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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 **2826 - 2850** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism
DOID:331	central nervous system disease	ABO ACE ACHE ACO2 ALDH3A2 ALDH7A1 ARSA ARSB B4GALNT1 BST2 CACNA2D2 CD1D CD38 CD44 CDH13 CH25H CHAT CHI3L1 CHKB COL9A2 COLGALT1 COMT CPT1B CYB5R3 CYP1A2 CYP27A1 CYP2B6 CYP2C8 CYP2C9 CYP3A4 DEGS1 DLD EBP ECHS1 ELOVL4 ENO2 ENPP2 EPM2A FCN2 GAD1 GAD2 GALNT14 GBA1 GBA2 GCDH GLB1 GLUL GOLPH3 GPC5 GPI GPX1 GUSB HK1 HPGDS HPRT1 HS6ST3 ICAM1 IDH2 IDH3A IDS IDUA INPPL1 KL L1CAM LYZ MAG MANBA MANEAL MBL2 MDGA2 MGAT1 MGLL NAGA NCAM1 NCAN NDST3 NEU3 NYX OGA OGDH PAFAH1B1 PARP1 PGP PIGW PIK3CA PIK3CB PIK3CD PIK3CG PLA2G10 PLA2G2A PLA2G4A PLA2G6 PLB1 PNP PNPLA6 PPT1 PRNP PTEN PTGS2 RTN4R SARM1 SEMA7A SGSH SHMT1 SIGLEC7 SIRT2 SLC17A5 SLC2A4 SLC39A8 SMPD1 SMPD3 SMUG1 SPTLC1 ST8SIA4 SUCLA2 SUMF1 TMED9 TPI1	1012 10558 10682 10724 10825 10908 1103 1116 1120 11343 1298 1312 1375 142 1463 149175 151056 1544 1555 1558 1559 1576 1593 161357 1636 1727 1738 1892 2026 2220 224 2262 22933 23098 23583 2571 2572 2583 2629 2639 26503 266722 27036 2720 27306 2752 28 2821 283871 284098 285362 2876 2990 3098 3251 3383 3418 3419 3423 3425 3636 3897 4069 4099 410 411 4126 4153 4245 43 4668 4684 4860 4967 50 501 5048 5168 5290 5291 5293 5294 5320 5321 54732 5538 55512 5621 5728 5743 57704 60506 64083 64116 6448 6470 65078 6517 6609 6785 684 7167 7903 7957 79623 79709 8398 8399 8482 8560 8803 9023 912 9254 9348 9365 952 960	Homo sapiens (human)
DOID:5750	endometrial serous adenocarcinoma Aliases: uterine corpus serous adenocarcinoma uterine papillary serous carcinoma uterine serous carcinoma	CD44 CD55 FOLR1 LSS MSLN NEU1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN	10232 1604 2348 4047 4758 5290 5291 5293 5294 5728 960	Homo sapiens (human)
DOID:9621	non-congenital cyst of kidney	ALG8 CEL FH GPC3 HSD17B1 HSD17B4 INPP5E PIGT PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKD2 PMM2 PRKCSH PTEN UGCG	1056 2271 2719 3292 3295 51604 5290 5291 5293 5294 5310 5311 5373 5589 56623 5728 7357 79053	Homo sapiens (human)
DOID:9119	acute myeloid leukemia Aliases: AML - acute Myeloid Leukemia Leukemia, Myelocytic, acute acute myeloblastic leukaemia acute myeloblastic leukemia acute myelogenous leukaemia acute myelogenous leukemia acute myeloid leukaemia	Chi3l1 Gpi Idh1 Idh2 Tp53	24479 24842 292804 361596 89824	Rattus norvegicus (Norway rat)
DOID:7465	chronic NK-cell lymphocytosis Aliases: NK-cell large granular Lymphocyte Lymphocytosis	B3GAT1 FCGR3B KLRD1 NCAM1	2215 27087 3824 4684	Homo sapiens (human)
DOID:0060759	immunodeficiency with hyper IgM type 5 Aliases: HIGM5 hyper-IgM syndrome 5 hyper-IgM syndrome due to UNG deficiency hyper-IgM syndrome due to uracil N-glycosylase	UNG	7374	Homo sapiens (human)
DOID:9206	Barrett's esophagus Aliases: Barrett esophagus Barrett's esophagus with esophagitis Barrett's oesophagus Barrett's ulcer of esophagus Barretts syndrome ulcerative esophagitis	AKR1A1 AKR1B10 AKR1C2 AMACR APRT B3GAT2 CALR CAT CD44 CD55 CDH13 CEACAM5 CEACAM6 CEACAM7 CHST11 CYP17A1 CYP19A1 CYP1A1 DAD1 FASN FH FUT4 GOLPH3 GPX1 GPX2 GPX3 GPX7 HAS2 HPGDS HPSE ICAM1 ICAM2 KLRC1 KLRK1 LGALS9 MCAT MICA MPG MTAP OGG1 PARP1 PIGA PIK3CA PIK3CB PIK3CD PIK3CG PLA2G1B PLA2G4A PLB1 PLCE1 PTEN PTGES PTGS1 PTGS2 SI SLC35A2 SMUG1 SOAT1 STS TYMP UGT2B17 UGT8 VCAM1	100507436 1012 10327 1048 10855 1087 135152 142 151056 1543 1586 1588 1603 1604 1646 1890 2194 2271 22914 23583 23600 2526 27306 27349 2876 2877 2878 2882 3037 3383 3384 353 3821 3965 412 4350 4507 4680 4968 50515 51196 5277 5290 5291 5293 5294 5319 5321 57016 5728 5742 5743 64083 6476 6646 7355 7367 7368 7412 811 847 9536 960	Homo sapiens (human)
