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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 **7251 - 7275** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism
DOID:13378	Kawasaki disease Aliases: Kawasaki's disease MLNS acute febrile MCLS acute febrile mucocutaneous lymph node syndrome mucocutaneous lymph node syndrome	Hmgb1 Tlr4 Tnf	24835 25459 29260	Rattus norvegicus (Norway rat)
DOID:13832	patent ductus arteriosus Aliases: Patent ductus Botalli	Tfap2b	21419	Mus musculus (house mouse)
DOID:0110292	autosomal recessive limb-girdle muscular dystrophy type 2O Aliases: LGMD2O MDDGC3 muscular dystrophy-dystroglycanopathy (limb-girdle) type C3 muscular dystrophy-dystroglycanopathy limb-girdle POMGNT1-related	pomgnt1.L pomgnt1.S	414570 495292	Xenopus laevis (African clawed frog)
DOID:0050949	autosomal recessive hypophosphatemic rickets	ENPP1 GALNT3 IDUA	2591 3425 5167	Homo sapiens (human)
DOID:1319	brain cancer Aliases: BT - Brain tumour adult brain tumor adult malignant brain neoplasm brain neoplasm brain neoplasm, adult malignant brain tumour malignant primary brain neoplasm malignant primary brain tumor malignant tumor of Brain malignant tumor of adult brain neoplasm of brain primary brain neoplasm primary brain tumor primary malignant neoplasm of brain tumor of the Brain	ABO ACHE ACSM3 ADH1A AKR1A1 ALDH1A3 ALOX5 ARSA ASAH1 B3GALNT1 BST2 CA4 CACNA2D2 CAT CD248 CD38 CD44 CD48 CD74 CHPT1 CSPG4 CYP17A1 CYP19A1 CYP1A1 CYP1B1 CYP2C9 CYP2E1 DAG1 DCN DHCR24 ENO2 ENPP1 EXTL3 FASN FDPS FUT4 G6PD GFPT1 GFRA1 GLB1 GLUL GNS GPNMB HK1 HK2 HMMR HPGDS HPSE ICAM1 IDH1 IDH2 IDUA IGF2R IL1RAPL1 L1CAM L2HGDH LDHA LGALS3 MGAT5B MMP25 MRC1 NCAM1 NDUFAB1 NT5E OPCML PARP1 PCYT1A PGK1 PIK3CA PIK3CB PIK3CD PIK3CG PKM PLAUR POMT1 PRG3 PSMD10 PTEN PTGDS PTGS2 RTN4R SELL SLC2A3 SLC37A4 SMUG1 SOAT1 SPTLC1 ST3GAL3 ST6GAL1 STS SULF1 SULF2 SULT1E1 TM7SF2 TNKS UGT8 VCAN	10327 10394 10457 10558 10585 10855 11141 124 142 1462 1464 146664 1543 1545 1559 1571 1586 1588 1605 1634 1718 2026 2137 2194 220 2224 23213 23583 240 2526 2539 2542 2673 2674 2720 27306 2752 2799 28 3098 3099 3161 3383 3417 3418 3425 3482 3897 3939 3958 410 412 427 43 4360 4684 4706 4907 4978 5130 5167 5230 5290 5291 5293 5294 5315 5329 55959 56994 57124 5716 5728 5730 5743 6296 6402 64386 6480 6487 65078 6515 6646 6783 684 7108 7368 762 79944 847 8658 8706 9254 952 960 962 972	Homo sapiens (human)
DOID:0050156	idiopathic pulmonary fibrosis Aliases: FIBROCYSTIC PULMONARY DYSPLASIA IDIOPATHIC PULMONARY FIBROSIS, FAMILIAL cryptogenic fibrosing alveolitis	Akt1 Il1rl1 Parp1	24185 25556 25591	Rattus norvegicus (Norway rat)
DOID:0014667	disease of metabolism Aliases: metabolic disease	Ins1 Ins2 Ldha Pdha2 Pfkl Pfkm Pfkp Pklr Pkm	117098 24505 24506 24533 24651 25630 25741 60416 65152	Rattus norvegicus (Norway rat)
DOID:10754	otitis media	Enpp1 Nisch Tlr2 Tlr4 Tnf	18605 21898 21926 24088 64652	Mus musculus (house mouse)
