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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 **476 - 500** of **4649** in total

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Disease ID ▲	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0060410	chromosome 1p36 deletion syndrome Aliases: 1p36 deletion syndrome deletion 1p36 monosomy 1p36	CASZ1 KCNAB2	54897 8514	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060411	chromosome 1q21.1 deletion syndrome Aliases: 1q21.1 microdeletion syndrome	BCL9 BCL9L	283149 607	Homo sapiens (human)	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:0060413	chromosome 22q11.2 deletion syndrome, distal Aliases: DiGeorge syndrome and Velocardiofacial syndrome distal 22q11.2 microdeletion syndrome	HIRA MED15 PI4KA PRODH2 SNAP29	51586 5297 58510 7290 9342	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060419	chromosome 3q29 microdeletion syndrome Aliases: 3q subtelomere deletion syndrome 3q29 microdeletion syndrome 3q29 recurrent deletion 3qter deletion	BDH1 DLG1 HSD17B6 LTF MELTF SDR9C7 SLC51A TF	121214 1739 200931 4057 4241 622 7018 8630	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060428	SATB2-associated syndrome Aliases: 2q32-q33 microdeletion syndrome 2q32q33 microdeletion syndrome Glass syndrome chromosome 2q32-q33 deletion syndrome monosomy 2q32 monosomy 2q32-q33 monosomy 2q32q33	SATB2	23314	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060438	Cole-Carpenter syndrome	P4HB SEC24D	5034 9871	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060439	lysinuric protein intolerance Aliases: LPI dibasic amino aciduria II hyperdibasic aminoaciduria	SLC7A7	9056	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060444	granular corneal dystrophy 2 Aliases: CGD2 avellino corneal dystrophy combined granular-lattice corneal dystrophy corneal dystrophy, Avellino type granular corneal dystrophy type 2	TGFBI	7045	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060445	congenital stromal corneal dystrophy Aliases: CSCD congenital hereditary stromal dystrophy	DCN	1634	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060447	epithelial basement membrane dystrophy Aliases: Cogan corneal dystrophy EBMD microcystic corneal dystrophy	TGFBI	7045	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060448	Fleck corneal dystrophy Aliases: FCD Francois-Neetens speckled corneal dystrophy	PIKFYVE	200576	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060449	gelatinous drop-like corneal dystrophy Aliases: GDCD corneal amyloidosis primary familial amyloidosis of the cornea subepithelial amyloidosis of the cornea	CLU TACSTD2	1191 4070	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060450	Lisch epithelial corneal dystrophy Aliases: LECD band-shaped and whorled microcystic	MCOLN1	57192	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060453	Reis-Bucklers corneal dystrophy Aliases: RBCD anterior limiting membrane dystrophy type I corneal dystrophy of Bowman layer type I geographic corneal dystrophy granular corneal dystrophy type III	TGFBI	7045	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060455	Thiel-Behnke corneal dystrophy Aliases: TBCD Waardenburg-Jonker corneal dystrophy anterior limiting membrane dystrophy type II corneal dystrophy honeycomb-shaped corneal dystrophy of Bowman layer type II	TGFBI	7045	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060462	Desbuquois dysplasia Aliases: Desbuquois syndrome micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification	CANT1 XYLT1	124583 64131	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060464	Feingold syndrome Aliases: FGLDS MODED syndrome ODED syndrome digital anomalies with short palpebral fissures and atresia of esophagus or duodenum microcephaly-digital anomalies-normal intelligence syndrome microcephaly-oculo-digito-esophageal-duodenal syndrome oculo-digito-esophageal-duodenal syndrome	MYCN	4613	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060466	gingival fibromatosis Aliases: hereditary gingival fibromatosis hereditary gingival hyperplasia	SOS1	6654	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060468	Holt-Oram syndrome Aliases: atrio-digital syndrome atriodigital dysplasia heart-hand syndrome	SALL4	57167	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060469	Miller-Dieker lissencephaly syndrome Aliases: MDS Miller-Dieker syndrome	MNT PAFAH1B1 YWHAE	4335 5048 7531	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060470	salt and pepper syndrome Aliases: salt & pepper syndrome salt-and-pepper syndrome	ST3GAL5	8869	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0060473	Kabuki syndrome Aliases: KMS Kabuki make up syndrome Niikawa-Kuroki syndrome	KDM6A KMT2D UTY	7403 7404 8085	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060475	myoclonic-atonic epilepsy Aliases: EEOC childhood onset epileptic encephalopathy	CHD2 FMR1 ROBO1 ROBO2 ROBO3 SLC25A10 SLC6A1 VARS1	1106 1468 2332 6091 6092 64221 6529 7407	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060478	Zika fever Aliases: Zika virus disease	STAT2	6773	Homo sapiens (human)	Alliance of Genome Resources

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