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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 **1401 - 1425** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0110376	retinitis pigmentosa 41 Aliases: RP41	Prom1	19126	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:12361	Graves' disease Aliases: Grave's disease Graves disease exophthalmic goiter	ADIPOQ ADRB2 BTNL2 C4A C4B CAT CD40 CD40LG CTLA4 CYP1A1 DNMT1 FAS GC HLA-B HLA-DQA1 HLA-DQB1 HLA-DRB1 HLA-DRB3 ICAM1 IFNG IGF1R IL10 IL13 IL17A IL23R IL2 IL3 IL6 IL6R ITGB3 LTA OGG1 SERPINE1 SLC25A16 TG TNF TP53 TSHR VEGFA	149233 1493 154 1543 1786 2638 3106 3117 3119 3123 3125 3383 3458 3480 355 3558 3562 3569 3570 3586 3596 3605 3690 4049 4968 5054 56244 7038 7124 7157 720 721 7253 7422 8034 847 9370 958 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:3490	Noonan syndrome Aliases: Turner's phenotype, karyotype normal	Cbl F11 Igfals Kat6b Kras Plat Plg Ptpn11	109821 12402 16005 16653 18791 18815 19247 54169	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:112	esophageal varix Aliases: Bleeding esophageal varices Bleeding oesophageal varices esophageal varices esophageal varices in disease classified elsewhere, with bleeding esophageal varices with bleeding esophageal varices with bleeding in disease EC esophageal varices without bleeding esophageal varices without mention of bleeding	ALB	213	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081340	congenital myopathy 2C	Acta1	11459	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:13268	porphyria Aliases: Hematoporphyria Porphyrinopathy disorder of porphyrin and hem metabolism disorder of porphyrin metabolism	ACO1 ALAS1 EPO GBE1 IREB2	2056 211 2632 3658 48	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080548	Noonan syndrome with multiple lentigines 1 Aliases: LEOPARD syndrome 1	Ptpn11	19247	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9256	colorectal cancer	W01F3.2 adm-2 cdh-4 cest-1.2 daf-1 ddr-2 ges-1 glp-1 gly-5 gpx-3 gpx-5 grd-2 hda-4 hrpu-1 lad-2 let-23 lin-12 plr-1 skn-1 sma-6 stim-1 sup-17 unc-40 ver-1 ver-4 wrt-6 zmp-4	172233 172689 174044 174462 175182 175201 175590 176282 176286 176575 176736 176829 177078 177343 178421 178633 179914 179991 180349 180351 180622 180638 181178 181489 181723 182513 186632	Caenorhabditis elegans	Alliance of Genome Resources
DOID:1591	renovascular hypertension	ace	565980	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0050645	arterial tortuosity syndrome	slc2a10	780388	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0112198	spondyloepimetaphyseal dysplasia with joint laxity type 1 Aliases: SEMDJL1 spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	B3galt6	117592	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090140	cortisone reductase deficiency 2 Aliases: CORTRD2	HSD11B1	3290	Homo sapiens (human)	Alliance of Genome Resources
DOID:12449	aplastic anemia	kita	30256	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:11949	Creutzfeldt-Jakob disease Aliases: CJD Creutzfeldt Jacob syndrome Creutzfeldt Jakob disease Creutzfeldt-Jacob disease Jakob-Creutzfeldt disease Subacute spongiform encephalopathy Transmissible virus dementia	galc	779723	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0060589	Yunis-Varon syndrome Aliases: cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia cleidocranial dysplasia-micrognathia-absent thumbs syndrome	FIG4	855392	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:1883	hepatitis C Aliases: NANBH Viral hepatitis C chronic hepatitis C hepatitis C infection hepatitis nonA nonB	ldlr.L ldlr.S	373644 397757	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0080451	developmental and epileptic encephalopathy 29 Aliases: DEE29 early infantile epileptic encephalopathy 29	AARS1	16	Homo sapiens (human)	Alliance of Genome Resources
DOID:589	congenital hemolytic anemia Aliases: congenital hemolytic anaemia hereditary hemolytic anaemia hereditary hemolytic anemia	Gpi1 Gsr Slc4a1	14751 14782 20533	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081426	autosomal recessive distal hereditary motor neuronopathy 7	VWA1	64856	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050579	glycogen storage disease XV Aliases: Glycogen storage disease 15 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency glycogen storage disease type XV	gyg1	394883	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0080572	congenital disorder of glycosylation Iw Aliases: congenital disorder of glycosylation 1w	STT3A STT3B	201595 3703	Homo sapiens (human)	Alliance of Genome Resources
DOID:11963	esophagitis Aliases: acute esophagitis	Bmp4 Il4ra Ptgs2 Slc7a5 Tnf	12159 16190 19225 20539 21926	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:106	pleural tuberculosis Aliases: Pearly disease Tuberculosis of pleura Tuberculous pleurisy Tuberculous pleuritis tuberculous pleurisy in primary progressive tuberculosis	Ccr5 Il1rn Mmp9 Tlr4 Tnc	116640 117029 29260 60582 81687	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0070436	hyperphosphatasia with impaired intellectual development syndrome 4 Aliases: GPIBD62 HPMRS6 glycosylphosphatidylinositol biosynthesis defect 62 hyperphosphatasia with mental retardation syndrome 6	PGAP3	93210	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060488	Pitt-Hopkins syndrome	nlr-1	178167	Caenorhabditis elegans	Alliance of Genome Resources

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