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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 **2726 - 2750** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0110273	autosomal dominant limb-girdle muscular dystrophy	ACAN ACE ACHE AGK AGL ALDH7A1 ALOX12 ALPP APRT ATRNL1 B3GALNT2 B4GALNT2 B4GAT1 CD44 CHKA CHKB CRPPA CTNS DAG1 DCN DPEP1 DPM1 DPM2 DPM3 ENO1 FKRP FKTN GAA GK GLB1 GMPPB GNE HACD1 HPGDS HSPG2 IDH2 IMPA1 INPP5B INPP5K LARGE1 LARGE2 LGALS3 MBL2 MGAM PARP1 PIK3C2A PMM2 POGLUT1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PRG2 PRKAA2 PYGM RGN RXYLT1 SDC2 SI SIRT2 SLC3A1 ST3GAL4 SYNJ1 SYNJ2	10020 10329 10585 11041 1119 1120 120071 124872 142 148789 1497 1605 1634 1636 176 178 1800 2023 2218 22933 239 250 2548 26033 2710 2720 27306 29925 29954 3339 3418 353 3612 3633 3958 4153 43 501 51763 5286 5373 54344 5553 55624 5563 55750 56983 5837 6383 6476 6484 6519 729920 79147 84197 84892 8813 8818 8867 8871 8972 9104 9200 9215 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:3246	embryonal rhabdomyosarcoma	EFNA1 HPSE ICAM1 PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN SMPD1	10855 142 1942 3383 5290 5291 5293 5294 5728 6609	Homo sapiens (human)	DisGeNET
DOID:4844	benign ependymoma Aliases: WHO grade II Ependymal tumor epithelial ependymoma	AKR1A1 ASAH1 CALR CD38 CD44 CHI3L1 IDH1 IDH2 IL18R1 IL1R1 L1CAM PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGS2 TDG TNFRSF10C	10327 1116 3417 3418 3554 3897 427 5290 5291 5293 5294 5728 5743 6996 811 8794 8809 952 960	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0080482	peroxisome biogenesis disorder 7A Aliases: peroxisome biogenesis disorder 7A (Zellweger)	ACACA ACOT7 CAT GAA	11332 2548 31 847	Homo sapiens (human)	DisGeNET
DOID:11211	buphthalmos Aliases: primary congenital glaucoma 3A simple buphthalmos	ARSD B3GAT3 CHST3 CYP1B1 CYP2B6 DAG1 FKRP FKTN FUT8 LARGE1 OCRL POMGNT1 POMT1 POMT2 PTEN	10585 1545 1555 1605 2218 2530 26229 29954 414 4952 55624 5728 79147 9215 9469	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0111271	Oliver-McFarlane syndrome Aliases: OMCS eyelashes long mental retardation long eyelashes-intellectual disability syndrome trichomegaly-retina pigmentary degeneration-dwarfism syndrome	NT5E PNPLA6	10908 4907	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0050242	primary amebic meningoencephalitis Aliases: Naegleria fowleri infection	CYP51A1	1595	Homo sapiens (human)	DisGeNET
DOID:883	parasitic helminthiasis infectious disease Aliases: helminth infection helminthiasis helminthosis worm infection	ABO AGXT CD38 CLEC7A FCER2 GLB1 IL1RL1 SUCLA2	189 2208 2720 28 64581 8803 9173 952	Homo sapiens (human)	DisGeNET
DOID:0110545	autosomal dominant nonsyndromic deafness 13 Aliases: DFNA13 autosomal dominant deafness 13	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)	DisGeNET DisGeNET
DOID:0050458	juvenile myelomonocytic leukemia	ACHE CALR CD14 CD38 ETNK1 FCGR3B FUT1 FUT4 IL18R1 IL1R1 INPP5D LYZ MOGS PAFAH1B1 PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN SOAT1 XYLT2	142 2215 2523 2526 3554 3635 4069 43 5048 5290 5291 5293 5294 55500 5728 64132 6646 7841 811 8809 929 952	Homo sapiens (human)	DisGeNET DisGeNET
