GlyCosmos Portal

Table Filtering

Disease ID

Disease Name

Gene Symbol

Gene ID

Organism

Display
results per page.

Clear

Submissions

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 **6201 - 6225** of **7942** in total

« First

‹ Prev

…

245

246

247

248

249

250

251

252

253

…

Next ›

Last »
Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼
DOID:699	mitochondrial myopathy Aliases: mitochondrial cytopathy	ACACA ACOX1 AGK ALDH2 APRT ARSA CERS6 CPT2 CS DHDDS FOLR2 GAA GBE1 GGT1 GPX1 HMGCL HSD17B6 OGG1 PDHA1 SDHA SDHB SDHC SLC39A8 SOAT1 SORD TYMP	1376 1431 1890 217 2350 253782 2548 2632 2678 2876 31 3155 353 410 4968 51 5160 55750 6389 6390 6391 64116 6646 6652 79947 8630	Homo sapiens (human)
DOID:5723	optic atrophy Aliases: atrophy of optic disc	ACO2 ACOX1 AGXT ALG13 ALG3 ARSA ATP6V1A B3GALNT2 B3GLCT B4GAT1 CA4 CHSY1 COMT CRPPA CYP1B1 CYP2B6 CYP7B1 DAG1 DGKG EBP ECHS1 ENO2 FCSK FH FKRP FKTN GALC GLA GLB1 GMPPA GMPPB GPAA1 HGSNAT HSD17B6 IDH3A IDH3B INPP5K L2HGDH LARGE1 MAG MCAT MECR MMUT MOGS MPDU1 NAGA NGLY1 PCK1 PDHA1 PDHX PIGQ PIK3CA PKLR PLA2G6 PNPLA6 POMGNT1 POMGNT2 POMK POMT1 POMT2 PPT1 PRKAA2 PRPS1 PSAP RPIA RXYLT1 SDHA SDHD SLC5A1 SRD5A3 ST3GAL5 STT3B SUMF1 SYNJ1 TMED9 TMTC3 TREH VCAN	10195 10329 10585 10682 10908 11041 11181 1312 138050 145173 1462 148789 1545 1555 160418 1605 1608 189 1892 197258 201595 2026 2218 2271 22856 22934 2581 2717 2720 27349 285362 29925 29926 29954 3419 3420 4099 410 4594 4668 50 51 5105 51102 5160 51763 523 5290 5313 54732 5538 55624 5563 55768 5631 5660 6389 6392 6523 729920 762 7841 79147 79644 79868 79944 8050 8398 84197 84892 8630 8733 8867 8869 9091 9215 9420 9526	Homo sapiens (human)
DOID:0080217	lysosomal acid lipase deficiency Aliases: LAL deficiency LAL-D	CAT CEL CHIT1 LIPA LIPF NCAM1 SOAT2	1056 1118 3988 4684 8435 847 8513	Homo sapiens (human)
DOID:2033	communication disorder	ARSD DLD GPD2 PPP1R3A PRPS1 PTEN STS	1738 2820 412 414 5506 5631 5728	Homo sapiens (human)
DOID:0060643	primary sclerosing cholangitis	AGA ARSA B3GAT1 CD14 CEACAM5 CEACAM7 CLEC16A DLAT FUT2 FUT3 GAL3ST2 ICAM1 IL18R1 IL1R1 INPP5A KLRK1 LSS MANBA MGLL MICA NCAM1 NEIL1 PIK3CD PLA2G10 PLA2G2A PLA2G2D PNPLA3 PTGES PTGS2 SDC1 SLC17A5 SMUG1 STS TNF	100507436 1048 1087 11343 1737 175 22914 23274 23583 2524 2525 26279 26503 27087 3383 3554 3632 4047 410 412 4126 4684 5293 5320 5743 6382 64090 7124 79661 80339 8399 8809 929 9536	Homo sapiens (human)
DOID:13725	beriberi	AGXT CHAT SLC35F3 TKT	1103 148641 189 7086	Homo sapiens (human)
DOID:14791	Leber congenital amaurosis Aliases: LCA Leber's amaurosis Leber's congenital amaurosis Leber's disease	ADH7 ELOVL4 ENO2 HSD17B6 LPCAT1 PCYT1A PNPLA6	10908 131 2026 5130 6785 79888 8630	Homo sapiens (human)
