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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 **2576 - 2600** of **4621** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:0110758	type 1 diabetes mellitus 21 Aliases: IDDM21 Insulin-Dependent Diabetes Mellitus 21	ABO ACAN ACE ACOT7 ACSL1 ADH5 AGA AGPAT1 AKR1A1 AKR1B1 ALDH2 ALDH3A2 ALOX12 ALOX15B ALOX5 AMY2A ANXA5 APRT B3GAT1 B4GALNT1 B4GALT1 BAAT CAT CBR1 CD14 CD1D CD209 CD38 CD44 CD48 CD74 CDH13 CEACAM5 CEPT1 CHAT CHST3 CLEC16A CSGALNACT1 CYP21A2 CYP24A1 CYP27A1 CYP27B1 CYP2E1 CYP2R1 CYP7A1 DCN DDOST DGCR2 DHCR7 DLAT EFNA1 ENO2 ENPP1 FASN FCER2 FCGR3B FCN2 FKRP FUT2 G6PC1 G6PC2 G6PD GAD1 GAD2 GAL3ST1 GALNT3 GBA3 GCK GLA GLB1 GLO1 GLUL GPI GPX1 GPX3 GYS1 HK1 HK2 HMGCS2 HPGDS HPRT1 HPSE2 HPSE HSD11B1 HSD11B2 HSD17B4 HSPG2 ICAM1 IGF2R IL18R1 IL18RAP IL1R1 IL1RL1 INPP5D INPPL1 IPPK ISYNA1 KL KLRC3 KLRD1 LDHC LGALS1 LGALS3 LIPC LPL LY6G6D LYPD5 MASP2 MBL2 MGAT1 MGAT5 MICA MIOX NAAA NAMPT NCAM1 OGA PARP1 PDHX PFKFB3 PGM1 PGP PIK3CA PIK3CB PIK3CD PIK3CG PIP4K2C PLA2G6 PLA2G7 PNPLA3 PRKAA2 PRKCSH PTEN PTGS2 REG1B RENBP SCD SDC2 SELE SELL SELP SIRT2 SIRT6 SLC2A12 SLC2A2 SLC2A3 SLC2A4 SLC2A8 SLC35A1 SLC35G1 SLC37A4 SLC5A1 SOAT1 ST3GAL4 SULT1E1 TKT TM7SF2 UGT1A1 UMOD VCAM1 VCAN VTCN1 XYLT1 XYLT2	100507436 1012 10135 10327 10390 1048 10554 10559 10724 10747 10855 1103 11332 120227 128 142 1462 154091 1571 1581 1589 1591 1593 159371 1594 1634 1636 1650 1717 1737 175 176 1942 2026 217 2180 2194 2208 2215 2220 224 22933 231 23274 239 240 247 2524 2538 2539 2542 2571 2572 2583 2591 2645 2683 27087 27163 2717 2720 27306 2739 2752 279 28 2821 283871 284348 2876 2878 2997 29988 308 30835 3098 3099 3158 3251 3290 3291 3295 3339 3383 3482 353 3554 3635 3636 3823 3824 3948 3956 3958 3990 4023 4153 4245 4249 4684 51477 51548 5167 5209 5236 5290 5291 5293 5294 54658 55586 5563 55790 5589 570 5728 5743 57733 57818 58530 5968 5973 60495 6319 6383 6401 6402 6403 64131 64132 64768 6484 6514 6515 6517 6523 6646 6783 7086 7108 7369 7412 79147 7941 79679 79837 80339 8050 8398 847 873 8807 8809 912 9173 929 9365 9469 9514 952 960 962 972 9993	Homo sapiens (human)
DOID:2451	protein S deficiency Aliases: Protein S deficiency disease	ABO ACE ALG6 ANXA5 CEACAM5 CEACAM7 CYP2C9 DLD DPM1 DPM2 GLA HPSE LCT MBL2 MGAT2 MPI NGLY1 PC PIGA PMM2 PPP1R3B PPP1R3C PTEN SCD SDC1 SELP SMPD1 SRD5A3 STS	1048 10855 1087 1559 1636 1738 2717 28 29929 308 3938 412 4153 4247 4351 5091 5277 5373 5507 55768 5728 6319 6382 6403 6609 79644 79660 8813 8818	Homo sapiens (human)
DOID:2280	hidradenitis suppurativa Aliases: Acne inversa, familial	ANXA5 CHI3L1 CYP4F3 ELOVL7 IDH1 IDH2 IDH3B IL1RL2 KLRB1 SULT1E1 TNF	1116 308 3417 3418 3420 3820 4051 6783 7124 79993 8808	Homo sapiens (human)
DOID:0060299	complement component 6 deficiency	ACE CALR CD55 FCN3 MASP2	10747 1604 1636 811 8547	Homo sapiens (human)
DOID:4752	multiple system atrophy Aliases: Shy-Drager syndrome	ACE COQ2 CYP11B2 ELOVL7 HEXB ICAM1 IGF2 OLR1 PAFAH1B1 PRNP	1585 1636 27235 3074 3383 3481 4973 5048 5621 79993	Homo sapiens (human)
DOID:3996	urinary system cancer	ACE ACSS2 CEACAM5 CEACAM7 COMT OGG1 PLA2G15	1048 1087 1312 1636 23659 4968 55902	Homo sapiens (human)
DOID:11541	recurrent corneal erosion Aliases: recurrent erosion of cornea recurrent erosion syndrome	ASAH1 B3GALNT2 B3GLCT B4GAT1 CHST6 CRPPA CTNS CTSA CYP1B1 DAG1 FKRP FKTN FUCA1 GLA GLB1 GUSB IDUA KDSR LARGE1 LCAT MYORG NEU1 NGLY1 OCRL PIGL PIGN POMGNT1 POMGNT2 POMK POMT1 POMT2 RXYLT1 SRD5A3 STS SUMF1	10329 10585 11041 145173 148789 1497 1545 1605 2218 23556 2517 2531 2717 2720 285362 2990 29954 3425 3931 412 4166 427 4758 4952 5476 55624 55768 57462 729920 79147 79644 84197 84892 9215 9487	Homo sapiens (human)
