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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 **976 - 1000** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism
DOID:0050579	glycogen storage disease XV Aliases: Glycogen storage disease 15 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency glycogen storage disease type XV	Gyg1	81675	Rattus norvegicus (Norway rat)
DOID:9870	galactosemia Aliases: Galactosaemia Galactose intolerance	Akr1b1 Gale Galm Galt	11677 14430 319625 74246	Mus musculus (house mouse)
DOID:0050453	lissencephaly	pomgnt1.L pomgnt1.S pomt1.S pomt2.L	108698684 108699937 414570 495292	Xenopus laevis (African clawed frog)
DOID:0060834	Griscelli syndrome type 3 Aliases: GS3 Griscelli-Prunieras syndrome type 3	IDS	3423	Homo sapiens (human)
DOID:5394	prolactinoma Aliases: PITUITARY ADENOMA, PROLACTIN-SECRETING Prolactinoma of Pituitary gland familial prolactinoma	Myc	24577	Rattus norvegicus (Norway rat)
DOID:0060585	Noonan syndrome 7 Aliases: NS7	Braf	109880	Mus musculus (house mouse)
DOID:3369	Ewing sarcoma Aliases: Ewing's family localized tumor Ewing's sarcoma/peripheral primitive neuroectodermal tumor Ewing's tumor Ewings sarcoma Ewings sarcoma-primitive neuroectodermal tumor PNET of Thoracopulmonary Region localized Ewing sarcoma localized Ewing's sarcoma localized Ewing's sarcoma/peripheral primitive neuroectodermal tumor localized Ewing's tumor localized peripheral primitive neuroectodermal tumor peripheral primitive neuroectodermal tumor	ABO ACSS2 AMACR ASAH1 B3GAT1 CD248 CD38 CEACAM5 CHGA CYP2C8 ENO2 GAPDH HMMR HPRT1 KLRK1 LDHA MRC1 MTAP NAMPT NCAM1 NPL PAFAH1B1 PARP1 PGP PIK3CA PIK3CB PIK3CD PIK3CG PLA2G15 PTEN PTGS2 SMUG1 XYLT2	10135 1048 1113 142 1558 2026 22914 23583 23600 23659 2597 27087 28 283871 3161 3251 3939 427 4360 4507 4684 5048 5290 5291 5293 5294 55902 57124 5728 5743 64132 80896 952	Homo sapiens (human)
DOID:0090064	familial cold autoinflammatory syndrome 3	PLCG2	5336	Homo sapiens (human)
DOID:0110029	alpha thalassemia-intellectual disability syndrome type 1 Aliases: ATR syndrome linked to chromosome 16 ATR syndrome, deletion type ATR-16 syndrome alpha thalassemia-intellectual disability syndrome, deletion type alpha thalassemia-retardation syndrome alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 alpha-thalassemia/mental retardation syndrome, deletion-type alpha-thalassemia/mental retardation syndrome, type 1	COL9A2 G6PD PGD PKD1 UGT1A10 UGT1A1 UGT1A4 UGT1A6 UGT1A7 UGT1A8 VCAM1	1298 2539 5226 5310 54575 54576 54577 54578 54657 54658 7412	Homo sapiens (human)
DOID:0110242	cataract 13 with adult i phenotype Aliases: CTRCT13	gcnt2.2.L gcnt2.2.S	432177 432275	Xenopus laevis (African clawed frog)
DOID:3108	ascaridiasis	CAT CHIT1 CYP1A1 SIGLEC1	1118 1543 6614 847	Homo sapiens (human)
