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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 **2201 - 2225** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:9164	achalasia Aliases: Lack of reflex relaxation of lower oesophageal sphincter achalasia of cardia achalasia of esophagus cardiospasm esophageal achalasia hypertensive lower esophageal sphincter	AGA CALR ECI1 FUT3 GMPPA	1632 175 2525 29926 811	Homo sapiens (human)
DOID:0110515	autosomal recessive nonsyndromic deafness 63 Aliases: DFNB63 autosomal recessive deafness 63	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:0080132	Sengers syndrome Aliases: mitochondrial DNA depletion syndrome 10 mitochondrial DNA depletion syndrome 10 (cardiomyopathic type)	AGK CS	1431 55750	Homo sapiens (human)
DOID:3928	adiposis dolorosa Aliases: Dercum disease	CEL PIK3CA PIK3CB PIK3CD PIK3CG PNPLA6 PTEN	1056 10908 5290 5291 5293 5294 5728	Homo sapiens (human)
DOID:809	cocaine abuse	ABAT COMT EXTL3 FDFT1 GAD1 GAD2 HTR2A MANEA NPY1R NTNG1 PIK3CA PIK3CB PIK3CD PIK3CG PRKAA2 RECK SMUG1 UMOD	1312 18 2137 2222 22854 23583 2571 2572 3356 4886 5290 5291 5293 5294 5563 7369 79694 8434	Homo sapiens (human)
DOID:0110632	megaconial type congenital muscular dystrophy Aliases: congenital megaconial myopathy congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect congenital muscular dystrophy with mitochondrial structural abnormalities megaconial congenital muscular dystrophy	ACACA ACHE ALDH2 B4GAT1 CD38 CHKA CHKB CNTN1 FKRP FKTN GBE1 HACD1 HK1 LARGE1 MTM1 MTMR14 POMGNT1 POMT1 PRKAA2	10585 11041 1119 1120 1272 217 2218 2632 3098 31 43 4534 55624 5563 64419 79147 9200 9215 952	Homo sapiens (human)
DOID:9282	ocular hypertension	ACSM3 AKR1B1 CYP1B1 HPSE2 TPI1	1545 231 60495 6296 7167	Homo sapiens (human)
DOID:0060484	EAST syndrome Aliases: SeSAME syndrome epilepsy, ataxia, sensorineural deafness and tubulopathy seizures, sensorineural deafness, ataxia, mental retardation and electrolyte imbalance	PI4KB	5298	Homo sapiens (human)
DOID:4454	childhood kidney cell carcinoma Aliases: pediatric renal cell carcinoma	CD44 COMT CYP1A1 CYP1B1 FH LGALS3 PTEN SDHB SMUG1 SORD VCAN	1312 1462 1543 1545 2271 23583 3958 5728 6390 6652 960	Homo sapiens (human)
DOID:0090114	Sorsby's fundus dystrophy Aliases: SFD hemorrhagic macular dystrophy pseudoinflammatory fundus dystrophy of Sorsby	RPE	6120	Homo sapiens (human)
DOID:2640	struma ovarii	SMUG1	23583	Homo sapiens (human)
DOID:3947	adrenal gland hyperfunction Aliases: Adrenocortical hyperfunction hyperadrenalism hypercortisolism	ACAT1 ACE AKR1B1 APRT CYP11B1 CYP11B2 CYP17A1 CYP19A1 CYP3A4 CYP4F3 FASN FH HSD11B1 HSD11B2 HSD3B1 HSD3B2 SMUG1	1576 1584 1585 1586 1588 1636 2194 2271 231 23583 3283 3284 3290 3291 353 38 4051	Homo sapiens (human)
