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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 **1926 - 1950** of **4621** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼
DOID:8398	osteoarthritis Aliases: Osteoarthrosis and allied disorder degenerative arthritis degenerative joint disease hypertrophic arthritis osteoarthrosis	ABAT ABO ACAA2 ACAN ACE ACLY ACO1 ACSL4 ACSL6 AKR1C1 AKR1C2 ALDOA ALOX15 ALOX5 ALPL ANXA5 APRT ARSA B3GAT1 B4GALNT3 B4GALT7 BAD BST2 CALR CAT CD14 CD38 CD44 CEMIP CH25H CHAT CHGA CHI3L1 CHI3L2 CHIT1 CHST11 CHST13 CHST4 CLC CLEC3A CLEC5A CLEC7A COG5 COL9A2 COLGALT2 COMT CSPG4 CYP19A1 CYP1B1 CYP7B1 DCN DPEP1 ENO1 ENPP1 ERRFI1 EXT1 EXT2 FASN FCGR3B FH FMOD FUT1 FUT2 FUT4 GAL3ST1 GALNT3 GANAB GAPDH GBA1 GCK GGT1 GLA GLB1 GLO1 GLT8D1 GMDS GPC3 GPD1L GPI GPNMB GPX1 HADHA HAS1 HIBCH HK1 HK2 HMMR HPGDS HPRT1 HPSE HS6ST2 HSD11B1 HSPG2 HYAL1 HYAL2 ICAM1 IDH2 IDH3A IGF2 IL18R1 IL1R1 IL1RL2 INPP5D INS ISYNA1 KL KLRB1 LAYN LCTL LEP LGALS1 LGALS3 LGALS8 LGALS9 MMP25 MRC1 MUTYH NAAA NAMPT NCAM1 NT5E OCRL OLR1 OPCML PAPSS2 PARP1 PCYT1A PDHA1 PDIA3 PFKFB3 PGAM1 PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G1B PLA2G4A PLA2G4F PLAUR PLB1 PLCD1 PLCG1 PNPLA3 PRKAA2 PRNP PTEN PTGDS PTGES PTGS1 PTGS2 RECK RENBP SCD5 SDC1 SDC4 SDHA SELE SFTPD SGSH SHMT2 SIGLEC7 SIRT2 SIRT6 SLC17A5 SLC26A2 SLC35A1 SLC39A8 SMUG1 SOAT1 SPHK1 SPHK2 SRGN STS SULF1 SULF2 TKTL1 TM7SF2 TNFRSF10C TNKS TPI1 UST VCAM1 XYLT1	10090 10135 10143 10164 10449 10457 10466 10559 10855 1103 1113 1116 1117 1118 11285 1178 1298 1312 142 143903 1464 151056 1545 1588 1634 1636 1645 1646 166012 176 18 1800 1836 197021 2023 2131 2132 2182 2194 2215 226 2271 22933 23127 23171 23193 23213 23305 2331 23583 23601 240 246 249 2523 2524 2526 255189 2591 2597 26275 2629 2645 26503 2678 27036 27087 27163 2717 2719 2720 27306 2739 2762 28 2821 283358 2876 2923 3030 3036 308 3098 3099 3161 3251 3290 3339 3373 3383 3418 3419 3481 353 3554 3630 3635 3820 3952 3956 3958 3964 3965 410 412 4360 4595 4684 47 48 4907 4952 4973 4978 50515 5130 51477 51548 5160 5167 5209 5223 5290 5291 5293 5294 5315 5319 5321 5329 5333 5335 54206 5552 5563 55830 55959 5621 56848 572 57214 5728 5730 5742 5743 5973 6382 6385 6389 6401 64116 64131 64386 6441 6448 64581 6472 6646 684 7108 7167 7412 79966 80339 811 8277 8434 847 8658 8692 8794 8808 8809 8877 90161 9023 9060 929 9365 9420 9514 952 9536 960	Homo sapiens (human)
DOID:0070162	hereditary sensory and autonomic neuropathy type 1 Aliases: HSAN1 hereditary sensory and autonomic neuropathy type I	AGXT CYP4F3 FIG4 GAS1 SPTLC1 SPTLC2 SPTLC3	10558 189 2619 4051 55304 9517 9896	Homo sapiens (human)
DOID:0110165	Charcot-Marie-Tooth disease type 2E Aliases: CMT2E Charcot-Marie-Tooth neuropathy type 2E autosomal dominant Charcot-Marie-Tooth disease type 2E	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:14451	hyperkalemic periodic paralysis Aliases: familial hyperkalemic periodic paralysis	PRKAA2	5563	Homo sapiens (human)
