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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 **4651 - 4675** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:1996	rectum adenocarcinoma Aliases: Rectal adenocarcinoma	EEF2 KDM6A SLC7A5 STAT3 STAT4 STAT6	1938 6774 6775 6778 7403 8140	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111074	progressive familial heart block type IA Aliases: PFHB1A	SCN5A	6331	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080187	chronic neutrophilic leukemia	CSF3R	1441	Homo sapiens (human)	Alliance of Genome Resources
DOID:0002116	pterygium Aliases: surfer's eye	W01F3.2 ver-1 ver-4 zmp-4	175182 179991 180351 186632	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0060308	autosomal recessive intellectual developmental disorder Aliases: autosomal recessive mental retardation autosomal recessive non-syndromic mental retardation	Cntnap1 Cntnap2 Cntnap4 Cntnap5a Cntnap5b Cntnap5c Tpr Zc3h14	108989 170571 241175 53321 620292 636808 66797 75553	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:8970	subacute sclerosing panencephalitis Aliases: Immunosuppressive measles encephalitis Van Bogaert's sclerosing leukoencephalitis subacute sclerosing leukoencephalopathy	Acer Ance	34189 34805	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0060450	Lisch epithelial corneal dystrophy Aliases: LECD band-shaped and whorled microcystic	cup-5	176074	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0080690	RASopathy Aliases: RAS/mitogen-activated protein kinase syndrome	Map2k2	58960	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111412	exudative vitreoretinopathy 1 Aliases: EVR1	fz4	31659	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0060680	pigment dispersion syndrome Aliases: glaucoma-related pigment dispersion syndrome pigment-dispersion type glaucoma	cle-1	172678	Caenorhabditis elegans	Alliance of Genome Resources
DOID:2799	bronchiolitis obliterans Aliases: Bronchiolitis exudativa Bronchiolitis fibrosa obliterans Obliterative bronchiolitis	ACE CCL2 CCL5 CCL7 CD86 CSF2 EDN1 GZMB IL13 IL1RN IL4 MBL2 MMP9 MUC1 NOD2 NOS2 NOS3 SFTPD TLR9	1437 1636 1906 3002 3557 3565 3596 4153 4318 4582 4843 4846 54106 6347 6352 6354 64127 6441 942	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110766	hereditary spastic paraplegia 13 Aliases: SPG13 autosomal dominant spastic paraplegia 13	Hspd1	15510	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:423	myopathy	ced-1 cle-1 clh-1 let-2	172678 173064 174821 181708	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0060496	respiratory allergy Aliases: airway allergy	Tl	43222	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0110501	autosomal recessive nonsyndromic deafness 44 Aliases: DFNB44 autosomal recessive deafness 44	ADCY1	107	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110157	Charcot-Marie-Tooth disease type 2J Aliases: CMT2J Charcot-Marie-Tooth disease type 2 with hearing loss and pupillary abnormalities Charcot-Marie-Tooth neuropathy type 2J	MPZ	4359	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070483	Watson syndrome	Nf1	18015	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070418	vertebral hypersegmentation and orofacial anomalies Aliases: VHO	Gdf11 Mstn	29152 29454	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111313	idiopathic generalized epilepsy 12 Aliases: EIG12	Slc2a1	20525	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:13365	reading disorder	CNTNAP2	26047	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050453	lissencephaly	PMT2 PMT3 PMT4 PMT6	851210 853113 853608 854499	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0050477	Liddle syndrome Aliases: Liddle's syndrome Pseudoaldosteronism	asic-1 asic-2 deg-1 mec-10 mec-4 unc-105 unc-8	174306 177494 181035 181101 181728 189058 191422	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0111918	spermatogenic failure 40 Aliases: SPGF40	CFAP65	255101	Homo sapiens (human)	Alliance of Genome Resources
DOID:3526	cerebral infarction Aliases: CVA - Cerebral infarction Cerebral infarct	A2m Ace Adora1 Ager Agxt2 Apob Brinp3 Ephx2 F2 F5 F7 Folh1 Grin1 Gsn H2-D1 H2-Eb1 H2-K1 H2-M2 H2-Q10 H2-Q1 H2-Q2 H2-Q4 H2-Q6 H2-Q7 H2-T3 Hmgb1 Icam1 Ifnb1 Itga9 Itgam Kalrn Lipg Lta Map2 Myrf Park7 Pdx1 Phactr1 Pla2g7 Pon1 Pon2 Pros1 Rbp4 Serping1 Slc6a1 Thbd Tnf Tnfrsf11b Tomm40 Vim	104099 110557 11421 11539 11596 12258 13850 14061 14067 14068 14810 14964 14969 14972 14990 15006 15007 15013 15015 15018 15043 15289 15894 15977 16409 16891 16992 17756 18383 18609 18979 19128 19662 215378 218194 21824 21926 22352 225908 227753 232333 232345 238055 268782 27226 330260 53320 53333 545156 57320	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112378	muscular dystrophy-dystroglycanopathy type B3 Aliases: MDDGB3 congenital muscular dystrophy POMGNT1-related	Pomgnt1	68273	Mus musculus (house mouse)	Alliance of Genome Resources

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