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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB) and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	January 28, 2025
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **101 - 125** of **5716** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:0060806	syndromic X-linked intellectual disability Hedera type Aliases: MRXE MRXSH X-linked mental retardation with epilepsy mental retardation, X-linked, syndromic, Hedera type	ARX ATP6AP2	10159 170302	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050571	congenital disorder of glycosylation type II	ALG2 ATP6AP2 COG3 EDEM3 GALNT2 SLC37A4	10159 2542 2590 80267 83548 85365	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0112105	X-linked parkinsonism-spasticity syndrome Aliases: X-linked Parkinsonism with spasticity XPDS	ATP6AP2	10159	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110705	hypotrichosis 8 Aliases: HYPT8 LAH3 hypotrichosis, localized, autosomal recessive 3	LPAR6	10161	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070341	neonatal-onset type II citrullinemia Aliases: neonatal-onset type 2 citrullinemia	SLC25A13	10165	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070342	adult-onset type II citrullinemia Aliases: citrin deficiency	SLC25A13	10165	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050560	Walker-Warburg syndrome Aliases: HARD syndrome cerebroocular dysplasia-muscular dystrophy syndrome	b4gat1 rxylt1	101669768 557187	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0080556	congenital disorder of glycosylation Id Aliases: congenital disorder of glycosylation 1d	ALG3	10195	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0060258	reticulate acropigmentation of Kitamura Aliases: RAPK	ADAM10	102	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110050	Alzheimer's disease 18 Aliases: AD18 Alzheimer disease 18 Alzheimer's disease 18, late onset	ADAM10	102	Homo sapiens (human)	Alliance of Genome Resources
DOID:10652	Alzheimer's disease Aliases: Alzheimer disease Alzheimers dementia	A2M ABAT ABCA1 ACHE ADAM17 ADRA1A ADRB3 AGER AGTR1 ALDH2 APBB1 APOA1 APOA4 APOE APP BACE1 BACE2 BCHE BDNF C2 C3 CASP7 CDK5 CHAT CLOCK CTSD CYP19A1 CYP46A1 DLST ECE1 EIF2AK2 EIF2S1 ENO1 EPO ESR1 FAS GAPDH GAPDHS GCG GLUL GRIN2B GRN GSK3B GSTO1 GSTO2 HFE HLA-DRB1 HMGCR HSPA1A HSPA1B ICAM1 IGFBP3 IL10 IL1A IL2 IL4 IL6R IREB2 IRS1 KCNMA1 KLK6 LDLR LIPC LPL LRP1 LRP8 LRPAP1 MAOA MAPT MBL2 MCM2 MME NCSTN NECTIN2 NEFM NFE2L2 NGFR NOS1 NOS3 NTF3 NTRK1 NTRK2 PARP1 PCK1 PLAU PON1 PON2 PON3 PPARA PPARG SERPINE2 SNCA SOD2 SORL1 STAT3 TFAM TLR4 TNF TPH1 TTR UQCRC1 VEGFA VLDLR XRN1	1020 10858 1103 119391 142 148 1509 155 1588 1743 177 18 185 1889 19 1965 2 2023 2056 2099 217 23385 23621 25825 2597 26330 2641 2752 2896 2904 2932 3077 3123 3156 322 3303 3304 335 337 3383 348 3486 351 355 3552 3558 3565 3570 3586 3658 3667 3778 3949 3990 4023 4035 4043 4128 4137 4153 4171 43 4311 4741 4780 4804 4842 4846 4908 4914 4915 5105 5270 5328 5444 5445 5446 54464 5465 5468 5610 5653 5819 590 627 6622 6648 6653 6774 6868 7019 7099 7124 7166 717 718 7276 7384 7422 7436 7804 840 9446 9575	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112231	lissencephaly 7 with cerebellar hypoplasia Aliases: LIS7	CDK5	1020	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050580	hereditary lymphedema	ANGPT2 CALCRL CELSR1 PIEZO1 THSD1 TIE1	10203 285 55901 7075 9620 9780	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111640	autosomal recessive nonsyndromic deafness 111 Aliases: DFNB111 autosomal recessive deafness 111	MPZL2	10205	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111041	glycogen storage disease IXb Aliases: GSD IXb GSD due to liver and muscle phosphorylase kinase deficiency GSD type 9B GSD type IXb GSD9B glycogen storage disease type 9B glycogen storage disease type IXb glycogenosis due to liver and muscle phosphorylase kinase deficiency glycogenosis type 9B glycogenosis type IXb	Phkb	102093	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1787	pericarditis	PRG4	10216	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090127	camptodactyly-arthropathy-coxa vara-pericarditis syndrome Aliases: CACP CACP syndrome CAP syndrome Jacobs syndrome PAC syndrome arthropathy-camptodactyly syndrome camptodactyly-arthropathy-pericarditis syndrome congenital familial hypertrophic synovitis familial fibrosing serositis pericarditis-arthropathy-camptodactyly syndrome	PRG4	10216	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070418	vertebral hypersegmentation and orofacial anomalies Aliases: VHO	GDF11	10220	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111581	C syndrome Aliases: OTCS Opitz C trigonocephaly Opitz trigonocephaly C syndrome Opitz trigonocephaly syndrome trigonocephaly C syndrome	CD96	10225	Homo sapiens (human)	Alliance of Genome Resources
DOID:3587	pancreatic ductal carcinoma Aliases: malignant neoplasm of duct of Wirsung pancreatic duct cancer	CD40 FASLG HEATR1 IL4 MDM2 MGMT MSLN MUC1 PMS1 SMO THBS1	10232 356 3565 4193 4255 4582 5378 55127 6608 7057 958	Homo sapiens (human)	Alliance of Genome Resources
DOID:26	pancreas disease	MSLN	10232	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111051	platelet-type bleeding disorder 18 Aliases: BDPLT18 bleeding disorder due to CalDAG-GEFI deficiency bleeding disorder due to calcium- and DAG-regulated guanine exchange factor-1 deficiency	RASGRP2	10235	Homo sapiens (human)	Alliance of Genome Resources
DOID:655	inherited metabolic disorder Aliases: Inborn Errors of Metabolism Metabolic hereditary disorder inborn metabolism disorder	BCHE GPHN HSD11B2 LIG1 MMAB NDUFS1 NDUFS2 SLC22A5 SLC25A19	10243 326625 3291 3978 4719 4720 590 60386 6584	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111166	molybdenum cofactor deficiency type C Aliases: MOCOD type C MOCODC combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type C molybdenum cofactor deficiency complementation group C	GPHN	10243	Homo sapiens (human)	Alliance of Genome Resources
DOID:2986	IgA glomerulonephritis Aliases: Berger's IgA or IgG nephropathy Focal Glomerulonephritis IgA nephropathy primary IgA nephropathy segmental glomerulonephritis	ACE ACSM3 ADD1 ADD2 AGTR2 CD14 CFB CHGA CXCR2 FCAR FCGR3A HLA-DQB1 IGF1R IL1RN MTR MUC20 NGF PDE5A PLA2G7 SELE SELL SERPINB7 SPRY2 STAT4 TLR1 TLR9 TNFRSF1A TNFRSF1B	10253 1113 118 119 1636 186 200958 2204 2214 3119 3480 3557 3579 4548 4803 54106 629 6296 6401 6402 6775 7096 7132 7133 7941 8654 8710 929	Homo sapiens (human)	Alliance of Genome Resources

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