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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 **1826 - 1850** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:9888	alternating esotropia	COG8	84342	Homo sapiens (human)
DOID:0110246	cataract 26 multiple types Aliases: CTRCT26	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:14286	neurogenic arthropathy Aliases: Arthropathy associated with neurological disorder Charcot's arthropathy Neuropathic arthropathy	ACAN ALOX5 CD14 CHI3L1 CHST3 CNTN2 CPT2 DCN DHCR24 ENPP1 GPI HJV HK1 IL1R1 LGALS3 MBL2 PTGS1 PTGS2 SFTPD SMUG1 VCAN VTCN1	1116 1376 1462 148738 1634 1718 176 23583 240 2821 3098 3554 3958 4153 5167 5742 5743 6441 6900 79679 929 9469	Homo sapiens (human)
DOID:0080932	primary localized cutaneous amyloidosis 3 Aliases: Amyloidosis cutis dyschromica	GPNMB	10457	Homo sapiens (human)
DOID:4717	extragonadal germ cell cancer Aliases: extragonadal germ cell malignant tumor neoplasm of Extragonadal germ cell	PLCB3	5331	Homo sapiens (human)
DOID:0060842	isolated microphthalmia 3 Aliases: MCOP3	ALDH1A3	220	Homo sapiens (human)
DOID:0090044	dystonia 9	SLC2A1	6513	Homo sapiens (human)
DOID:0080029	autosomal recessive spinocerebellar ataxia 16 Aliases: SCAR16	CNTN4 SUMF1	152330 285362	Homo sapiens (human)
DOID:11162	respiratory failure Aliases: acute and chronic respiratory failure acute respiratory Failure acute-on-chronic respiratory failure chronic respiratory failure respiratory insufficiency/failure	ABO CYP1A1 IDH1 MBL2 PARP1 PIK3C3 PTEN SFTPA2 SFTPD SLC2A10	142 1543 28 3417 4153 5289 5728 6441 729238 81031	Homo sapiens (human)
DOID:0060696	hyperekplexia 1 Aliases: HKPX1	PRNP	5621	Homo sapiens (human)
DOID:216	dental caries Aliases: Dental caries extending into pulp Dental caries of smooth surface Dental caries pit and fissure	ACE AGA ALOX15 ALPL ATP6V0A2 ATP6V1A CALR CD14 COG6 COMT DAG1 FCN2 GALK2 GALNS GLB1 GLUL IDUA ITPKB LYZL2 MBL2 MTM1 MTMR3 NDUFAB1 OCRL PIGA PLA2G6 PSAP PTEN SGMS2 SLC2A2 SLC2A4 SRGN TMTC3	119180 1312 160418 1605 1636 166929 175 2220 23545 246 249 2585 2588 2720 2752 3425 3707 4153 4534 4706 4952 523 5277 5552 5660 5728 57511 6514 6517 811 8398 8897 929	Homo sapiens (human)
DOID:4795	GM2 gangliosidosis, AB variant Aliases: Tay-Sachs disease AB variant Tay-Sachs disease, variant AB	GM2A HEXA HEXB OGA	10724 2760 3073 3074	Homo sapiens (human)
DOID:9191	diabetic macular edema	CD14 CHI3L1 GAL3ST1 HK1 ICAM1 LGALS1 PLA2G7 RPE SLC35A1	10559 1116 3098 3383 3956 6120 7941 929 9514	Homo sapiens (human)
DOID:0090016	chromosome 5q deletion syndrome Aliases: 5q- syndrome, refractory macrocytic anemia due to 5q deletion myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality	ANXA5 CD14 CD74 HMMR	308 3161 929 972	Homo sapiens (human)
DOID:4441	dysgerminoma	CD14 CYP19A1 CYP27B1 OPCML PGD PIK3CA PTEN	1588 1594 4978 5226 5290 5728 929	Homo sapiens (human)
DOID:7365	Kimura disease Aliases: Kimura's disease	CD48 FUT4 LGALS9 MLYCD SMUG1	23417 23583 2526 3965 962	Homo sapiens (human)