DOID:2921	glomerulonephritis	ABO ACACA ACACB ACE ACSL1 ACSL4 AGPAT2 AKR1B1 ALG1 ALOX12 ALOX15 ALOX5 ALPL ANXA5 APRT ARSA ART1 ATP6AP2 C1GALT1 C1GALT1C1 CALR CAT CD38 CD44 CD48 CD74 CDH13 CEL CHI3L1 CHIT1 CLC CNTN3 COLEC11 CTNS CYP19A1 CYP24A1 CYP27B1 CYP2B6 CYP2C19 CYP2C8 CYP2C9 CYP2E1 CYP2J2 CYP3A5 DCN DDOST DGKE DLST ELOVL5 ENO1 ENO2 ENPP1 EPHX2 FADS2 FAR2 FCGR3B FCN2 FH FMOD G6PC1 G6PD GAD1 GAD2 GALNS GAPDH GAS1 GCK GFPT1 GLA GLO1 GPC5 GPX3 HAS2 HAS3 HPRT1 HPSE HSD11B2 HSPG2 ICAM1 IL1R1 INPP5D INPP5E KL LAYN LCAT LGALS1 LGALS3 LGALS9 LIPC LPIN2 LTC4S LYZ MASP1 MASP2 MBL2 MDH2 MLYCD NAGLU NAMPT NCAM1 NDST1 NEIL3 NEU1 OCRL OGA OGG1 PAFAH1B1 PARP1 PC PIK3CG PKD1 PKD2 PKM PLA2G1B PLA2G2A PLA2G7 PLA2R1 PLAUR PLB1 PLCE1 PRKAA2 PTEN PTGDS PTGES PTGS1 PTGS2 RENBP RGN SACM1L SCD SDC1 SDC2 SDC4 SDHA SDHB SDHC SDHD SELE SELL SELP SFTPD SIGLEC1 SIGLEC7 SIRT6 SLC17A5 SLC2A2 SLC33A1 SLC37A4 SLC5A1 SMPDL3B SMUG1 SOAT1 SORD SPHK1 ST8SIA4 STS SULT1E1 TBXAS1 TM7SF2 TREH UGT2B17 UMOD VCAM1 VCAN VTCN1 XYLT1 XYLT2	1012 10135 10159 10555 1056 10724 10747 10855 1116 1118 11181 1178 142 143903 1462 1497 151056 1555 1557 1558 1559 1571 1573 1577 1588 1591 1594 1634 1636 1650 1743 2023 2026 2053 2180 2182 2215 2220 2262 2271 22908 22925 231 2331 23417 23583 239 240 246 249 2538 2539 2542 2571 2572 2588 2597 2619 2645 26503 2673 27036 2717 27293 2739 28 2878 29071 3037 3038 308 31 32 3251 3291 3339 3340 3383 353 3554 3635 3931 3956 3958 3965 3990 4056 4069 410 412 4153 417 4191 4669 4684 4758 4952 4968 5048 5067 5091 51196 51548 5167 5294 5310 5311 5315 5319 5320 5329 55247 5563 55711 56052 5648 56623 56913 5728 5730 5742 5743 5973 60481 6319 6382 6383 6385 6389 6390 6391 6392 6401 6402 6403 64131 64132 6441 6514 6523 6614 6646 6652 6783 6916 7108 7367 7369 7412 78989 7903 7941 79679 811 847 8526 8877 9104 9197 9365 9415 952 9536 960 962 9663 972	Homo sapiens (human)
DOID:1440	Machado-Joseph disease Aliases: Azorean disease MJD SCA3 spinocerebellar ataxia 3 spinocerebellar ataxia type 3	ARSB GFPT1 GFPT2 PLA2G2A	2673 411 5320 9945	Homo sapiens (human)
DOID:0080718	GNE myopathy Aliases: Distal myopathy, Nonaka type Hereditary Inclusion Body Myopathy Nonaka myopathy inclusion body myopathy 2	GNE	10020	Homo sapiens (human)
DOID:5444	spiradenoma Aliases: Eccrine spiradenoma Eccrine spiradenoma of skin benign eccrine spiradenoma	LYZ	4069	Homo sapiens (human)
DOID:0060810	syndromic X-linked intellectual disability type 10 Aliases: HSD10 deficiency, atypical type HSD10 disease, atypical type MRXS10 X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome mental retardation, X-linked syndromic 10	ACADSB ACAT2 ALG13 ARSA B3GALNT2 CACNA2D2 DHCR7 GM2A LMAN2L MAN1B1 MBOAT7 MECR MYORG NDST1 NGLY1 PGAP1 PIGC PLA2G6 PRNP PSAP SMUG1 ST3GAL3 TECR TUSC3	11253 148789 1717 23583 2760 3340 36 39 410 51102 5279 55768 5621 5660 57462 6487 79143 79868 7991 80055 81562 8398 9254 9524	Homo sapiens (human)
