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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 **1176 - 1200** of **4649** in total

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Disease ID ▲	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0080284	developmental and epileptic encephalopathy 57 Aliases: DEE57 early infantile epileptic encephalopathy 57	KCNT2	343450	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080285	developmental and epileptic encephalopathy 58 Aliases: DEE58 early infantile epileptic encephalopathy 58	NTRK2	4915	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080286	spinocerebellar ataxia 44	GRM1	2911	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080287	spinocerebellar ataxia 45	FAT2	2196	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080288	spinocerebellar ataxia 46	PLD3	23646	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080289	orofaciodigital syndrome XVII	INTU	27152	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080290	familial erythrocytosis 5 Aliases: ECYT5	EPO	2056	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080291	developmental and epileptic encephalopathy 59 Aliases: DEE59 early infantile epileptic encephalopathy 59	GABBR2	9568	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080294	Charcot-Marie-Tooth disease dominant intermediate G	NEFL	4747	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080297	Coffin-Siris syndrome 6	ARID2	196528	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080299	partial lipodystrophy	LMNB2	84823	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080301	atypical hemolytic-uremic syndrome	ADAMTS13 C3 CD46 CFB CFH CFHR1 CFHR3 CFI THBD	10878 11093 3075 3078 3426 4179 629 7056 718	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080309	fatal infantile hypertonic myofibrillar myopathy	CRYAB	1410	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080311	X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance	ARHGAP26 OPHN1	23092 4983	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080312	neurodevelopmental disorder with midbrain and hindbrain malformations Aliases: NEDMHM	ARHGEF2	9181	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080313	cleft palate-lateral synechia syndrome Aliases: CPLS syndrome syngnathia	BMP4	652	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080315	megalencephalic leukoencephalopathy with subcortical cysts Aliases: megalencephalic leukodystrophy megalencephaly-cystic leukodystorphy syndrome vacuolating megalencephalic leukoencephalopathy with subcortical cysts	AQP4 GPRC5B HEPACAM	220296 361 51704	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080317	megalencephalic leukoencephalopathy with subcortical cysts 2B Aliases: megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation	HEPACAM	220296	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080318	megalencephalic leukoencephalopathy with subcortical cysts 2A	HEPACAM	220296	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080319	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia Aliases: XMEN	MAGT1	84061	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080322	polycystic kidney disease	AGT ATF1 C9 CFB CTSB CTSH DLL4 EPAS1 GANAB GNAS GPBAR1 HDAC6 HIF1A KIF3A MTOR MYC NOS3 NPPB PKD1 PKD2 PLA2G4A PPARG PTGS1 PTGS2 PTMA SOD1 STAM2 TNC XYLT2	10013 10254 11127 1508 1512 151306 183 2034 23193 2475 2778 3091 3371 4609 466 4846 4879 5310 5311 5321 54567 5468 5742 5743 5757 629 64132 6647 735	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080324	tuberous sclerosis 1	TSC1	7248	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080325	tuberous sclerosis 2	IFNG TSC2	3458 7249	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080326	familial hypertrophic cardiomyopathy	ALPK3 CORIN FHOD3 MYBPC3 MYH15 MYH1 MYH7 MYL9	10398 10699 22989 4607 4619 4625 57538 80206	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080328	Culler-Jones syndrome	GLI2	2736	Homo sapiens (human)	Alliance of Genome Resources

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