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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 **9426 - 9450** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0060737	junctional epidermolysis bullosa Herlitz type Aliases: Herlitz type epidermolysis bullosa junctionalis Herlitz-Pearson-type epidermolysis bullosa JEB-H JEB-Herlitz type epidermolysis bullosa letalis junctional epidermolysis bullosa generalisata gravis junctional epidermolysis bullosa, Herlitz-Pearson type	Itga6 Lamb3 Lamc2	16403 16780 16782	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2870	endometrial adenocarcinoma Aliases: adenocarcinoma of endometrium adenocarcinoma of the Endometrium adenocarcinoma of uterus endometrial adenoacanthoma endometrial endometrioid adenocarcinoma endometrial endometrioid adenocarcinoma with squamous differentiation endometrioid adenoma or carcinoma endometrioid adenomas and carcinomas endometrioid carcinoma of Endometrium	Angpt1 Angpt2 Arid1a Cd55 Cd55b Kras Pik3r1 Tgfbr3 Trp53	11600 11601 13136 13137 16653 18708 21814 22059 93760	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:654	overnutrition	Nos3	24600	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:576	proteinuria	ACE ADD3 AGER AGTR1 ALB B2M C6 CD55 CFH CLU COL4A5 F7 HAVCR1 HIF1A ICAM1 IFNB1 IL1RN IL6 LAMB2 LEPR MGAT5 MMP2 MYH9 NCKAP5 NPHS1 NPHS2 NPNT NPPB OPTN OSGEP PLA2G7 PON1 SDC1 SERPINA1 SLC9A1 SNRPD1 SORCS1 TGFB1 TLR9 TMEM67 TRPC6 VEGFA VTN	10133 114815 1191 120 1287 1604 1636 177 185 213 2155 255743 26762 3075 3091 3383 344148 3456 3557 3569 3913 3953 4249 4313 4627 4868 4879 5265 54106 5444 55644 567 6382 6548 6632 7040 7225 729 7422 7448 7827 7941 91147	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111158	SADDAN Aliases: SADDAN dysplasia severe achondroplasia with developmental delay and acanthosis nigricans	FGFR3	2261	Homo sapiens (human)	Alliance of Genome Resources
DOID:13381	pernicious anemia Aliases: ANEMIA PERNICIOUS Addison's anaemia Biermer's anaemia Biermer's anemia pernicious anaemia	CBLIF	2694	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110214	cleft soft palate Aliases: cleft velum cleft velum palatinum soft cleft palate	daf-4	175781	Caenorhabditis elegans	Alliance of Genome Resources
DOID:2187	amelogenesis imperfecta	CG31145	42784	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:1520	colon carcinoma Aliases: Colonic carcinoma carcinoma of colon	Axn Calr Lerp	41166 43223 43565	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:2999	granulosa cell tumor Aliases: Granulosa cell neoplasm Granulosa cell tumor, adult type Granulosa cell tumour, sarcomatoid malignant granulosa cell neoplasm	Amh Ctnnb1 Fshr Lhcgr Ptgs2 Vegfa	25378 25449 25477 29527 83785 84353	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050882	spinocerebellar ataxia type 5	Sptbn1	20742	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:10128	venous insufficiency Aliases: peripheral venous insufficiency	ICAM1	3383	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060276	pontocerebellar hypoplasia type 7	Toe1	68276	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1324	lung cancer	hs3st2.L hs3st2.S mpzl3.L ttr.L	108701605 108703165 379105 397787	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0060036	intrinsic cardiomyopathy	Tnnt2	24837	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080626	corticosterone methyloxidase deficiency 1 Aliases: aldosterone synthase deficiency	CYP11B2	1585	Homo sapiens (human)	Alliance of Genome Resources
DOID:14723	beta-ketothiolase deficiency Aliases: 2-methyl-3-hydroxybutyricacidemia 3-ketothiolase deficiency 3-oxothiolase deficiency Mitochondrial acetoacetyl-CoA Thiolase deficiency alpha-methylacetoaceticaciduria peroxisomal thiolase deficiency	ACAT1	38	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111723	Jacobsen Syndrome Aliases: Jacobsen distal 11q deletion syndrome chromosome 11q deletion syndrome partial 11q monosomy syndrome	FEZ2	9637	Homo sapiens (human)	Alliance of Genome Resources
DOID:9155	mucocutaneous leishmaniasis Aliases: American cutaneous leishmaniasis American mucocutaneous leishmaniasis Cutaneous leishmaniasis, American Mucocutaneous leishmaniasis, American New World cutaneous leishmaniasis	LTA TNF	4049 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060272	pontocerebellar hypoplasia type 3	PCLO	27445	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080177	hepatic veno-occlusive disease Aliases: veno-occlusive disease	Adamts13 Hfe Mmp9	15216 17395 279028	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1742	drug psychosis Aliases: Drug-induced psychosis Drug-induced psychotic disorder	Drd2 Gad1 Oprm1	13489 14415 18390	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081097	Rafiq syndrome Aliases: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15	mans-3	180787	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0060280	primary pigmented nodular adrenocortical disease	PRKAR1A	5573	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111412	exudative vitreoretinopathy 1 Aliases: EVR1	Fzd4	14366	Mus musculus (house mouse)	Alliance of Genome Resources

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