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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 **4276 - 4300** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0111647	Schopf-Schulz-Passarge syndrome Aliases: SSPS eccrine tumors-ectodermal dysplasia keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis syndrome palmoplantar hyperkeratosis-cystic eyelids-hypodontia-hypotrichosis syndrome palmoplantar keratoderma-cystic eyelids-hypodontia-hypotrichosis syndrome	lin-44	171994	Caenorhabditis elegans	Alliance of Genome Resources
DOID:8689	anorexia nervosa	Htr4 Igfals	25324 79438	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080122	Alpers-Huttenlocher syndrome Aliases: Alper's syndrome Alpers disease Alpers progressive infantile poliodystrophy Alpers syndrome Alpers' disease or gray-matter degeneration Diffuse Cerebral Sclerosis of Schilder mitochondrial DNA depletion syndrome 4a progressive sclerosing poliodystrophy	Aqp4	25293	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:8552	chronic myeloid leukemia Aliases: CML CML - chronic Myelogenous Leukemia Myeloid Leukemia, chronic chronic granulocytic leukaemia chronic granulocytic leukemia chronic myelogenous leukaemia chronic myelogenous leukemia chronic myeloid leukaemia	ADP1 STE6	850369 853671	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0080109	infantile myofibromatosis Aliases: lipofibromatosis	Notch3 Pdgfrb	24629 56761	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060684	autosomal dominant nocturnal frontal lobe epilepsy 3 Aliases: ENFL3 nocturnal frontal lobe epilepsy 3	unc-38 unc-63	172105 172150	Caenorhabditis elegans	Alliance of Genome Resources
DOID:5327	retinal detachment	col2a1 fgfr1	394828 548648	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0060785	adult-onset autosomal dominant demyelinating leukodystrophy Aliases: ADLD adult-onset autosomal dominant leukodystrophy autosomal-dominant or late-onset type Pelizaeus-Merzbacher disease	Lmnb1	116685	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0070466	carpal tunnel syndrome 1 Aliases: CTS1	TTR	7276	Homo sapiens (human)	Alliance of Genome Resources
DOID:10016	multiple endocrine neoplasia type 2B Aliases: MEN type IIB MEN2B Multiple endocrine neoplasia, type 3 Wagenmann-Froboese syndrome mucosal neuroma syndrome	Ret	19713	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:13207	proliferative diabetic retinopathy Aliases: PDR	calu	407965	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:10611	protein-losing enteropathy Aliases: Enteropathy, exudative Exudative enteropathy	Cd55 Cd55b	13136 13137	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050648	atelosteogenesis	Flnb Slc26a2	13521 286940	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:865	vasculitis Aliases: Angiitis	Pxn Spn28Dc	34091 38326	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0050642	hypochromic microcytic anemia	Tnf	21926	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060836	isolated microphthalmia 4 Aliases: MCOP4	GDF6	392255	Homo sapiens (human)	Alliance of Genome Resources
DOID:1749	squamous cell carcinoma Aliases: epidermoid carcinoma malignant squamous cell tumor squamous carcinoma squamous cell Epithelioma squamous cell cancer	fgfr2	352940	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:7998	hyperthyroidism Aliases: overactive thyroid	CtsL1 InR Sod3 Spn28Dc Ugt301D1 Ugt302K1 Ugt303A1 Ugt304A1 Ugt316A1 Ugt35A1 Ugt35C1 Ugt35E2 Ugt36A1 Ugt36D1 Ugt36E1 Ugt36F1 Ugt37A2 Ugt37A3 Ugt37B1 Ugt37C1 Ugt37D1 Ugt37E1 Ugt49B1 Ugt49B2 kdn	31579 34091 35105 35137 35138 35139 36232 36546 37420 40079 41334 41573 41574 42538 42549 44058 53501 53502 53503 53506 53507 53511 53512 53583 53584	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:9258	Waardenburg syndrome Aliases: Waardenburg Shah syndrome Waardenburg's syndrome van der Hoeve Halbertsona Waardenburg syndrome	Ednrb Kitlg	50672 60427	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060611	abdominal obesity-metabolic syndrome	Gucy2c Lep Pparg Ppargc1a	25608 25664 25711 83516	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080141	mosaic variegated aneuploidy syndrome 1	BUB1B	701	Homo sapiens (human)	Alliance of Genome Resources
DOID:3457	invasive lobular carcinoma Aliases: Lobular carcinoma Lobular carcinoma of breast Lobular carcinoma of the breast	cdh1.S	100337618	Xenopus laevis (African clawed frog)	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.L	447380	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0080569	congenital disorder of glycosylation Ir Aliases: congenital disorder of glycosylation 1r	WBP1	856716	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0070098	oculocutaneous albinism type IV Aliases: OCA4	SLC45A2	51151	Homo sapiens (human)	Alliance of Genome Resources

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