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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 **3976 - 4000** of **4621** in total

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Disease ID	Disease Name ▼	Gene Symbol	Gene ID	Organism
DOID:0110059	X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 Aliases: AIH3 amelogenesis imperfecta type IE X-linked 2 amelogenesis imperfecta 3 hypoplastic type	AKR1C1 AKR1C2 MMP25 TMEM165	1645 1646 55858 64386	Homo sapiens (human)
DOID:14179	X-linked agammaglobulinemia Aliases: BTK deficiency Bruton agammaglobulinemia tyrosine kinase deficiency Bruton disease Bruton's Sex-Linked Agammaglobulinemia Bruton's agammaglobulinaemia Bruton's type agammaglobulinemia Bruton-type agammaglobulinemia	CD14 FCER2 FCGR3B GLA NT5E PIK3CA PIK3CB PIK3CD PIK3CG	2208 2215 2717 4907 5290 5291 5293 5294 929	Homo sapiens (human)
DOID:0080156	X-linked adrenal hypoplasia congenita Aliases: congenital adrenal hypoplasia	AKR1B1 ALDH3A2 CHAT CYP11A1 CYP11B1 GK ICAM1 IL1RAP IL1RAPL1	1103 11141 1583 1584 224 231 2710 3383 3556	Homo sapiens (human)
DOID:6683	X-linked Aarskog syndrome Aliases: Aarskog-Scott syndrome Greig's 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:0080037	Worth syndrome Aliases: Worth's syndrome autosomal dominant endosteal hyperostosis autosomal dominant osteosclerosis benign form of Worth hyperostosis corticalis generalisata with torus platinus	LRP5	4041	Homo sapiens (human)
DOID:14497	Wolman disease Aliases: Acid esterase deficiency Acid lipase deficiency Wolman xanthomatosis Wolman's disease Wolman's or triglyceride storage type III disease Xanthomatosis, familial acute infantile lysosomal acid lipase deficiency complete LAL deficiency complete LIPA deficiency complete cholesterol ester hydrolase deficiency complete lysosomal acid lipase deficiency	ASAH1 CAT CEL CHIT1 CYP27A1 FADS2 GALC GBA1 GDPD3 LIPA LIPF LPL LSS NCAM1 SCD SFTPD SLC2A3 SOAT2	1056 1118 1593 2581 2629 3988 4023 4047 427 4684 6319 6441 6515 79153 8435 847 8513 9415	Homo sapiens (human)
DOID:10632	Wolfram syndrome Aliases: WFS	COMT	1312	Homo sapiens (human)
DOID:0110629	Wolfram syndrome 1 Aliases: DIDMOAD WFS1 diabetes mellitus AND insipidus with optic atrophy AND deafness	COMT	1312	Homo sapiens (human)
DOID:384	Wolff-Parkinson-White syndrome Aliases: Anomalous A-V excitation Wolff-Parkinson-White pattern anomalous atrioventricular excitation	APRT ARSD B3GAT1 CNTN2 FCGR3B PRKAA2 PRKAG2 PRKAG3	2215 27087 353 414 51422 53632 5563 6900	Homo sapiens (human)
DOID:0050460	Wolf-Hirschhorn syndrome Aliases: 4p deletion syndrome PITT SYNDROME Pitt-Rogers-Danks Syndrome chromosome 4p16.3 deletion syndrome	IL1RL1	9173	Homo sapiens (human)
DOID:9169	Wiskott-Aldrich syndrome Aliases: Wiskott syndrome	FCER2 FUT1 G6PC3 G6PD PGK1 PKD2	2208 2523 2539 5230 5311 92579	Homo sapiens (human)
DOID:0060814	Wilson-Turner syndrome Aliases: MRXS6 WTS X-linked intellectual disability-gynecomastia-obesity syndrome mental retardation, X-linked, syndromic 6 mental retardation, X-linked, with gynecomastia and obesity	ACHE	43	Homo sapiens (human)
