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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB), DisGeNET, and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	July 29, 2024
DisGeNET	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **5751 - 5775** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism
DOID:9206	Barrett's esophagus Aliases: Barrett esophagus Barrett's esophagus with esophagitis Barrett's oesophagus Barrett's ulcer of esophagus Barretts syndrome ulcerative esophagitis	sqv-8	174517	Caenorhabditis elegans
DOID:0111241	congenital muscular dystrophy-dystroglycanopathy type A5 Aliases: MDDGA5 Walker-Warburg syndrome or muscle-eye-brain disease, FKRP-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5	Fkrp	308390	Rattus norvegicus (Norway rat)
DOID:0060467	humeroradial synostosis	ALDH2 B3GAT3 B4GALT7 CHST3 COLEC10 COLEC11 EXT1 EXT2 HSPG2 MASP1 PIK3CA PRKAA2 PTDSS1 SMC3 UMOD XYLT1	10584 11285 2131 2132 217 26229 3339 5290 5563 5648 64131 7369 78989 9126 9469 9791	Homo sapiens (human)
DOID:0070303	multiple epiphyseal dysplasia 1 Aliases: EDM1 MED1 multiple epiphyseal dysplasia COMP-related polyepiphyseal dysplasia type 1	Tsp	33941	Drosophila melanogaster (fruit fly)
DOID:0050766	choreaacanthocytosis Aliases: Levine-Critchley syndrome choreo-acanthocytosis	EFNA5 GPLD1 HADHA HADHB HSD11B1 HSPG2 IL18R1 LCAT LGALS1 LPL PIK3C2A PIK3CA PIK3CB PIK3CD PIK3CG PLA2G10 PLA2G2A PLA2G7 ST8SIA4	1946 2822 3030 3032 3290 3339 3931 3956 4023 5286 5290 5291 5293 5294 5320 7903 7941 8399 8809	Homo sapiens (human)
DOID:10608	celiac disease Aliases: celiac sprue coeliac disease idiopathic steatorrhea	ACACA ACE ACSL5 AGA ALG3 ASAH2 B3GAT1 BCKDHB CD14 CD1D CD209 CD38 CD44 CD48 CLC CLEC10A CLEC16A DAG1 DGAT1 FUT2 FUT4 GAD1 GAD2 GBGT1 GLB1 HPGDS ICAM1 IL18R1 IL18RAP ISYNA1 KLRK1 L1CAM LCT LGALS1 LPL LYZ MBL2 MICA MPI NCAM1 NT5E PARP1 PCK1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G4A PNPLA2 PNPLA3 PTEN SDC1 SELE SELL SOAT2 UGT1A4 VNN1 VTCN1 YDJC	100507436 10195 10462 1178 142 150223 1605 1636 175 22914 23274 2524 2526 2571 2572 26301 27087 2720 27306 30835 31 3383 3897 3938 3956 4023 4069 4153 4351 4684 4907 5105 51477 51703 5290 5291 5293 5294 5321 54657 56624 57104 5728 594 6382 6401 6402 79679 80339 8435 8694 8807 8809 8876 912 929 952 960 962	Homo sapiens (human)
DOID:2560	morphine dependence	Comt	24267	Rattus norvegicus (Norway rat)
DOID:9452	steatotic liver disease Aliases: Fatty change of liver SLD Steatosis of liver alcoholic fatty liver fatty liver disease hepatic lipidosis hepatic steatosis	dgat2 ins	30262 565316	Danio rerio (zebrafish)
DOID:8283	peritonitis Aliases: Retractile mesenteritis acute generalized peritonitis primary bacterial peritonitis sclerosing mesenteritis	Ald1	43183	Drosophila melanogaster (fruit fly)
DOID:13417	alexia Aliases: Aphemesthaesia acquired dyslexia	ARSD COMT CYP19A1 DGKI DLD EPM2A GNPTAB GNPTG NAGPA NCAN PARP1 PLA2G6 PTGES3	10728 1312 142 1463 1588 1738 414 51172 79158 7957 8398 84572 9162	Homo sapiens (human)
DOID:216	dental caries Aliases: Dental caries extending into pulp Dental caries of smooth surface Dental caries pit and fissure	ACE AGA ALOX15 ALPL ATP6V0A2 ATP6V1A CALR CD14 COG6 COMT DAG1 FCN2 GALK2 GALNS GLB1 GLUL IDUA ITPKB LYZL2 MBL2 MTM1 MTMR3 NDUFAB1 OCRL PIGA PLA2G6 PSAP PTEN SGMS2 SLC2A2 SLC2A4 SRGN TMTC3	119180 1312 160418 1605 1636 166929 175 2220 23545 246 249 2585 2588 2720 2752 3425 3707 4153 4534 4706 4952 523 5277 5552 5660 5728 57511 6514 6517 811 8398 8897 929	Homo sapiens (human)