DOID:14445	chronic closed-angle glaucoma Aliases: Anatomical narrow angle glaucoma chronic angle-closure glaucoma chronic narrow angle glaucoma	AKR1C4 CAT CHAT CYP1B1 CYP2B6 DCN DPM2 NT5E OGG1	1103 1109 1545 1555 1634 4907 4968 847 8818	Homo sapiens (human)
DOID:5715	functionless pituitary adenoma Aliases: Non-Functioning neoplasm of the Pituitary Non-Secretory adenoma of the Pituitary gland	HSD11B1 PIK3CA PIK3CB PIK3CD PIK3CG QTRT1	3290 5290 5291 5293 5294 81890	Homo sapiens (human)
DOID:0111626	D-glyceric aciduria Aliases: D-glycerate kinase deficiency D-glyceric acidemia D-glycericacidemia deficiency of glycerate kinase non ketotic hyperglycinemia syndrome	GLYCTK	132158	Homo sapiens (human)
DOID:0060802	syndromic X-linked intellectual disability Snyder type Aliases: SRS Snyder-Robinson mental retardation syndrome Snyder-Robinson syndrome mental retardation, X-linked, Snyder-Robinson type spermine synthase deficiency	GPI PIK3CA PIK3CB PIK3CD PIK3CG	2821 5290 5291 5293 5294	Homo sapiens (human)
DOID:4183	pseudopseudohypoparathyroidism Aliases: Normocalcemic pseudohypoparathyroidism	APRT ASAH1 GPC1	2817 353 427	Homo sapiens (human)
DOID:0110948	Waardenburg syndrome type 1 Aliases: WS1 Waardenburg syndrome type I	ABO ALPP	250 28	Homo sapiens (human)
DOID:0070257	congenital disorder of glycosylation type IIe Aliases: CDG IIe CDG syndrome type IIe CDG2E CDGIIde COG7-CDG Carbohydrate deficient glycoprotein syndrome type IIe	COG7	91949	Homo sapiens (human)
DOID:775	intraocular lymphoma Aliases: primary intraocular lymphoma	CAT	847	Homo sapiens (human)
DOID:0060160	childhood spinal muscular atrophy Aliases: spinal muscular atrophies of childhood survival motor neuron spinal muscular atrophy	APRT HEXA HSPG2	3073 3339 353	Homo sapiens (human)
DOID:9682	yellow fever Aliases: Sylvatic yellow fever Yellow fever, sylvan jungle yellow fever urban yellow fever	ABO ACHE AGPAT1 AMACR ANXA5 APRT BST2 CAT CD14 CD209 CD33 CD38 CERS1 CHST10 CLEC5A CSPG5 DDOST FASN FCGR3B G6PD GAPDH GOLPH3 HPSE2 HPSE HSD17B6 ICAM1 IL1RL1 KLRC1 LGALS9 MBL2 MGAM MICA MOGS MRC1 NAAA PIK3CA PIK3CB PIK3CD PIK3CG PLCE1 PRKAA2 PRNP PTGS2 SCD SELE SI SIRT6 SLC17A5 SMUG1 SOAT1 SPHK1 SPHK2 STT3B TM7SF2 TPI1 VCAM1	100507436 10554 10675 10715 10855 1650 201595 2194 2215 23583 23600 23601 2539 2597 26503 27163 28 308 30835 3383 353 3821 3965 4153 43 4360 51196 51548 5290 5291 5293 5294 5563 5621 56848 5743 60495 6319 6401 64083 6476 6646 684 7108 7167 7412 7841 847 8630 8877 8972 9173 929 945 9486 952	Homo sapiens (human)
DOID:10548	cardia cancer Aliases: Ca cardia - stomach malignant neoplasm of cardia of stomach	CD44 SPHK1 UGT2B7	7364 8877 960	Homo sapiens (human)
DOID:0110107	atrial heart septal defect 2 Aliases: ASD2 atrial septal defect 2	ACADVL ALG12 ARSA ARSD ATP6V1A B3GALT6 B3GAT3 B3GLCT CAT CFC1 CHST14 CHST3 COMT CYP11A1 CYP11B2 CYP1B1 CYP2E1 DSE FIG4 FKTN G6PC3 GAA GPC3 GPC6 MASP1 MMUT PCYT1A PIGA PIGN PIGQ PLD1 PTEN RENBP SMC3 TALDO1 TGDS TKT XYLT2	10082 113189 126792 1312 145173 1545 1571 1583 1585 2218 23483 23556 2548 26229 2719 29940 37 410 414 4594 5130 523 5277 5337 55997 5648 5728 5973 64132 6888 7086 79087 847 9091 9126 92579 9469 9896	Homo sapiens (human)
