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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 **1126 - 1150** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▼
DOID:2531	hematologic cancer Aliases: Hematologic malignancy Hematologic neoplasm Hematological tumors blood cancer hematopoietic and lymphoid system tumor hematopoietic cancer hematopoietic neoplasm hematopoietic tumors malignant hematopoietic neoplasm	A4GALT ABAT ABO ACE ACSL5 ACSL6 ALPI ALPP CALR CD109 CD22 CD38 CD44 CD74 CEACAM5 CEACAM7 CEL CERS6 CHI3L1 CHKA CHST9 COG1 CYP2B6 CYP2C19 CYP2J2 EBP FCGR3B FOLR2 FUT1 G6PD GPI HPGDS ICAM1 IDH1 IDH2 INPP5D KL KLRC1 LGALS3 LPL MICA MRC1 MSLN NCAM1 PAFAH1B1 PARP1 PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PIP4K2A PNP PPP1R3A PRKAA2 PTEN PTGS2 RECK SDC1 SELP SFTPA1 SIRT6 SOAT1 SPACA3 SPHK2 TP53 UGCG UGT1A4 UGT2B17	100507436 10232 1048 1056 10682 1087 1116 1119 124912 135228 142 1555 1557 1573 1636 18 2215 23305 2350 248 250 2523 253782 2539 27306 28 2821 3383 3417 3418 3635 3821 3958 4023 4360 4684 4860 5048 5130 51548 51703 5290 5291 5293 5294 5305 53947 54657 5506 5563 56848 5728 5743 6382 6403 653509 6646 7157 7357 7367 811 83539 8434 933 9365 9382 952 960 972	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:3329	benign epilepsy with centrotemporal spikes Aliases: BCECTS benign Rolandic epilepsy benign childhood epilepsy with centrotemporal spike rolandic epilepsy sylvan seizures	ARSA ASAH1 EPM2A MDGA2 PLCB1	161357 23236 410 427 7957	Homo sapiens (human)	DisGeNET DisGeNET
DOID:13461	urethral intrinsic sphincter deficiency Aliases: Intrinsic (urethral) sphincter deficiency [ISD]	ACOT7	11332	Homo sapiens (human)	DisGeNET
DOID:2401	clitoris cancer Aliases: Clitoral Ca carcinoma of Clitoris clitoral cancer malignant neoplasm of clitoris malignant tumor of Clitoris	ABO PTEN PTGS2 SMUG1	23583 28 5728 5743	Homo sapiens (human)	DisGeNET
DOID:0050431	arrhythmogenic right ventricular cardiomyopathy Aliases: ARVC ARVC cardiomyopathy ARVD arrhythmogenic right ventricular dysplasia arrhythmogenic right ventricular dysplasia/cardiomyopathy right ventricular ACM	FASN GNPTAB HACD1 IL18R1 PIK3CA PIK3CB PIK3CD PIK3CG	2194 5290 5291 5293 5294 79158 8809 9200	Homo sapiens (human)	DisGeNET
DOID:0050570	congenital disorder of glycosylation type I	ALG11 ALG12 ALG13 ALG1 ALG1L2 ALG2 ALG3 ALG5 ALG6 ALG8 ALG9 ATP6V0A2 COG1 COG4 COG8 DDOST DOLK DPAGT1 DPM1 DPM2 DPM3 MAN1A1 MAN1B1 MOGS MPDU1 MPI OGA PGM1 PMM1 PMM2 RFT1 SLC35A2 SLC39A8 SRD5A3 STT3A	10195 10724 11253 1650 1798 22845 23545 25839 29880 29929 3703 4121 4351 440138 5236 5372 5373 54344 56052 64116 644974 7355 7841 79053 79087 79644 79796 79868 84342 85365 8813 8818 91869 9382 9526	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:4853	pilocytic astrocytoma of cerebellum Aliases: Cerebellar Pilocytic astrocytoma	IDH1	3417	Homo sapiens (human)	DisGeNET
DOID:3073	brain glioblastoma multiforme Aliases: Glioblastoma multiforme of brain brain Glioblastoma	CLEC5A NCAM1	23601 4684	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:10541	microinvasive gastric cancer Aliases: Surface gastric cancer early gastric cancer	ACE CD44 CEACAM5 CEACAM7 FASN L1CAM MDGA2 PTEN PTGS2 SMUG1	1048 1087 161357 1636 2194 23583 3897 5728 5743 960	Homo sapiens (human)	DisGeNET
DOID:0060281	photosensitive epilepsy Aliases: photogenic epilepsy photoparoxysmal response	CYP27A1 DHCR7 EPM2A FDPS KDSR	1593 1717 2224 2531 7957	Homo sapiens (human)	DisGeNET DisGeNET