DOID:1929	supravalvular aortic stenosis Aliases: Supra-valvular aortic stenosis	ARSD CACNA2D1	414 781	Homo sapiens (human)
DOID:3069	malignant astrocytoma Aliases: Astrocytic tumor astrocytoma of Cerebrum astrocytoma of brain astroglioma cerebral astrocytoma	akt1.S	399170	Xenopus laevis (African clawed frog)
DOID:12716	newborn respiratory distress syndrome Aliases: HMD - Hyaline membrane disease Neonatal respiratory Distress syndrome hyaline membrane disease pulmonary hyaline membrane disease pulmonary hypoperfusion syndrome of newborn respiratory distress syndrome of newborn	ndst1	496577	Xenopus tropicalis (tropical clawed frog)
DOID:219	colon cancer	Axn Calr Hs3st-B sgg	31248 32918 41166 43565	Drosophila melanogaster (fruit fly)
DOID:0050802	Ehlers-Danlos syndrome spondylodysplastic type 2 Aliases: EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2 Ehlers-Danlos syndrome progeroid type	b3galt6	572324	Danio rerio (zebrafish)
DOID:10290	prostate lymphoma Aliases: lymphoma of prostate	OPCML	4978	Homo sapiens (human)
DOID:0112318	Schindler disease type 1 Aliases: NAGA deficiency type 1 alpha-N-acetylgalactosaminidase deficiency type 1	NAGA	4668	Homo sapiens (human)
DOID:0050650	familial atrial fibrillation Aliases: ATFB	Kcnq1	16535	Mus musculus (house mouse)
DOID:0070436	hyperphosphatasia with impaired intellectual development syndrome 4 Aliases: GPIBD62 HPMRS6 glycosylphosphatidylinositol biosynthesis defect 62 hyperphosphatasia with mental retardation syndrome 6	PGAP3	93210	Homo sapiens (human)
DOID:0080762	autosomal recessive limb-girdle muscular dystrophy type 2Z Aliases: limb-girdle muscular dystrophy 21	CG31139 rumi	326122 42698	Drosophila melanogaster (fruit fly)
DOID:6740	cervix small cell carcinoma Aliases: small cell carcinoma of the Cervix Uteri	CHGA	1113	Homo sapiens (human)
DOID:0060362	punctate palmoplantar keratoderma type III Aliases: acrokeratoelastoidosis of Costa punctate palmoplantar hyperkeratosis type 3 punctate palmoplantar keratoderma type 3	MGAM SI	6476 8972	Homo sapiens (human)
DOID:3748	esophagus squamous cell carcinoma Aliases: SCC of esophagus SCC of oesophagus oesophagus squamous cell carcinoma	Akt1 Idh2 Kat2b Mbd4 Trp53	11651 17193 18519 22059 269951	Mus musculus (house mouse)
DOID:2752	glycogen storage disease II Aliases: Generalized glycogenosis Glycogen storage disease 2 Glycogen storage disease, type II Glycogenosis, type 2 Lysosomal alpha-1,4-glucosidase deficiency Pompe's disease acid maltase deficiency deficiency of glucoamylase deficiency of maltase glycogen storage disease type II	ACE AGL AKR1A1 APRT ARSB ATP6AP2 CALR CPT2 ELOVL4 FCGR3B FUT1 G6PC1 GAA GALC GBE1 GLA GYG1 HPGDS IDS IDUA IGF2R LIPC MAN2B1 MGAM PARP1 PNPLA2 RPE SI SLC17A5 STBD1 UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A5 UGT1A6 UGT1A7 UGT1A8 UGT1A9	10159 10327 1376 142 1636 178 2215 2523 2538 2548 2581 2632 26503 2717 27306 2992 3423 3425 3482 353 3990 411 4125 54575 54576 54577 54578 54579 54600 54657 54658 54659 57104 6120 6476 6785 811 8972 8987	Homo sapiens (human)

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