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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 **6951 - 6975** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:12716	newborn respiratory distress syndrome Aliases: HMD - Hyaline membrane disease Neonatal respiratory Distress syndrome hyaline membrane disease pulmonary hyaline membrane disease pulmonary hypoperfusion syndrome of newborn respiratory distress syndrome of newborn	CCAP-R Sod3 sfl	2768688 36232 38736	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:2841	asthma Aliases: bronchial hyperreactivity chronic obstructive asthma chronic obstructive asthma with acute exacerbation chronic obstructive asthma with status asthmaticus	Acer Ance Balat CCAP-R CarT ChT Cht10 Cht2 Egfr Hmgcr Idgf1 Idgf2 Idgf3 Idgf4 Idgf5 Idgf6 Mdr49 Mdr65 ORMDL Octbeta2R Orct2 Orct Parp1 Pxn SerT Spn28Dc TkR86C TkR99D Tl TrpA1 VAChT mAChR-A mys	2768688 31926 3355109 3355116 34091 34189 34805 34978 34979 34981 35334 36417 36428 36868 37104 37455 37892 37895 38223 38326 38726 39015 40404 41286 41549 42245 42795 42803 42890 42891 43222 43551 44885	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:2560	morphine dependence	CCAP-R Dop2R Fas2 GluRIA	2768688 31364 33007 38742	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:535	sleep disorder Aliases: Non-organic sleep disorder	CCAP-R InR Pdfr	2768688 31234 42549	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0070382	developmental and epileptic encephalopathy 95 Aliases: DEE95 early infantile epileptic encephalopathy 95	Pigs	276846	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070255	congenital disorder of glycosylation type IIc Aliases: CDG IIc CDG2C CDGIIc Rambam-Hasharon syndrome	GMDS SLC35C1	2762 55343	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:3321	GM2 gangliosidosis Aliases: gangliosidosis GM2	GM2A	2760	Homo sapiens (human)	Alliance of Genome Resources
DOID:4795	GM2 gangliosidosis, AB variant Aliases: Tay-Sachs disease AB variant Tay-Sachs disease, variant AB	GM2A	2760	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0070217	familial hyperinsulinemic hypoglycemia 6 Aliases: HHF6 HI/HA syndrome hyperinsulinism-hyperammonemia syndrome	GLUD1	2746	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060272	pontocerebellar hypoplasia type 3	PCLO	27445	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112207	developmental and epileptic encephalopathy 71 Aliases: DEE71 early infantile epileptic encephalopathy 71 glutaminase deficiency with neonatal epileptic encephalopathy	GLS	2744	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060697	hyperekplexia 2 Aliases: HKPX2	GLRB	2743	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070422	syndromic X-linked intellectual disability Pilorge type Aliases: MRXSP	GLRA2	2742	Homo sapiens (human)	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	27419	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111394	mucopolysaccharidosis type IIIB Aliases: MPS3B MPSIIIB Mucopoly-saccharidosis type 3B Mucopolysaccharidosis type 3B N-acetyl-alpha-glucosaminidase deficiency NAGLU deficiency Sanfilippo syndrome type B mucopolysaccharidosis type IIIB (Sanfilippo B)	Naglu	27419	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070222	progressive familial intrahepatic cholestasis 2 Aliases: BSEP deficiency PFIC2	Abcb11	27413	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070232	benign recurrent intrahepatic cholestasis 2 Aliases: BRIC type 2 BRIC2	Abcb11	27413	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060696	hyperekplexia 1 Aliases: HKPX1	GLRA1	2741	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060695	hyperekplexia Aliases: Kok disease congenital stiff man syndrome familial startle disease hereditary hyperekplexia startle disease	GLRA1	2741	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090019	sitosterolemia Aliases: phytosterolemia	Abcg5 Abcg8	27409 67470	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111364	Alzheimer's disease 9 Aliases: AD9 Alzheimer's disease 9, late onset	Abca7	27403	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111220	centronuclear myopathy 2 Aliases: CNM2	BIN1	274	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070450	mitochondrial DNA depletion syndrome 19	Slc25a10	27376	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070329	mitochondrial DNA depletion syndrome Aliases: mtDNA depletion syndrome	Slc25a10	27376	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111888	Diamond-Blackfan anemia 10 Aliases: DBA10 RPS26-related Diamond-Blackfan anemia	Rps26	27370	Mus musculus (house mouse)	Alliance of Genome Resources

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