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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 **4351 - 4375** of **4621** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:10591	pre-eclampsia Aliases: gestational hypertension hypertension induced by pregnancy pre-eclamptic toxaemia preeclampsia preeclampsia/eclampsia pregnancy associated hypertension pregnancy toxemia proteinuric hypertension of pregnancy toxaemia of pregnancy	ACE ACOT7 AKR1C3 ANXA5 ATP6AP2 CALR CHI3L1 COMT CYP11B1 CYP11B2 CYP19A1 CYP21A2 CYP24A1 CYP27B1 CYP2J2 CYP2R1 CYP3A5 EFNA1 ENPP1 GAPDH GPI GPX1 GPX3 HADHA HPGDS HSD11B1 HSD11B2 HSD3B1 HSD3B2 HSPG2 ICAM1 IL18R1 ISYNA1 LEP LEPR LGALS1 LIPC LPL MBL2 OGG1 OLR1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G2A PLA2G6 PLAUR PLB1 PTGDS PTGS1 PTGS2 PYGM RBP4 RENBP SDC1 SELL SIRT4 SLC17A5 SLC2A1 TLR4 TNF VCAM1	10159 1116 11332 120227 1312 151056 1573 1577 1584 1585 1588 1589 1591 1594 1636 1942 23409 2597 26503 27306 2821 2876 2878 3030 308 3283 3284 3290 3291 3339 3383 3952 3953 3956 3990 4023 4153 4968 4973 51477 5167 5290 5291 5293 5294 5320 5329 5730 5742 5743 5837 5950 5973 6382 6402 6513 7099 7124 7412 811 8398 8644 8809	Homo sapiens (human)
DOID:0050816	urofacial syndrome Aliases: Ochoa syndrome hydronephrosis with peculiar facial expression	HPSE2 HPSE	10855 60495	Homo sapiens (human)
DOID:10582	Refsum disease Aliases: HMSN type IV HSMN IV Heredopathia atactica polyneuritiformis Refsum's disease adult Refsum disease classic Refsum disease phytanic acid oxidase deficiency	CAT GPD1 HSD17B4 SCP2	2819 3295 6342 847	Homo sapiens (human)
DOID:8515	Cor pulmonale Aliases: cardiopulmonary disease pulmonary heart disease	TNF	7124	Homo sapiens (human)
DOID:0090089	hypogonadotropic hypogonadism 10 with or without anosmia	ACSM3 ADH5 CD44 CD55 CYP17A1 CYP19A1 GAS1 GK GPC1 HJV HS6ST1 HSD17B3 L1CAM MMUT NT5E PMM2 PNPLA6 SEMA7A SMPD3 SOAT1 STS TYMP	10908 128 148738 1586 1588 1604 1890 2619 2710 2817 3293 3897 412 4594 4907 5373 55512 6296 6646 8482 9394 960	Homo sapiens (human)
DOID:0070460	hereditary spastic paraplegia 90B Aliases: SPG90B autosomal recessive spastic paraplegia 90B	SPTSSA	171546	Homo sapiens (human)
DOID:0110252	cataract 37 Aliases: CTRCT37	AGK ALDH7A1 CRYL1 CYP27A1 GALK1 GCNT2 GPC5 INPP5K LSS OCRL PTEN SLC33A1 SORD	1593 2262 2584 2651 4047 4952 501 51084 51763 55750 5728 6652 9197	Homo sapiens (human)
DOID:10629	microphthalmia Aliases: microphthalmos simple microphthalmos	ABO ACE ACYP2 AKR1B10 ALDH1A3 ALDH6A1 ALDH7A1 APRT ARSA ARSD ARSH B3GALNT2 B4GAT1 C1GALT1 C1GALT1C1 CALR CD177 CD38 CD44 CEACAM5 CEACAM7 CEL CEMIP CERK CHKA CHST15 COMT CRPPA CYP1B1 CYP3A5 DAG1 DPEP1 DSEL EBP ENO1 EOGT FASN FBP1 FCGR3B FCN2 FDPS FH FKRP FKTN FREM1 FUT3 FUT4 GAD1 GALNT3 GAPDH GLUL GMPPB GOLPH3 GP2 GPC1 GPC5 GPI GPNMB GPX1 HAS2 HK1 HK2 HMMR HYAL2 IDH1 INPP5D KL L1CAM LARGE1 LDHB LGALS1 LGALS3 LGALS4 LPCAT2 LRP5 MCAT MDH1 ME2 MLYCD MMUT MRC1 MSLN NDST1 NEU1 NT5E OCRL OGA OGT PAFAH1B2 PARG PARP1 PDHX PGAM1 PGD PGK1 PIGN PIK3CA PIK3CB PIK3CD PIK3CG PKM PLAUR PLCD1 PLCD3 PLD1 PNPLA2 POMGNT1 POMGNT2 POMK POMT1 