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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 **4726 - 4750** of **7942** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism
DOID:0070094	oculocutaneous albinism type IA Aliases: OCA1A Oculocutaneous Albinism, Tyrosinase-Negative	CALR CANX NAGLU	4669 811 821	Homo sapiens (human)
DOID:0050632	oculocutaneous albinism	CALR CANX G6PC3 IDS PIK3CA PTEN	3423 5290 5728 811 821 92579	Homo sapiens (human)
DOID:0081023	retinal cone dystrophy 4	CACNA2D4	93589	Homo sapiens (human)
DOID:0050795	cone dystrophy Aliases: retinal cone dystrophy	CACNA2D4	93589	Homo sapiens (human)
DOID:10273	heart conduction disease Aliases: heart rhythm disease	CACNA2D3 ETNK1 ETNK2	55224 55500 55799	Homo sapiens (human)
DOID:0080443	developmental and epileptic encephalopathy 21 Aliases: DEE21 early infantile epileptic encephalopathy 21	CACNA2D2	9254	Homo sapiens (human)
DOID:0080468	developmental and epileptic encephalopathy 1 Aliases: DEE1 X-linked infantile spasm syndrome 1 early infantile epileptic encephalopathy 1	CACNA2D2 PIGP PIGQ PLCB1 SMUG1 SYNJ1	23236 23583 51227 8867 9091 9254	Homo sapiens (human)
DOID:14042	bipolar I disorder	CACNA2D2 FADS1 FADS2 MACROD2 NCAN PARP10	140733 1463 3992 84875 9254 9415	Homo sapiens (human)
DOID:0070395	developmental and epileptic encephalopathy 110 Aliases: DEE110 early infantile epileptic encephalopathy 110	CACNA2D1	781	Homo sapiens (human)
DOID:0050793	short QT syndrome	CACNA2D1 KCNQ1	3784 781	Homo sapiens (human)
DOID:8545	malignant hyperthermia Aliases: anesthesia related hyperthermia malignant hyperpyrexia due to anesthesia	CACNA2D1 GCDH GPI HSPG2 MTMR14	2639 2821 3339 64419 781	Homo sapiens (human)
DOID:0110404	retinitis pigmentosa 17 Aliases: RP17	CA4	762	Homo sapiens (human)
DOID:0060050	autoimmune disease of blood	C38H2.2	176455	Caenorhabditis elegans
DOID:3633	beta-mannosidosis Aliases: Beta-D-mannosidosis beta-mannosidase deficiency lysosomal beta-mannosidase deficiency	C33G3.4	181517	Caenorhabditis elegans
DOID:11949	Creutzfeldt-Jakob disease Aliases: CJD Creutzfeldt Jacob syndrome Creutzfeldt Jakob disease Creutzfeldt-Jacob disease Jakob-Creutzfeldt disease Subacute spongiform encephalopathy Transmissible virus dementia	C29E4.10	183002	Caenorhabditis elegans
DOID:13276	Mycoplasma pneumoniae pneumonia Aliases: Mycoplasma pneumonia Mycoplasmal pneumonia Pneumonia due to Eaton's agent Pneumonia due to Mycoplasma pneumoniae Pneumonia due to Mycoplasma pneumoniae (disorder) cold agglutinin positive pneumonia	C29E4.10	183002	Caenorhabditis elegans
DOID:10587	Krabbe disease Aliases: Diffuse globoid body sclerosis GLOBOID CELL LEUKOENCEPHALOPATHY Galactosylceramide beta-galactosidase deficiency Krabbe's disease Krabbe's leukodystrophy beta galactocerebrosidase deficiency globoid cell leukodystrophy	C29E4.10	183002	Caenorhabditis elegans
DOID:1909	melanoma Aliases: Naevocarcinoma malignant melanoma	C29E4.10 cht-1	180628 183002	Caenorhabditis elegans
DOID:0080520	Tn polyagglutination syndrome Aliases: galactosyltransferase deficiency	C1galt1c1	59048	Mus musculus (house mouse)
DOID:12554	hemolytic-uremic syndrome Aliases: haemolytic-uraemic syndrome hemolytic uremic syndrome	C1galt1c1 Il1rl1	17082 59048	Mus musculus (house mouse)
DOID:0080520	Tn polyagglutination syndrome Aliases: galactosyltransferase deficiency	C1galt1c1	302499	Rattus norvegicus (Norway rat)
DOID:12554	hemolytic-uremic syndrome Aliases: haemolytic-uraemic syndrome hemolytic uremic syndrome	C1galt1c1 Il1rl1	25556 302499	Rattus norvegicus (Norway rat)
DOID:0060050	autoimmune disease of blood	C1galt1	94192	Mus musculus (house mouse)
DOID:0060050	autoimmune disease of blood	C1galt1	65044	Rattus norvegicus (Norway rat)
DOID:0060050	autoimmune disease of blood	C1GalTA	34215	Drosophila melanogaster (fruit fly)

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