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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 **15451 - 15475** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0110296	autosomal recessive limb-girdle muscular dystrophy type 2M Aliases: LGMD2M MDDGC4 muscular dystrophy-dystroglycanopathy (limb-girdle) type C 4	Fktn	362520	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050573	2-hydroxyglutaric aciduria	L2HGDH	35156	Drosophila melanogaster (fruit fly)	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:10763	hypertension Aliases: HTN hyperpiesia vascular hypertensive disorder	CDC19 CTS2 EMI2 ENO1 ENO2 ERR1 ERR2 ERR3 GLK1 GLR1 HXK1 HXK2 OGG1 PEP4 PYK2 RHO1 TIF4631 TIF4632 VVS1 YBT1 YLR001C	850317 850614 850678 850687 851193 851977 852128 852543 852639 852833 853071 853169 854529 854575 854942 855373 855848 855949 856014 856294 856579	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0111232	congenital muscular dystrophy-dystroglycanopathy type A9 Aliases: MDDGA9 Walker-Warburg syndrome or muscle-eye-brain disease DAG1-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A9	Dag1	13138	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050589	inflammatory bowel disease	st6galnac1.1 st6galnac1.2 vegfaa	30682 564336 799868	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:445	Bartter disease Aliases: Aldosteronism with hyperplasia of the adrenal cortex Bartter's syndrome	Clcnkb Slc12a1	20495 56365	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0002116	pterygium Aliases: surfer's eye	Kdr Mmp2 Mmp9 Ogg1 Pecam1 Trp53 Vegfa Vegfc	16542 17390 17395 18294 18613 22059 22339 22341	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2559	opiate dependence Aliases: Opioid type dependence	STE6	853671	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0111062	familial hypobetalipoproteinemia 1 Aliases: FHBL1	APOB	338	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080572	congenital disorder of glycosylation Iw Aliases: congenital disorder of glycosylation 1w	Stt3a Stt3b	16430 68292	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081276	cerebellar atrophy, visual impairment, and psychomotor retardation Aliases: CAVIPMR	Emc1	230866	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070216	familial hyperinsulinemic hypoglycemia 3 Aliases: HHF3 hyperinsulinemic hypoglycemia due to glucokinase deficiency hyperinsulinism due to glucokinase deficiency	GCK	2645	Homo sapiens (human)	Alliance of Genome Resources
DOID:1657	ventricular septal defect Aliases: Interventricular septal defect Ventricular septal abnormality	GATA4 IGF2 MMP9 NFATC1 SALL4	2626 3481 4318 4772 57167	Homo sapiens (human)	Alliance of Genome Resources
DOID:8947	diabetic retinopathy Aliases: Retinal abnormality - diabetes-related	C49C8.5 C53D5.5 T03D8.6 W01F3.2 W03G11.3 Y43C5A.2 acn-1 daf-2 gpd-1 gpd-3 gpd-4 let-23 pat-3 poml-1 poml-2 skn-1 spe-9 srp-3 ver-1 ver-3 ver-4 zmp-4	171619 171999 173042 174462 174578 174603 175182 175410 175504 177343 177668 177911 178672 179991 180351 180364 180601 180780 181289 186632 187297 189173	Caenorhabditis elegans	Alliance of Genome Resources
DOID:3840	craniopharyngioma Aliases: neoplasm of Rathke's Pouch	PDGFRA	5156	Homo sapiens (human)	Alliance of Genome Resources
DOID:4724	brain edema Aliases: intracranial swelling wet brain	W01F3.2 gnrr-4 ntr-1 ntr-2 srp-6 zmp-2 zmp-4	175383 179125 179991 180351 180841 184471 188227	Caenorhabditis elegans	Alliance of Genome Resources
DOID:431	myofascial pain syndrome	Ngf Ntrk1	310738 59109	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:10595	Charcot-Marie-Tooth disease Aliases: CMT - Charcot-Marie-Tooth disease	Aars1 Cadm3 Fbln5 Itpr3 Jag1 Mpz Mtmr1 Mtmr9 Nefl Pmp22 Slc12a6 Tnfrsf11b Yars1	107271 107723 16440 16449 17528 18039 18383 18858 210376 234734 23876 53332 94332	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080556	congenital disorder of glycosylation Id Aliases: congenital disorder of glycosylation 1d	Alg3	287983	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:1222	cartilage disease Aliases: Cartilage disorder Chondropathy	BMP4 MMP3	4314 652	Homo sapiens (human)	Alliance of Genome Resources
DOID:10113	trypanosomiasis	A2m Bche Il4	12038 16189 232345	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1949	cholecystitis Aliases: acute and chronic cholecystitis acute cholecystitis acute on chronic cholecystitis chronic cholecystitis	ABCB4	5244	Homo sapiens (human)	Alliance of Genome Resources
DOID:1273	respiratory syncytial virus infectious disease Aliases: RSV respiratory syncytial virus	ace2 ngfb	492331 58133	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:14261	fragile X syndrome Aliases: FRAGILE X MENTAL RETARDATION SYNDROME MARKER X SYNDROME MARTIN-BELL SYNDROME	FMR1 FXR1 FXR2 MMP9	2332 4318 8087 9513	Homo sapiens (human)	Alliance of Genome Resources

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