GlyCosmos Portal

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

Displaying entries **1251 - 1275** of **7942** in total

« First

‹ Prev

…

47

48

49

50

51

52

53

54

55

…

Next ›

Last »
Disease ID	Disease Name	Gene Symbol	Gene ID	Organism
DOID:10582	Refsum disease Aliases: HMSN type IV HSMN IV Heredopathia atactica polyneuritiformis Refsum's disease adult Refsum disease classic Refsum disease phytanic acid oxidase deficiency	CAT GPD1 HSD17B4 SCP2	2819 3295 6342 847	Homo sapiens (human)
DOID:0060284	paroxysmal nocturnal hemoglobinuria	piga.L	108707921	Xenopus laevis (African clawed frog)
DOID:3672	rhabdoid cancer Aliases: Rhabdoid sarcoma malignant rhabdoid tumour	GPC3 PIK3CA PIK3CB PIK3CD PIK3CG PTGS2 SMUG1	23583 2719 5290 5291 5293 5294 5743	Homo sapiens (human)
DOID:1206	Rett syndrome Aliases: Rett's disorder cerebroatrophic hyperammonemia	ADIPOQ ALDH5A1 ALOX15 AMACR ARSD CAT CHAT ENO2 EPM2A FBP1 FBP2 FOLR1 FOLR2 HAGH HPRT1 L1CAM NTNG1 PAFAH1B1 SIRT2 ST3GAL5	1103 2026 2203 22854 22933 2348 2350 23600 246 3029 3251 3897 414 5048 7915 7957 847 8789 8869 9370	Homo sapiens (human)
DOID:0080501	GM1 gangliosidosis type 2 Aliases: juvenile GM1 gangliosidosis	GLB1	2720	Homo sapiens (human)
DOID:1475	lymphangioma Aliases: Congenital lymphangioma benign lymphangioma	C1GALT1C1 CALR CD14 CTSA DPM1 GAS1 GPC6 HSD17B2 IDH1 IDH2 IGF2R IL18R1 MAG PIGF PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PNPLA2 PNPLA6 PTEN SDHD	10082 10908 2619 29071 3294 3417 3418 3482 4099 5281 5290 5291 5293 5294 5310 5476 57104 5728 6392 811 8809 8813 929	Homo sapiens (human)
DOID:5419	schizophrenia Aliases: schizophrenia-1	b3gat2 chst3a chst3b	445060 556800 559721	Danio rerio (zebrafish)
DOID:8947	diabetic retinopathy Aliases: Retinal abnormality - diabetes-related	W03G11.3 gpd-1 gpd-3 gpd-4	174578 174603 180601 189173	Caenorhabditis elegans
DOID:0070135	autosomal recessive cutis laxa type IA Aliases: ARCL1A	ATP6AP1 ATP6V0A2 ATP6V1A B3GALT6 B3GAT3 B4GALT7 CAT CHST3 DCN DHCR7 ECHS1 ENOSF1 MAN1B1 PARP1 PIGL PLCG2 PMM2 PTDSS1 SLC2A10 SRD5A3	11253 11285 126792 142 1634 1717 1892 23545 26229 523 5336 537 5373 55556 79644 81031 847 9469 9487 9791	Homo sapiens (human)
DOID:5199	ureteral obstruction	parp-1	266823	Caenorhabditis elegans
DOID:4074	pancreatic adenocarcinoma Aliases: pancreas adenocarcinoma	ACSS2 AGPAT2 AKR1A1 AKR1B10 ALOX5 ALPI ALPP ARSA CAT CD109 CD44 CEACAM5 CEACAM6 CEACAM7 CYP1A1 CYP1A2 DCTD DPEP1 GAPDH GPC1 HMMR HPGDS HPSE ICAM1 IL1RAP IL1RL1 KL L1CAM LGALS3 LGALS4 MRC1 MSLN MTAP NTHL1 PDHX PIK3CA PIK3CB PIK3CD PIK3CG PLA2G15 PLPP5 PNP PTEN PTGS2 SDC1 SDC2 SDHB SELL SFTPD SMUG1 ST3GAL3 ST3GAL4 STS THEM4 TM7SF2 UGT1A7	10232 10327 1048 10555 10855 1087 117145 135228 1543 1544 1635 1800 23583 23659 240 248 250 2597 27306 2817 3161 3383 3556 3897 3958 3960 410 412 4360 4507 4680 4860 4913 5290 5291 5293 5294 54577 55902 57016 5728 5743 6382 6383 6390 6402 6441 6484 6487 7108 8050 84513 847 9173 9365 960	Homo sapiens (human)
