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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 **4801 - 4825** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:1967	leiomyosarcoma Aliases: Leiomyosarcomas	Amhr2	29530	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080726	Ehlers-Danlos syndrome classic type 2	COL5A2	1290	Homo sapiens (human)	Alliance of Genome Resources
DOID:14761	Greig cephalopolysyndactyly syndrome Aliases: polysyndactyly with peculiars skull shape	Gli3	14634	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110306	autosomal dominant limb-girdle muscular dystrophy type 3 Aliases: LGMD1G autosomal dominant limb-girdle muscular dystrophy type 1G muscular dystrophy limb-girdle type 1G	HNRNPA1 HNRNPA3 HNRNPAB HNRNPD MSI1	220988 3178 3182 3184 4440	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111114	nephronophthisis 3 Aliases: NPH3 NPHP3	NPHP3	27031	Homo sapiens (human)	Alliance of Genome Resources
DOID:3049	Churg-Strauss syndrome Aliases: Allergic Granulomatous Angiitis Allergic granulomatosis angiitis Churg-Strauss vasculitis	Gdnf Gfra1	25453 25454	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111373	familial progressive hyperpigmentation with or without hypopigmentation Aliases: FPHH MUH melanosis universalis hereditaria	KITLG	4254	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110536	autosomal recessive nonsyndromic deafness 91 Aliases: DFNB91 autosomal recessive deafness 91	Spn42Dd	49808	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:14323	Marfan syndrome Aliases: Marfan's syndrome	W01F3.2 cri-2 daf-4 dbl-1 fbn-1 mua-3 timp-1 zmp-3 zmp-4	175781 176076 176430 178748 179068 179197 179199 179991 180351	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0081155	common variable immunodeficiency 13	IKZF1	10320	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080560	congenital disorder of glycosylation Ih Aliases: congenital disorder of glycosylation 1h	Alg8	381903	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070215	familial hyperinsulinemic hypoglycemia 4 Aliases: HHF4 hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency hyperinsulinism due to SCHAD deficiency hyperinsulinism due to glutamodehydrogenase deficiency hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency	Hadh	113965	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0070177	spermatogenic failure 22 Aliases: SPGF22	MEIOB	254528	Homo sapiens (human)	Alliance of Genome Resources
DOID:2531	hematologic cancer Aliases: Hematologic malignancy Hematologic neoplasm Hematological tumors blood cancer hematopoietic and lymphoid system tumor hematopoietic cancer hematopoietic neoplasm hematopoietic tumors malignant hematopoietic neoplasm	SIZ1	852018	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:2320	obstructive lung disease Aliases: respiratory airway obstruction	A2m	24153	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:5410	pulmonary neuroendocrine tumor	rnaset2	791890	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0111594	distal arthrogryposis type 5D Aliases: DA5D distal arthrogryposis type 5 without ophthalmoparesis distal arthrogryposis type 5 without ophthalmoplegia	ECEL1	9427	Homo sapiens (human)	Alliance of Genome Resources
DOID:2978	carbohydrate metabolic disorder Aliases: disorder of carbohydrate transport and metabolism inborn carbohydrate metabolism disorder inborn errors of carbohydrate metabolism	ACAT1 MPI OXCT1 TALDO1 TPI1	38 4351 5019 6888 7167	Homo sapiens (human)	Alliance of Genome Resources
DOID:9261	nasopharynx carcinoma Aliases: Nasopharyngeal carcinoma malignant Nasopharyngeal tumor malignant neoplasm of nasopharynx nasopharynx cancer	BUD2 PBS2	853313 853770	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:9119	acute myeloid leukemia Aliases: AML - acute Myeloid Leukemia Leukemia, Myelocytic, acute acute myeloblastic leukaemia acute myeloblastic leukemia acute myelogenous leukaemia acute myelogenous leukemia acute myeloid leukaemia	cxcr4 fgfr1	100038176 548648	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0111651	ectodermal dysplasia 15 Aliases: ECTD15 ectodermal dysplasia 15, hypohidrotic/hair type	cpi-1	177372	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0080095	myofibrillar myopathy 4 Aliases: zaspopathy	LDB3 PDLIM5 PDLIM7	10611 11155 9260	Homo sapiens (human)	Alliance of Genome Resources
DOID:363	uterine cancer Aliases: CA - cancer of uterus Tumour of uterus malignant neoplasm of uterus malignant uterine tumor neoplasm of uterus uterine tumor uterus neoplasm	KLK10 L1CAM	3897 5655	Homo sapiens (human)	Alliance of Genome Resources
DOID:2280	hidradenitis suppurativa Aliases: Acne inversa, familial	aph-2	172905	Caenorhabditis elegans	Alliance of Genome Resources
DOID:13909	red-green color blindness Aliases: Deutan defect Deuteranopia Reduced red-green discrimination	Opn1mw	14539	Mus musculus (house mouse)	Alliance of Genome Resources

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