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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 **6426 - 6450** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism
DOID:1287	cardiovascular system disease Aliases: disease of subdivision of hemolymphoid system	gys1.L gys1.S	108696758 108697802	Xenopus laevis (African clawed frog)
DOID:930	orbital disease	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:0060455	Thiel-Behnke corneal dystrophy Aliases: TBCD Waardenburg-Jonker corneal dystrophy anterior limiting membrane dystrophy type II corneal dystrophy honeycomb-shaped corneal dystrophy of Bowman layer type II	ACOT8	10005	Homo sapiens (human)
DOID:11823	hepatorenal syndrome	Tlr4 Tnf	24835 29260	Rattus norvegicus (Norway rat)
DOID:2945	severe acute respiratory syndrome Aliases: SARS SARS-CoV infection	abo.1 abo.2 abo.3 abo.4	100497509 549437 549858 550054	Xenopus tropicalis (tropical clawed frog)
DOID:4990	essential tremor Aliases: benign essential tremor essential hereditary tremor shaky hand syndrome	ADH1B AKR1A1 CYP2C19 CYP2C8 CYP2C9 GBA1 HPGDS PAFAH1B1 RTN4R SMUG1 STS	10327 125 1557 1558 1559 23583 2629 27306 412 5048 65078	Homo sapiens (human)
DOID:0110572	autosomal dominant nonsyndromic deafness 49 Aliases: DFNA49 autosomal dominant deafness 49	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:0090005	Schwartz-Jampel syndrome 1 Aliases: Aberfeld syndrome Burton skeletal dysplasia Burton syndrome Catel-Hempel syndrome Catel-Hempel type dysostosis enchondralis metaepiphysaria Schwartz-Jampel syndrome type 1 Schwartz-Jampel-Aberfeld syndrome myotonic chondrodystrophy myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies osteochondromuscular dystrophy	ACHE AKR1B1 CHST3 CYP2B6 CYP2C19 CYP2C9 HSPG2 MICA SGSH	100507436 1555 1557 1559 231 3339 43 6448 9469	Homo sapiens (human)
DOID:10017	multiple endocrine neoplasia type 1 Aliases: MEN type I Wermer syndrome Wermer's syndrome	ABO APRT CD109 CYP24A1 FUT4 GAPDH GFRA4 PIK3CA PIK3CB PIK3CD PIK3CG PLCB3 PTEN PYGM RENBP SDHA SDHB SDHC SDHD SMUG1 SORD SULT1E1	135228 1591 23583 2526 2597 28 353 5290 5291 5293 5294 5331 5728 5837 5973 6389 6390 6391 6392 64096 6652 6783	Homo sapiens (human)
DOID:0050559	Fukuyama congenital muscular dystrophy	fktn	100006345	Danio rerio (zebrafish)
DOID:10808	gastric ulcer Aliases: acute gastric ulcer with haemorrhage and perforation acute gastric ulcer with hemorrhage AND with perforation but without obstruction acute gastric ulcer with hemorrhage and obstruction acute gastric ulcer with hemorrhage and perforation acute gastric ulcer with hemorrhage and perforation, with obstruction acute gastric ulcer with hemorrhage and perforation, without mention of obstruction acute gastric ulcer with hemorrhage, with obstruction acute gastric ulcer with hemorrhage, with perforation AND with obstruction acute gastric ulcer with perforation acute gastric ulcer with perforation AND obstruction acute gastric ulcer with perforation, with obstruction acute gastric ulcer without hemorrhage and without perforation acute gastric ulcer without hemorrhage, without perforation AND without obstruction acute gastric ulcer without mention of hemorrhage or perforation, without mention of obstruction bleeding acute gastric ulcer chronic gastric ulcer without hemorrhage AND without perforation chronic gastric ulcer without hemorrhage AND without perforation but with obstruction chronic gastric ulcer without mention of hemorrhage or perforation, with obstruction	Bad	64639	Rattus norvegicus (Norway rat)
DOID:885	fascioliasis Aliases: Fasciola hepatica infection Infection by Fasciola Liver flukes Sheep liver fluke infection	HPGDS PSAP SLC17A5	26503 27306 5660	Homo sapiens (human)
DOID:0080576	spondyloepimetaphyseal dysplasia, Genevieve-type	Nans	94181	Mus musculus (house mouse)
DOID:0110789	hereditary spastic paraplegia 38 Aliases: SPG38 autosomal dominant spastic paraplegia 38 autosomal dominant spastic paraplegia type 38	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)
