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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 **9726 - 9750** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:3594	choriocarcinoma Aliases: Chorioepithelioma	FGF8 IGF2 INSR PDGFB PDGFRB TIMP3	2253 3481 3643 5155 5159 7078	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060076	estrogen-receptor negative breast cancer	CYB5R3	1727	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070157	hereditary sensory and autonomic neuropathy type 1C Aliases: HSAN1C hereditary sensory and autonomic neuropathy type IC	SPTLC2	9517	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080387	nephrotic syndrome type 12	NUP93	9688	Homo sapiens (human)	Alliance of Genome Resources
DOID:9827	radioulnar synostosis	HOXA11 SMAD6	3207 4091	Homo sapiens (human)	Alliance of Genome Resources
DOID:12010	anterior ischemic optic neuropathy Aliases: Ischemic optic neuropathy	CSF3 NOS3	1440 4846	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:0111614	autosomal recessive spinocerebellar ataxia 22 Aliases: SCAR22	VWA3B	200403	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070292	primary autosomal recessive microcephaly 9 Aliases: MCPH9	CEP152	22995	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080019	metaphyseal dysplasia Aliases: Bakwin-Krida syndrome Pyle's disease Pyle-Cohn syndrome	SFRP4	6424	Homo sapiens (human)	Alliance of Genome Resources
DOID:3572	intracranial sinus thrombosis	GPX3	2878	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112056	X-linked intellectual disability-short stature-overweight syndrome Aliases: MRX12 MRX35 X-linked mental retardation 12 X-linked mental retardation 35	THOC2	57187	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060356	Vici syndrome Aliases: immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum	EPG5	57724	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111696	familial adult myoclonic epilepsy 6 Aliases: BAFME6 FAME6 FCMTE6 benign adult familial myoclonic epilepsy 6 familial cortical myoclonic tremor and epilepsy 6	TNRC6A	27327	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111189	distal myopathy 3 Aliases: MPD3 distal muscular dystrophy 3 distal myopathy type 3	HNRNPA1	3178	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081110	keratosis palmoplantaris striata 3	KRT1	3848	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081097	Rafiq syndrome Aliases: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15	MAN1B1	11253	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0070297	primary microcephaly Aliases: true microcephaly	CIT KNL1	11113 57082	Homo sapiens (human)	Alliance of Genome Resources
DOID:1387	hypolipoproteinemia Aliases: Hypolipoproteinaemia	ABCA1 APOA1	19 335	Homo sapiens (human)	Alliance of Genome Resources
DOID:10581	metachromatic leukodystrophy Aliases: MLD Scholz cerebral sclerosis arylsulfatase A deficiency deficiency of cerebroside-sulfatase sulfatide lipoidosis	ARSA PSAP	410 5660	Homo sapiens (human)	Glyco-Disease Genes Database Glyco-Disease Genes Database Glyco-Disease Genes Database Glyco-Disease Genes Database Glyco-Disease Genes Database Alliance of Genome Resources
DOID:13001	carotid stenosis Aliases: Carotid artery stenosis Stenosis, carotid artery	F2 IL10 IL4 LPA MMP1 MMP3 MT2A NR1H3 PLA2G7 PROCR PTGIS TLR2 TLR4 VCAM1	10062 10544 2147 3565 3586 4018 4312 4314 4502 5740 7097 7099 7412 7941	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111274	CODAS syndrome Aliases: cerebral, ocular, dental, auricular, and skeletal syndrome cerebro-oculo-dento-auriculo-skeletal syndrome	LONP1	9361	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110943	autosomal recessive osteopetrosis 2 Aliases: OPTB2 mild autosomal recessive form osteopetrosis osteoclast-poor osteopetrosis	TNFSF11	8600	Homo sapiens (human)	Alliance of Genome Resources
DOID:12720	cerebral atherosclerosis	KALRN	8997	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050471	Carney complex Aliases: Carney Complex, Type 1 Carney Complex, Type 2 Carney Syndrome Carney complex variant LAMB Syndrome NAME Syndrome	PRKAR1A	5573	Homo sapiens (human)	Alliance of Genome Resources

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