DOID:0111037	glycine N-methyltransferase deficiency Aliases: GNMT deficiency hypermethioninemia due to GNMT deficiency hypermethioninemia due to glycine N-methyltransferase deficiency	GNMT	27232	Homo sapiens (human)
DOID:5884	benign intermediate mesothelioma Aliases: Well-differentiated Papillary tumor of Mesothelium	L1CAM	3897	Homo sapiens (human)
DOID:321	tropical spastic paraparesis Aliases: HTLV-associated myelopathy Tropical spastic paralysis Tropical spastic paraplegia	ACAN CNTN2 HPRT1 KLRC1 KLRD1 KLRK1 SELL	176 22914 3251 3821 3824 6402 6900	Homo sapiens (human)
DOID:2273	vulvovaginitis Aliases: Vulvo-vaginitis	ABO CTNS GALNS GLA LYZ MBL2 PLB1 PSAP	1497 151056 2588 2717 28 4069 4153 5660	Homo sapiens (human)
DOID:3674	kidney rhabdoid cancer Aliases: renal Rhabdoid tumor rhabdoid tumor of the kidney	CD44 PIK3CA PIK3CB PIK3CD PIK3CG SOAT1	5290 5291 5293 5294 6646 960	Homo sapiens (human)
DOID:12935	alcoholic cardiomyopathy Aliases: Alcohol-induced heart muscle disease Dilated cardiomyopathy secondary to alcohol	ACE ALDH2 ATP6AP2 CYP2E1 GAPDH	10159 1571 1636 217 2597	Homo sapiens (human)
DOID:0110560	autosomal dominant nonsyndromic deafness 30 Aliases: DFNA30 autosomal dominant deafness 30	ACO2 ACOX1 ARSA CD109 CHSY1 COG4 LRTOMT OTOA OTOG PSAP TECTA	135228 146183 220074 22856 25839 340990 410 50 51 5660 7007	Homo sapiens (human)
DOID:0090001	Fraser syndrome Aliases: cryptophthalmos with other malformations	AKR1C4 CNTN3 COG1 CYP2B6 DGCR2 FREM1 G6PD GAS1 GYS2 LSS NT5E SLC26A2	1109 1555 158326 1836 2539 2619 2998 4047 4907 5067 9382 9993	Homo sapiens (human)
DOID:0111375	fetal akinesia deformation sequence syndrome Aliases: FADS Pena-Shokeir syndrome type 1 arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome fetal akinesia sequence foetal akinesia deformation sequence syndrome foetal akinesia sequence	AGRN CNTN1 DPAGT1 GBA1 GBE1 PDHA1 PIGS	1272 1798 2629 2632 375790 5160 94005	Homo sapiens (human)
DOID:0110255	cataract 5 multiple types Aliases: CTRCT5	AGK ALDH7A1 B3GAT1 CEACAM5 COG4 CRYL1 CYP27A1 GALK1 GCNT2 GPC5 ICAM1 INPP5K LSS OCRL PTEN SLC33A1 SORD	1048 1593 2262 25839 2584 2651 27087 3383 4047 4952 501 51084 51763 55750 5728 6652 9197	Homo sapiens (human)
DOID:0080952	AMED syndrome Aliases: AMEDS	ADH5	128	Homo sapiens (human)
DOID:0060639	permanent neonatal diabetes mellitus Aliases: PDMI PNDM permanent diabetes mellitus of infancy	GCK INS KCNJ11 SLC2A2	2645 3630 3767 6514	Homo sapiens (human)
DOID:5442	eccrine acrospiroma Aliases: Eccrine hidradenoma Eccrine hidradenoma of skin Poroma	CEACAM5	1048	Homo sapiens (human)
DOID:0090042	torsion dystonia 17	ALDH5A1	7915	Homo sapiens (human)
DOID:974	upper respiratory tract disease	ACHE	43	Homo sapiens (human)
DOID:6419	tetralogy of Fallot Aliases: Ventricular septal defect with pulmonary stenosis or atresia, dextraposition of aorta, and hypertrophy of right ventricle	ACE ACSM3 ALDH2 CD48 CERS1 COMT EOGT FIG4 GAS1 GPC5 HAS2 HIBCH PFKL PIGL PIGN SLC35A2 SULT1E1	10715 1312 1636 217 2262 23556 2619 26275 285203 3037 5211 6296 6783 7355 9487 962 9896	Homo sapiens (human)
DOID:13413	hepatic encephalopathy Aliases: Portal-systemic encephalopathy	CD14 DLD G6PD GLUL ISYNA1 PCK1 PTGS1 SMUG1 STS	1738 23583 2539 2752 412 5105 51477 5742 929	Homo sapiens (human)
DOID:12215	oligohydramnios Aliases: Oligohydramnios - delivered antepartum oligohydramnios delivered oligohydramnios	ACE ALG8 COG5 DHCR7 GCDH GMPPB PGAP2 PGAP3 PIGL PIGO PIGV PIGW PIGY POMT1 TALDO1	10466 10585 1636 1717 2639 27315 284098 29925 55650 6888 79053 84720 84992 93210 9487	Homo sapiens (human)

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