POMT2 PRNP PTEN PTGS2 REG1B REG3G RXYLT1 SDC1 SDC2 SIGLEC7 SIRT6 SLC17A5 SLC35F6 SMUG1 SOAT1 SQLE SRD5A3 ST6GAL1 VCAM1 VCAN VTCN1 XYLT2	10232 10329 10457 1048 1056 10585 10682 10724 1087 11041 1119 113026 130120 1312 142 1462 148789 1545 1577 158326 1605 1636 1800 2023 2194 220 2203 2215 2218 2220 2224 2262 2271 23417 23556 23583 2525 2526 2571 2591 2597 26503 27036 27349 2752 28 2813 2817 2821 285203 2876 29071 29925 29954 3037 3098 3099 3161 3340 3417 347527 353 3635 3897 3945 3956 3958 3960 4041 410 414 4190 4200 4329 4360 4594 4758 4907 4952 501 5049 51363 51548 5223 5226 5230 5290 5291 5293 5294 5315 5329 5333 5337 54947 54978 55624 5621 56913 57016 57104 57126 57214 5728 5743 5968 6382 6383 64083 64132 64781 6480 6646 6713 729920 7412 79147 79644 79679 8050 811 84197 8473 84892 8505 8692 92126 9215 9365 952 960 98	Homo sapiens (human)
DOID:13137	Werdnig-Hoffmann disease Aliases: HMN (Hereditary motor Neuropathy) Proximal type I SMA1 Spinal muscular atrophy 1 hereditary motor neuropathy proximal type I infantile muscular atrophy progressive muscular atrophy of infancy	APRT HEXA HSPG2	3073 3339 353	Homo sapiens (human)
DOID:0080797	nasal type extranodal NK/T-cell lymphoma	GPX3	2878	Homo sapiens (human)
DOID:0111051	platelet-type bleeding disorder 18 Aliases: BDPLT18 bleeding disorder due to CalDAG-GEFI deficiency bleeding disorder due to calcium- and DAG-regulated guanine exchange factor-1 deficiency	DLD GOLPH3 HPSE2 HPSE LGALS1 LGALS8 NAAA NAGLU PLA2G1B PLA2G2A PLA2G6 SELP VCAM1	10855 1738 27163 3956 3964 4669 5319 5320 60495 6403 64083 7412 8398	Homo sapiens (human)
DOID:0080332	bicuspid aortic valve disease Aliases: Familial bicuspid aortic valve	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:146	papilledema	CD38 ENO2 IDS SHMT1	2026 3423 6470 952	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: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:0111056	platelet-type bleeding disorder 3 Aliases: BDPLT3 PT-VWD platelet type-von Willebrand disease pseudo-von Willebrand disease von Willebrand disease platelet-type	ABO ATP6V0A2 CANX GPI PDIA3	23545 28 2821 2923 821	Homo sapiens (human)
DOID:0060427	chromosome Xp21 deletion syndrome Aliases: Xp21 microdeletion syndrome complex glycerol kinase deficiency monosomy Xp21	GK IL1RAPL1	11141 2710	Homo sapiens (human)
DOID:0060585	Noonan syndrome 7 Aliases: NS7	ACADS AMT ARSA ARSD B4GALT7 BAAT BRAF CAT CHPT1 CYP11A1 DAG1 DCN DHDDS 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 2348 2597 2653 2720 2731 275 2821 3339 35 410 412 414 4968 5224 5290 5291 5293 5294 5621 56994 570 5728 64132 673 79623 79947 847 8658 8879 9126 9365	Homo sapiens (human)
DOID:2339	Crouzon syndrome Aliases: Craniofacial Dysostosis	GPC3 TKTL1	2719 8277	Homo sapiens (human)
