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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 **3726 - 3750** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0111411	exudative vitreoretinopathy 4 Aliases: EVR4	LRP5	4041	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050185	erythema multiforme	CD40 CD40LG CD8A HLA-DQB1 VEGFA	3119 7422 925 958 959	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: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	148789	Homo sapiens (human)	Alliance of Genome Resources
DOID:10941	intracranial aneurysm Aliases: brain aneurysm	AGER AOC3 ARHGEF17 CCL2 CCN1 COL1A2 COL22A1 CTSB CTSK CTSS EDN1 ENG IL6 KLF5 KMT2D MMP12 MMP14 MMP2 MMP9 NOS3 PKD1 PKD2 TIMP1 TNF VCAN VEGFA VWF	1278 1462 1508 1513 1520 169044 177 1906 2022 3491 3569 4313 4318 4321 4323 4846 5310 5311 6347 688 7076 7124 7422 7450 8085 8639 9828	Homo sapiens (human)	Alliance of Genome Resources
DOID:12932	endomyocardial fibrosis Aliases: African endomyocardial fibrosis Becker's disease Endomyocardial sclerosis obscure African cardiomyopathy	ACE CCL2 CCN2 UTS2R	1490 1636 2837 6347	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050117	disease by infectious agent Aliases: infectious disease	ERCC5 MBL2 SERPIND1	2073 3053 4153	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070443	neurodevelopmental disorder with cerebellar atrophy and motor dysfunction	GEMIN5	25929	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070220	familial hyperinsulinemic hypoglycemia 5 Aliases: HHF5 hyperinsulinemic hypoglycemia due to INSR deficiency hyperinsulinemic hypoglycemia due to insulin receptor deficiency hyperinsulinism due to INSR deficiency	INSR	3643	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111496	combined oxidative phosphorylation deficiency 17 Aliases: COXPD17	ELAC2	60528	Homo sapiens (human)	Alliance of Genome Resources
DOID:1019	osteomyelitis	HLA-DQB1	3119	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060736	epidermolysis bullosa simplex Ogna type Aliases: EBS-O EBS-Og EBSOG	PLEC	5339	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080837	growth hormone insensitivity syndrome with immune dysregulation 2	STAT5B	6777	Homo sapiens (human)	Alliance of Genome Resources
DOID:9563	bronchiectasis Aliases: Polynesian bronchiectasis	CFTR MBL2 MMP9 TAP1 TNF	1080 4153 4318 6890 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:5593	gastric papillary adenocarcinoma Aliases: Papillary adenocarcinoma of stomach	GLI1 SMO	2735 6608	Homo sapiens (human)	Alliance of Genome Resources
DOID:8927	learning disability Aliases: Academic skill disorder learning disorder	IL1RN	3557	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080346	blepharocheilodontic syndrome 2	CTNND1	1500	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060697	hyperekplexia 2 Aliases: HKPX2	GLRB	2743	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060575	3MC syndrome 1	MASP1	5648	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070352	stress-induced childhood-onset neurodegeneration with variable ataxia and seizures Aliases: CONDSIAS	ADPRS BPHL PARG	54936 670 8505	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111404	Jalili syndrome Aliases: Cone rod dystrophy-amelogenesis imperfecta syndrome cone-rod dystrophy and amelogenesis imperfecta	CNNM4	26504	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090145	dopamine beta-hydroxylase deficiency Aliases: congenital dopamine beta-hydroxylase deficiency noradrenaline deficiency norepinephrine deficiency	DBH HSPA5 SLC6A2 SLC6A3	1621 3309 6530 6531	Homo sapiens (human)	Alliance of Genome Resources
DOID:4531	mucoepidermoid carcinoma Aliases: MEC	CDH1 CXCR4 DNMT1	1786 7852 999	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080821	exercise-induced bronchoconstriction Aliases: exercise-induced asthma	ALOX5 CCL5 TACR1	240 6352 6869	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060868	leukoencephalopathy with vanishing white matter Aliases: CACH CACH/VWM childhood ataxia with central nervous system hypomyelination vanishing white matter leukodystrophy	EIF2B1 EIF2B4	1967 8890	Homo sapiens (human)	Alliance of Genome Resources

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