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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 **12576 - 12600** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:0080862	primary ovarian insufficiency 5	NOBOX	135935	Homo sapiens (human)	Alliance of Genome Resources
DOID:811	lipodystrophy	Bscl2 Ccl2 Ebf1 Lmna Pparg	13591 14705 16905 19016 20296	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:12119	hemosiderosis Aliases: haemosiderosis	CP	1356	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050711	aceruloplasminemia	CP	1356	Homo sapiens (human)	Alliance of Genome Resources
DOID:4724	brain edema Aliases: intracranial swelling wet brain	ABCC8 AQP1 AQP3 AQP4 AVPR1A C5 CACNA1B CP DMD F2 F2R GFAP ICAM1 KCNN4 MMP9 PLAT PLAU SCN3B SERPINE2 SERPINF1 SOD2 VEGFA	1356 1756 2147 2149 2670 3383 358 360 361 3783 4318 5176 5270 5327 5328 552 55800 6648 6833 727 7422 774	Homo sapiens (human)	Alliance of Genome Resources
DOID:893	Wilson disease Aliases: Cerebral pseudosclerosis Westphal pseudosclerosis Westphal-Strumpell syndrome Wilson's disease hepatolenticular degeneration	ANXA5 ATP7A ATP7B CP CYP27B1 HMGCR SMPD1	1356 1594 308 3156 538 540 6609	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060612	abdominal obesity-metabolic syndrome 3	Dyrk1b	13549	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050888	syndromic intellectual disability	Agap2 Anapc7 Dot1l Dyrk1b Ezh2 Fry Prpf19 Zmynd8	13549 14056 208266 216439 228880 28000 320365 56317	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060765	autosomal dominant Robinow syndrome 2 Aliases: DRS2	Dvl1	13542	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070485	mitochondrial complex IV deficiency nuclear type 23 Aliases: MC4DN23	COX11	1353	Homo sapiens (human)	Alliance of Genome Resources
DOID:7596	asbestos-related lung carcinoma	Adam28	13522	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060075	estrogen-receptor positive breast cancer	Adam28 Carm1 Pik3ca	13522 18706 59035	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2300	spondylolysis	Slc26a2	13521	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070300	multiple epiphyseal dysplasia 4 Aliases: EDM4 MED4 Polyepiphyseal dysplasia type 4 multiple epiphyseal dysplasia with bilateral patellae multiple epiphyseal dysplasia with clubfoot rMED	Slc26a2	13521	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080055	achondrogenesis type IB Aliases: achondrogenesis Fraccaro type	Slc26a2	13521	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050581	brachydactyly	Slc26a2	13521	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14687	diastrophic dysplasia	Slc26a2	13521	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050648	atelosteogenesis	Flnb Slc26a2	13521 286940	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070151	hereditary sensory and autonomic neuropathy type 6 Aliases: HSAN6 hereditary sensory and autonomic neuropathy type VI	Dst	13518	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060851	pemphigus vulgaris Aliases: familial pemphigus vulgaris	Dsg3 H2-Ab1	13512 14961	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110081	arrhythmogenic right ventricular dysplasia 10 Aliases: ARVC10 ARVD10 arrhythmogenic right ventricular cardiomyopathy 10 familial arrhythmogenic right ventricular dysplasia 10	Dsg2	13511	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110458	dilated cardiomyopathy 1BB Aliases: CMD1BB	Dsg2	13511	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081108	keratosis palmoplantaris striata 1	Dsg1a Dsg1b Dsg1c	13510 211924 225256	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110082	arrhythmogenic right ventricular dysplasia 11 Aliases: ARVC11 ARVD11 arrhythmogenic right ventricular cardiomyopathy 11 familial arrhythmogenic right ventricular dysplasia 11	Dsc2	13506	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14557	primary pulmonary hypertension Aliases: Idiopathic pulmonary arterial hypertension	ADORA2A ATP13A3 BMPR2 FGFR2 KCNK3 PPARG PTGIS RYR1 TNFSF4 TRIM63	135 2263 3777 5468 5740 6261 659 7292 79572 84676	Homo sapiens (human)	Alliance of Genome Resources

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