DOID:4830	adenosquamous carcinoma Aliases: Adenosquamous cell carcinoma mixed adenocarcinoma and squamous carcinoma	CALR CLEC10A MGLL PGK1 PIK3CA PTEN SIGLEC7	10462 11343 27036 5230 5290 5728 811	Homo sapiens (human)	DisGeNET
DOID:0060715	autosomal recessive congenital ichthyosis 6 Aliases: ARCI6	ALDH3A2 ALOX12B CERS3 COG7 GBA1 STS SULT2B1	204219 224 242 2629 412 6820 91949	Homo sapiens (human)	DisGeNET
DOID:611	obsolete leukocyte-adhesion deficiency syndrome	FUT4	2526	Homo sapiens (human)	DisGeNET
DOID:0070341	neonatal-onset type II citrullinemia Aliases: neonatal-onset type 2 citrullinemia	SLC25A13	10165	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110776	hereditary spastic paraplegia 25 Aliases: SPG25 autosomal recessive spastic paraplegia 25 autosomal recessive spastic paraplegia type 25	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)	DisGeNET
DOID:3720	extramedullary plasmacytoma Aliases: extraosseous plasmacytoma plasmacytoma, extramedullary	CAT CD38 ICAM1 LPL NCAM1 PCYT1A PIGA PTEN SDC1 SMUG1 SOAT1	23583 3383 4023 4684 5130 5277 5728 6382 6646 847 952	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0050214	Lambert-Eaton myasthenic syndrome Aliases: Eaton-Lambert syndrome LEMS Lambert-Eaton syndrome	ACHE CEACAM6 CHAT DPAGT1 GMPPB ICAM1 PTEN	1103 1798 29925 3383 43 4680 5728	Homo sapiens (human)	DisGeNET
DOID:0070314	obstructive nephropathy Aliases: CON congenital obstructive nephropathy	PIK3CA PIK3CB PIK3CD PIK3CG VNN1	5290 5291 5293 5294 8876	Homo sapiens (human)	DisGeNET
DOID:0080510	epidermolysis bullosa simplex localized type Aliases: epidermolysis bullosa simplex Weber-Cockayne type	GALK1	2584	Homo sapiens (human)	DisGeNET
DOID:0080558	congenital disorder of glycosylation If Aliases: congenital disorder of glycosylation 1f	ALG3 MPDU1	10195 9526	Homo sapiens (human)	Glyco-Disease Genes Database DisGeNET Alliance of Genome Resources
DOID:14766	renal agenesis Aliases: hereditary renal aplasia hereditary urogenital adysplasia renal adysplasia renal aplasia	FKRP FKTN FREM1 GFRA1 GPC3 LARGE1 PIGN PIGP PIGQ POMT1 POMT2 SLC2A4	10585 158326 2218 23556 2674 2719 29954 51227 6517 79147 9091 9215	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:5728	diffuse peritoneal leiomyomatosis Aliases: leiomyomatosis peritonealis disseminata	CYP19A1	1588	Homo sapiens (human)	DisGeNET
DOID:11119	Gilles de la Tourette syndrome Aliases: Guinon's disease Psychogenic tics Tourette syndrome motor-verbal tic disorder	ALG9 CHAT CNTN6 COMT ENO2 GPC5 HEXD HK1 HPGDS IL1R1 LCT LYPD6 OGA PARP1 PARP9 PKM	10724 1103 130574 1312 142 2026 2262 27255 27306 284004 3098 3554 3938 5315 79796 83666	Homo sapiens (human)	DisGeNET
DOID:11100	Q fever Aliases: Infection due to Coxiella burnetii	ACHE ALPI ALPP APRT CS DHCR24 LSS MTAP PTGS2 SMUG1	1431 1718 23583 248 250 353 4047 43 4507 5743	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
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)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources

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