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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 **6401 - 6425** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0070217	familial hyperinsulinemic hypoglycemia 6 Aliases: HHF6 HI/HA syndrome hyperinsulinism-hyperammonemia syndrome	GLUD1	2746	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111389	mucopolysaccharidosis Ih/s Aliases: MPS1H/S MPSIH/S Mucopolysaccharidosis type 1H/S	IDUA	3425	Homo sapiens (human)	Glyco-Disease Genes Database Glyco-Disease Genes Database Glyco-Disease Genes Database Alliance of Genome Resources
DOID:3594	choriocarcinoma Aliases: Chorioepithelioma	fgf8b	65089	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0080195	Marinesco-Sjogren syndrome Aliases: Garland-Moorhouse syndrome Marinesco-Garland syndrome Oligophrenic cerebellolenticular degeneration hereditary oligophrenic cerebello-lental degeneration	Sil1	291673	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060564	spinal disease	Penk	29237	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:8805	intermediate coronary syndrome Aliases: Angina at rest Anginal chest pain at rest Impending infarction Preinfarction angina Unstable angina Worsening angina	agtr1.L akt1.S hmgcr.L	397750 398763 399170	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0111636	autosomal recessive nonsyndromic deafness 113 Aliases: DFNB113 autosomal recessive deafness 113	Ceacam16	330483	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2361	macrocytic anemia Aliases: ANEMIA MACROCYTIC Macrocytic anaemia	Kit	16590	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050852	limb ischemia	cs fgfr1	548648 550067	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:13359	Ehlers-Danlos syndrome Aliases: Cutis hyperelastica elastic skin	b3galt6 b4galt7	100144979 548849	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:3602	toxic encephalopathy Aliases: neurotoxicity neurotoxicity syndrome	ABCB1 ABCG2 CAT DRD2 EPHA4 IGF1R IL10 SLC18A2	1813 2043 3480 3586 5243 6571 847 9429	Homo sapiens (human)	Alliance of Genome Resources
DOID:4644	epidermolysis bullosa simplex	shot	36542	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0060750	familial temporal lobe epilepsy 3 Aliases: FMTLE familial mesial temporal lobe epilepsy	STE6	853671	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0081350	congenital myopathy 18	Cacna1s	682930	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:1679	cystitis	Adcyap1r1 Bdnf Csf3 Esr2 Il2 Il4 Kdr Lta Mpo Muc5ac Ngf Ngfr Ptger4 Ptgs2 Sod1 Sod2 Tacr1 Tlr5 Tnf	11517 12064 12985 13983 16183 16189 16542 16992 17523 17833 18049 18053 19219 19225 20655 20656 21336 21926 53791	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081424	familial focal epilepsy with variable foci 4	Scn3a	20269	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050591	tooth agenesis Aliases: familial tooth agenesis hypodontia oligodontia selective tooth agenesis	dbl-1 lin-44	171994 179068	Caenorhabditis elegans	Alliance of Genome Resources
DOID:2058	chronic mucocutaneous candidiasis	CLEC7A IL17F IL17RC TRAF3IP2	10758 112744 64581 84818	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080979	arthrogryposis multiplex congenita-3	Msp300	3771968	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0080238	autosomal dominant intellectual developmental disorder 47 Aliases: autosomal dominant mental retardation 47	STAG1	10274	Homo sapiens (human)	Alliance of Genome Resources
DOID:2211	factor XIII deficiency Aliases: Factor XIII deficiency disease Hereditary factor XIII deficiency disease deficiency, Laki-Lorand factor	F13A1 LMAN1	2162 3998	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060075	estrogen-receptor positive breast cancer	ADAM28 PIK3CA	10863 5290	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050817	Stargardt disease Aliases: STARGARDT DISEASE 1	Abca4 Elovl4	11304 83603	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080846	latent autoimmune diabetes in adults Aliases: LADA type 1.5 diabetes	Ctla4	12477	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14283	primary hypertrophic osteoarthropathy Aliases: Pachydermoperiostosis of nail Pachydermoperiostosis syndrome	SLCO2A1	6578	Homo sapiens (human)	Alliance of Genome Resources

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