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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 **4326 - 4350** of **5716** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:3783	Coffin-Lowry syndrome	RPS6KA3	6197	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070048	GAND syndrome Aliases: MRD18 autosomal dominant intellectual developmental disorder 18 autosomal dominant mental retardation 18 autosomal dominant non-syndromic intellectual disability 18	GATAD2B	57459	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070295	primary autosomal dominant microcephaly 18 Aliases: MCPH18	WDFY3	23001	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110770	hereditary spastic paraplegia 17 Aliases: SPG17 Silver spastic paraplegia syndrome Silver syndrome autosomal dominant spastic paraplegia 17 autosomal dominant spastic paraplegia type 17 dHMN5B distal hereditary motor neuropathy type 5B spastic paraplegia with amyotrophy of hands and feet spastic paraplegia-amyotrophy of hands and feet	BSCL2	26580	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110170	Charcot-Marie-Tooth disease axonal type 2Q Aliases: CMT2Q Charcot-Marie-Tooth neuropathy type 2Q autosomal dominant Charcot-Marie-Tooth disease type 2Q autosomal dominant axonal Charcot-Marie-Tooth disease type 2Q	DHTKD1	55526	Homo sapiens (human)	Alliance of Genome Resources
DOID:14320	generalized anxiety disorder	HTR1B SLC6A4	3351 6532	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090015	Cenani-Lenz syndactyly syndrome Aliases: syndactyly type 7	LRP4	4038	Homo sapiens (human)	Alliance of Genome Resources
DOID:14692	Smith-Lemli-Opitz syndrome Aliases: Rutledge lethal multiple congenital anomaly syndrome Smith-Opitz-Inborn syndrome	DHCR7	1717	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111543	juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome Aliases: JP-HHT	SMAD4	4089	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060349	microcephaly with or without chorioretinopathy, lymphedema, or mental retardation Aliases: chorioretinal dysplasia-microcephaly-mental retardation syndrome lymphedema and retinal folds with ficrocephaly and microphthalmos lymphedema, microcephaly and chorioretinopathy syndrome microcephaly lymphedema chorioretinal dysplasia microcephaly, lymphedema, chorioretinal dysplasia syndrome	KIF11	3832	Homo sapiens (human)	Alliance of Genome Resources
DOID:12129	bulimia nervosa Aliases: hyperorexia nervosa	COMT	1312	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111984	immunodeficiency 58 Aliases: IMD58 severe combined immunodeficiency due to CARMIL2 deficiency	CARMIL2	146206	Homo sapiens (human)	Alliance of Genome Resources
DOID:14004	thoracic aortic aneurysm	ACTA2 LOX MFAP5 MMP1 MMP9 MYH11 MYLK PRKG1 THSD4	4015 4312 4318 4629 4638 5592 59 79875 8076	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080553	congenital disorder of glycosylation Iaa Aliases: congenital disorder of glycosylation 1aa	NUS1	116150	Homo sapiens (human)	Alliance of Genome Resources
DOID:14711	FG syndrome Aliases: Keller syndrome Opitz-Kaveggia syndrome	CASK MED12	8573 9968	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060684	autosomal dominant nocturnal frontal lobe epilepsy 3 Aliases: ENFL3 nocturnal frontal lobe epilepsy 3	CHRNB2	1141	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081419	childhood-onset dystonia with optic atrophy and basal ganglia abnormalities Aliases: DYSTONIA 29, CHILDHOOD-ONSET DYTOABG MECR-related neurologic disorder MEPAN syndrome Mitochondrial Enoyl CoA Reductase Protein-Associated Neurodegeneration	MECR	51102	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080429	developmental and epileptic encephalopathy 24 Aliases: DEE24 early infantile epileptic encephalopathy 24	HCN1	348980	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112026	non-syndromic X-linked intellectual disability 99 Aliases: MRX99 X-linked mental retardation 99	USP9X	8239	Homo sapiens (human)	Alliance of Genome Resources
DOID:2749	glycogen storage disease Ia	G6PC1	2538	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110678	congenital myasthenic syndrome 4A Aliases: CMS Ia1 CMS1A1 CMS4A congenital myasthenic syndrome 4A slow-channel congenital myasthenic syndrometype Ia1	CHRNE	1145	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080652	calcium oxalate nephrolithiasis	CASR FN1 IL1RN OXGR1 SLC26A1	10861 2335 27199 3557 846	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080434	developmental and epileptic encephalopathy 61 Aliases: DEE61 early infantile epileptic encephalopathy 61	ADAM22	53616	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070526	PLACK syndrome Aliases: peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads	CAST	831	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060949	3-hydroxyisobutryl-CoA hydrolase deficiency Aliases: HIBCH deficiency Methacrylic aciduria Valine metabolic defect	HIBCH	26275	Homo sapiens (human)	Alliance of Genome Resources

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