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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 **151 - 175** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▼
DOID:0060280	primary pigmented nodular adrenocortical disease	APRT	353	Homo sapiens (human)	DisGeNET
DOID:0111442	optic atrophy 9 Aliases: OPA9	ACO2	50	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0110178	Charcot-Marie-Tooth disease axonal type 2V Aliases: CMT2V Charcot-Marie-Tooth neuropathy type 2V autosomal dominant Charcot-Marie-Tooth disease type 2V autosomal dominant axonal Charcot-Marie-Tooth disease type 2V	NAGLU	4669	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0111232	congenital muscular dystrophy-dystroglycanopathy type A9 Aliases: MDDGA9 Walker-Warburg syndrome or muscle-eye-brain disease DAG1-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A9	DAG1	1605	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0110389	retinitis pigmentosa 73 Aliases: RP73	HGSNAT	138050	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0070266	congenital disorder of glycosylation type IIn Aliases: CDG IIn CDG syndrome type IIn CDG2N CDGIIdn Carbohydrate deficient glycoprotein syndrome type IIn Congenital disorder of glycosylation type 2n SLC39A8-CDG	SLC39A8	64116	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0070267	congenital disorder of glycosylation type IIo Aliases: CCDC115-CDG CDG IIo CDG syndrome type IIo CDG2O CDGIIdo Carbohydrate deficient glycoprotein syndrome type IIo Congenital disorder of glycosylation type 2o	CCDC115	84317	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0070268	congenital disorder of glycosylation type IIp Aliases: CDG IIp CDG syndrome type IIp CDG2P CDGIIdp Carbohydrate deficient glycoprotein syndrome type IIp Congenital disorder of glycosylation type 2p TMEM199-CDG	TMEM199	147007	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0080411	familial adenomatous polyposis 3	NTHL1	4913	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:4189	mutism	TMTC2	160335	Homo sapiens (human)	DisGeNET
DOID:0050541	Charcot-Marie-Tooth disease type 4 Aliases: hereditary motor and sensory neuropathy	FIG4 MAG MTM1 MTMR2	4099 4534 8898 9896	Homo sapiens (human)	DisGeNET
DOID:0090142	cystathioninuria Aliases: cystathionase deficiency cystathione gamma-lyase deficiency syndrome gamma-cystathionase deficiency	ACAT1	38	Homo sapiens (human)	DisGeNET
DOID:0090109	autosomal dominant hypocalcemia Aliases: HYPOC	ADH1A ADH1B ADH1C	124 125 126	Homo sapiens (human)	DisGeNET
DOID:0090107	autosomal dominant hypocalcemia 1 Aliases: HYPOC1	ADH1A ADH1B ADH1C	124 125 126	Homo sapiens (human)	DisGeNET
DOID:0111451	progressive myoclonus epilepsy 8 Aliases: EMP8 PME type 8 progressive myoclonic epilepsy due to CERS1 deficiency progressive myoclonus epilepsy type 8	CERS1	10715	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0110669	congenital myasthenic syndrome 14 Aliases: CMS14 CMSTA3 congenital myasthenic syndrome 14, with tubular aggregates congenital myasthenic syndrome with tubular aggregates 3	ALG2	85365	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0110658	congenital myasthenic syndrome 15 Aliases: CMS15 congenital myasthenic syndrome 15 without tubular aggregates	ALG14	199857	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0111420	familial GPIHBP1 deficiency Aliases: familial glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 deficiency hyperlipoproteinemia type 1D hyperlipoproteinemia type ID	GPIHBP1	338328	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0080443	developmental and epileptic encephalopathy 21 Aliases: DEE21 early infantile epileptic encephalopathy 21	CACNA2D2	9254	Homo sapiens (human)	DisGeNET
DOID:0080029	autosomal recessive spinocerebellar ataxia 16 Aliases: SCAR16	CNTN4 SUMF1	152330 285362	Homo sapiens (human)	DisGeNET
DOID:0050662	bestrophinopathy Aliases: autosomal recessive bestrophinopathy	ACE CAT SLC33A1	1636 847 9197	Homo sapiens (human)	DisGeNET
DOID:0060247	Smith-McCort dysplasia	AKR1C4 KL PTEN VCAN	1109 1462 5728 9365	Homo sapiens (human)	DisGeNET
DOID:0060543	Hermansky-Pudlak syndrome 5	PRKAA2	5563	Homo sapiens (human)	DisGeNET
DOID:0110860	polycystic kidney disease 3 Aliases: Apkd3 Pkd3 Polycystic Kidney Disease, Adult, Type III	ACLY FASN GANAB PKD1	2194 23193 47 5310	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:1209	nutritional optic neuropathy	ACE ACO2 AKR1B1 PRPS1 PTEN	1636 231 50 5631 5728	Homo sapiens (human)	DisGeNET

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