DOID:12217	Lewy body dementia Aliases: Dementia with Lewy bodies Diffuse Lewy body disease Lewy body disease Senile dementia of the Lewy body type	ACE ACHE ANXA5 ASAH1 CHI3L1 COMT CYP2B6 DLD ENO2 EPHX2 GBA1 IGF2 IGF2R IMPA1 LGALS3 MAG MASP1 OGA PCNA PDHA1 PLA2G6 PLCG2 PRNP PTGS2 SMUG1 SUCLA2 TIGAR VCAM1	10724 1116 1312 1555 1636 1738 2026 2053 23583 2629 308 3481 3482 3612 3958 4099 427 43 5111 5160 5336 5621 5648 57103 5743 7412 8398 8803	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:0070114	Niemann-Pick disease type C2 Aliases: NPC2	GBA1	2629	Homo sapiens (human)	DisGeNET
DOID:0090111	PCWH syndrome Aliases: Neurologic Waardenburg-Shah syndrome PCWH Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Hirschsprung disease-Waardenburg syndrome	GBA1	2629	Homo sapiens (human)	DisGeNET
DOID:0060789	hypomyelinating leukodystrophy 4 Aliases: HLD4 MitCHAP60 disease Pelizaeus-Merzbacher-like disease due to HSPD1 mutation mitochondrial HSP60 chaperonopathy	GBA1	2629	Homo sapiens (human)	DisGeNET
DOID:0060798	hypomyelinating leukodystrophy 6 Aliases: H-ABC HABC HLD6 hypomyelinating leukodystrophy with atrophy of the basal ganglia and cerebellum hypomyelination with atrophy of basal ganglia and cerebellum	GBA1	2629	Homo sapiens (human)	DisGeNET
DOID:0060790	hypomyelinating leukodystrophy 3 Aliases: HLD3 Pelizaeus-Merzbacher-like disease due to AIMP1 mutation	GBA1	2629	Homo sapiens (human)	DisGeNET
DOID:0060791	hypomyelinating leukodystrophy 9 Aliases: HLD9 RARS-related autosomal recessive hypomyelinating leukodystrophy	GBA1	2629	Homo sapiens (human)	DisGeNET
DOID:0060868	leukoencephalopathy with vanishing white matter Aliases: CACH CACH/VWM childhood ataxia with central nervous system hypomyelination vanishing white matter leukodystrophy	ACOT12 APRT CHST11 GBA1 HAS2 MICA SCP2 SOAT1	100507436 134526 2629 3037 353 50515 6342 6646	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0060787	hypomyelinating leukodystrophy 2 Aliases: HLD2 PMLD1 Pelizaeus-Merzbacher-like disease 1 Pelizaeus-Merzbacher-like disease due to GJC2 mutation	GBA1 PI4KA	2629 5297	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0090126	branched-chain keto acid dehydrogenase kinase deficiency Aliases: BCKDK deficiency BCKDKD autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency	MMUT	4594	Homo sapiens (human)	DisGeNET
DOID:0060743	methylmalonic acidemia cblB type Aliases: methylmalonic aciduria cblB type methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type	MMUT	4594	Homo sapiens (human)	DisGeNET
DOID:0060742	methylmalonic acidemia cblA type Aliases: methylmalonic aciduria cblA type methylmalonic aciduria, vitamin B12-responsive due to a defect in synthesis of adenosylcobalamin cb1A type	MMUT	4594	Homo sapiens (human)	DisGeNET
DOID:0060741	methylmalonic acidemia due to transcobalamin receptor defect Aliases: methylmalonic acidemia, TCblR type methylmalonic aciduria due to transcobalamin receptor defect	MMUT	4594	Homo sapiens (human)	DisGeNET
DOID:0060740	methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Aliases: methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency methylmalonic aciduria mut type vitamin B12-unresponsive methylmalonic aciduria	MAN2B1 MMUT	4125 4594	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:1795	malignant exocrine pancreas neoplasm Aliases: malignant neoplasm of the Exocrine pancreas malignant tumor of exocrine pancreas malignant tumour of exocrine pancreas	ABO PC	28 5091	Homo sapiens (human)	DisGeNET

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