DOID:10605	short bowel syndrome Aliases: acquired short bowel syndrome short gut syndrome	LEP LEPR	3952 3953	Homo sapiens (human)
DOID:4944	gastroesophageal junction adenocarcinoma Aliases: adenocarcinoma of Cardioesophageal junction	HPGDS NEU1 PTEN PTGS2 SMUG1	23583 27306 4758 5728 5743	Homo sapiens (human)
DOID:11367	congenital aphakia Aliases: APHAKIA, CONGENITAL PRIMARY Congenital absence of lens	CYP4F3 NTM	4051 50863	Homo sapiens (human)
DOID:0112002	immunodeficiency 47 Aliases: CDG IIs CDG2S CDGIIs IMD47 congenital disorder of glycosylation type IIs immunodeficiency and hepatopathy with or without neurologic features	ATP6AP1	537	Homo sapiens (human)
DOID:0081122	Catel Manzke syndrome Aliases: Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome Micrognathia digital syndrome	TGDS	23483	Homo sapiens (human)
DOID:0050602	triple-A syndrome Aliases: AAAS Achalasia-Addisonianism-Alacrimia syndrome Allgrove Syndrome	GMPPA SGPL1	29926 8879	Homo sapiens (human)
DOID:0060256	Dowling-Degos disease Aliases: dark dot disease reticular pigment anomaly of flexures	pfut-1	180607	Caenorhabditis elegans
DOID:6128	gliomatosis cerebri Aliases: Astrocytosis cerebri	CD44 IDH1 PIK3CA PTEN	3417 5290 5728 960	Homo sapiens (human)
DOID:1415	gyrate atrophy Aliases: Gyrate atrophy of the choroid and/or retina Ornithinemia with gyrate atrophy gyrate atrophy of the retina	PRKAA2 ST8SIA4	5563 7903	Homo sapiens (human)
DOID:684	hepatocellular carcinoma Aliases: Hepatoma	aldoca aldocb foxo1a plod3 rgn	369193 403070 556077 768121 792692	Danio rerio (zebrafish)
DOID:5444	spiradenoma Aliases: Eccrine spiradenoma Eccrine spiradenoma of skin benign eccrine spiradenoma	LYZ	4069	Homo sapiens (human)
DOID:0110190	Charcot-Marie-Tooth disease type 4B2 Aliases: CMT4B2 Charcot-Marie-Tooth neuropathy type 4B2 autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin sheaths type 4B2	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:4534	Hallermann-Streiff syndrome Aliases: Francois dyscephalic syndrome Hallerman - Streiff syndrome Hallermann's syndrome	ICAM1	3383	Homo sapiens (human)
DOID:12259	hemophilia B Aliases: Congenital factor IX deficiency Congenital factor IX disorder deficiency, functional factor IX factor IX deficiency	AMT CD38 DCXR EBP G6PD GAD1 SACM1L SMUG1	10682 22908 23583 2539 2571 275 51181 952	Homo sapiens (human)
DOID:0112218	developmental and epileptic encephalopathy 83 Aliases: DEE83 early infantile epileptic encephalopathy 83	Ugp2	216558	Mus musculus (house mouse)
DOID:0110135	Bardet-Biedl syndrome 13 Aliases: BBS13	INPP5E PIGX	54965 56623	Homo sapiens (human)
DOID:12399	pathological gambling Aliases: Compulsive gambling	CHPT1 COMT DHDDS HTR2A	1312 3356 56994 79947	Homo sapiens (human)
DOID:14415	Legg-Calve-Perthes disease Aliases: Calve - Perthes' disease Coxa plana Juvenile osteochond-hip/pelvis Juvenile osteochondrosis of hip and/or pelvis Perthe's disease Perthes disease juvenile osteochondrosis of hip and pelvis osteochondrosis of Legg-Calve-Perthes pseudocoxalgia	EXT1 GNPTAB INPP5K NAGLU SLC2A10	2131 4669 51763 79158 81031	Homo sapiens (human)

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