DOID:0110056	amelogenesis imperfecta type 1C Aliases: AI1C amelogenesis imperfecta type IC autosomal recessive amelogenesis imperfecta hypoplastic with or without openbite malocclusion autosomal recessive amelogenesis imperfecta local hypoplastic type	AKR1C1 AKR1C2 MMP25 TMEM165	1645 1646 55858 64386	Homo sapiens (human)
DOID:1107	esophageal carcinoma Aliases: cancer of esophagus cancer of oesophagus carcinoma of esophagus carcinoma of oesophagus	ABO ACACA ACE ACSS2 ADH1B ADH1C ADH4 ADH7 AKR1A1 AKR1B10 AKR1C3 ALDH2 ALOX15B ANXA7 ARSA B3GAT1 BDH2 C1GALT1 CALR CD38 CDH13 CEACAM5 CEACAM7 CHGA CHST15 CNTN1 COG8 CYP19A1 CYP1A1 CYP1B1 CYP24A1 CYP2C19 CYP2C9 CYP2E1 CYP3A5 DAG1 DCN DEGS1 DGKH DHCR24 ENO1 FASN G6PD GAPDH GML GOLPH3 HPGDS HPRT1 HPSE HSPG2 ICAM1 ICAM2 IL18R1 LGALS3 LGALS9 LY6K MAN2C1 MRC1 MTAP NANP NANS NEIL1 OGG1 PARP1 PARP2 PCYT1A PDHA1 PGD PGK1 PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G15 PLA2G2A PLCE1 PLOD3 PNP PRKAA2 PSMD10 PTEN PTGES3 PTGES PTGS1 PTGS2 RECK RPN2 SDHA SDHB SDHC SHMT2 SIGLEC1 SIRT6 SLC35A2 SMUG1 SOAT1 ST6GAL1 ST6GAL2 ST8SIA4 TM7SF2 TUSC3 UGT1A1 UGT1A8 UGT2B4 UMOD UMPS UNG VTCN1	10038 1012 10327 1048 10728 10855 1087 1113 125 126 127 1272 131 140838 142 1543 1545 1557 1559 1571 1577 1588 1591 1605 160851 1634 1636 1718 2023 217 2194 23583 23659 247 2539 2597 27087 27306 2765 28 31 310 3251 3339 3383 3384 3958 3965 410 4123 4360 4507 4860 4968 51196 5130 51363 51548 5160 5226 5230 5290 5291 5293 5294 5315 5320 54187 54576 54658 54742 5563 55902 56898 56913 57016 5716 5728 5742 5743 6185 6389 6390 6391 64083 6472 6480 6614 6646 7108 7355 7363 7369 7372 7374 7903 79661 79679 7991 811 8434 84342 84620 8560 8644 8809 8985 952 9536	Homo sapiens (human)
DOID:573	nerve compression syndrome Aliases: Compression neuropathy entrapment neuropathy peripheral nerve entrapment syndrome	MAG	4099	Homo sapiens (human)
DOID:2236	congenital afibrinogenemia Aliases: Factor I deficiency Fibrinogen deficiency	LMAN1 MCFD2 NGLY1 PC	3998 5091 55768 90411	Homo sapiens (human)
DOID:0050644	arterial calcification of infancy Aliases: generalized arterial calcification of infancy idiopathic infantile arterial calcification infantile arteriosclerosis	ENPP1 NT5E	4907 5167	Homo sapiens (human)
DOID:4157	secondary syphilis Aliases: secondary syphilis of viscera or bone	CD14 EXTL3	2137 929	Homo sapiens (human)

Download data in CSV format Download data in TSV format Download data in JSON format

Table Filtering

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

All Resources

Other Information

Tools

Search Tools

International Collaboration

Acknowledgements