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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 **10326 - 10350** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0090074	hypogonadotropic hypogonadism 8 with or without anosmia	Kiss1r	114229	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090031	D-bifunctional protein deficiency	Hsd17b4	15488	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111394	mucopolysaccharidosis type IIIB Aliases: MPS3B MPSIIIB Mucopoly-saccharidosis type 3B Mucopolysaccharidosis type 3B N-acetyl-alpha-glucosaminidase deficiency NAGLU deficiency Sanfilippo syndrome type B mucopolysaccharidosis type IIIB (Sanfilippo B)	Naglu	27419	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050921	pharynx squamous cell carcinoma	Clptm1l	218335	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111671	primary hyperoxaluria type 2 Aliases: D-glycerate dehydrogenase deficiency HP2 L-glyceric aciduria glyoxylate reductase/hydroxypyruvate reductase deficiency oxalosis II	Grhpr	76238	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111156	spermatogenic failure 9 Aliases: globozoospermia male infertility due to round-headed spermatozoa	Dpy19l2	320752	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060573	von Willebrand's disease 1 Aliases: VWD type 1 VWD1 von Willebrand disease type 1 von Willebrand disease type I	Itga2 Itga2b Plat Vwf	16398 16399 18791 22371	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112297	spondylometaphyseal dysplasia corner fracture type Aliases: SMDCF spondylometaphyseal dysplasia Sutcliffe type	Fn1	14268	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3319	lymphangioleiomyomatosis Aliases: lung lymphangioleiomyomatosis lymphangiomyomatosis pulmonary lymphangioleiomyomatosis	Cpt1a Esr1 Gapdh Gls Mmp9 Nos3 Srf Stat3 Tsc1	12894 13982 14433 14660 17395 18127 20807 20848 64930	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111797	autosomal recessive congenital nystagmus Aliases: autosomal recessive congenital motor nystagmus	Robo1	19876	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060735	epidermolysis bullosa simplex Dowling-Meara type Aliases: EBS-gen sev EBSDM epidermolysis bullosa herpetiformis Dowling-Meara type epidermolysis bullosa simplex, herpetiformis generalized severe epidermolysis bullosa simplex	Krt5	110308	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:8411	kidney angiomyolipoma Aliases: Angiomyolipoma of kidney renal Angiomyolipoma	Mtor	56717	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110196	Charcot-Marie-Tooth disease type 4G Aliases: CMT4G Charcot-Marie-Tooth neuropathy type 4G HMSNR autosomal recessive Charcot-Marie-Tooth disease type 4G hereditary motor and sensory neuropathy Russe type	Hk1	15275	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:5940	malignant peripheral nerve sheath tumor Aliases: malignant neoplasm of the peripheral nerve Sheath	Trp53	22059	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080738	Ehlers-Danlos syndrome spondylodysplastic type 1	B4galt7	218271	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:288	endometriosis of uterus Aliases: Endometriosis interna Endometriosis of myometrium Endometriosis, myometrium adenomyosis uterine Adenomyosis	Dnmt1	13433	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081002	Cowden syndrome 6	Akt1	11651	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081169	Leber congenital amaurosis 19	Usp45	77593	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080324	tuberous sclerosis 1	Tsc1	64930	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060814	Wilson-Turner syndrome Aliases: MRXS6 WTS X-linked intellectual disability-gynecomastia-obesity syndrome mental retardation, X-linked, syndromic 6 mental retardation, X-linked, with gynecomastia and obesity	Las1l	76130	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2228	thrombocytosis Aliases: Thrombocythaemia	Calr Cpb2 Mpl Thpo	12317 17480 21832 56373	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050816	urofacial syndrome Aliases: Ochoa syndrome hydronephrosis with peculiar facial expression	Hpse2 Lrig2	269473 545291	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110985	Joubert syndrome 16 Aliases: JBTS16	Tmem138	72982	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111315	idiopathic generalized epilepsy 14 Aliases: EIG14	Slc12a5	57138	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070337	epithelial recurrent erosion dystrophy Aliases: COL17A1 ERED	Col17a1	12821	Mus musculus (house mouse)	Alliance of Genome Resources

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