207 217 2182 22854 23236 23583 239 2525 2539 2571 2572 2581 266727 2675 27036 27255 27306 2739 28 283871 2878 28992 2932 31 3284 3339 3417 3418 341880 3419 3420 35 3554 3612 3613 3628 3703 3897 3939 3992 4153 4200 43 4360 4684 48 50 5091 5209 5211 5223 5289 5290 5291 5293 5294 5305 5319 5320 5321 5332 5335 53942 55300 55830 5621 5730 5742 5743 6185 6319 6391 64080 6482 64850 6487 65258 6609 6715 7167 79070 79837 80146 80339 80896 811 8128 81562 83666 83857 8398 8399 847 84875 8809 8867 93210 9365 9370 9415 9993	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:0070202	familial partial lipodystrophy type 2 Aliases: FPLD2 familial lipodystrophy of limbs and lower trunk familial partial lipodystrophy Dunnigan type reverse partial lipodystrophy	LPL	4023	Homo sapiens (human)
DOID:0080333	aortic valve disease 1	ACAN ACE ARSD ATP6V0A2 B3GALT6 B3GAT3 CD44 CHST3 ENPP1 GAPDH ICAM1 KL NT5E PLA2G7 PLPP3 STS	126792 1636 176 23545 2597 26229 3383 412 414 4907 5167 7941 8613 9365 9469 960	Homo sapiens (human)
DOID:8538	reticulosarcoma Aliases: histiocytic lymphoma large-cell Lymphomas	ACAA1 ACACA ACE ACSBG1 AKR1A1 AKR1C1 AKR1C3 ALG1 ALPP ANXA5 APRT ATRNL1 CAT CD14 CD22 CD33 CD38 CD44 CD55 CDH13 CFC1 COMT CYP17A1 CYP1A1 CYP1B1 CYP24A1 CYP27B1 CYP2B6 CYP2C9 CYP2E1 EPHX2 FCGR3B FCN2 FH G6PD GBA1 GPX1 HPGDS HYAL2 ICAM1 IDH1 IDH2 KLRK1 LGALS1 LGALS3 MASP2 MCAT MTAP NCAM1 NTHL1 OGG1 PAFAH1B1 PARP1 PC PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGS2 SELE SELL SHMT1 SHMT2 SLC35B2 SMUG1 SOAT1 TMEM260 VCAM1 VTCN1	1012 10327 10747 1312 142 1543 1545 1555 1559 1571 1586 1591 1594 1604 1636 1645 2053 2215 2220 2271 22914 23205 23583 250 2539 26033 2629 27306 27349 2876 30 308 31 3383 3417 3418 347734 353 3956 3958 4507 4684 4913 4968 5048 5091 5290 5291 5293 5294 54916 55997 56052 5728 5743 6401 6402 6470 6472 6646 7412 79679 847 8644 8692 929 933 945 952 960	Homo sapiens (human)
DOID:4594	microcystic meningioma	ALDH1A3 ALOX5 ALPL CD33 CD44 CD55 CYP19A1 CYP1A1 CYP1B1 CYP4F3 DHCR24 ENO2 FASN FCGR3B FOLR1 GAPDH GPX1 HPGDS HPRT1 IL18R1 LARGE1 LGALS1 LGALS3 MMP25 MMUT MSLN MUTYH NT5E NTHL1 OGA PIK3CA PIK3CB PIK3CD PIK3CG PLA2G1B PLA2G2A PLA2G6 PLA2G7 PLAUR PLB1 PTEN PTGDS PTGS1 PTGS2 SDHB SDHC SDHD SMUG1 SOAT1 STS TIPARP TNKS VCAN	10232 10724 1462 151056 1543 1545 1588 1604 1718 2026 2194 220 2215 2348 23583 240 249 2597 25976 27306 2876 3251 3956 3958 4051 412 4594 4595 4907 4913 5290 5291 5293 5294 5319 5320 5329 5728 5730 5742 5743 6390 6391 6392 64386 6646 7941 8398 8658 8809 9215 945 960	Homo sapiens (human)
DOID:0110155	Charcot-Marie-Tooth disease type 2A2A Aliases: CMT2A2A Charcot-Marie-Tooth neuronal type 2A2 Charcot-Marie-Tooth neuropathy type 2A2 HMSN IIA2 HMSN2A2 autosomal dominant axonal Charcot-Marie-Tooth disease type 2A2 hereditary motor and sensory neuropathy IIA2	ACE AMACR ARSA CANX CAT CD44 CYP4F3 DGAT2 FIG4 GBA1 GPX2 HADHB HK1 HPSE LCAT LPIN1 MAG MTM1 MTMR2 PGK1 PGM1 PLCB4 PLCE1 PRNP PRPS1 PTGS2 SIGLEC7 SPTLC1 SPTLC2	10558 10855 1636 23175 23600 2629 27036 2877 3032 3098 3931 4051 4099 410 4534 51196 5230 5236 5332 5621 5631 5743 821 84649 847 8898 9517 960 9896	Homo sapiens (human)
DOID:0050426	Stevens-Johnson syndrome	ACADS ACSS2 AKR1B1 ALOX5 CD33 CYP2B6 CYP2C19 CYP2C9 CYP3A4 FOLR1 FOLR2 HSPG2 MASP2 MICA PARP1 PLA2G15 PTGIS PTGS2 SDHD SGSH SLC17A5 TNF UPP1	100507436 10747 142 1555 1557 1559 1576 231 2348 2350 23659 240 26503 3339 35 55902 5740 5743 6392 6448 7124 7378 945	Homo sapiens (human)