DOID:0112152	CHIME syndrome Aliases: PIGL-CDG Zunich neuroectodermal syndrome Zunich-Kaye syndrome coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome congenital disorder of glycosylation due to PIGL deficiency neuroectodermal dysplasia, CHIME type neuroectodermal syndrome, Zunich type	PIGL	9487	Homo sapiens (human)
DOID:0050431	arrhythmogenic right ventricular cardiomyopathy Aliases: ARVC ARVC cardiomyopathy ARVD arrhythmogenic right ventricular dysplasia arrhythmogenic right ventricular dysplasia/cardiomyopathy right ventricular ACM	FASN GNPTAB HACD1 IL18R1 PIK3CA PIK3CB PIK3CD PIK3CG	2194 5290 5291 5293 5294 79158 8809 9200	Homo sapiens (human)
DOID:11175	enophthalmos	ACHE ALG1 ALG9 ALPL B3GALT6 B4GALT7 COG4 EFNA5 FIG4 HAS2 ICAM1 PTEN SMUG1 UGDH XYLT1	11285 126792 1946 23583 249 25839 3037 3383 43 56052 5728 64131 7358 79796 9896	Homo sapiens (human)
DOID:0110227	cataract 32 multiple types Aliases: CTRCT32	ACE AGK ALDH7A1 CHI3L1 CRYL1 CYP1A1 CYP27A1 FCGR3B FCN2 GALK1 GCNT2 GPC5 INPP5K LSS MBL2 OCRL PTEN SDC4 SFTPA1 SFTPA2 SFTPD SLC17A5 SLC2A10 SLC33A1 SMC3 SMPD1 SORD	1116 1543 1593 1636 2215 2220 2262 2584 26503 2651 4047 4153 4952 501 51084 51763 55750 5728 6385 6441 653509 6609 6652 729238 81031 9126 9197	Homo sapiens (human)
DOID:0110064	amelogenesis imperfecta type 1H Aliases: AI1H amelogenesis imperfecta type IH	AKR1C1 AKR1C2 MMP25 TMEM165	1645 1646 55858 64386	Homo sapiens (human)
DOID:10966	lipoid nephrosis Aliases: Minimal Change Glomerulonephritis Minimal change disease Nephrotic syndrome with lesion of minimal change glomerulonephritis Nephrotic syndrome with lesion of minimal change nephrotic syndrome	ACAT1 ACE ALOX5 CALR CHST14 CNTN1 CYP2C19 CYP3A4 CYP3A5 DGAT1 DGKE EXT1 FCGR3B GLA GLO1 GPAM GPC3 GPC5 HPGDS HPSE HSD11B2 HSPG2 IL1R1 KL LCAT LGALS1 LIPC LTA4H LYZ MLYCD NAGLU OGA PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PLA2G7 PLA2R1 PLB1 PLCE1 PLCG2 PMM2 PTGS2 SDC1 SDC2 SGPL1 SLC17A5 STS TREH VCAM1	10724 10855 11181 113189 1272 151056 1557 1576 1577 1636 2131 2215 2262 22925 23417 240 26503 2717 2719 27306 2739 3291 3339 3554 38 3931 3956 3990 4048 4069 412 4669 51196 5290 5291 5293 5294 5310 5336 5373 5743 57678 6382 6383 7412 7941 811 8526 8694 8879 9365	Homo sapiens (human)
DOID:0110704	hypotrichosis 7 Aliases: Hypt7 Lah2 hypotrichosis, localized, autosomal recessive 2 total Mari type hypotrichosis,	GLB1 PTGS2	2720 5743	Homo sapiens (human)
DOID:13902	white piedra Aliases: Tinea blanca	ABO ATP6V1A CAT CD14 CD209 CLEC1A CLEC7A CYP2C19 CYP51A1 LGALS1 MBL2 MRC1	1557 1595 28 30835 3956 4153 4360 51267 523 64581 847 929	Homo sapiens (human)
DOID:13207	proliferative diabetic retinopathy Aliases: PDR	ACE ADIPOQ AKR1A1 AKR1B1 ATP6AP2 CAT CD44 CPM DPEP1 ENO2 ENPP2 HPSE ICAM1 LGALS1 PLA2G7 PNPLA2 RBP4 RPE SDC1 SELP SORD VCAM1	10159 10327 10855 1368 1636 1800 2026 231 3383 3956 5168 57104 5950 6120 6382 6403 6652 7412 7941 847 9370 960	Homo sapiens (human)

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