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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 **15526 - 15550** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0112383	KINSSHIP syndrome Aliases: AFF3-related mesomelic dysplasia KINS Steichen-Gersdorf type mesomelic dysplasia	AFF3	3899	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111538	paramyotonia congenita of Von Eulenburg Aliases: Eulenburg disease PMC Von Eulenburg paramyotonia congenita myotonia congenita intermittens paralysis periodica paramyotonica paramyotonia congenita	SCN4A	6329	Homo sapiens (human)	Alliance of Genome Resources
DOID:4251	conjunctival disease	CLU IL6 TNFAIP6	1191 3569 7130	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111799	syndromic microphthalmia 1 Aliases: Lenz dysplasia Lenz microphthalmia Lenz type microphthalmia MCOPS1	BCOR	54880	Homo sapiens (human)	Alliance of Genome Resources
DOID:2217	Bernard-Soulier syndrome Aliases: Bernard - Soulier thrombopathy Bernard Soulier syndrome Giant platelet syndrome Hemorrhagic dystrophic thrombocytopenia Thrombopathy, Bernard-Soulier	GP1BA GP1BB GP9 VWF	2811 2812 2815 7450	Homo sapiens (human)	Alliance of Genome Resources
DOID:13270	erythropoietic protoporphyria Aliases: EPP Protoporphyria	ADP1	850369	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0111183	familial hemiplegic migraine 3 Aliases: FHM3 MHP3	SCN1A	6323	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111527	spinal muscular atrophy with progressive myoclonic epilepsy Aliases: Jankovic-Rivera syndrome SMA-PME SMAPME hereditary myoclonus-progressive distal muscular atrophy syndrome	ASAH1	427	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050152	aspiration pneumonia	ace	100144634	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:10456	tonsillitis Aliases: Throat infection - tonsillitis chronic tonsillitis	Igfbp3	24484	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111428	essential tremor 1 Aliases: ETM1 hereditary essential tremor 1	Drd3	29238	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:3969	thyroid gland papillary carcinoma Aliases: Papillary carcinoma of the Thyroid gland	Braf Cdh1 Ctnnb1 Minpp1 Myc Rap1gap Rxrg Srgap1 Trp53	109880 110351 117600 12387 12550 17330 17869 20183 22059	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:6364	migraine Aliases: migraine disorder migraine variant migraine with or without aura	Cacna1a Cacna1b Calca Cd40lg Ednra Esr1 Fos Htr7 Kcnk18 Nos3 Phactr1 Tnf Trpv1	12286 12287 12310 13617 13982 14281 15566 18127 193034 218194 21926 21947 332396	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14669	acrodysostosis	dnc	31309	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0050947	hereditary hypophosphatemic rickets with hypercalciuria	Slc34a1 Slc34a3	142681 20505	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080333	aortic valve disease 1	C27A7.3 enpp-1 glp-1	176286 179663 179665	Caenorhabditis elegans	Alliance of Genome Resources
DOID:14749	methylmalonic acidemia Aliases: methylmalonic aciduria	Mmut	17850	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:13207	proliferative diabetic retinopathy Aliases: PDR	Ccl2 Enpp2 Pdgfb Pparg Rbp4 Serpine1 Vegfa	24617 24628 24770 25664 25703 83785 84050	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:1800	neuroendocrine carcinoma	Eno2	13807	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111240	congenital muscular dystrophy-dystroglycanopathy type A2 Aliases: MDDGA2 Walker-Warburg syndrome or muscle-eye-brain disease, POMT2-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A2	POMT2	29954	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050588	muscular dystrophy-dystroglycanopathy type B1 Aliases: CMD due to dystroglycanopathy Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1	CG15651 CG3253 Dg rt	36773 37375 37861 39297	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0060741	methylmalonic acidemia due to transcobalamin receptor defect Aliases: methylmalonic acidemia, TCblR type methylmalonic aciduria due to transcobalamin receptor defect	Cd320	54219	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1459	hypothyroidism Aliases: Thyroid deficiency Thyroid insufficiency	cs mstnb ngfb pam plod3 slc26a5	322339 322846 556077 570822 58133 798441	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:2942	bronchiolitis	Octbeta2R	41549	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:12801	mucopolysaccharidosis III Aliases: Mucopolysaccharidosis, MPS-III N-sulphoglucosamine sulphohydrolase deficiency Sanfilippo's syndrome heparan sulfate sulfatase deficiency	Gns Hgsnat Naglu Sgsh	27029 27419 52120 75612	Mus musculus (house mouse)	Alliance of Genome Resources

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