DOID:10914	amnestic disorder Aliases: Amnestic syndrome Korsakoff's psychosis or syndrome amnesia	ABAT ACE ACHE ACSF3 ADH1B AKR1A1 ALDH2 ALOX5 ARSA ARSD CAT CD38 CD44 CD74 CHAT CHI3L1 COMT CPT1A CYP1A2 CYP1B1 DLST ELOVL3 ELOVL6 FKRP FUT10 GAD1 GAD2 GLUL GNE GPX1 HGSNAT HSD11B1 HSD11B2 IDS INPPL1 IRS2 KL LGALS3 LGALS4 MYORG NAGLU NAMPT NEU3 NT5E OGA PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G4A PLA2G6 PLD1 PLD2 PPT1 PRKAA2 PRNP PSAP PTEN PTGS1 PTGS2 SDHD SFTPA1 SLC17A5 SLC2A4 SMPD1 SMUG1 SPHK2 ST3GAL4 STS SUCLA2 SYNJ1 TKT UGT1A1	10020 10135 10327 10724 10825 1103 1116 125 1312 1374 138050 142 1544 1545 1636 1743 18 197322 217 23583 240 2571 2572 26503 2752 2876 3290 3291 3423 3636 3958 3960 410 412 414 43 4669 4907 5290 5291 5293 5294 5315 5321 5337 5338 54658 5538 5563 5621 5660 56848 5728 5742 5743 57462 6392 6484 6517 653509 6609 7086 79071 79147 83401 8398 847 84750 8660 8803 8867 9365 952 960 972	Homo sapiens (human)
DOID:1240	leukemia	A4GALT ABO ACACA ACE ACHE ACSL6 AKR1C3 AKR1C4 ALPI ALPP ANXA7 APRT ARSH B3GAT1 B4GALT1 BPHL BST2 CALR CBR1 CD14 CD1D CD22 CD33 CD38 CD44 CD48 CDH13 CH25H CLEC12A CNTN2 CSPG4 CYP1A1 CYP1B1 CYP24A1 CYP2B6 CYP3A5 DAG1 DGKA DLAT DLD EBP ENO2 ENOSF1 EXT1 FASN FCER2 FCGR3B FMOD FUT1 FUT3 FUT4 G6PD GGT1 GLB1 GPI GPX1 GPX3 HK1 HK2 HMMR HPGDS HPRT1 HPSE HSD11B2 ICAM1 IDH1 IDH2 IL18R1 IL1R1 IL1RL1 INPP4B INPP5D KLRC1 KLRK1 LDHA LGALS1 LGALS3 LYZ MACROD1 MBL2 ME2 MICA MRC1 NAMPT NCAM1 NYX OGG1 PAFAH1B1 PARG PARP1 PARP4 PGD PGP PI4K2B PIK3CA PIK3CB PIK3CD PIK3CG PIP4K2A PKM PLA2G1B PLA2R1 PLB1 PLCG1 PLCG2 POGLUT1 PRKAA2 PTEN PTGS1 PTGS2 RPN1 RTN4R SDC1 SELE SELL SHMT1 SIGLEC10 SIGLEC1 SIGLEC7 SIRT2 SIRT6 SLC35G1 SLC39A8 SMPD2 SMPD3 SOAT1 ST8SIA4 TALDO1 TIGAR TNFRSF10C TP53 UGCG UMOD UNG VCAM1 VTCN1	100507436 1012 10135 10682 10855 1109 142 143 1464 151056 1543 1545 1555 1577 1591 159371 160364 1605 1606 1636 1737 1738 2026 2131 2194 2208 2215 22914 22925 22933 23305 2331 248 250 2523 2525 2526 2539 2678 2683 27036 27087 2720 27306 28 2821 283871 2876 2878 28992 3098 3099 31 310 3161 3251 3291 3383 3417 3418 347527 353 3554 3635 3821 3939 3956 3958 4069 4153 4200 43 4360 4684 4968 5048 51548 5226 5290 5291 5293 5294 5305 5315 5319 5335 5336 53947 55300 55512 55556 5563 56983 57103 5728 5742 5743 60506 6184 6382 6401 6402 64116 6470 65078 6610 6614 6646 670 684 6888 6900 7157 7357 7369 7374 7412 7903 79679 811 8505 8644 873 8794 8809 8821 89790 9023 912 9173 929 933 945 952 960 962	Homo sapiens (human)
DOID:7212	meningothelial meningioma Aliases: Meningotheliomatous 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:0110273	autosomal dominant 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:2786	cerebellar disease	ACER3 ACHE ARSA ARSG CACNA2D2 CAT CLN5 CYP7B1 DLD ELOVL4 ELOVL5 ENO2 GAA GAD1 GAD2 GALC GALT GBA2 GLB1 HSD17B4 MAG OGG1 PARP1 PCYT1A PDHA1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G6 PMM2 PNPLA6 PPT2 PRNP SRD5A3	10908 1203 142 1738 2026 22901 2548 2571 2572 2581 2592 2720 3295 4099 410 43 4968 5130 5160 5290 5291 5293 5294 5373 55331 5621 57704 60481 6785 79644 8398 847 9254 9374 9420	Homo sapiens (human)
DOID:0110062	amelogenesis imperfecta hypomaturation type 2A4 Aliases: AI2A4 amelogenesis imperfecta hypomaturation type IIA4 amelogenesis imperfecta type IIA4	AKR1C1 AKR1C2 MMP25 TMEM165	1645 1646 55858 64386	Homo sapiens (human)

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