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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 **13401 - 13425** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:0080887	vitamin D-dependent rickets type 1B	CYP2R1	120227	Homo sapiens (human)	Alliance of Genome Resources
DOID:4248	coronary stenosis Aliases: Coronary artery stenosis	CYP2R1 EDN1 IGF1R ITGAV MDK PECAM1 TNFRSF11B	120227 1906 3480 3685 4192 4982 5175	Homo sapiens (human)	Alliance of Genome Resources
DOID:11132	prostatic hypertrophy	Bad Cftr Clu Esr1 Fgf7 Fgf8 Igf1r Il13 Il3 Il5 Kdr Myc Pdgfb Pdgfd Ptgs2 Rela	12015 12638 12759 13982 14178 14179 16001 16163 16187 16191 16542 17869 18591 19225 19697 71785	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080855	Parkinsonism	Abcc8 Abcc9 Bad Bdnf COX1 Casp9 Cnr1 Comt Csf2 Drd2 Drd3 Egfr Eno2 Esr1 Gba1 Gdnf Gfra1 Gfra2 Gja1 Grm8 Gsk3a Gsr Hspa1a Hspa9 Kcnj11 Lyn Mapt Ngf Ngfr Ntrk1 Park7 Pde1b Ptgs2 Rela Ret Shh Slc11a2 Slc17a8 Slc6a3 Slc6a4 Src Th Tnfrsf1b Vdac1 Vip	12015 12064 12371 12801 12846 12981 13162 13489 13490 13649 13807 13982 14466 14573 14585 14586 14609 14782 14823 15526 15567 16514 17096 17708 17762 18049 18053 18174 18211 18574 19225 193740 19697 19713 20423 20779 20927 20928 216227 21823 21938 22333 22353 57320 606496	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3669	intermittent claudication Aliases: Charcot's syndrome	Agxt2 Bad Bax Sirt2	12015 12028 268782 64383	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110721	neuronal ceroid lipofuscinosis 1 Aliases: CLN1 neuronal ceroid lipofuscinosis 1 variable age of onset	CLN3 PPT1	1201 5538	Homo sapiens (human)	Alliance of Genome Resources
DOID:14503	neuronal ceroid lipofuscinosis Aliases: hereditary ceroid lipofuscinosis	ATP13A2 ATP13A3 ATP13A5 CLN3 CTSD PPT1 PPT2 SOD2 SPNS1 SPNS2	1201 124976 1509 23400 344905 5538 6648 79572 83985 9374	Homo sapiens (human)	Alliance of Genome Resources
DOID:1935	Bardet-Biedl syndrome	Arl6 Bbs9 Cep131 Tmem67	12009 319845 329795 56297	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:5517	stomach carcinoma Aliases: cancer of the stomach carcinoma of stomach gastric carcinoma	Atp6v1c1 Azgp1 Bcor Erbb2 Erbb3 Erbb4 Fgfr2 Kras Mdc1 Mmp1a Mmp2 Mmp9 Mutyh Rnf43 Slc3a2 Sparc Spint1 Tnfaip3	12007 13866 13867 13869 14183 16653 17254 17390 17395 20692 20732 207742 21929 240087 66335 70603 71458 83995	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081060	X-linked nephrogenic diabetes insipidus Aliases: nephrogenic diabetes insipidus type 1	Avpr2	12000	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112121	nephrogenic syndrome of inappropriate antidiuresis Aliases: NSIAD	Avpr2	12000	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110726	neuronal ceroid lipofuscinosis 2 Aliases: CLN2 neuronal ceroid lipofuscinosis 2 variable age at onset	TPP1	1200	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080059	autosomal recessive spinocerebellar ataxia 7 Aliases: SCAR7	TPP1	1200	Homo sapiens (human)	Alliance of Genome Resources
DOID:865	vasculitis Aliases: Angiitis	CAST IL10 MPO NOS3 SERPINA3	12 3586 4353 4846 831	Homo sapiens (human)	Alliance of Genome Resources
DOID:11949	Creutzfeldt-Jakob disease Aliases: CJD Creutzfeldt Jacob syndrome Creutzfeldt Jakob disease Creutzfeldt-Jacob disease Jakob-Creutzfeldt disease Subacute spongiform encephalopathy Transmissible virus dementia	GALC HLA-DQB1 MAPT NEFH NEFL PRNP PTGS1 PTGS2 SERPINA3 SNCA STX1A YWHAG	12 2581 3119 4137 4744 4747 5621 5742 5743 6622 6804 7532	Homo sapiens (human)	Alliance of Genome Resources
DOID:13141	uveitis	ACE ANXA1 AOC3 AQP1 AQP4 ASS1 CCL2 CCL5 CCR5 CD163 CX3CL1 GC HLA-A HLA-B HLA-DQA1 HLA-DQA2 HLA-DQB1 HLA-DQB2 HLA-DRB1 HSPA1L ICAM1 ICOS IFNG IFNGR1 IL10 IL13 IL17A IL1A IL23R IL2 IL6 IL6R LCN2 NR3C1 RELA SERPINA3 SERPINF1 SNCB TGFB1 TJP1 TLR4 TNF TNFRSF1A	12 1234 149233 1636 2638 2908 29851 301 3105 3106 3117 3118 3119 3120 3123 3305 3383 3458 3459 3552 3558 3569 3570 358 3586 3596 3605 361 3934 445 5176 5970 6347 6352 6376 6620 7040 7082 7099 7124 7132 8639 9332	Homo sapiens (human)	Alliance of Genome Resources
DOID:12388	neurohypophyseal diabetes insipidus Aliases: Pituitary diabetes insipidus Vasopressin deficiency vasopressin defective diabetes insipidus	Avp	11998	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110481	autosomal recessive nonsyndromic deafness 23 Aliases: DFNB23 autosomal recessive deafness 23	Pcdh15	11994	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110832	Usher syndrome type 1F Aliases: USH1F Usher syndrome type IF	Pcdh15	11994	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110831	Usher syndrome type 1D Aliases: USH1D Usher syndrome type ID	Cdh23 Pcdh15	11994 22295	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9455	lipid storage disease Aliases: Lipoid storage diseas inborn lipid storage disorder lipoidosis	Psap Psapl1 Slc7a3 Srebf1 Srebf2	11989 19156 20787 20788 76943	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111666	proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome Aliases: EPV Fowler syndrome Fowler vasculopathy PVHH cerebral proliferative glomeruloid vasculopathy encephaloclastic proliferative vasculopathy hydranencephaly, Fowler type hydrocephaly/hydranencephaly due to cerebral vasculopathy proliferative vasculopathy and hydranencephaly/hydrocephaly	Slc7a2 Slc7a3	11988 11989	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111272	occipital horn syndrome Aliases: EDS IX Ehlers-Danlos syndrome type 9 Ehlers-Danlos syndrome type IX X-linked cutis laxa	Atp7a	11977	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111196	X-linked distal spinal muscular atrophy 3 Aliases: ATP7A-related distal motor neuropathy DSMAX SMAX3 X-linked dHMN3 X-linked dSMA3 X-linked distal hereditary motor neuropathy type 3 X-linked recessive distal spinal muscular atrophy	Atp7a	11977	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:896	metal metabolism disorder Aliases: inborn metal metabolism disorder	Atp7a	11977	Mus musculus (house mouse)	Alliance of Genome Resources

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