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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 **13701 - 13725** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0110639	congenital muscular dystrophy due to integrin alpha-7 deficiency Aliases: congenital muscular dystrophy with ITGA7 deficiency congenital muscular dystrophy with integrin alpha-7 deficiency congenital myopathy due to integrin alpha-7 deficiency	Itga7	81008	Rattus norvegicus (Norway rat)	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	Slc19a1 Tp53	24842 29723	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111903	thrombophilia due to HRG deficiency Aliases: THPH11 hereditary thrombophilia due to congenital HRG deficiency hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency	Hrg Hrgl1	171016 681544	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080454	developmental and epileptic encephalopathy 42 Aliases: DEE42 early infantile epileptic encephalopathy 42	Cacna1a	25398	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111035	CADASIL 1 Aliases: autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 1	Notch3	56761	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:12704	ataxia telangiectasia Aliases: Boder-Sedgwick syndrome Louis Bar syndrome	Ifng Il2	116562 25712	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110867	congenital stationary night blindness 1C Aliases: CSNB1C congenital stationary night blindness 1C autosomal recessive	Trpm1	361586	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0112127	HRPT-related hyperuricemia Aliases: HPRT deficiency, grade I HPRT partial deficiency HPRT-related gout HPRT-related hyperuricemia HPRT1 partial deficiency Kelley-Seegmiller syndrome hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency hypoxanthine guanine phosphoribosyltransferase deficiency, grade I hypoxanthine guanine phosphoribosyltransferase partial deficiency	Hprt1	24465	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080632	Fazio-Londe disease Aliases: riboflavin transporter deficiency neuronopathy	Slc52a3	311536	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:12336	male infertility	Bscl2 Fas	246097 361722	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:12804	mucopolysaccharidosis IV Aliases: Mucopolysaccharidosis, MPS-IV deficiency of N-acetylgalactosamine-6-sulphatase deficiency of chondroitinsulphatase galactosamine-6-sulfatase deficiency	Ccl11 Galns	292073 29397	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:14450	46 XX gonadal dysgenesis Aliases: ovarian dysgenesis	Fshr	25449	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:10303	sialadenitis Aliases: Sialoadenitis	Cd4	24932	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:1984	rectal benign neoplasm Aliases: Rectal tumor neoplasm of rectum rectum neoplasm	Pik3ca	170911	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:3191	nemaline myopathy Aliases: Nemaline body disease nemaline rod myopathy rod body disease rod myopathy	Actb Tnnt2	24837 81822	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111427	restrictive cardiomyopathy 3 Aliases: RCM3 familial restrictive cardiomyopathy 3	Tnnt2	24837	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0081276	cerebellar atrophy, visual impairment, and psychomotor retardation Aliases: CAVIPMR	Emc1	362643	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:1067	open-angle glaucoma Aliases: Wide-angle glaucoma glaucoma simplex open angle glaucoma pigmentary glaucoma	Il10 Il2 Myoc Pon1 Tnf	116562 24835 25325 81523 84024	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0070036	autosomal dominant intellectual developmental disorder 6 Aliases: MRD6 autosomal dominant mental retardation 6 autosomal dominant non-syndromic intellectual disability 6	Grin2b	24410	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0070145	hereditary sensory and autonomic neuropathy type 5 Aliases: HSAN5 hereditary sensory and autonomic neuropathy type V	Ngf	310738	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:13711	dental fluorosis Aliases: Intrinsic enamel discolouration of fluorosis Mottled teeth Mottling of enamel	Dnm1l	114114	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:5453	pulmonary venoocclusive disease Aliases: pulmonary veno-occlusive disease	Atf4 Eif2ak3 Kcnk3	29553 29702 79255	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:13976	peptic esophagitis Aliases: Peptic reflux disease Reflux oesophagitis reflux esophagitis	F11r Il13 Tnf	116479 116553 24835	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0070210	hereditary lymphedema IA Aliases: LMPH1A	Flt4	114110	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050336	hypophosphatemia	Slc34a1	25548	Rattus norvegicus (Norway rat)	Alliance of Genome Resources

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