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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 **1101 - 1125** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism
DOID:0080899	lung pleomorphic carcinoma	Slc3a2	17254	Mus musculus (house mouse)
DOID:14021	Tietze's syndrome Aliases: Costalchondritis Costochondral junction syndrome Costochondritis Slipping rib syndrome Tietze's disease	SMUG1	23583	Homo sapiens (human)
DOID:13481	thanatophoric dysplasia	trol	45320	Drosophila melanogaster (fruit fly)
DOID:5812	MHC class II deficiency Aliases: BLSII SCID due to absent class II HLA antigens bare lymphocyte syndrome type II	AMACR CD38 CEACAM5 CEACAM7 CYP2J2 EXTL3 FUT1 GPC5 HPSE IL18R1 LDHC LGALS1 MELTF NCAM1 NT5E PARP1 PDHX PGM3 PIK3CA PIK3CB PIK3CD PIK3CG PNP PTEN PTGS2 SOAT1 SRGN	1048 10855 1087 142 1573 2137 2262 23600 2523 3948 3956 4241 4684 4860 4907 5238 5290 5291 5293 5294 5552 5728 5743 6646 8050 8809 952	Homo sapiens (human)
DOID:2556	relapsing polychondritis Aliases: Chondromalacia, systemic	SMUG1	23583	Homo sapiens (human)
DOID:854	collagen disease Aliases: collagen disorder	Tl	43222	Drosophila melanogaster (fruit fly)
DOID:9744	type 1 diabetes mellitus Aliases: IDDM insulin-dependent diabetes mellitus type I diabetes mellitus	ins.L ins.S xylt1.L xylt1.S	108703114 378695 378696 444363	Xenopus laevis (African clawed frog)
DOID:11975	coloboma of optic nerve Aliases: Coloboma of optic disc Morning glory syndrome	INPP5E PMM2	5373 56623	Homo sapiens (human)
DOID:9675	pulmonary emphysema	fut8a fut8b	100331714 797512	Danio rerio (zebrafish)
DOID:0110794	hereditary spastic paraplegia 42 Aliases: SPG42 autosomal dominant spastic paraplegia 42 autosomal dominant spastic paraplegia type 42	B4GALNT1 CYP2B6 CYP2U1 CYP39A1 CYP7B1 FAR1 GBA2 L1CAM MAG PCYT2 PLA2G6 PNPLA6 SELENOI SLC33A1 ST3GAL5	10908 113612 1555 2583 3897 4099 51302 57704 5833 8398 84188 85465 8869 9197 9420	Homo sapiens (human)
DOID:10603	glucose intolerance Aliases: Glucose malabsorption Malabsorption of glucose	Coq2 Lep Lepr	16846 16847 71883	Mus musculus (house mouse)
DOID:0050558	Ullrich congenital muscular dystrophy Aliases: ULLRICH DISEASE Ullrich scleroatonic muscular dystrophy	Col6a1	12833	Mus musculus (house mouse)
DOID:2468	psychotic disorder Aliases: mental or behavioural disorder	ABO ACADS ACE ACHE ACOT7 ACSL4 ACSL6 ACSS2 ADH1B ALDH2 ALDH5A1 ALDH7A1 ALG9 ARSA ARSB ARSD B3GAT1 CACNA2D4 CALR CD22 CDH13 CHAT CHI3L1 CHPT1 CNTN4 COMT CYP27B1 CYP2B6 CYP2C19 CYP3A5 DEGS1 DEGS2 DGKH DHDDS EPM2A EXT1 G6PD GAD1 GAD2 GALNS GLUL HPGDS HSD11B1 HSD17B12 HSPG2 ICAM1 IDH1 IDUA INPP5K ISYNA1 LGALS3 MACROD2 MAG MANEA ME2 MGAT1 MICA NCAM1 NPL PAFAH1B1 PI4K2B PI4KA PIGL PIK3C2A PIP4K2A PLA2G15 PLA2G1B PLA2G4A PPT1 PRNP PTEN PTGDS PTGS2 RGMA RTN4R SDC2 SLC27A5 SMPD1 SMUG1 SPTLC1 SRGN ST3GAL1 ST8SIA2 TMTC1 VCAM1	100507436 1012 10558 10998 1103 1116 11332 123099 125 1312 140733 152330 1555 1557 1577 1594 160851 1636 2131 217 2182 23305 23583 23659 2539 2571 2572 2588 27087 27306 2752 28 3290 3339 3383 3417 3425 35 3958 4099 410 411 414 4200 4245 43 4684 501 5048 51144 51477 51763 5286 5297 5305 5319 5321 55300 5538 5552 55902 5621 56963 56994 5728 5730 5743 6383 6482 65078 6609 7412 7915 7957 79694 79796 79947 80896 811 8128 83857 8560 933 93589 9487	Homo sapiens (human)
