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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 **426 - 450** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism
DOID:2986	IgA glomerulonephritis Aliases: Berger's IgA or IgG nephropathy Focal Glomerulonephritis IgA nephropathy primary IgA nephropathy segmental glomerulonephritis	b4galt1 b4galt1l	550425 768123	Danio rerio (zebrafish)
DOID:0060733	junctional epidermolysis bullosa with pyloric atresia Aliases: Carmi syndrome JEB-PA epidermolysis bullosa junctionalis with pyloric atresia junctional epidermolysis bullosa-pyloric atresia syndrome	GALK1	2584	Homo sapiens (human)
DOID:5409	lung small cell carcinoma	Pik3r1	18708	Mus musculus (house mouse)
DOID:0060833	Griscelli syndrome type 2 Aliases: GS2 Griscelli syndrome with hemophagocytic syndrome Griscelli-Prunieras syndrome type 2 PAID syndrome hypopigmentation-immunodeficiency with or without neurologic impairment syndrome partial albinism and immunodeficiency syndrome	GLUL IDS	2752 3423	Homo sapiens (human)
DOID:0110338	osteogenesis imperfecta type 17 Aliases: OI17 osteogenesis imperfecta type XVII	ALPL BAAT CD38 CD44 DCN PNPLA2 PTGS2 SMPD3	1634 249 55512 570 57104 5743 952 960	Homo sapiens (human)
DOID:2754	glycogen storage disease VI Aliases: Glycogen storage disease 6 Hers' disease glycogen storage disease type VI hepatic glycogen phosphorylase deficiency hepatophosphorylase deficiency glycogenosis	GPH1	856289	Saccharomyces cerevisiae S288C
DOID:8778	Crohn's disease Aliases: Crohn disease Crohn's disease of colon Crohn's disease of large bowel Granulomatous Colitis Pediatric Crohn's disease	ugt-61	185500	Caenorhabditis elegans
DOID:0080571	congenital disorder of glycosylation Iu Aliases: congenital disorder of glycosylation 1u	Dpm2	29640	Rattus norvegicus (Norway rat)
DOID:0081419	childhood-onset dystonia with optic atrophy and basal ganglia abnormalities Aliases: DYSTONIA 29, CHILDHOOD-ONSET DYTOABG MECR-related neurologic disorder MEPAN syndrome Mitochondrial Enoyl CoA Reductase Protein-Associated Neurodegeneration	MECR	51102	Homo sapiens (human)
DOID:0060653	lethal congenital contracture syndrome 3 Aliases: Israeli Bedouin type B multiple contracture syndrome	PIP5K1C	23396	Homo sapiens (human)
DOID:0060108	brain glioma Aliases: lower grade glioma	Gapdh	14433	Mus musculus (house mouse)
DOID:9409	diabetes insipidus	ACOT8 ACSS2 ATP6AP2 CRYL1 CYP2E1 GLA GLB1 H6PD HAS2 MBL2 OCRL PIK3CA PIK3CB PIK3CD PIK3CG PLA2G15 PRPS1 PTEN	10005 10159 1571 23659 2717 2720 3037 4153 4952 51084 5290 5291 5293 5294 55902 5631 5728 9563	Homo sapiens (human)
DOID:0050852	limb ischemia	kdn	31579	Drosophila melanogaster (fruit fly)
DOID:0110959	Gaucher's disease type III Aliases: GD III Gaucher Disease, Chronic Neuronopathic Type Gaucher Disease, Juvenile And Adult, Cerebral Gaucher Disease, Subacute Neuronopathic Type	Gba1	14466	Mus musculus (house mouse)
DOID:2671	transitional cell carcinoma Aliases: transitional carcinoma transitional cell tumor urothelial cell carcinoma	ABO B3GNT2 BST2 CD44 CD74 CEACAM5 CEACAM7 CHGA CHI3L1 CMAS CYP1B1 CYP2E1 DCN DHCR24 EFNA1 FASN GPX1 GPX2 HAS3 HMMR HPGDS IDH2 ISYNA1 L1CAM LARGE2 LGALS1 LGALS3 LGALS4 LGALS9 MMUT MRC1 NCAM1 NEU1 OGG1 PIK3CA PIK3CB PIK3CD PIK3CG PIKFYVE PLA2G4A PLAUR PTEN PTGES PTGS2 RECK SDC1 SIRT6 SLC3A2 SMUG1 SULF1 TFF1 TM7SF2 TNKS TP53 TYMP UGT2B7 UPP2	1048 10678 1087 1113 1116 120071 151531 1545 1571 1634 1718 1890 1942 200576 2194 23213 23583 27306 28 2876 2877 3038 3161 3418 3897 3956 3958 3960 3965 4360 4594 4684 4758 4968 51477 51548 5290 5291 5293 5294 5321 5329 55907 5728 5743 6382 6520 684 7031 7108 7157 7364 8434 8658 9536 960 972	Homo sapiens (human)
DOID:0050770	polycystic liver disease Aliases: congenital cystic liver disease congenital hepatic cyst fibrocystic liver disease	ALG8 ALG9 GANAB LRP5 PKD1 PKD2 PRKCSH UCP2	23193 4041 5310 5311 5589 7351 79053 79796	Homo sapiens (human)
DOID:10223	dermatomyositis Aliases: Polymyositis with skin involvement dermatopolymyositis	Tlr2 Tlr4	21898 24088	Mus musculus (house mouse)
DOID:0080721	calvarial doughnut lesions with bone fragility	SGMS2	166929	Homo sapiens (human)
DOID:0110658	congenital myasthenic syndrome 15 Aliases: CMS15 congenital myasthenic syndrome 15 without tubular aggregates	Alg14	66789	Mus musculus (house mouse)
DOID:0081210	autosomal recessive intellectual developmental disorder 46	Ndst1	15531	Mus musculus (house mouse)
DOID:14067	Plasmodium falciparum malaria Aliases: Malaria fever, subtertian falciparum malaria malignant tertian fever	Abo2 Abo3 Abo G6pd Tnf	100301568 24377 24835 296504 65270	Rattus norvegicus (Norway rat)
DOID:0050570	congenital disorder of glycosylation type I	Alg12 Alg1 Alg9 Dolk Dpm1 Dpm3 Pmm2 gny wol xit	31623 34134 34409 35240 36856 3885575 39436 41191 42146 43031	Drosophila melanogaster (fruit fly)
DOID:0060480	left ventricular noncompaction Aliases: left ventricular hypertrabeculation	SDHA SDHD SLC39A8	6389 6392 64116	Homo sapiens (human)
DOID:0070256	congenital disorder of glycosylation type IId Aliases: CDG IId CDG2D CDGIId	beta4GalNAcTA	36585	Drosophila melanogaster (fruit fly)
DOID:0050475	Weill-Marchesani syndrome Aliases: GEMSS syndrome Marchesani-Weill Syndrome Mesodermal Dysmorphodystrophy, Congenital Spherophakia Brachymorphia Syndrome congenital mesodermal dystrophy	Tnf	21926	Mus musculus (house mouse)

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