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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 **2801 - 2825** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:218	ascending colon cancer Aliases: Ca ascending colon malignant neoplasm of right colon malignant tumor of ascending colon	plr-1	176575	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0111393	mucopolysaccharidosis type IIIC Aliases: Acetyl-CoA alpha-glucosaminide acetyltransferase deficiency HGSNAT deficiency Heparan-alpha-glucosaminide N-acetyltransferase deficiency MPS3C MPSIIIC Mucopolysaccharidosis type 3C Sanfilippo syndrome type C mucopolysaccharidosis type IIIC (Sanfilippo C)	GNS HGSNAT SGSH	138050 2799 6448	Homo sapiens (human)	Glyco-Disease Genes Database Glyco-Disease Genes Database Glyco-Disease Genes Database Alliance of Genome Resources
DOID:1035	aggressive NK-cell leukemia Aliases: aggressive NK-cell leukaemia large granular Lymphocyte Leukemia, NK-cell type natural killer cell leukaemia natural killer cell leukemia	Tp53	24842	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060801	MEHMO syndrome Aliases: MRXS20 MRXS25 X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity syndromic X-linked mental retardation 20 syndromic X-linked mental retardation 25	EIF2S3	1968	Homo sapiens (human)	Alliance of Genome Resources
DOID:9266	cystinuria	Slc3a1	29484	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110943	autosomal recessive osteopetrosis 2 Aliases: OPTB2 mild autosomal recessive form osteopetrosis osteoclast-poor osteopetrosis	Tnfsf11	117516	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110670	congenital myasthenic syndrome 9 Aliases: CMS9 congenital myasthenic syndrome 9, associated with acetylcholine receptor deficiency	Nrk	36445	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:2739	Gilbert syndrome Aliases: Constitutional hyperbilirubinemia Gilbert's disease Gilbert's syndrome Gilbert-Meulengracht syndrome hereditary nonhemolytic jaundice	ugt1a7 ugt1ab	100384891 406731	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0060892	late onset Parkinson's disease Aliases: late onset Parkinson disease	TIF4631 TIF4632	852833 853071	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0050120	hemophagocytic lymphohistiocytosis Aliases: haemophagocytic syndrome	CD163	9332	Homo sapiens (human)	Alliance of Genome Resources
DOID:2234	focal epilepsy Aliases: localisation-related epilepsy partial epilepsy	CNR1 DEPDC5 MMP9	1268 4318 9681	Homo sapiens (human)	Alliance of Genome Resources
DOID:8566	herpes simplex Aliases: Herpesvirus hominis disease	APOE IRF5 MBL2	348 3663 4153	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110711	congenital hypotrichosis with juvenile macular dystrophy Aliases: Hjmd hypotrichosis with cone-rod dystrophy	CDH3	1001	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080899	lung pleomorphic carcinoma	Slc3a2	50567	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060639	permanent neonatal diabetes mellitus Aliases: PDMI PNDM permanent diabetes mellitus of infancy	ins.L ins.S	378695 378696	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:8778	Crohn's disease Aliases: Crohn disease Crohn's disease of colon Crohn's disease of large bowel Granulomatous Colitis Pediatric Crohn's disease	ATG26 FAB1 GIT1 PHO8 SMF3 STE6	850462 850574 850721 850886 852092 853671	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0060131	alexithymia	Ankk1 Slc6a4	15567 244859	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:11664	nephrosclerosis Aliases: renal sclerosis	ADRB1 PTGDS	153 5730	Homo sapiens (human)	Alliance of Genome Resources
DOID:7148	rheumatoid arthritis Aliases: Arthritis or polyarthritis, rheumatic atrophic Arthritis	adamts5	100488158	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0081340	congenital myopathy 2C	ACTA1	58	Homo sapiens (human)	Alliance of Genome Resources
DOID:9253	gastrointestinal stromal tumor Aliases: GANT GIST Stromal tumor of gastrointestinal tract Stromal tumour of gastrointestinal tract gastrointestinal stromal tumour	Bag6 Csf1r Kit Sdhc Setd2 Shh Slco1b2 Stim1	12978 16590 20423 20866 224727 235626 28253 66052	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2723	dermatitis Aliases: eczema skin inflammation	Octbeta2R	41549	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0080005	bone remodeling disease	IDH2	3418	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110107	atrial heart septal defect 2 Aliases: ASD2 atrial septal defect 2	Gata4	14463	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111365	benign familial hematuria Aliases: BFH TMN thin basement membrane nephropathy thin membrane nephropathy	COL4A3 COL4A4	1285 1286	Homo sapiens (human)	Alliance of Genome Resources

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