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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	January 28, 2025
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **4276 - 4300** of **5716** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▲
DOID:14723	beta-ketothiolase deficiency Aliases: 2-methyl-3-hydroxybutyricacidemia 3-ketothiolase deficiency 3-oxothiolase deficiency Mitochondrial acetoacetyl-CoA Thiolase deficiency alpha-methylacetoaceticaciduria peroxisomal thiolase deficiency	ACAT1	38	Homo sapiens (human)	Alliance of Genome Resources
DOID:14731	Weaver syndrome Aliases: WEAVER-LIKE SYNDROME Weaver-Williams syndrome	Ezh2	14056	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14731	Weaver syndrome Aliases: WEAVER-LIKE SYNDROME Weaver-Williams syndrome	EZH2	2146	Homo sapiens (human)	Alliance of Genome Resources
DOID:14735	hereditary angioedema Aliases: HANE Hereditary angioneurotic edema	ANGPT1 F12 HS3ST6 KNG1 MYOF PLG SERPING1	2161 26509 284 3827 5340 64711 710	Homo sapiens (human)	Alliance of Genome Resources
DOID:14737	craniofrontonasal syndrome Aliases: CFND CFNS craniofrontonasal dysostosis craniofrontonasal dysplasia	Efnb1	13641	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14737	craniofrontonasal syndrome Aliases: CFND CFNS craniofrontonasal dysostosis craniofrontonasal dysplasia	EFNB1	1947	Homo sapiens (human)	Alliance of Genome Resources
DOID:1474	aggressive periodontitis Aliases: juvenile periodontitis	Postn	50706	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1474	aggressive periodontitis Aliases: juvenile periodontitis	CCL2 CCR2 COL1A1 CTSC IL10 IL1R2 IL6	1075 1277 3569 3586 6347 729230 7850	Homo sapiens (human)	Alliance of Genome Resources
DOID:14743	trichorhinophalangeal syndrome type I Aliases: trichorhinophalangeal syndrome type 1 type I trichorhinophalangeal syndrome	TRPS1	7227	Homo sapiens (human)	Alliance of Genome Resources
DOID:14744	Partington syndrome Aliases: X-linked Russell-Silver syndrome	ARX	170302	Homo sapiens (human)	Alliance of Genome Resources
DOID:14748	Sotos syndrome Aliases: cerebral gigantism	NSD1	64324	Homo sapiens (human)	Alliance of Genome Resources
DOID:14755	argininosuccinic aciduria Aliases: Argininosuccinate lyase deficiency argininosuccinic acidemia arginosuccinase deficiency deficiency of argininosuccinate lyase	Asl	109900	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14756	vascular type Ehlers-Danlos syndrome Aliases: Ehlers-Danlos syndrome type 4 Ehlers-Danlos syndrome type IV autosomal dominant type IV Ehlers-Danlos syndrome	COL3A1	1281	Homo sapiens (human)	Alliance of Genome Resources
DOID:14756	vascular type Ehlers-Danlos syndrome Aliases: Ehlers-Danlos syndrome type 4 Ehlers-Danlos syndrome type IV autosomal dominant type IV Ehlers-Danlos syndrome	Col3a1	12825	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14757	Ehlers-Danlos syndrome hypermobility type Aliases: Ehlers-Danlos syndrome, type 3 type III Ehlers-Danlos syndrome	COL3A1	1281	Homo sapiens (human)	Alliance of Genome Resources
DOID:14761	Greig cephalopolysyndactyly syndrome Aliases: polysyndactyly with peculiars skull shape	GLI3	2737	Homo sapiens (human)	Alliance of Genome Resources
DOID:14761	Greig cephalopolysyndactyly syndrome Aliases: polysyndactyly with peculiars skull shape	Gli3	14634	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14764	Larsen syndrome Aliases: dominant larsen syndrome	FLNB	2317	Homo sapiens (human)	Alliance of Genome Resources
DOID:14766	renal agenesis Aliases: hereditary renal aplasia hereditary urogenital adysplasia renal adysplasia renal aplasia	GFRA1 GREB1L ITGA8	2674 80000 8516	Homo sapiens (human)	Alliance of Genome Resources
DOID:14768	Saethre-Chotzen syndrome	FGFR2 TWIST1	2263 7291	Homo sapiens (human)	Alliance of Genome Resources
DOID:14778	blepharophimosis, ptosis, and epicanthus inversus syndrome	FOXL2	668	Homo sapiens (human)	Alliance of Genome Resources
DOID:14780	KBG syndrome	ANKRD11	29123	Homo sapiens (human)	Alliance of Genome Resources
DOID:14780	KBG syndrome	Ankrd11	77087	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14784	olivopontocerebellar atrophy Aliases: Dejerine-Thomas syndrome Thomas' syndrome WADIA-SWAMI SYNDROME	APTX	54840	Homo sapiens (human)	Alliance of Genome Resources
DOID:14789	spondyloepiphyseal dysplasia congenita Aliases: Late Spondyloepiphyseal Dysplasia	COL2A1	1280	Homo sapiens (human)	Alliance of Genome Resources

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