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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 **4576 - 4600** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:0050475	Weill-Marchesani syndrome Aliases: GEMSS syndrome Marchesani-Weill Syndrome Mesodermal Dysmorphodystrophy, Congenital Spherophakia Brachymorphia Syndrome congenital mesodermal dystrophy	ADAMTS10 ADAMTS17 FBN1 LTBP2 TNF	170691 2200 4053 7124 81794	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070339	cerebellar hyplasia/atrophy, epilepsy, and global developmental delay	Oxr1	170719	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111434	optic atrophy 10 Aliases: OPA10 optic atrophy 10 with or without ataxia, mental retardation, and seizures	Rtn4ip1	170728	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112063	X-Linked immunodeficiency 74 Aliases: IMD74 TLR7 deficiency X-linked immunodeficiency 74,COVID-19-related respiratory insufficiency due to SARS-CoV-2 viral infection	Tlr7	170743	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060776	congenital diarrhea 5 with tufting enteropathy Aliases: DIAR5 congenital diarrhoea 5 with tufting enteropathy congenital familial intractable diarrhea with epithelial or epithelium abnormalities congenital familial intractable diarrhoea with epithelial or epithelium abnormalities congenital tufting enteropathy tufting enteropathy	Epcam	17075	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070270	hereditary nonpolyposis colorectal cancer type 8 Aliases: HNPCC8	Epcam	17075	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14791	Leber congenital amaurosis Aliases: LCA Leber's amaurosis Leber's congenital amaurosis Leber's disease	Cep290 Crb1 Crb2 Pals1 Prph2	170788 19133 216274 241324 56217	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050572	cone-rod dystrophy Aliases: cone-rod retinal dystrophy	Crb1	170788	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111541	pigmented paravenous chorioretinal atrophy Aliases: PPRCA	Crb1	170788	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110358	retinitis pigmentosa 12 Aliases: RP12	Crb1	170788	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110079	Leber congenital amaurosis 8 Aliases: LCA8	Crb1	170788	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3388	periodontal disease Aliases: disease of supporting structures of teeth periodontium disorder	Brinp3 Cd40lg Il15 Il21 Il24	170819 25670 286901 365769 84349	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:5517	stomach carcinoma Aliases: cancer of the stomach carcinoma of stomach gastric carcinoma	Erbb3 Erbb4 Fgfr2 Mmp2 Mmp9 Mutyh Parp1 Slc3a2 Sparc	170841 24791 25022 25591 29496 50567 59323 81686 81687	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050424	familial adenomatous polyposis Aliases: adenomatous polyposis of the colon	Mutyh	170841	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080410	familial adenomatous polyposis 2 Aliases: MUTYH-associated polyposis MUTYH-related attenuated FAP MUTYH-related attenuated familial adenomatous polyposis MUTYH-related attenuated familial polyposis coli	Mutyh	170841	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0112361	spondylocostal dysostosis 3 Aliases: SCDO3 autosomal recessive spondylocostal dysostosis 3	Lfng	170905	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110861	autosomal recessive polycystic kidney disease Aliases: Arpkd Pkhd1 Polycystic Kidney Disease, Infantile, Type I Polycystic Kidney and Hepatic Disease 1	Ace Akt1 Aqp1 C3 Cd14 Cftr Gpbar1 Panx1 Pik3ca Slc4a2	170911 24185 24232 24255 24310 24780 25240 315435 338443 60350	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060669	cerebral cavernous malformation Aliases: cavernous angiomatous malformations cerebral capillary malformations familial cavernous angioma	Kdr Pik3ca Pon1	170911 25589 84024	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:4511	breast angiosarcoma Aliases: hemangiosarcoma of the breast	Kdr Pik3ca	170911 25589	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:3450	cutaneous Paget's disease Aliases: Paget's disease of skin cutaneous Paget disease extramammary Paget's disease	Pik3ca	170911	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111162	epidermal nevus Aliases: nonepidermolytic keratinocytic nevus	Pik3ca	170911	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0081001	Cowden syndrome 5	Pik3ca	170911	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060075	estrogen-receptor positive breast cancer	Pik3ca	170911	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:1984	rectal benign neoplasm Aliases: Rectal tumor neoplasm of rectum rectum neoplasm	Pik3ca	170911	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080351	CLOVES syndrome Aliases: congenital lipomatous overgrowth, vascular malformations, and epidermal nevi	Pik3ca	170911	Rattus norvegicus (Norway rat)	Alliance of Genome Resources

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