DOID:1699	obsolete congenital ichthyosiform erythroderma	ACE ADH5 ALDH3A1 ALDH3A2 ALOX12B AMY2B CD44 CERS3 COG7 DGAT1 EBP ELOVL4 FCER2 GBA1 HSD17B6 LPIN2 MPDU1 MRC1 NSDHL PIGA PNPLA2 PNPLA6 PRSS8 SGPL1 STS SULT2B1	10682 10908 128 1636 204219 218 2208 224 242 2629 280 412 4360 50814 5277 5652 57104 6785 6820 8630 8694 8879 91949 9526 960 9663	Homo sapiens (human)
DOID:11983	Prader-Willi syndrome Aliases: Prader Willi syndrome	ACADS AMT ARSA ARSD B4GALT7 BAAT CAT CHPT1 CYP11A1 DAG1 DCN DHDDS FOLR1 GALNT14 GAPDH GCSH GHRL GLB1 GLDC GPI HSPG2 KL OGG1 PARP1 PGAM2 PIK3CA PIK3CB PIK3CD PIK3CG PRNP PTEN SGPL1 SMC3 STS TNKS XYLT2	11285 142 1583 1605 1634 2348 2597 2653 2720 2731 275 2821 3339 35 410 412 414 4968 51738 5224 5290 5291 5293 5294 5621 56994 570 5728 64132 79623 79947 847 8658 8879 9126 9365	Homo sapiens (human)
DOID:9970	obesity	Adipoq Akt2 Aldh1a1 Apod Bad Comt Cpt1a Enpp1 G6pd2 G6pdx Gapdh Gck Hk1 Hk2 Htr2a Inppl1 Lep Lepr Myc Nampt Neil1 Npy1r Pdx1 Pgf Pik3r1 Ppara Ppargc1a Prkaa1 Rbp4 Serpina12 Sirt6 Tcf7l2 Tlr4 Tnf Ucp2 Wdtc1	103988 105787 11450 11652 11668 11815 12015 12846 12894 14380 14381 14433 15275 15277 15558 16332 16846 16847 17869 18166 18605 18609 18654 18708 19013 19017 19662 21416 21898 21926 22228 230796 50721 59027 68054 72774	Mus musculus (house mouse)
DOID:0050834	CHARGE syndrome Aliases: CHARGE association	GALNT3 TP53	2591 7157	Homo sapiens (human)
DOID:9119	acute myeloid leukemia Aliases: AML - acute Myeloid Leukemia Leukemia, Myelocytic, acute acute myeloblastic leukaemia acute myeloblastic leukemia acute myelogenous leukaemia acute myelogenous leukemia acute myeloid leukaemia	Chi3l1 Gpi1 Idh1 Idh2 Trp53	12654 14751 15926 22059 269951	Mus musculus (house mouse)
DOID:0050524	maturity-onset diabetes of the young Aliases: MODY Mason-type diabetes	ins	30262	Danio rerio (zebrafish)
DOID:0080476	peroxisome biogenesis disorder 1A Aliases: peroxisome biogenesis disorder 1A (Zellweger)	ACOX2 AGPS CAT GNPAT GPD1 HSD17B4 HSD17B7 PAFAH1B1	2819 3295 5048 51478 8309 8443 847 8540	Homo sapiens (human)
DOID:0111442	optic atrophy 9 Aliases: OPA9	ACO1	851013	Saccharomyces cerevisiae S288C
DOID:12030	panuveitis Aliases: Diffuse uveitis	ACAN ACE AKR1B1 CD14 CYP24A1 CYP27B1 EXTL3 ICAM1 IL1RAP MICA OVGP1 PIK3CA PIK3CB PIK3CG PLA2G15 RPE RTN4R SMUG1 TM7SF2 VCAN VTCN1	100507436 1462 1591 1594 1636 176 2137 231 23583 23659 3383 3556 5016 5290 5291 5294 6120 65078 7108 79679 929	Homo sapiens (human)
DOID:916	liver benign neoplasm Aliases: epithelial hepatic and intrahepatic bile duct neoplasm	aldob	321664	Danio rerio (zebrafish)
DOID:0111231	congenital muscular dystrophy-dystroglycanopathy type A8 Aliases: MDDGA8 Walker-Warburg syndrome or muscle-eye-brain disease GTDC2-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A8	pomgnt2	496628	Xenopus tropicalis (tropical clawed frog)
DOID:0050465	Muir-Torre syndrome	MRC1 MUTYH	4360 4595	Homo sapiens (human)
DOID:0110387	retinitis pigmentosa 9 Aliases: RP9	LPIN1	23175	Homo sapiens (human)
DOID:1679	cystitis	Tnf	24835	Rattus norvegicus (Norway rat)

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