DOID:0090044	dystonia 9	SLC2A1	6513	Homo sapiens (human)
DOID:0110016	Leber congenital amaurosis 2 Aliases: LCA2 amaurosis congenita of Leber II	RPE	6120	Homo sapiens (human)
DOID:5076	mixed glioma Aliases: mixed Neuroglial tumor mixed gliomas	ACAT1 ACE ACOD1 ACOT7 ACSBG1 ACSL1 ACSL3 ACSL4 ACSL5 ACSS2 ACYP2 AGK AGPS AKR1B1 ALDH1A3 AMACR ANXA5 ANXA7 APRT ART1 ATP6AP2 ATP6V0A2 ATRN B4GALT5 BCAN BDH1 CACNA2D3 CALR CAT CD109 CD44 CD48 CD74 CD93 CDH13 CEACAM5 CERS1 CHI3L1 CHKA CHPF CHPT1 CHSY3 CLC CLEC5A CNTFR CNTN1 CNTN2 COL9A2 CSPG4 CYP17A1 CYP19A1 CYP1A1 CYP1B1 CYP27B1 CYP2B6 CYP2C9 CYP2E1 CYP2J2 DAG1 DBT DCN DCTD DHCR24 DHDDS DPEP1 EBP EFNA1 ELOVL2 ENO1 ENOSF1 EXT1 FASN FBP1 FBXO17 FIG4 FMOD FUT4 G6PD GAD1 GAL3ST1 GALNT2 GALNT7 GAPDH GAS1 GLB1 GLDC GLO1 GLUL GOLPH3 GPC1 GPC5 GPD1 GPD2 GPI GPIHBP1 GPNMB GPX1 HAS2 HEXA HEXB HK1 HK2 HMMR HPGDS HPSE HSPG2 HYAL1 HYAL2 HYAL3 ICAM1 IDH1 IDH2 IL18R1 IMPA1 ISYNA1 ITPKA KHK KLRK1 L1CAM LAYN LDHA LGALS1 LGALS3 LGALS9 LPL LSS LYZ MAG MBD4 MBL2 ME1 MELTF MGAT1 MGAT5 MICA MMUT MPG MPI MRC1 MSLN MTAP MTMR3 MUTYH NAMPT NANS NT5E OPCML OXCT1 PARP1 PDIA3 PFKFB4 PGAM1 PGK1 PIK3C2B PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKD2 PKM PLA2G4C PLA2G5 PLAUR PLCB1 PLCG1 PLD1 PLD2 PLEKHA8 PLOD3 PNLIP PNPLA2 PRKAA2 PRNP PRSS8 PSAP PSMD10 PTEN PTGES PTGS1 PTGS2 QPRT RECK RTN4R SCD SDC1 SDC2 SDHC SDHD SEMA7A SGMS1 SGMS2 SHMT2 SIGLEC7 SIRT2 SIRT6 SLC2A3 SLC2A5 SLC35A1 SLC35A3 SLC37A4 SMPD1 SMUG1 SOAT1 SPHK1 SPHK2 SPTLC1 SRD5A1 SRGN ST6GAL1 ST6GALNAC5 ST8SIA1 STS SUCLG1 SULF2 THEM4 TIGAR TKT TKTL1 TM7SF2 TMED5 TNFRSF10C TPI1 TREH TUSC3 TYMP UGP2 UGT8 VCAM1 VCAN	100507436 1012 10135 10159 10232 10457 1048 10558 10559 10682 10715 10855 1116 11181 1119 11332 115290 117145 1178 1271 1272 1298 135228 142 143903 1462 1464 1543 1545 1555 1559 1571 1573 1586 1588 1594 1605 1629 1634 1635 1636 166929 1718 1800 1890 1942 2023 2131 2180 2181 2182 2194 220 2203 2262 22914 22918 22933 231 23205 23236 2331 23443 23475 23545 23583 23600 23601 2526 2539 2542 2571 2590 259230 2597 2619 27036 2720 27306 2731 2739 2752 2817 2819 2820 2821 2876 2923 3037 3073 3074 308 3098 3099 310 3161 3339 3373 337876 3383 338328 3417 3418 353 3612 3706 3795 38 3897 3939 3956 3958 3965 4023 4047 4069 4099 412 4153 417 4199 4241 4245 4249 4350 4351 4360 4507 4594 4595 4907 4978 5019 50999 51477 51548 51703 51809 5210 5223 5230 5287 5290 5291 5293 5294 5310 5311 5315 5322 5329 5335 5337 5338 5406 54187 54898 5552 55556 5563 55750 55799 55902 55959 5621 5652 5660 56848 56994 57103 57104 5716 5728 5742 5743 622 6319 6382 63827 6383 6391 6392 64083 6472 6480 6489 65078 6515 6518 6609 6646 6715 6900 7086 7108 7167 730249 7360 7368 7412 79586 7991 79947 811 81849 8277 8372 8434 8455 847 84725 8482 8540 8605 8692 8794 8802 8809 8877 8897 8930 8985 9334 9514 9536 960 962 972 98 9896	Homo sapiens (human)
DOID:14115	toxic shock syndrome Aliases: TSS toxic shock	Eno2 Tnf	24334 24835	Rattus norvegicus (Norway rat)
