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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 **7851 - 7875** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:3755	antithrombin III deficiency Aliases: AT III deficiency hereditary thrombophilia due to congenital antithrombin deficiency	Serpinc1	11905	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080301	atypical hemolytic-uremic syndrome	Adamts13 C3 Cd46 Cfb Cfh Cfhr1 Cfhr2 Cfhr4 Cfi Thbd	12266 12628 12630 14962 17221 214403 21824 279028 50702 545366	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050462	Antley-Bixler syndrome with disordered steroidogenesis Aliases: trapezoidocephaly-synostosis syndrome	Por	18984	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112348	hereditary spastic paraplegia 78 Aliases: SPG78 spastic paraplegia 78 autosomal recessive	Atp13a2	74772	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060244	specific language impairment	Cntnap2	66797	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112076	nuclear type mitochondrial complex I deficiency 13 Aliases: MC1DN13	Ndufa2	17991	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:11759	hypochromic anemia Aliases: ANEMIA HYPOCHROMIC	Slc11a2	18174	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:206	hereditary multiple exostoses Aliases: Multiple congenital exostosis Multiple exostosis syndromes Osteochondromatosis syndrome hereditary multiple exostoses 1 hereditary multiple exostoses 2 hereditary multiple exostoses 3 multiple ostechondromas	Ext1 Ext2 Extl1 Extl3	14042 14043 54616 56219	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110682	congenital myasthenic syndrome 16 Aliases: CMS16 congenital myasthenic syndrome acetazolamide-responsive	Scn4a	110880	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080133	multiple mitochondrial dysfunctions syndrome 1 Aliases: NFU1 deficiency	Nfu1	56748	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112219	developmental and epileptic encephalopathy 84 Aliases: DEE84 Jamuar syndrome early infantile epileptic encephalopathy 84	Ugdh	22235	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:6212	ovarian endometrial cancer Aliases: endometrioid neoplasm of Ovary malignant ovarian endometrioid tumor ovarian endometrioid neoplasm	Arhgef10l	72754	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050566	X-linked nonsyndromic deafness Aliases: X-linked deafness	Prpsap1	67763	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081368	Paget's disease of bone 5 Aliases: Familial osteoectasia Hereditary hyperphosphatasia Hyperostosis corticalis deformans juvenilis Juvenile Paget disease Paget disease of bone-5	Tnfrsf11b	18383	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:10966	lipoid nephrosis Aliases: Minimal Change Glomerulonephritis Minimal change disease Nephrotic syndrome with lesion of minimal change glomerulonephritis Nephrotic syndrome with lesion of minimal change nephrotic syndrome	Il13 Il17a Nr3c1 Stat6	14815 16163 16171 20852	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110909	inflammatory bowel disease 25 Aliases: IBD25 early onset autosomal recessive inflammatory bowel disease 25	Il10rb	16155	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111900	autosomal dominant thrombophilia due to protein S deficiency Aliases: THPH5	Pros1	19128	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112173	combined deficiency of vitamin K-dependent clotting factors 1 Aliases: VKCFD1	Ggcx	56316	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1790	malignant mesothelioma Aliases: Diffuse malignant Mesothelioma advanced malignant mesothelioma asbestos-related malignant mesothelioma malignant tumor of Mesothelium	Acvr1b Mcam Setd2	11479 235626 84004	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110367	retinitis pigmentosa 38 Aliases: RP38	Mertk	17289	Mus musculus (house mouse)	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	Trp53	22059	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:801	hemarthrosis Aliases: Haemarthrosis of shoulder joint Haemarthrosis of the ankle and foot Haemarthrosis of the pelvic region and thigh Hemarthrosis involving ankle and foot Hemarthrosis involving forearm Hemarthrosis involving hand Hemarthrosis involving lower leg Hemarthrosis involving pelvic region and thigh Hemarthrosis involving shoulder region Hemarthrosis involving upper arm Hemarthrosis of ankle and/or foot Hemarthrosis of forearm Hemarthrosis of hand Hemarthrosis of lower leg Hemarthrosis of shoulder Hemarthrosis of shoulder region Hemarthrosis of the ankle and foot Hemarthrosis of the ankle and/or foot Hemarthrosis of the forearm Hemarthrosis of the hand Hemarthrosis of the lower leg Hemarthrosis of the pelvic region and thigh Hemarthrosis of the shoulder region Hemarthrosis of the upper arm Hemarthrosis of upper arm	F8	14069	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111730	familial episodic pain syndrome 2 Aliases: FEPS2	Scn10a	20264	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111864	autosomal recessive congenital bilateral absence of vas deferens	Cftr	12638	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060957	myoclonic dystonia 34	Kcnn2	140492	Mus musculus (house mouse)	Alliance of Genome Resources

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