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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 **1526 - 1550** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0111242	congenital muscular dystrophy-dystroglycanopathy type A6 Aliases: MDDGA6 Walker-Warburg syndrome or muscle-eye-brain disease, LARGE-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A6	LARGE1	9215	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050572	cone-rod dystrophy Aliases: cone-rod retinal dystrophy	eys	557044	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0080982	X-linked mental retardation-hypotonic facies syndrome-1	Atrx	22589	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111237	congenital muscular dystrophy-dystroglycanopathy type A1 Aliases: MDDGA1 Walker-Warburg syndrome or muscle-eye-brain disease, POMT1-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A1	Pomt1	99011	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110839	Usher syndrome type 2C Aliases: USH2C Usher syndrome IIC Usher syndrome type IIC	Slc4a7	117955	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050731	vitamin B12 deficiency Aliases: cobalamin deficiency hypocobalaminemia	Calr Cd40lg Cfl1 Fut2 Pon1 Sec1	12317 12631 14344 18979 21947 56546	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060074	ductal carcinoma in situ	Areg Erbb3 Erbb4 Mmp2 Mmp9 Ptgs2 Tp53 Tymp Vegfa	24842 29183 29496 29527 315219 59323 81686 81687 83785	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0070163	spermatogenic failure 21	fs(1)h	31722	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0080322	polycystic kidney disease	xylt2	448400	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:10762	portal hypertension	ALOX5 ANGPT2 AVP AVPR1A BDKRB2 CCL2 CPEB1 CPEB4 CX3CL1 DBH EDN1 EDNRA EDNRB F5 FGFR2 HSP90AA1 MTOR NGFR NOS1 NOS3 NR1D1 PRL PTEN PTGS2 REN SERPINF1 TMEM67 TNF VASH1 VEGFA	1621 1906 1909 1910 2153 2263 22846 240 2475 285 3320 4804 4842 4846 5176 551 552 5617 5728 5743 5972 624 6347 6376 64506 7124 7422 80315 91147 9572	Homo sapiens (human)	Alliance of Genome Resources
DOID:2044	drug-induced hepatitis Aliases: Drug-induced chronic hepatitis	Abcc2 Hmgcr	12780 15357	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060394	chromosome 15q13.3 microdeletion syndrome Aliases: 15q13.3 microdeletion syndrome	Trpm1	361586	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:1094	attention deficit hyperactivity disorder Aliases: ADHD attention deficit disorder hyperkinetic disorder	ADGRE1 ADGRE5 ADGRL1 ADGRL2 ADGRL3 ADGRL4 ADRA2A AR BAIAP2 BDNF BRINP1 CALY CDH2 CHRNB2 COMT DBH DOCK3 DRD4 DRD5 FOXP2 GIT1 GRIN2B GRM8 HMGCR HTR1B LGALS3 MEF2A MEF2C MEF2D MMP9 NF1 NTRK2 PER1 PTCHD1 SLC6A2 SLC6A3 SLC6A4 SNAP25 TACR1 TPH1 UST VEGFA VPS4A	1000 10090 10458 1141 1312 139411 150 1620 1621 1795 1815 1816 2015 22859 23266 23284 27183 28964 2904 2918 3156 3351 367 3958 4205 4208 4209 4318 4763 4915 50632 5187 627 64123 6530 6531 6532 6616 6869 7166 7422 93986 976	Homo sapiens (human)	Alliance of Genome Resources
DOID:1875	impotence Aliases: Sexual impotence erectile dysfunction	kdr	554230	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0112374	muscular dystrophy-dystroglycanopathy Aliases: MDDG	Dag1 Pomt1 Pomt2	13138 217734 99011	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3132	porphyria cutanea tarda	Cyp1a1 Cyp1a2 Hfe	13076 13077 15216	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2300	spondylolysis	Slc26a2	13521	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110229	cataract 6 multiple types Aliases: CTRCT6	Epha2	13836	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:11054	urinary bladder cancer Aliases: bladder cancer tumor of the bladder	akt1.S cdh1.S fgfr3.S kit.L wif1.S	100337618 373579 399170 399347 399375	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:12241	beta thalassemia	Apob Cfb Col1a1 Gsr H2-Ab1 Hbs1l Hfe Hp Igfbp3 Il1a Pon1 Tnf	12842 14782 14961 14962 15216 15439 16009 16175 18979 21926 238055 56422	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081267	graft-versus-host disease Aliases: GvHD graft versus host disease	gbgt1l2 gbgt1l3 gbgt1l4 gbgt1l5 gbgt1l8 gbgt1l9 vegfaa	100005565 100005704 30682 387303 447881 563897 566487	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0111242	congenital muscular dystrophy-dystroglycanopathy type A6 Aliases: MDDGA6 Walker-Warburg syndrome or muscle-eye-brain disease, LARGE-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A6	large1.L large1.S	108704366 108712551	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0110217	Leber congenital amaurosis 17 Aliases: LCA17	Gdf6	252834	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080738	Ehlers-Danlos syndrome spondylodysplastic type 1	sqv-3	176382	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0060393	chromosome 15q11.2 deletion syndrome Aliases: 15q11.2 microdeletion syndrome	Cyfip2	76884	Mus musculus (house mouse)	Alliance of Genome Resources

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