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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	January 28, 2025
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **2751 - 2775** of **4115** in total

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Disease ID	Disease Name ▼	Gene Symbol	Gene ID	Organism	Source
DOID:0080006	bone development disease	FLNB TNFRSF11A	2317 8792	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050679	blue cone monochromacy	OPN1LW OPN1MW	2652 5956	Homo sapiens (human)	Alliance of Genome Resources
DOID:620	blood protein disease Aliases: blood protein disorder	ALB	213	Homo sapiens (human)	Alliance of Genome Resources
DOID:2218	blood platelet disease Aliases: Thrombocytopathy platelet disorder	CD36 EPHB2 FLI1 GP6 ITGB3 TBXA2R TPM4	2048 2313 3690 51206 6915 7171 948	Homo sapiens (human)	Alliance of Genome Resources
DOID:1432	blindness Aliases: vision impairment vision loss visual impairment	AQP4	361	Homo sapiens (human)	Alliance of Genome Resources
DOID:529	blepharospasm	DRD5	1816	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081442	blepharophimosis-impaired intellectual development syndrome Aliases: SMARCA2-related blepharophimosis-intellectual disability syndrome	SMARCA2	6595	Homo sapiens (human)	Alliance of Genome Resources
DOID:14778	blepharophimosis, ptosis, and epicanthus inversus syndrome	FOXL2	668	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080346	blepharocheilodontic syndrome 2	CTNND1	1500	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080345	blepharocheilodontic syndrome 1	CDH1	999	Homo sapiens (human)	Alliance of Genome Resources
DOID:4006	bladder urothelial carcinoma Aliases: bladder transitional cell carcinoma transitional cell carcinoma of bladder urinary bladder urothelial carcinoma urothelial bladder carcinoma	KDM6A	7403	Homo sapiens (human)	Alliance of Genome Resources
DOID:13948	bladder neck obstruction Aliases: Obstruction of bladder neck or vesicourethral orifice	CYP19A1	1588	Homo sapiens (human)	Alliance of Genome Resources
DOID:365	bladder disease Aliases: Urinary Bladder Disease	CHRM3	1131	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111079	birdshot chorioretinopathy Aliases: BSCR birdshot chorioretinitis birdshot retinochoroiditis birdshot retinochoroidopathy vitiliginous choroiditis	HLA-B	3106	Homo sapiens (human)	Alliance of Genome Resources
DOID:3312	bipolar disorder Aliases: Manic Bipolar Affective disorder Manic Depressive disorder Manic bipolar I disorder bipolar depression bipolar disorder manic phase manic depression manic disorder mixed bipolar disorder	AKT1 ANK3 AVPR1B BMAL1 BRD1 CCL2 CHRM2 CHRNB3 COMT GABRA3 GABRA5 GAD1 GRIN2A GRIN2B GSK3B HTR2C IMPA2 KAT6B MBL2 NCAM1 NGF NRG1 PER3 SLC18A1 SLC6A4 SSTR5 SYNE1	1129 1142 1312 207 23345 23522 23774 2556 2558 2571 288 2903 2904 2932 3084 3358 3613 406 4153 4684 4803 553 6347 6532 6570 6755 8863	Homo sapiens (human)	Alliance of Genome Resources
DOID:856	biotinidase deficiency Aliases: BTD deficiency Juvenile-onset multiple carboxylase deficiency Late-onset multiple carboxylase deficiency deficiency of biotinidase	BTD	686	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050659	biotin-responsive basal ganglia disease	SLC19A3	80704	Homo sapiens (human)	Alliance of Genome Resources
DOID:2741	bilirubin metabolic disorder Aliases: hereditary hyperbilirubinemia hyperbilirubinemia	ABCC2 HGF SLCO1B1 SLCO1B3 SOD2 UGT1A1	10599 1244 28234 3082 54658 6648	Homo sapiens (human)	Alliance of Genome Resources
DOID:4607	biliary tract cancer Aliases: malignant tumour of biliary tract	CYP1A1	1543	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050625	biliary tract benign neoplasm Aliases: extrahepatic bile duct neoplasm neoplasm of extrahepatic bile ducts tumor of the extrahepatic bile duct	ALB IL4 MTAP MUC1	213 3565 4507 4582	Homo sapiens (human)	Alliance of Genome Resources
DOID:13608	biliary atresia Aliases: Atresia of bile duct Congenital biliary atresia biliary atresia, congenital	ICAM1 SPP1	3383 6696	Homo sapiens (human)	Alliance of Genome Resources
DOID:4606	bile duct cancer Aliases: Ca extrahepatic bile ducts bile duct tumor malignant neoplasm of the extrahepatic bile duct	APOB APOE	338 348	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080924	bilateral perisylvian polymicrogyria	ADGRG1	9289	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080923	bilateral parasagittal parieto-occipital polymicrogyria Aliases: bilateral temporooccipital polymicrogyria	FIG4	9896	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080922	bilateral frontoparietal polymicrogyria	ADGRG1	9289	Homo sapiens (human)	Alliance of Genome Resources

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