DOID:3492	mixed connective tissue disease Aliases: Connective tissue disease overlap syndrome mixed collagen vascular disease	NCAM1 SFTPD TNF	4684 6441 7124	Homo sapiens (human)
DOID:0110443	dilated cardiomyopathy 1B	ACADVL ACE BDH1 CHKB CNTN3 CPT2 DAG1 DOLK FASN FKRP FKTN GLB1 GPX1 HACD1 HADH HADHA HADHB HJV HMGCL HPRT1 LDHA LGALS3 LPL MDH1 MICA MTM1 NAMPT NCAM1 NDUFAB1 PCYT1A PGM1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G7 POMT2 RENBP SDHA SDHD SLC2A10 SLC2A4	100507436 10135 1120 1376 148738 1605 1636 2194 2218 22845 2720 2876 29954 3030 3032 3033 3155 3251 37 3939 3958 4023 4190 4534 4684 4706 5067 5130 5236 5290 5291 5293 5294 5973 622 6389 6392 6517 79147 7941 81031 9200	Homo sapiens (human)
DOID:0050778	Meckel syndrome Aliases: Meckel-Gruber syndrome	ACE ALDH1A3 ALG9 APRT ARF4 B3GLCT CALR COMT CPT2 CYP4A11 DHCR7 GANAB GLA GPC3 INPP5E PGD PIGN PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKD1L2 PKD1L3 PKD2 PLA2G4A PLCG1 PMM2 PRKCSH PTGDS PTGS1 PTGS2 SELE SMC3 XYLT2	114780 1312 1376 145173 1579 1636 1717 220 23193 23556 2717 2719 342372 353 378 5226 5290 5291 5293 5294 5310 5311 5321 5335 5373 5589 56623 5730 5742 5743 6401 64132 79796 811 9126	Homo sapiens (human)
DOID:5604	adult acute lymphocytic leukemia Aliases: adult ALL adult acute lymphoid Leukemia	ABO ACSS2 AKR1B1 AKR1C3 ALPI ALPP ANXA5 APRT B3GAT1 CAT CD22 CD33 CD38 CD44 CD48 CD55 CD72 CEL CERS6 CHI3L1 CNTFR CYP1A1 CYP2B6 CYP2E1 CYP3A4 CYP3A5 CYP4F3 ENO2 EXT1 FADS1 FH FUT4 G6PD GAD1 GGT1 HK1 HPGDS HPRT1 ICAM1 IDH1 IDH2 IL18R1 IL1RL1 LIPA LSS MBL2 MSLN MTAP NAAA NCAM1 NT5E PARP9 PIK3C2B PIK3CA PIK3CB PIK3CD PIK3CG PIP4K2A PLA2G15 PRKAA2 PRPS1 PTEN SELE SFTPD SHMT1 SLC27A5 SOAT1 SPHK2 UMOD UNG	10232 1056 10998 1116 1271 1543 1555 1571 1576 1577 1604 2026 2131 2271 231 23659 248 250 2526 253782 2539 2571 2678 27087 27163 27306 28 308 3098 3251 3383 3417 3418 353 3988 3992 4047 4051 4153 4507 4684 4907 5287 5290 5291 5293 5294 5305 5563 55902 5631 56848 5728 6401 6441 6470 6646 7369 7374 83666 847 8644 8809 9173 933 945 952 960 962 971	Homo sapiens (human)
DOID:0081326	oxoglutarate dehydrogenase deficiency Aliases: Oxoglutaric aciduria alpha-ketoglutarate dehydrogenase deficiency	ogdh.S	399021	Xenopus laevis (African clawed frog)
DOID:0050681	Borjeson-Forssman-Lehmann syndrome Aliases: BFLS BORJ Borjeson syndrome MRXSBFL intellectual deficiency-epilepsy-endocrine disorders syndrome mental retardation, epilepsy, and endocrine disorder syndromic X-linked mental retardation Borjeson-Forssman-Lehmann type	HPRT1	3251	Homo sapiens (human)
DOID:10892	hypospadias Aliases: familial hypospadias	ALG12 ARSD B3GLCT CD44 COG1 COMT CYP11A1 CYP17A1 CYP19A1 CYP1A1 CYP1B1 CYP21A2 CYP27B1 DGKK DHCR7 DHRS11 FIG4 HSD17B3 HSD17B7 HSD3B2 LFNG OGT PIGN PIK3CA PIK3CB PIK3CG PLA2G15 PTDSS1 SMC3 SRD5A1 SRD5A2	1312 139189 145173 1543 1545 1583 1586 1588 1589 1594 1717 23556 23659 3284 3293 3955 414 51478 5290 5291 5294 6715 6716 79087 79154 8473 9126 9382 960 9791 9896	Homo sapiens (human)
DOID:12365	malaria Aliases: induced malaria	PYK2 ZWF1	854529 855480	Saccharomyces cerevisiae S288C

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