DOID:206	hereditary multiple exostoses Aliases: Multiple congenital exostosis Multiple exostosis syndromes Osteochondromatosis syndrome hereditary multiple exostoses 1 hereditary multiple exostoses 2 hereditary multiple exostoses 3 multiple ostechondromas	ext1 ext2 extl3	100151709 448393 493398	Xenopus tropicalis (tropical clawed frog)
DOID:8872	penis carcinoma in situ Aliases: Bowen's disease of penis Penile intraepithelial neoplasia grade III Queyrat's erythroplasia carcinoma in situ of penis grade III squamous Intraepithelial Lesion of penis	CD44 MMUT MRC1 PIK3CA PLD2	4360 4594 5290 5338 960	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:0080736	Ehlers-Danlos syndrome musculocontractural type 1	Chst14	691394	Rattus norvegicus (Norway rat)
DOID:1495	cystic echinococcosis Aliases: Echinococcus granulosus infection Echinococcus granulosus infection of lung Echinococcus granulosus infection of thyroid Liver echinococcus granulosus Thyroid echinococcus granulosus echinococcus granulosus echinococcus granulosus infectious disease echinococcus granulosus infectious disease of liver echinococcus granulosus infectious disease of thyroid lung echinococcus granulosus unilocular echinococcosis unilocular hydatid disease	TLR2 TLR4	7097 7099	Homo sapiens (human)
DOID:2960	photosensitive trichothiodystrophy Aliases: IBIDS syndrome TTD-P Tay syndrome sulfur-deficient brittle hair syndrome trichothiodystrophy with congenital ichthyosis	CAT ICAM1	3383 847	Homo sapiens (human)
DOID:0110197	Charcot-Marie-Tooth disease dominant intermediate B Aliases: CMTDI1 CMTDIB Charcot-Marie-Tooth neuropathy dominant intermediate B DI-CMTB	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:0014667	disease of metabolism Aliases: metabolic disease	ACACA ACADM ACAT1 ACE ACHE ACLY ACOX1 ACSF3 ADH1B AGL AGXT AKR1C3 AKR1D1 AMT APRT ARSA BAAT CAT CD14 CD248 CD38 CD74 CDH13 CEACAM5 CERS6 CFC1 COL9A2 CPT1A CPT2 CTNS CYP11B1 CYP11B2 CYP1B1 CYP21A2 CYP2B6 CYP2C19 CYP2C9 CYP7A1 CYP7B1 CYP8B1 DGAT1 DLD ECHS1 ELOVL6 ENO3 ENPP2 FASN G6PC1 G6PD GAA GAD2 GALC GALK1 GALNS GALNT3 GALNT8 GALT GBE1 GCDH GCK GLA GLDC GLUL GNPTAB GPIHBP1 GPX1 GPX3 GYG1 GYS2 HADH HADHA HSD11B1 HSD11B2 IDH1 IDH2 IDUA INPP5K INPPL1 INS KHK KL KLB L2HGDH LCAT LDHA LDHAL6A LDHAL6B LDHB LDHC LGALS3 LPIN2 LPL MACROD1 MBD4 MCEE MGAT1 MGAT2 MGAT4A MMUT MOGAT2 MRC1 NAMPT OGG1 OLR1 PARP1 PARP2 PCCA PCCB PCK2 PDHA1 PDHA2 PDHX PFKL PFKM PFKP PGAM2 PGM1 PGP PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKLR PKM PLA2G4A PMM2 PNP PNPLA2 PNPLA3 PRKAA2 PRPS1 PTEN PTGES PTGS2 PYGM RPIA SARM1 SCD SFTPD SI SIGLEC12 SIRT4 SIRT6 SLC17A5 SLC26A2 SLC2A2 SLC2A4 SLC2A5 SLC37A4 SLC5A1 SMPD1 SMUG1 SORD ST3GAL4 STS SULF1 SULT1E1 TALDO1 TM7SF2 TPI1 UMPS VCAM1 VNN1 VNN2	10038 1012 10135 1048 11320 125 1298 1374 1376 142 1497 152831 1545 1555 1557 1559 1581 1582 1584 1585 1589 160287 1636 1738 178 1836 189 1892 197322 2027 2194 22934 23098 23213 23409 23583 253782 2538 2539 2542 2548 2572 2581 2584 2588 2591 2592 26290 2632 2639 2645 26503 2717 2731 275 2752 283871 2876 2878 28992 2992 2998 3030 3033 31 3290 3291 338328 34 3417 3418 3425 353 3630 3636 3795 38 3931 3939 3945 3948 3958 4023 410 412 4245 4247 43 4360 4594 47 4860 4968 4973 5095 5096 51 5106 51548 5160 5161 5168 51763 5211 5213 5214 5224 5236 5290 5291 5293 5294 5310 5313 5315 5321 5373 5563 55997 5631 570 57104 57124 5728 5743 5837 6319 6441 6476 6484 6514 6517 6518 6523 6609 6652 6718 6783 6888 7108 7167 7372 7412 79071 79158 79944 80168 80339 8050 84693 847 8644 8694 8875 8876 8930 89858 92483 929 9365 9420 952 9536 9663 972	Homo sapiens (human)
DOID:14761	Greig cephalopolysyndactyly syndrome Aliases: polysyndactyly with peculiars skull shape	PGAM2	5224	Homo sapiens (human)
DOID:0110280	autosomal recessive limb-girdle muscular dystrophy type 2F Aliases: LGMD2F delta-sarcoglycanopathy limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency	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)
DOID:0050628	advanced sleep phase syndrome Aliases: familial advanced sleep-phase syndrome	Per2	18627	Mus musculus (house mouse)

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