DOID:92	speech disorder	ACOX1 AGA ALDH7A1 ASAH1 B3GALNT2 CALR CNTN4 CPT1A CYP27A1 DDOST FH FKRP FKTN GBA1 GCDH GMPPB GPC3 HK1 LARGE1 MANBA NEU1 PAFAH1B1 PNPLA6 POMGNT1 POMT1 POMT2 PTEN SMC3 STS TBXAS1	10585 10908 1374 148789 152330 1593 1650 175 2218 2271 2629 2639 2719 29925 29954 3098 412 4126 427 4758 501 5048 51 55624 5728 6916 79147 811 9126 9215	Homo sapiens (human)
DOID:1229	paranoid schizophrenia Aliases: Paranoid type schizophrenia Paraphrenia - late Paraphrenic schizophrenia chronic paranoid schizophrenia paranoid type schizophrenia subchronic state	ABO AKR1C4 ALDH3B1 CALR COMT CYP1A2 CYP2B6 DGCR2 HSD3B2 IMPA1 MANEA PLA2G6 SIGLEC7	1109 1312 1544 1555 221 27036 28 3284 3612 79694 811 8398 9993	Homo sapiens (human)
DOID:0050812	spondyloepimetaphyseal dysplasia, Pakistani type Aliases: spondyloepimetaphyseal dysplasia Pakistani type	PAPSS2	9060	Homo sapiens (human)
DOID:11481	constrictive pericarditis	SMUG1	23583	Homo sapiens (human)
DOID:10124	corneal disease	ADH1B ALDH3A2 CA4 CAT CLC DHDDS ENO1 GALNT14 GPX1 HGSNAT HKDC1 HPSE ICAM1 IDH3A IDH3B LGALS1 LGALS3 NEIL1 NT5E PARP1 PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG POMGNT1 SFTPA1 SLC2A10 UGCG	10855 1178 125 138050 142 2023 224 2876 3383 3419 3420 3956 3958 4907 5130 5290 5291 5293 5294 55624 653509 7357 762 79623 79661 79947 80201 81031 847	Homo sapiens (human)
DOID:7757	childhood leukemia	ABO ACE ACHE AKR1C3 AKR1C4 ALOX5 ALPI ALPP ANXA7 APRT ARSH B3GAT1 B4GALT1 BPHL BST2 CALR CD14 CD1D CD22 CD33 CD38 CD44 CD48 CH25H CHI3L1 CLEC12A CNTN2 CSPG4 CYP1A1 CYP1B1 CYP2B6 CYP2E1 CYP3A5 DAG1 DGKA DLD EBP ENO2 ENOSF1 EXT1 FCER2 FCGR3B FMOD FUT1 FUT3 FUT4 G6PD GLB1 GPI GPX3 HK1 HK2 HMMR HPGDS HPRT1 HSD11B2 ICAM1 IDH1 IDH2 IL18R1 IL1R1 IL1RL1 INPP4B INPP5D KLRK1 LDHA LGALS1 LGALS3 LYZ MACROD1 MICA MRC1 MSLN NAMPT NCAM1 NT5E PAFAH1B1 PARG PARP1 PARP4 PGD PGP PI4K2B PIK3CA PIK3CB PIK3CD PIK3CG PIP4K2A PKM PLA2R1 POGLUT1 PRKAA2 PTEN PTGS1 PTGS2 RPN1 RTN4R SELE SELL SHMT1 SIGLEC10 SIGLEC1 SIRT6 SLC39A8 SMPD2 SOAT1 ST8SIA4 TALDO1 TIGAR TNFRSF10C UGCG ULBP2 UMOD UNG VCAM1 VTCN1	100507436 10135 10232 10682 1109 1116 142 143 1464 1543 1545 1555 1571 1577 160364 1605 1606 1636 1738 2026 2131 2208 2215 22914 22925 2331 240 248 250 2523 2525 2526 2539 2683 27087 2720 27306 28 2821 283871 2878 28992 3098 3099 310 3161 3251 3291 3383 3417 3418 347527 353 3554 3635 3939 3956 3958 4069 43 4360 4684 4907 5048 51548 5226 5290 5291 5293 5294 5305 5315 55300 55556 5563 56983 57103 5728 5742 5743 6184 6401 6402 64116 6470 65078 6610 6614 6646 670 684 6888 6900 7357 7369 7374 7412 7903 79679 80328 811 8505 8644 8794 8809 8821 89790 9023 912 9173 929 933 945 952 960 962	Homo sapiens (human)
DOID:7532	squamous papillomatosis	ALDH3A2 PLA2G4A PTEN PTGES PTGS2	224 5321 5728 5743 9536	Homo sapiens (human)
DOID:445	Bartter disease Aliases: Aldosteronism with hyperplasia of the adrenal cortex Bartter's syndrome	ATP6AP2 CD44 CHST3 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP21A2 CYP4F3 G6PD HSD11B2 HSD3B1 HSD3B2 LGALS3 OCRL PRSS8 PTGS2 SLC26A2 SLC33A1 SLC5A1	10159 1583 1584 1585 1586 1589 1836 2539 3283 3284 3291 3958 4051 4952 5652 5743 6523 9197 9469 960	Homo sapiens (human)
DOID:0110281	autosomal recessive limb-girdle muscular dystrophy type 2G Aliases: LGMD2G limb-girdle muscular dystrophy due to telethonin deficiency muscular dystrophy, limb-girdle, type 2G	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)

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