DOID:0060764	autosomal recessive Robinow syndrome Aliases: COVESDEM syndrome RRS costovertebral segmentation defect-mesomelia syndrome	ACADS AMT ARSA ARSD B4GALT7 BAAT 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 79623 79947 847 8658 8879 9126 9365	Homo sapiens (human)
DOID:1701	steroid inherited metabolic disorder	HSD17B7	51478	Homo sapiens (human)
DOID:374	nutrition disease Aliases: Nutritional disorder	ACAT1 ACE ACLY ACOT7 ACSBG1 AKR1A1 ALDH2 ALDOB AMACR AMY1A AMY1B AMY1C BST2 CALR CAT CD14 CD55 CEL CYP2C9 CYP2E1 CYP7A1 CYP7B1 DGAT1 FADS1 FADS2 FCGR3B FH G6PC1 GAD2 GALT GLB1 GPX3 HJV HPGDS HPSE2 HSD3B1 ICAM1 KL LCT LDHA LGALS3 LIPA OGA PC PCK2 PIK3CA PIK3CB PIK3CD PIK3CG PLD2 PRPS1 REG1B SDHB SELP SI SLC2A4 SLC37A4 SLC39A8 SLC5A1 SMC3 SMPD1 SMUG1 SORD SPHK1 TPI1 TYMP VCAM1	10327 1056 10724 11332 148738 1559 1571 1581 1604 1636 1890 217 2215 2271 229 23205 23583 23600 2538 2542 2572 2592 2720 27306 276 277 278 2878 3283 3383 38 3938 3939 3958 3988 3992 47 5091 5106 5290 5291 5293 5294 5338 5631 5968 60495 6390 6403 64116 6476 6517 6523 6609 6652 684 7167 7412 811 847 8694 8877 9126 929 9365 9415 9420	Homo sapiens (human)
DOID:14224	tracheal calcification Aliases: Calcification of trachea	EBP	10682	Homo sapiens (human)
DOID:341	peripheral vascular disease Aliases: arterial occlusive disease	ABO ACE AGXT ALDH7A1 CALR CD14 CHI3L1 CYP1A1 CYP1A2 CYP2C19 DLD EFNA5 ENPP1 GPX1 ICAM1 IGF2R LIPC MBL2 NT5E PCYT1A SELL SLC2A10 SRD5A1 STS VCAM1	1116 1543 1544 1557 1636 1738 189 1946 28 2876 3383 3482 3990 412 4153 4907 501 5130 5167 6402 6715 7412 81031 811 929	Homo sapiens (human)
DOID:0110197	Charcot-Marie-Tooth disease dominant intermediate B Aliases: CMTDI1 CMTDIB Charcot-Marie-Tooth neuropathy dominant intermediate B DI-CMTB	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:13482	Proteus syndrome Aliases: Wiedemann's syndrome	AKT1 GPC3 PIK3CA PIK3CB PIK3CD PIK3CG PTEN SELE SELP	207 2719 5290 5291 5293 5294 5728 6401 6403	Homo sapiens (human)
DOID:1787	pericarditis	CAT LACC1 NT5E PMM2 SMUG1	144811 23583 4907 5373 847	Homo sapiens (human)
DOID:3650	lactic acidosis	ACADM ACADVL ACAT1 AGK AGXT ALDH6A1 ALDH7A1 ALDOB AMT BCKDHA BCKDHB CHAT CYP11A1 CYP11B2 CYP27B1 DBT DLAT DLD ECHS1 FBP1 FH G6PC1 GALT GCDH GLYCTK HADH HADHA HADHB HIBCH HMGCL HSD3B2 ICAM1 LCT MCEE MLYCD OGDH PC PCCA PCCB PCK1 PDHA1 PDHB PDHX PTGS1 PYGL SDHA SLC2A2 SLC37A4 SLC3A1 SLC5A1 SUCLA2 SUCLG1	1103 132158 1583 1585 1594 1629 1737 1738 189 1892 2203 2271 229 23417 2538 2542 2592 26275 2639 275 3030 3032 3033 3155 3284 3383 34 37 38 3938 4329 4967 501 5091 5095 5096 5105 5160 5162 55750 5742 5836 593 594 6389 6514 6519 6523 8050 84693 8802 8803	Homo sapiens (human)
DOID:3413	alpha-mannosidosis Aliases: Alpha-D-mannosidosis alpha-mannosidase deficiency deficiency of alpha-mannosidase	MAN2B1 MAN2C1	4123 4125	Homo sapiens (human)