DOID:893	Wilson disease Aliases: Cerebral pseudosclerosis Westphal pseudosclerosis Westphal-Strumpell syndrome Wilson's disease hepatolenticular degeneration	ACACA ACE ACO1 AKR1D1 ALPP ANXA5 ARSA ATRNL1 CALR CAT CCDC115 CYP27B1 G6PD GALNS GLUL GNPAT GPX1 HJV IL1R1 NDUFAB1 PNPLA3 PRNP SLC17A5 SLC39A8 SMPD1 VCAM1	148738 1594 1636 250 2539 2588 26033 26503 2752 2876 308 31 3554 410 4706 48 5621 64116 6609 6718 7412 80339 811 84317 8443 847	Homo sapiens (human)
DOID:1928	Williams-Beuren syndrome Aliases: Fanconi Schlesinger syndrome WBS	ARSD CACNA2D1	414 781	Homo sapiens (human)
DOID:0050562	West syndrome	ABAT ALG13 CACNA2D1 HIBCH HSD17B4 NGLY1 PAFAH1B1 PDHA1 PIGA PIGP PIGQ PIGW PLCB1 PMM2 RFT1 SLC35A2 ST3GAL3	18 23236 26275 284098 3295 5048 51227 5160 5277 5373 55768 6487 7355 781 79868 9091 91869	Homo sapiens (human)
DOID:2366	West Nile fever	ABO CD14 CD48 GAD2 GBA1 GBA3 MBL2 NAMPT PIK3CA PIK3CB PIK3CD PIK3CG PLA2G1B PLB1 PLCE1 PSMD10 TMED5	10135 151056 2572 2629 28 4153 50999 51196 5290 5291 5293 5294 5319 5716 57733 929 962	Homo sapiens (human)
DOID:2365	West Nile encephalitis Aliases: West Nile Fever with encephalitis West Nile fever encephalitis	NAMPT PIK3CA PIK3CB PIK3CD	10135 5290 5291 5293	Homo sapiens (human)
DOID:10915	Wernicke-Korsakoff syndrome Aliases: Korsakoff Syndrome Korsakoff's psychosis Korsakoff's syndrome Korsakov psychosis Korsakov's psychosis	ACACA ADH1B AKR1A1 ALDH2 CAT COMT CYP19A1 DLST GAD1 GLUL PIK3CA PIK3CB PIK3CD PIK3CG PNPLA3 TKT	10327 125 1312 1588 1743 217 2571 2752 31 5290 5291 5293 5294 7086 80339 847	Homo sapiens (human)
DOID:2384	Wernicke encephalopathy Aliases: Wernicke's disease Wernicke's encephalopathy	PTGS2 SMUG1 TKT	23583 5743 7086	Homo sapiens (human)
DOID:5688	Werner syndrome Aliases: WS Werner's syndrome adult premature ageing syndrome adult progeria	ACAN ACE ALPL APRT CAT CD55 CYP27A1 DCN ENOSF1 EXT1 FDPS G6PD GCK GGT1 GLO1 GUSB ICAM1 KL NEIL1 OGG1 PARP1 PLA2R1 PLB1 PRKAA2 PRPS1 SIRT2 SIRT6 SLC35G1	142 151056 1593 159371 1604 1634 1636 176 2131 2224 22925 22933 249 2539 2645 2678 2739 2990 3383 353 4968 51548 55556 5563 5631 79661 847 9365	Homo sapiens (human)
DOID:13137	Werdnig-Hoffmann disease Aliases: HMN (Hereditary motor Neuropathy) Proximal type I SMA1 Spinal muscular atrophy 1 hereditary motor neuropathy proximal type I infantile muscular atrophy progressive muscular atrophy of infancy	APRT HEXA HSPG2	3073 3339 353	Homo sapiens (human)
DOID:4258	Weissenbacher-Zweymuller syndrome Aliases: Piere-Robin syndrome Pierre Robin Malformation	AKR1C4 ALDH2 CALR CD38 CD55 CHPT1 CNTN3 COG1 CYP2B6 DGCR2 DHDDS FREM1 G6PD GAS1 GYS2 IDUA LGALS1 LSS NT5E PARP1 SLC26A2	1109 142 1555 158326 1604 1836 217 2539 2619 2998 3425 3956 4047 4907 5067 56994 79947 811 9382 952 9993	Homo sapiens (human)
DOID:0050475	Weill-Marchesani syndrome Aliases: GEMSS syndrome Marchesani-Weill Syndrome Mesodermal Dysmorphodystrophy, Congenital Spherophakia Brachymorphia Syndrome congenital mesodermal dystrophy	CERS3 TNF	204219 7124	Homo sapiens (human)
DOID:14731	Weaver syndrome Aliases: WEAVER-LIKE SYNDROME Weaver-Williams syndrome	PIK3CA	5290	Homo sapiens (human)
DOID:9931	Waterhouse-Friderichsen syndrome Aliases: Meningococcal hemorrhagic adrenalitis	ATP6AP2 CD44 CHST3 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP21A2 CYP4F3 G6PD HSD11B2 HSD3B1 HSD3B2 LGALS3 OCRL PRSS8 SLC26A2 SLC33A1 SLC5A1	10159 1583 1584 1585 1586 1589 1836 2539 3283 3284 3291 3958 4051 4952 5652 6523 9197 9469 960	Homo sapiens (human)

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