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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 **8601 - 8625** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0090134	complex cortical dysplasia with other brain malformations 3 Aliases: CDCBM3	KIF2A	3796	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080436	developmental and epileptic encephalopathy 4 Aliases: DEE4 early infantile epileptic encephalopathy 4	STXBP1	6812	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111662	ectodermal dysplasia 14 Aliases: ECTN14 ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis	TSPEAR	54084	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110654	long QT syndrome 13 Aliases: LQT13	KCNJ5	3762	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070378	developmental and epileptic encephalopathy 109 Aliases: DEE109	FZR1	51343	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:0070273	hereditary nonpolyposis colorectal cancer type 6 Aliases: HNPCC6	TGFBR2	7048	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110551	autosomal dominant nonsyndromic deafness 21 Aliases: DFNA21 autosomal dominant deafness 21	RIPOR2	9750	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050669	spastic cerebral palsy	GAD1 GAD2	2571 2572	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060647	fetal encasement syndrome Aliases: cocoon syndrome	CHUK	1147	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080688	mosaic variegated aneuploidy syndrome	SLF2 SMC5	23137 55719	Homo sapiens (human)	Alliance of Genome Resources
DOID:2154	nephroblastoma Aliases: adult nephroblastoma	ABCB1 APOC3 BMP7 BRCA2 CD44 CDKN1B CTNNB1 CXCR2 ERBB2 FLT1 FZD7 GPC3 HIF1A IGF1R IGF2R JUP KDM4D KIT LIN28A MYC PAK1 PCNA PTGS2 REST SERPINF1 SIX1 SLC2A1 STAT1 STAT3 TERT TOP2A VEGFC WIF1	1027 11197 1499 2064 2321 2719 3091 345 3480 3482 3579 3728 3815 4609 5058 5111 5176 5243 55693 5743 5978 6495 6513 655 675 6772 6774 7015 7153 7424 79727 8324 960	Homo sapiens (human)	Alliance of Genome Resources
DOID:11506	suppurative otitis media Aliases: Otitis media with effusion - purulent Purulent otitis media	IFNG TLR2 TLR4	3458 7097 7099	Homo sapiens (human)	Alliance of Genome Resources
DOID:8029	sporadic breast cancer	ESR1 MLH1 PHB1 PTEN	2099 4292 5245 5728	Homo sapiens (human)	Alliance of Genome Resources
DOID:4795	GM2 gangliosidosis, AB variant Aliases: Tay-Sachs disease AB variant Tay-Sachs disease, variant AB	GM2A	2760	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0060412	chromosome 1q41-q42 deletion syndrome Aliases: 1q41-q42 microdeletion syndrome 1q41q42 microdeletion syndrome	TP53BP2	7159	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111111	maturity-onset diabetes of the young type 14 Aliases: MODY14	APPL1	26060	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110337	osteogenesis imperfecta type 7 Aliases: OI7 osteogenesis imperfecta type VII	CRTAP	10491	Homo sapiens (human)	Alliance of Genome Resources
DOID:13948	bladder neck obstruction Aliases: Obstruction of bladder neck or vesicourethral orifice	ADRA1A COL1A1 COL3A1 CYP19A1 ELN HIF1A HTR2A NGF NOS3 OPTN SOD2	10133 1277 1281 148 1588 2006 3091 3356 4803 4846 6648	Homo sapiens (human)	Alliance of Genome Resources
DOID:480	movement disease	DRD2 EFNB3	1813 1949	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080538	Sweeney-Cox syndrome	TWIST1	7291	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050456	Buruli ulcer disease Aliases: Bairnsdale ulcer Daintree ulcer Mossman ulcer Searl ulcer Searle's ulcer	SLC11A1	6556	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060340	ciliopathy	CC2D1A CC2D2A DNAI4 INVS PKD2 PRKG1 RPGRIP1L SPRY2 TEKT1 TMEM67 TTC8	10253 123016 23322 27130 5311 54862 5592 57545 79819 83659 91147	Homo sapiens (human)	Alliance of Genome Resources
DOID:7997	thyrotoxicosis	IL10	3586	Homo sapiens (human)	Alliance of Genome Resources
DOID:3389	Papillon-Lefevre disease Aliases: Papillon Lefevre syndrome Papillon-Lefvre syndrome	CTSC	1075	Homo sapiens (human)	Alliance of Genome Resources

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