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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	October 9, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **8401 - 8425** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:12800	mucopolysaccharidosis VI Aliases: MPS VI - Maroteaux-Lamy syndrome Maroteaux - Lamy syndrome Maroteaux-Lamy syndrome arylsulfatase B deficiency deficiency of N-acetylgalactosamine-4-sulfatase	Adamts5 Arsb Tnf Tnfsf11	11881 21926 21943 23794	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2696	Leydig cell tumor Aliases: Leydig cell neoplasm	pdgfa.S	397765	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0090116	spondylocarpotarsal synostosis syndrome Aliases: SCT congenital scoliosis with unilateral unsegmented bar congenital synspondylism spondylocarpotarsal syndrome spondylocarpotarsal synostosis vertebral fusion with carpal coalition	FLNB	2317	Homo sapiens (human)	Alliance of Genome Resources
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	Abcc3 Abcg2 Abl1 Asxl1 Calr Cbl Ccl2 Cd86 Cdh1 Cfhr1 Chi3l1 Csf2 Csf3 Csf3r Ctla4 Cxcr4 Cyp1a1 Dnmt1 Ephx1 Ezh2 F3 Fanca Fas Fermt2 Fgfr1 Flt3 Gpi1 Gpx1 Gsr H2-Ab1 Idh1 Idh2 Il10 Il1a Itgav Itgb3 Kit Kras Lpp Mllt10 Ncoa2 Nf1 Nos3 Npm1 Nup214 Nup98 Picalm Sh3gl1 Sod2 Tet2 Tfpi2 Tfr2 Tnfsf9 Top2a Top2b Trp53 Vegfa	11350 12317 12402 12477 12524 12550 12654 12767 12981 12985 12986 13076 13433 13849 14056 14066 14087 14102 14182 14255 14751 14775 14782 14961 15926 16153 16175 16410 16416 16590 16653 17354 17978 18015 18127 18148 20296 20405 20656 210126 214133 21789 218952 21950 21973 21974 22059 22339 227720 228790 233489 26357 269951 269966 50702 50765 76408	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070250	autosomal dominant Emery-Dreifuss muscular dystrophy 5 Aliases: EDMD5 Emery-Dreifuss muscular dystrophy 5, autosomal dominant	Msp300	3771968	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0110274	autosomal recessive limb-girdle muscular dystrophy	Hmgcr Jag2 Lama2 Poglut1 Pomt2 Popdc3	15357 16450 16773 217734 224143 78977	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110122	Axenfeld-Rieger syndrome type 3 Aliases: Axenfeld-Rieger anomaly with or without cardiac defects and/or sensorineural hearing loss RIEG3 Rieger syndrome type 3 anterior chamber cleavage syndrome anterior segment mesenchymal dysgenesis	dpp	33432	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0112259	Leydig cell hypoplasia Aliases: 46,XY DSD due to LH resistance or LHB deficiency 46,XY DSD due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency 46,XY disorder of sex development due to LH resistance or LHB deficiency 46,XY disorder of sex development due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency	Lhcgr	25477	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060173	Timothy syndrome	cacna1c.S	100462911	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:14768	Saethre-Chotzen syndrome	FGFR2 TWIST1 TWIST2	117581 2263 7291	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070514	neurodevelopmental disorder with dysmorphic facies and distal limb anomalies Aliases: NEDDFL	E(bx)	44811	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0110659	congenital myasthenic syndrome 7 Aliases: CMS7 congenital myasthenic syndrome 7 presynaptic	Syt1 Syt2	20979 20980	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112266	nephrotic syndrome type 23 Aliases: NPHS23	syg-1	180555	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0060720	autosomal recessive congenital ichthyosis 11 Aliases: IFAH syndrome IHS autosomal recessive ichthyosis with hypotrichosis hypotrichosis-congenital ichthyosis syndrome ichthyosis and follicular atrophoderma with hypotrichosis and hypohidrosis ichthyosis-follicular atrophoderma-hypotrichosis syndrome ichthyosis-follicular atrophoderma-hypotrichosis-hypohidrosis syndrome ichthyosis-hypotrichosis syndrome	St14	19143	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070209	hereditary lymphedema ID Aliases: LMPH1D	VEGFC	7424	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112180	urocanase deficiency Aliases: UROCD encephalopathy due to urocanase deficiency high urine urocanic acid levels urocanate hydratase deficiency urocanic aciduria	UROC1	131669	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080416	developmental and epileptic encephalopathy 32 Aliases: DEE32 early infantile epileptic encephalopathy 32	Kcna2	16490	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:305	carcinoma Aliases: epithelial cancer epithelioma malignant Epithelioma	Ctnnb1 Dlg1 Dlg2 Dlg4 Eda Egfr Erbb2 Erbb3 Erbb4 Fat4 Flt1 Flt3 Flt4 Ing1 Jup Kdr Kras Lats1 Lyn Pdgfra Prkci Prkcz S1pr2 Sall3 Sall4 Snai1 Src Tnfsf12 Wwtr1 Yap1 Yes1	12387 13383 13385 13607 13649 13866 13867 13869 14254 14255 14257 14739 16480 16542 16653 16798 17096 18595 18759 18762 20613 20689 20779 21944 22601 22612 23859 26356 329628 97064 99377	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070094	oculocutaneous albinism type IA Aliases: OCA1A Oculocutaneous Albinism, Tyrosinase-Negative	Tyr	22173	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:676	juvenile rheumatoid arthritis Aliases: Pauciarticular onset juvenile chronic arthritis Still's disease acute juvenile rheumatoid arthritis juvenile chronic polyarthritis juvenile idiopathic arthritis monarticular juvenile rheumatoid arthritis pauciarticular juvenile arthritis systemic juvenile rheumatoid arthritis	W01C8.5 lev-9 smf-1 smf-2 smf-3	177044 180836 180939 188252 191766	Caenorhabditis elegans	Alliance of Genome Resources
DOID:3320	Tay-Sachs disease Aliases: GM2 gangliosidosis, type 1 hexosaminidase A deficiency	HEXA	3073	Homo sapiens (human)	Glyco-Disease Genes Database Glyco-Disease Genes Database Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0050694	Brown-Vialetto-Van Laere syndrome	Slc52a2 Slc52a3	52710 69698	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2218	blood platelet disease Aliases: Thrombocytopathy platelet disorder	Itgb3 Tbxa2r	24816 29302	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:14227	azoospermia	BSCL2 CDC34 CDC42BPA CDC42BPB CDC42BPG ISYNA1 NDST1 NDST2 NDST3 NDST4 PTPRD PTPRF PTPRS RBBP4 SCAPER SNRPA1 UBE2R2	26580 3340 49855 51477 54926 55561 5789 5792 5802 5928 64579 6627 8476 8509 9348 9578 997	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050884	triosephosphate isomerase deficiency Aliases: Triose phosphate-isomerase deficiency	TPI1	7167	Homo sapiens (human)	Alliance of Genome Resources

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