DOID:0080665	warfarin resistance	CYP2C9	1559	Homo sapiens (human)
DOID:0080041	hypochondroplasia	ACAN CYP2C19 DCN GALNT2	1557 1634 176 2590	Homo sapiens (human)
DOID:9088	parapsoriasis	ACACA ACE ACO1 ACOT8 ADH1B AKR1B10 AKR1C1 AKR1C3 ALDH2 ALOX12 ALOX15 ALOX15B APRT B3GNT2 B3GNTL1 BST2 CAT CD14 CD1D CD38 CD93 CDH13 CHI3L1 CHST8 CLC CLEC16A CLEC7A CNTN3 COG6 COMT CS CYP1A1 CYP24A1 CYP27A1 CYP27B1 CYP2B6 CYP2C19 CYP2E1 CYP3A4 DAG1 DLAT ELOVL6 FAM20B FCGR3B FCN2 FUT2 GAL3ST2 GAPDH GPX1 HPGDS HPSE ICAM1 ICAM5 IL18R1 IL1R1 IL1RAP IL1RL2 IPMK ISYNA1 ITLN1 KLRC1 LGALS1 LGALS3 LYNX1 LYZ MASP2 MBL2 MGAT5 MICA MRC1 MSMO1 NAGLU NANS NCAM1 NT5E OLR1 PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PLA2G10 PLA2G1B PLA2G2A PLA2G7 PLB1 PLCD1 PSAP PTEN PTGS1 QTRT1 RENBP SDC1 SELE SELP SFTPD SLC17A5 SMUG1 SOAT1 SPHK1 SPHK2 SPTLC2 ST6GAL1 STS SULF2 UGT8 VCAM1 VNN1 VNN2 YDJC	10005 100507436 1012 10678 10747 10855 1116 1178 125 1312 142 1431 146712 150223 151056 1543 1555 1557 1571 1576 1591 1593 1594 1605 1636 1645 1737 217 2215 2220 22918 23274 23583 239 246 247 2524 253430 2597 26503 27306 2876 31 3383 353 3554 3556 3821 3956 3958 4069 412 4153 4249 4360 4669 4684 48 4907 4973 5067 51477 5290 5291 5293 5294 5310 5319 5320 5333 54187 55600 55959 5660 56848 57016 5728 5742 57511 5973 6307 6382 6401 6403 64090 64377 6441 64581 6480 66004 6646 684 7087 7368 7412 79071 7941 81890 8399 847 8644 8808 8809 8875 8876 8877 912 929 9517 952 9917	Homo sapiens (human)
DOID:0060074	ductal carcinoma in situ	AKR1C3 PTGES PTGS2 TFF1 TP53 TYMP	1890 5743 7031 7157 8644 9536	Homo sapiens (human)
DOID:0070174	spermatogenic failure 17 Aliases: Male infertility due to oocyte activation failure SPGF17	PLCZ1	89869	Homo sapiens (human)
DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma Aliases: B-cell lymphocytic leukemia/small lymphocytic lymphoma CLL/SLL	FCER2 SLC35B2	2208 347734	Homo sapiens (human)
DOID:0111035	CADASIL 1 Aliases: autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 1	CTSA DCN	1634 5476	Homo sapiens (human)
DOID:0050902	medulloblastoma Aliases: CNS PNET CPNET Medulloblastoma, histologically defined brain medulloblastoma infratentorial primitive neuroectodermal tumor localized primitive neuroectodermal tumor	ABO ACHE ALOX5 AMACR APRT ASAH1 CALR CANX CD1D CD38 CHGA CHPT1 COL9A2 CYP1A1 CYP1B1 CYP2B6 CYP3A5 DAG1 DHDDS EFNA5 ENO2 FOLR1 FUT4 GPC3 GYS2 HK2 HMMR HPGDS HPSE IDH1 IDH2 IDUA INPP5E LDHA LDHB MELTF MMUT MRC1 NT5E PAFAH1B1 PARP1 PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PKM POMGNT1 PTEN PTGDS PTGS2 SDC1 SIGLEC7 SULT1E1 TDG TNKS TP53 TREH UGCG VCAN	10855 1113 11181 1298 142 1462 1543 1545 1555 1577 1605 1946 2026 2348 23600 240 2526 27036 2719 27306 28 2998 3099 3161 3417 3418 3425 353 3939 3945 4241 427 43 4360 4594 4907 5048 5130 5290 5291 5293 5294 5315 55624 56623 56994 5728 5730 5743 6382 6783 6996 7157 7357 79947 811 821 8658 912 952	Homo sapiens (human)
