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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 **12601 - 12625** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:0111442	optic atrophy 9 Aliases: OPA9	ACO2	50	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070519	early-onset vitamin B6-dependent epilepsy 4 Aliases: AASA dehydrogenase deficiency EPEO4 PDE-ALDH7A1 antiquitin deficiency	ALDH7A1	501	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080768	pyridoxine-dependent epilepsy	ALDH7A1	501	Homo sapiens (human)	Alliance of Genome Resources
DOID:9410	panhypopituitarism Aliases: Simmond's disease Simmonds' disease combined pituitary hormone deficiency	OTX2 RNPC3 ROBO1	5015 55599 6091	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111806	syndromic microphthalmia 5 Aliases: MCOPS5 syndromic microphthalmia type 5 syndromic microphthalmia/anophthalmia due to OTX2 mutation	OTX2	5015	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060438	Cole-Carpenter syndrome	P4HB SEC24D	5034 9871	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112237	lissencephaly 1 Aliases: LIS1 PAFAH1B1-related lissencephaly	PAFAH1B1	5048	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060490	Schimke immuno-osseous dysplasia Aliases: Schimke immunoosseous dysplasia Schimke syndrome immunoosseous dysplasia Schimke type spondyloepiphyseal dysplasia - nephrotic syndrome	SMARCAL1	50485	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112189	thyroid dyshormonogenesis 6 Aliases: TDH6 genetic defect in thyroid hormonogenesis 6	DUOX2	50506	Homo sapiens (human)	Alliance of Genome Resources
DOID:1498	cholera Aliases: Cholera - Vibrio cholerae Cholera due to Vibrio cholerae Vibrio cholerae	DUOX2	50506	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050715	methylmalonic aciduria and homocystinuria type cblC Aliases: Cobalamin C deficiency MAHCC	PRDX1 THAP11	5052 57215	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050831	familial encephalopathy with neuroserpin inclusion bodies Aliases: FENIB	SERPINB7 SERPINE1 SERPINE2 SERPINI1 SERPINI2	5054 5270 5274 5276 8710	Homo sapiens (human)	Alliance of Genome Resources
DOID:74	hematopoietic system disease Aliases: Blood disease Blood dyscrasia DISEASE OF THE BLOOD AND BLOOD-FORMING ORGANS Hematological disease blood disorder disease of haematopoietic system disease of hematopoietic system haematopoietic system disease	SERPINE1 UGT1A1	5054 54658	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060181	ischemic colitis	SERPINE1 VEGFA	5054 7422	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111046	platelet-type bleeding disorder 10 Aliases: BDPLT10 CD36 deficiency platelet glycoprotein IV deficiency	CD36 SERPINE1	5054 948	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080899	lung pleomorphic carcinoma	Slc3a2	50567	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0081235	autosomal recessive intellectual developmental disorder 76	Gria1	50592	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:5418	schizoaffective disorder	Gria1	50592	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060307	autosomal dominant intellectual developmental disorder Aliases: autosomal dominant mental retardation autosomal dominant non-syndromic mental retardation	Gria1	50592	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111982	immunodeficiency 56 Aliases: IL21R immunodeficiency IMD56 combined immunodeficiency due to IL21R deficiency	IL21R	50615	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081263	neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities Aliases: NEDMCR syndrome	GEMIN4	50628	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112051	non-syndromic X-linked intellectual disability 30 Aliases: MRX30 MRX47 X-linked mental retardation 30 X-linked mental retardation 30/47 X-linked mental retardation 47	PAK3	5063	Homo sapiens (human)	Alliance of Genome Resources
DOID:3033	colon signet ring adenocarcinoma Aliases: Colonic Signet Ring adenocarcinoma	Runx1	50662	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:9258	Waardenburg syndrome Aliases: Waardenburg Shah syndrome Waardenburg's syndrome van der Hoeve Halbertsona Waardenburg syndrome	Ednrb Kitlg	50672 60427	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050600	ABCD syndrome Aliases: ABCDS albinism, black lock, cell migration disorder of the neurocytes of the gut, and deafness	Ednrb	50672	Rattus norvegicus (Norway rat)	Alliance of Genome Resources

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