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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 **3051 - 3075** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0090136	complex cortical dysplasia with other brain malformations 6 Aliases: CDCBM56	Tubb5	22154	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:11294	arteriovenous malformation Aliases: Arteriovenous hemangioma Cirsoid aneurysm Racemose Angioma Racemose aneurysm Racemose hemangioma	Acvrl1 Map2 Mmp9	25237 25595 81687	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:9733	renal tuberculosis Aliases: Tuberculosis of kidney	Il4r	25084	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:1067	open-angle glaucoma Aliases: Wide-angle glaucoma glaucoma simplex open angle glaucoma pigmentary glaucoma	Octbeta2R	41549	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0050830	peripheral artery disease	Adipoq Dab2ip Npy1r Npy2r Npy5r P2ry12	11450 18166 18167 18168 69601 70839	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070041	autosomal dominant intellectual developmental disorder 11 Aliases: MRD11 autosomal dominant mental retardation 11 autosomal dominant non-syndromic intellectual disability 11	EPB41L1	2036	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110187	Charcot-Marie-Tooth disease type 4K Aliases: CMT4K SURF1-related CMT4 SURF1-related Charcot-Marie-Tooth disease type 4 SURF1-related severe demyelinating Charcot-Marie-Tooth disease autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4K autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy type 4K	SURF1	6834	Homo sapiens (human)	Alliance of Genome Resources
DOID:11984	hypertrophic cardiomyopathy Aliases: hypertrophic obstructive cardiomyopathy	CIT1 CIT2 CIT3	850361 855732 856107	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0080227	autosomal dominant intellectual developmental disorder 55 Aliases: autosomal dominant intellectual developmental disorder-55 with seizures autosomal dominant mental retardation 55	nus1	436629	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0060789	hypomyelinating leukodystrophy 4 Aliases: HLD4 MitCHAP60 disease Pelizaeus-Merzbacher-like disease due to HSPD1 mutation mitochondrial HSP60 chaperonopathy	HSPD1	3329	Homo sapiens (human)	Alliance of Genome Resources
DOID:1724	duodenal ulcer Aliases: Curling Ulcer Curling's ulcers Stress Ulcer	NFT1 SMF3 TRE1 TRE2 VPS70	850721 853590 853978 854430 855927	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0112004	immunodeficiency 71 Aliases: IMD71 PLTEID immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia platelet abnormalities with eosinophilia and immune-mediated inflammatory disease	ARPC1B	10095	Homo sapiens (human)	Alliance of Genome Resources
DOID:5733	salpingitis	Cftr	24255	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110525	autosomal recessive nonsyndromic deafness 77 Aliases: DFNB77 autosomal recessive deafness 77	Loxhd1	240411	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1064	cystinosis Aliases: cystine storage disease	CTNS	1497	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112159	autosomal dominant nonsyndromic deafness 78 Aliases: DFNA78	slc12a2	415170	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:3407	carotid artery disease Aliases: disorder of carotid artery	AGER AGT AGTR1 B2M CD14 CD40LG CD63 CETP CTSS FGB HFE HGF HSPD1 HSPG2 IL10 LTA LTB4R LUM MMP1 MMP2 MMP8 MMP9 NAMPT PAPPA PGF PLA2G7 PPARG PRL PTGDS SELPLG SOD2 SREBF2 TGFB1 TLR4 TNFRSF11B UCP2 VCAM1 VWF	10135 1071 1241 1520 177 183 185 2244 3077 3082 3329 3339 3586 4049 4060 4312 4313 4317 4318 4982 5069 5228 5468 5617 567 5730 6404 6648 6721 7040 7099 7351 7412 7450 7941 929 959 967	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112262	leucine-sensitive hypoglycemia of infancy Aliases: LIH leucine-induced hypoglycemia	YBT1	850678	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:9008	psoriatic arthritis Aliases: arthritis psoriatica arthropathic psoriasis	zmp-3	178748	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0060350	adenine phosphoribosyltransferase deficiency Aliases: 2,8-dihydroxyadenine urolithiasis APRT deficiency	Aprt	48224	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0070539	Halperin-Birk syndrome Aliases: HLBKS NEDSOSB NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA, OPTIC ATROPHY, SEIZURES, AND STRUCTURAL BRAIN ANOMALIES	SEC31	851332	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:8955	sideroblastic anemia Aliases: ANEMIA SIDEROBLASTIC Anemia, hypochromic with iron loading	Calr	12317	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9743	diabetic neuropathy	C53D5.5 T03D8.6 daf-2 trpa-1	171619 175410 178118 180364	Caenorhabditis elegans	Alliance of Genome Resources
DOID:7474	malignant pleural mesothelioma Aliases: malignant mesothelioma of pleura	smo	30225	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0090019	sitosterolemia Aliases: phytosterolemia	Abcg5 Abcg8	27409 67470	Mus musculus (house mouse)	Alliance of Genome Resources

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