DOID:4235	spindle cell sarcoma	ACAN ACSL4 ACSS2 ANXA5 ARSF B3GAT1 CD109 CD14 CD1D CD248 CD44 CEL CHSY1 CMAS COL9A2 CSPG4 DCN DHCR24 ENPP2 EXTL3 FBP2 FCGR3B GLUL GPC3 GPC5 HK2 HPRT1 HPSE IDH1 IDH2 ISYNA1 KLRK1 LGALS1 LSS MRC1 MTAP NANS NCAM1 OGA OS9 PARP1 PARP9 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G15 PLAUR PLD2 PTEN PTGS2 SDHA SDHB SDHC SELP SIRT2 SLC27A5 SMUG1 STS TM7SF2 UGT1A1	1056 10724 10855 10956 10998 1298 135228 142 1464 1634 1718 176 2137 2182 2215 2262 22856 22914 22933 23583 23659 27087 2719 2752 308 3099 3251 3417 3418 3956 4047 412 416 4360 4507 4684 51477 5168 5290 5291 5293 5294 5329 5338 54187 54658 55902 55907 57124 5728 5743 6389 6390 6391 6403 7108 83666 8789 912 929 960	Homo sapiens (human)
DOID:5520	head and neck squamous cell carcinoma Aliases: carcinoma of the head and neck squamous cell carcinoma of the head and neck squamous cell carcinomas of head and neck	ACACA ACACB ACHE ACOT7 ADH1B ADH1C ADH7 AKR1A1 AKR1C1 ALDH2 ALDH3A1 ALG3 ALOX15B ALOX5 ANXA5 APRT ASAH1 BST2 C1GALT1 CALR CANX CAT CBR1 CD33 CD44 CDH13 CEACAM6 CERS1 CERS6 CMAS COMT CSPG4 CYP1A1 CYP1A2 CYP1B1 CYP2B6 CYP2C19 CYP2C9 CYP2E1 CYP2J2 CYP2R1 DHCR24 DLAT ENO1 EXT1 EXTL3 FCGR3B FOLR2 FUT1 FUT4 GALC GALNS GGT1 GLB1 GPAA1 GPD1L GPI GPNMB GPX1 GPX3 GUSB HK2 HPGDS HPSE2 HPSE HSD17B12 HYAL1 IDH2 IDUA IGF2R IL18R1 IL1RAP ISYNA1 JMJD7-PLA2G4B KL LDHA LGALS1 LGALS3 LGALS9 LY6K ME1 MICA MMP17 MRC1 MUTYH NAMPT NANS NCAM1 NEIL1 NEU1 NSDHL NT5E NTNG1 OGG1 PARP1 PDHA1 PFKFB3 PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G4B PLAUR PLCE1 PNP PRKAA2 PRNP PSMD10 PTEN PTGES PTGIS PTGS1 PTGS2 PYGM REG3G SCD SDC1 SELL SELP SHMT1 SHMT2 SIGLEC1 SIRT4 SIRT6 SLC17A5 SLC2A3 SLC2A4 SMPD1 SMUG1 SOAT1 SPTLC3 SULF1 SULT1E1 TALDO1 THEM4 TKTL1 TPI1 TYMP UGCG UGT1A1 UGT1A6 UGT1A7 UGT2B17 ULBP1	100137049 100507436 1012 10135 10195 10327 10457 10715 10855 11332 117145 120227 125 126 130120 131 1312 142 1464 1543 1544 1545 1555 1557 1559 1571 1573 1645 1718 1737 1890 2023 2131 2137 217 218 2215 22854 23171 23213 23409 2350 23583 240 247 2523 2526 253782 2581 2588 26503 2678 2720 27306 2821 2876 2878 2990 308 3099 31 32 3373 3418 3425 3482 353 3556 3939 3956 3958 3965 4199 427 43 4326 4360 4595 4680 4684 4758 4860 4907 4968 50814 51144 51196 51477 51548 5160 5209 5290 5291 5293 5294 5315 5329 54187 54577 54578 54658 54742 55304 5563 55907 5621 56913 5716 5728 5740 5742 5743 5837 60495 6319 6382 6402 6403 6470 6472 6515 6517 6609 6614 6646 6783 684 6888 7167 7357 7367 79661 80329 811 821 8277 847 8681 873 8733 8809 9365 945 9536 960	Homo sapiens (human)
DOID:3329	benign epilepsy with centrotemporal spikes Aliases: BCECTS benign Rolandic epilepsy benign childhood epilepsy with centrotemporal spike rolandic epilepsy sylvan seizures	ARSA ASAH1 EPM2A MDGA2 PLCB1	161357 23236 410 427 7957	Homo sapiens (human)

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