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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 **3176 - 3200** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:3529	congenital myopathy 1A Aliases: central core disease central core myopathy	Ryr2	689560	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110224	Brugada syndrome 7 Aliases: BRGDA7	SCN3B	55800	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080354	Phelan-McDermid syndrome Aliases: 22q13.3 deletion syndrome monosomy 22q13 syndrome	TCF20	6942	Homo sapiens (human)	Alliance of Genome Resources
DOID:14504	Niemann-Pick disease Aliases: Sphingomyelinase Deficiency Disease lipoid histiocytosis sphingomyelin lipidosis	NCR1 PPN1	852063 856101	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:13641	exfoliation syndrome Aliases: Pseudoexfoliation glaucoma Pseudoexfoliation syndrome	Acvr1 Clu Pon1 Sod2 Stra6 Tlr4	11477 12759 18979 20656 20897 21898	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:6000	congestive heart failure Aliases: CHF Cardiac Failure Congestive Congestive heart disease Weak heart	ace cs cxcr4 ogt ppp1cc	100038176 100144634 407879 550067 553157	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0080547	metabolic dysfunction-associated steatohepatitis Aliases: MASH NASH non-alcoholic steatohepatitis nonalcoholic steatohepatitis	HFA1 KAR2 YDC1 YPC1	852481 853418 855247 856018	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:5744	ovary serous adenocarcinoma Aliases: malignant ovarian serous tumor serous carcinoma of Ovary	BSG TP53	682 7157	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060395	chromosome 15q24 deletion syndrome Aliases: 15q24 microdeletion syndrome	Sin3a	20466	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1591	renovascular hypertension	PEP4 TIF4631 TIF4632 ZWF1	852833 853071 855480 855949	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:9477	pulmonary embolism Aliases: pulmonary artery embolism pulmonary embolus	C49C8.5 W01F3.2 Y43C5A.2 zmp-2 zmp-4	175383 177668 177911 179991 180351	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0110171	Charcot-Marie-Tooth disease axonal type 2S Aliases: CMT2S Charcot-Marie-Tooth disease type 2S Charcot-Marie-Tooth neuropathy type 2S autosomal recessive axonal Charcot-Marie-Tooth type 2S	IGHMBP2	3508	Homo sapiens (human)	Alliance of Genome Resources
DOID:3078	anaplastic astrocytoma Aliases: grade III Astrocytic tumor grade III astrocytoma	Kras	16653	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2957	pulmonary tuberculosis	ada2.L akt1.S	399170 779128	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:4492	avian influenza Aliases: avian flu bird flu	ace2	492331	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0111230	congenital muscular dystrophy-dystroglycanopathy type A11 Aliases: MDDGA11 Walker-Warburg syndrome or muscle-eye-brain disease B3GALNT2-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A11	B3galnt2	97884	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112062	immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia Aliases: IMD73C	RAC2	5880	Homo sapiens (human)	Alliance of Genome Resources
DOID:5327	retinal detachment	Aifm1 Bnip3 Ccl2 Cfh Cfhr4 Col2a1 Epo Epor Fas Fgfr1 Ntrk1 Tnf	12176 12628 12824 13856 13857 14102 14182 18211 20296 214403 21926 26926	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050902	medulloblastoma Aliases: CNS PNET CPNET Medulloblastoma, histologically defined brain medulloblastoma infratentorial primitive neuroectodermal tumor localized primitive neuroectodermal tumor	gpr161	100170613	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:14365	systemic primary carnitine deficiency disease Aliases: carnitine transporter deficiency carnitine uptake defect deficiency of plasma-membrane carnitine transporter primary carnitine deficiency renal carnitine transport defect	Orct2 Orct	42890 42891	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0080093	myofibrillar myopathy 2 Aliases: alpha-b crystallinopathy	Cryaa Cryab Hspb6	192245 24273 25420	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0070262	congenital disorder of glycosylation type IIj Aliases: CDG IIj CDG syndrome type IIj CDG2J CDGIIdj COG4-CDG Carbohydrate deficient glycoprotein syndrome type IIj Congenital disorder of glycosylation type 2j	COG4	25839	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:6406	double outlet right ventricle Aliases: Dextrotransposition of aorta Double outlet right ventricle with subpulmonary ventricular septal defect Taussig-Bing syndrome or defect	Cfc1 Ece1	12627 230857	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111000	Joubert syndrome 5 Aliases: JBTS5	Cep290	216274	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:12236	primary biliary cholangitis Aliases: biliary liver cirrhosis cholestatic cirrhosis chronic nonsuppurative destructive cholangitis primary biliary cirrhosis	ace2 ace vegfaa	30682 492331 565980	Danio rerio (zebrafish)	Alliance of Genome Resources

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