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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 **3826 - 3850** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0060071	pre-malignant neoplasm	ACE ATM BAX CASP9 FAS GLI1 GLI3 INSR MAPK9 MUC2 PPM1D SFTPD SHH SMAD4 SMO STAT3 TP53	1636 2735 2737 355 3643 4089 4583 472 5601 581 6441 6469 6608 6774 7157 842 8493	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070441	retinal macular dystrophy 4 Aliases: MCDR4	CLEC3B	7123	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050426	Stevens-Johnson syndrome	CLU HLA-A HLA-B HLA-DQB1 TNF	1191 3105 3106 3119 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050650	familial atrial fibrillation Aliases: ATFB	ABCC9 KCNE2 KCNQ1 NPPA NUP155 SCN1B SCN2B SCN5A ZFHX3	10060 3784 463 4878 6324 6327 6331 9631 9992	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070243	primary coenzyme Q10 deficiency 6 Aliases: COQ10D6 coenzyme Q10 deficiency, primary, 6 familial steroid-resistant nephrotic syndrome with sensorineural deafness	COQ6	51004	Homo sapiens (human)	Alliance of Genome Resources
DOID:1474	aggressive periodontitis Aliases: juvenile periodontitis	BRINP3 CCL2 CCR2 COL1A1 CTSC IL10 IL1R2 IL2 IL6 POSTN PPIA	10631 1075 1277 339479 3558 3569 3586 5478 6347 729230 7850	Homo sapiens (human)	Alliance of Genome Resources
DOID:7188	autoimmune thyroiditis Aliases: Chronic Lymphocytic Thyroiditis Hashimoto thyroiditis Hashimoto's Disease Hashimoto's syndrome Hashimoto's thyroiditis Lymphocytic Thyroiditis	CTLA4 HLA-DQA1 HLA-DQB1 HLA-DRA HLA-DRB1 IFNG IL4 LRP2 MBL2 TG TLR3	1493 3117 3119 3122 3123 3458 3565 4036 4153 7038 7098	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080792	Treacher Collins syndrome 4	POLR1B	84172	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112383	KINSSHIP syndrome Aliases: AFF3-related mesomelic dysplasia KINS Steichen-Gersdorf type mesomelic dysplasia	AFF3	3899	Homo sapiens (human)	Alliance of Genome Resources
DOID:2219	Glanzmann's thrombasthenia Aliases: BDPLT2 Glanzmann thrombasthenia Glycoprotein IIb/IIIa defect Thrombocytasthenia deficiency of GP IIb-IIIa complex deficiency of glycoprotein complex IIb-IIIa deficiency of platelet fibrinogen receptor platelet glycoprotein IIb-IIIa deficiency platelet-type bleeding disorder 2 thrombasthenia of Glanzmann and Naegeli	ITGA2 ITGA2B ITGB3	3673 3674 3690	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080545	hyper IgE syndrome Aliases: hyper immunoglobulin E syndrome	IL6R	3570	Homo sapiens (human)	Alliance of Genome Resources
DOID:10595	Charcot-Marie-Tooth disease Aliases: CMT - Charcot-Marie-Tooth disease	AARS1 AARS2 CADM3 FBLN5 FGD3 FIG4 GSTT2B ITPR3 JAG1 MPZ MTM1 MTMR1 MTMR2 MTMR3 MTMR4 MTMR6 MTMR7 MTMR8 NARS1 NEFL NRG1 PMP22 POLR3B SGPL1 SLC12A6 TNFRSF11B YARS1	10516 16 182 3084 3710 4359 4534 4677 4747 4982 5376 55613 55703 57505 57863 653689 8565 8776 8879 8897 8898 89846 9107 9108 9110 9896 9990	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110674	congenital myasthenic syndrome 17 Aliases: CMS17	LRP4	4038	Homo sapiens (human)	Alliance of Genome Resources
DOID:4465	papillary renal cell carcinoma Aliases: Chromophil carcinoma of kidney papillary kidney carcinoma sporadic papillary renal cell carcinoma	MET PRCC	4233 5546	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060765	autosomal dominant Robinow syndrome 2 Aliases: DRS2	DVL1	1855	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111667	enterokinase deficiency Aliases: congenital enterokinase deficiency congenital enteropathy due to enteropeptidase deficiency deficiency of enteropeptidase	TMPRSS15	5651	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080960	amelogenesis imperfecta type 2A6 Aliases: Amelogenesis imperfecta, hypomaturation type, IIA6	GPR68	8111	Homo sapiens (human)	Alliance of Genome Resources
DOID:9649	congenital nystagmus	AHR MYO7A ROBO1	196 4647 6091	Homo sapiens (human)	Alliance of Genome Resources
DOID:1107	esophageal carcinoma Aliases: cancer of esophagus cancer of oesophagus carcinoma of esophagus carcinoma of oesophagus	GRB7 SLC7A5 STAT3	2886 6774 8140	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050704	childhood electroclinical syndrome	CACNA1A	773	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110592	autosomal dominant nonsyndromic deafness 70 Aliases: DFNA70 autosomal dominant deafness 70	MCM2	4171	Homo sapiens (human)	Alliance of Genome Resources
DOID:3996	urinary system cancer	WNT2	7472	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112135	severe congenital neutropenia 8 Aliases: SCN8 SDSL Shwachman-Diamond syndrome-like autosomal dominant severe congenital neutropenia 8 with or without pancreatic dysfunction and/or neurological abnormalities	SRP54	6729	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111358	Floating-Harbor syndrome Aliases: FLHS	SRCAP	10847	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080137	multiple endocrine neoplasia type 4 Aliases: Multiple Endocrine Neoplasia, Type IV	CDKN1B	1027	Homo sapiens (human)	Alliance of Genome Resources

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