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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB), DisGeNET, and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	July 29, 2024
DisGeNET	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **376 - 400** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▼
DOID:0060733	junctional epidermolysis bullosa with pyloric atresia Aliases: Carmi syndrome JEB-PA epidermolysis bullosa junctionalis with pyloric atresia junctional epidermolysis bullosa-pyloric atresia syndrome	GALK1	2584	Homo sapiens (human)	DisGeNET
DOID:0111218	Friedreich ataxia 1 Aliases: FA1 FRDA1	ACO2 CAT GAA GPAA1 GPX1 HPGDS ICAM1 LPL PIP5K1B PRKAA2 VCAM1	2548 27306 2876 3383 4023 50 5563 7412 8395 847 8733	Homo sapiens (human)	DisGeNET
DOID:0070192	autosomal recessive chronic granulomatous disease 1 Aliases: CDG1 autosomal recessive chronic granulomatous disease cytochrome b-positive type I chronic granulomatous disease due to deficiency of NCF-1 deficiency of NCF1 deficiency of SOC2 deficiency of neutrophil cytosol factor 1 deficiency of p47-PHOX deficiency of soluble oxidase component II	PMM2 SLC35A2	5373 7355	Homo sapiens (human)	DisGeNET
DOID:0111069	congenital bile acid synthesis defect 2 Aliases: CBAS2 cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency	AKR1D1	6718	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0060485	Mowat-Wilson syndrome Aliases: Hirschsprung disease mental retardation syndrome microcephaly, mental retardation, and distinct facial featrues, with or without Hirschprung disease	ARSD	414	Homo sapiens (human)	DisGeNET
DOID:0050574	L-2-hydroxyglutaric aciduria Aliases: L-2-HYDROXYGLUTARIC ACIDEMIA	L2HGDH	79944	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:0111422	familial lipase maturation factor 1 deficiency Aliases: LPL and HL deficiency LPL and HTGL deficiency combined lipase deficiency familial LMF1 deficiency lipoprotein lipase deficiency with hepatic triglyceride lipase deficiency	LPL	4023	Homo sapiens (human)	DisGeNET
DOID:0060308	autosomal recessive intellectual developmental disorder Aliases: autosomal recessive mental retardation autosomal recessive non-syndromic mental retardation	NTHL1 PGAP1 ST3GAL3 TECR TUSC3	4913 6487 7991 80055 9524	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0110006	3-methylglutaconic aciduria type 4 Aliases: 3-methylglutaconic aciduria type IV MGA type IV MGA4 MGCA4	SUCLA2	8803	Homo sapiens (human)	DisGeNET
DOID:0070285	primary autosomal recessive microcephaly 1 Aliases: MCPH1	SDHB SDHD	6390 6392	Homo sapiens (human)	DisGeNET
DOID:0060842	isolated microphthalmia 3 Aliases: MCOP3	ALDH1A3	220	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0060840	isolated microphthalmia 1 Aliases: MCOP1	ALDH1A3	220	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0060839	isolated microphthalmia 2 Aliases: MCOP2	ALDH1A3	220	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0060838	isolated microphthalmia 7 Aliases: MCOP7	ALDH1A3	220	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0060835	isolated microphthalmia 6 Aliases: MCOP6 posterior nonsyndromic microphthalmia	ALDH1A3	220	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0060836	isolated microphthalmia 4 Aliases: MCOP4	ALDH1A3	220	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0060841	isolated microphthalmia 8 Aliases: MCOP8	ALDH1A3	220	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0060537	mitochondrial complex II deficiency Aliases: isolated mitochondrial respiratory chain complex II deficiency isolated succinate-CoQ reductase deficiency isolated succinate-coenzyme Q reductase deficiency isolated succinate-ubiquinone reductase deficiency	SDHA SDHB SDHD SORD	6389 6390 6392 6652	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0060867	macrocephaly-autism syndrome Aliases: macrocephaly-intellectual disability-autism syndrome	PTEN	5728	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0110698	hypotrichosis 1 Aliases: Hhs Hts Hypt1 hereditary generalized hypotrichosis simplex	GALNT3 LSS	2591 4047	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0060869	late-onset retinal degeneration Aliases: LORD autosomal dominant late-onset retinal degeneration	HKDC1	80201	Homo sapiens (human)	DisGeNET
DOID:0080354	Phelan-McDermid syndrome Aliases: 22q13.3 deletion syndrome monosomy 22q13 syndrome	ARSA PNPLA3	410 80339	Homo sapiens (human)	DisGeNET
DOID:0111105	maturity-onset diabetes of the young type 8 Aliases: MODY type 8 MODY8 diabetes and pancreatic exocrine maturity-onset diabetes of the young type 8 with exocrine dysfunction	CEL	1056	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0060252	sclerocornea Aliases: isolated congenital sclerocornea	ARSD EFNA5 FIG4	1946 414 9896	Homo sapiens (human)	DisGeNET
DOID:11367	congenital aphakia Aliases: APHAKIA, CONGENITAL PRIMARY Congenital absence of lens	CYP4F3 NTM	4051 50863	Homo sapiens (human)	DisGeNET

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