DOID:11830	myopia Aliases: near vision near-sightedness short-sightedness	ACOX1 ACSL4 AGK ALDH3A2 ATP6V0A2 B3GALNT2 B3GALT6 B3GLCT CHST14 COL9A2 DAG1 DCN ENPP1 FKRP FKTN FMOD GLUL GMPPB GNPTG GPAA1 GPD2 HADHA HAS2 HS6ST2 HSPG2 LARGE1 LPIN2 NTM NYX PCYT1A PIK3CA PIK3CG PLOD3 PMM2 POMGNT1 POMK POMT1 POMT2 PSMD10 PTEN PXYLP1 RPE SDHC SDHD SLC2A10 SMC3 TMTC3 VCAN XYLT1 XYLT2	10585 113189 126792 1298 145173 1462 148789 160418 1605 1634 2182 2218 224 2331 23545 2752 2820 29925 29954 3030 3037 3339 50863 51 5130 5167 5290 5294 5373 55624 55750 5716 5728 60506 6120 6391 6392 64131 64132 79147 81031 84197 84572 8733 8985 90161 9126 9215 92370 9663	Homo sapiens (human)
DOID:10792	chronic maxillary sinusitis Aliases: chronic antritis	NT5E	4907	Homo sapiens (human)
DOID:1496	echinococcosis Aliases: Echinococcosis of liver echinococcal disease hepatic echinococcosis hydatid disease hydatidosis liver echinococcus pulmonary echinococcosis	ABO CYP1A1	1543 28	Homo sapiens (human)
DOID:14042	bipolar I disorder	CACNA2D2 FADS1 FADS2 MACROD2 NCAN PARP10	140733 1463 3992 84875 9254 9415	Homo sapiens (human)
DOID:5757	endocervicitis	LGALS3 MSLN	10232 3958	Homo sapiens (human)
DOID:0050886	Troyer syndrome Aliases: SPG20 autosomal recessive spastic paraplegia 20 autosomal recessive spastic paraplegia Troyer type autosomal recessive spastic paraplegia type 20 childhood-onset spastic paraparesis with distal muscle wasting hereditary spastic paraplegia 20 spastic paraplegia 20 spastic paraplegia type 20	B4GALNT1 CYP2B6 CYP2U1 CYP39A1 CYP7B1 FAR1 GBA2 L1CAM MAG NT5E PCYT2 PLA2G6 PNPLA6 SELENOI SLC33A1 ST3GAL5	10908 113612 1555 2583 3897 4099 4907 51302 57704 5833 8398 84188 85465 8869 9197 9420	Homo sapiens (human)
DOID:4989	pancreatitis	ABO ACE ADH1B ADH1C ADH4 ADH5 AGPAT2 AKR1A1 AKR1B10 ALDH2 AMACR AMT AMY2A BCKDHA BCKDHB CAT CD14 CD38 CEACAM5 CEL CPTP CYP17A1 CYP1A1 CYP1B1 CYP24A1 CYP2E1 DBT FCGR3B FUT2 G6PC1 GPI GPIHBP1 HMGCL HPSE HTR2A ICAM1 ISYNA1 KL LEPR LGALS3 LPL MBL2 MMUT MTAP PCCA PCCB PIK3CA PIK3CB PIK3CD PIK3CG PLA2G2A PLA2G7 PLAUR PNLIP PNLIPRP2 PTEN PTGS2 QTRT1 REG1B SELE SELL SFTPD SIRT2 SLC17A5 SLC37A4 SMUG1 SPHK2 SRD5A2 ST8SIA4 SULF1 SULF2 TIGAR TLR2 TLR4 TM7SF2 UGT1A7 UMOD VCAM1	10327 1048 10555 1056 10855 125 126 127 128 1543 1545 1571 1586 1591 1629 1636 217 2215 22933 23213 23583 23600 2524 2538 2542 26503 275 279 28 2821 3155 3356 3383 338328 3953 3958 4023 4153 4507 4594 5095 5096 51477 5290 5291 5293 5294 5320 5329 5406 5408 54577 55959 56848 57016 57103 5728 5743 593 594 5968 6401 6402 6441 6716 7097 7099 7108 7369 7412 7903 7941 80772 81890 847 929 9365 952	Homo sapiens (human)
DOID:10486	intestinal atresia	SLC2A2 SLC2A5 SLC5A1	6514 6518 6523	Homo sapiens (human)

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