DOID:9352	type 2 diabetes mellitus Aliases: NIDDM insulin resistance non-insulin-dependent diabetes mellitus type 2 diabetes type II diabetes mellitus	Akr1b1 Akt1 Akt2 Apod Bad Cd38 Chi3l1 Cpt1a Crtc2 Enpp1 Fuca1 G6pc1 G6pd Gck Gckr Gpd2 Gsk3b Hk2 Iapp Igf2 Inppl1 Ins1 Ins2 Kcnj11 Kcnq1 Kl Lep Lepr Nampt Nr1d1 Oga Ogg1 Ogt Parp1 Pck1 Pdx1 Pik3r1 Pklr Ppargc1a Ppp1ca Ppp1cc Ppp1r3c Prkaa1 Rbp4 Tlr4 Tnf Ucp2 Ugt1a1 Ugt1a6 Ugt1a7c	113992 154516 154968 24185 24192 24375 24377 24385 24476 24483 24505 24506 24536 24651 24668 24669 24835 24861 25059 25062 25233 25239 252917 25513 25591 25608 25634 25658 25668 25703 25757 26295 29260 29535 297508 309513 310615 362282 54315 64639 65038 65248 81528 83504 83516 83535 84020 84027 85496 89824	Rattus norvegicus (Norway rat)
DOID:0110637	muscular dystrophy-dystroglycanopathy type B6 Aliases: MDC1D MDDGB6 congenital muscular dystrophy LARGE-related congenital muscular dystrophy type 1D muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 6 muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6	lge-1	187206	Caenorhabditis elegans
DOID:0080575	Larsen-like syndrome B3GAT3 type Aliases: Larsen-like syndrome, B3GAT3 type multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome	b3gat3	594895	Xenopus tropicalis (tropical clawed frog)
DOID:8761	acute megakaryocytic leukemia Aliases: Megakaryocytic myelosis Thrombocytic leukaemia	A4GALT CD38 G6PD GAPDH NCAM1 PTEN	2539 2597 4684 53947 5728 952	Homo sapiens (human)
DOID:12930	dilated cardiomyopathy Aliases: primary dilated cardiomyopathy	Adrb1 Cs Fkrp Lepr Ppargc1a Rbp4 Tnf Tp53	170587 24536 24835 24842 24925 25703 308390 83516	Rattus norvegicus (Norway rat)
DOID:0050730	coenzyme Q10 deficiency disease Aliases: COENZYME Q10 DEFICIENCY, PRIMARY	COQ2	27235	Homo sapiens (human)
DOID:0080207	CAKUT2 Aliases: Congenital anomalies of the kidney and urinary tract 2	PIGL	9487	Homo sapiens (human)
DOID:0060221	Maffucci syndrome	EXT1 EXT2 IDH1 IDH2	2131 2132 3417 3418	Homo sapiens (human)
DOID:0060762	restrictive dermopathy Aliases: Infantile restrictive dermopathy Lethal tight skin contracture syndrome hyperkeratosis-contracture syndrome lethal restrictive dermopathy tight skin contracture syndrome	ATP6AP1 ATP6V0A2 B3GALT6 B3GAT3 B4GALT7 CAT CHST3 DCN DHCR7 ECHS1 ENOSF1 MAN1B1 PARP1 PIGL PLCG2 PMM2 PTDSS1 SLC2A10 SRD5A3	11253 11285 126792 142 1634 1717 1892 23545 26229 5336 537 5373 55556 79644 81031 847 9469 9487 9791	Homo sapiens (human)
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)
DOID:0050777	Joubert syndrome Aliases: JBTS	INPP5E	39404	Drosophila melanogaster (fruit fly)
DOID:0080531	dedifferentiated liposarcoma	CALR ENPP2 FASN KL PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PSMD10 PTEN SDC1 STS	142 2194 412 5168 5290 5291 5293 5294 5716 5728 6382 811 9365	Homo sapiens (human)
DOID:14443	cholinergic urticaria	CEACAM5 CLEC10A MGLL	10462 1048 11343	Homo sapiens (human)
DOID:8719	in situ carcinoma	Lerp	43223	Drosophila melanogaster (fruit fly)

Table Filtering

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

All Resources

Other Information

Tools

Search Tools

International Collaboration

Acknowledgements