DOID:0060608	microcephalic osteodysplastic primordial dwarfism type I Aliases: Taybi-Linder syndrome brachymelic primordial dwarfism cephaloskeletal dysplasia low-birth-weight dwarfism with skeletal dysplasia osteodysplastic primordial dwarfism type I	ACADS AMT ARSA ARSD B4GALT7 BAAT CAT CHPT1 CYP11A1 DAG1 DCN DHDDS FOLR1 GALNT14 GAPDH GCSH GLB1 GLDC GPI HSPG2 KL OGG1 PARP1 PGAM2 PIK3CA PIK3CB PIK3CD PIK3CG PRNP PTEN SGPL1 SMC3 STS TNKS XYLT2	11285 142 1583 1605 1634 2348 2597 2653 2720 2731 275 2821 3339 35 410 412 414 4968 5224 5290 5291 5293 5294 5621 56994 570 5728 64132 79623 79947 847 8658 8879 9126 9365	Homo sapiens (human)
DOID:0112222	developmental and epileptic encephalopathy 88 Aliases: DEE88 early infantile epileptic encephalopathy 88	MDH1	4190	Homo sapiens (human)
DOID:14498	lipoid proteinosis Aliases: Lipid proteinosis URBACH-WIETHE DISEASE	SFTPC	6440	Homo sapiens (human)
DOID:4624	Ollier disease Aliases: DYSCHONDROPLASIA ENCHONDROMATOSIS, MULTIPLE Enchondromatosis with haemangiomata Kast's syndrome OSTEOCHONDROMATOSIS	CHST3 EXT1 EXT2 HSPG2 IDH1 IDH2	2131 2132 3339 3417 3418 9469	Homo sapiens (human)
DOID:0110635	muscular dystrophy-dystroglycanopathy type B5 Aliases: FKRP-related congenital muscular dystrophy MDC1C MDDGB5 congenital muscular dystrophy 1C muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), type B, 5 muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5	Fkrp	308390	Rattus norvegicus (Norway rat)
DOID:3911	progeria Aliases: HGPS Hutchinson Gilford syndrome Hutchinson-Gilford Progeria syndrome Hutchinson-Gilford disease	ACAN ACE ALPL APRT CAT CD55 CYP27A1 DCN ENOSF1 EXT1 FDPS G6PD GCK GGT1 GLO1 GUSB ICAM1 KL NEIL1 OGG1 PARP1 PLA2R1 PLB1 PRKAA2 PRPS1 SIRT2 SIRT6 SLC35G1	142 151056 1593 159371 1604 1634 1636 176 2131 2224 22925 22933 249 2539 2645 2678 2739 2990 3383 353 4968 51548 55556 5563 5631 79661 847 9365	Homo sapiens (human)
DOID:0111389	mucopolysaccharidosis Ih/s Aliases: MPS1H/S MPSIH/S Mucopolysaccharidosis type 1H/S	Idua	34544	Drosophila melanogaster (fruit fly)
DOID:0080349	developmental and epileptic encephalopathy 39 Aliases: AGC1 deficiency early infantile epileptic encephalopathy 39 epileptic encephalopathy with global cerebral demyelination	aralar1	43616	Drosophila melanogaster (fruit fly)
DOID:0050866	oral squamous cell carcinoma Aliases: mouth squamous cell carcinoma	gapdh	317743	Danio rerio (zebrafish)
DOID:9923	developmental coordination disorder	ACADSB ACAT1 AGK AGRN ALDH5A1 ALG14 ALG2 ARSD ASAH1 ATP6AP2 ATP6V0A2 ATP6V1A B3GALNT2 CAT CHAT CHKB CHST14 CHST3 COG4 COG5 CRPPA CYP27B1 CYP2R1 CYP2U1 DAG1 DGKK DPAGT1 EXT2 EXTL3 FKRP FKTN GBA1 GFPT1 GMPPB HACD1 HADH HADHA HADHB HGSNAT HIBCH HPRT1 INPP5K LARGE1 LMAN2L MAN1B1 MBOAT7 MTMR14 MTMR2 NDST1 OGG1 PGAP1 PIGC PNP PNPLA2 POMGNT1 POMK POMT1 POMT2 PRPS1 PTEN SDHA SDHB SDHD SRD5A3 ST3GAL3 TECR TUSC3	10159 10466 10585 1103 1120 11253 113189 113612 120227 138050 139189 148789 1594 1605 1798 199857 2132 2137 2218 23545 25839 26275 2629 2673 29925 29954 3030 3032 3033 3251 3340 36 375790 38 414 427 4860 4968 51763 523 5279 55624 55750 5631 57104 5728 6389 6390 6392 64419 6487 729920 79143 79147 7915 79644 7991 80055 81562 84197 847 85365 8898 9200 9215 9469 9524	Homo sapiens (human)
DOID:0080520	Tn polyagglutination syndrome Aliases: galactosyltransferase deficiency	C1galt1c1	302499	Rattus norvegicus (Norway rat)
DOID:3827	congenital diaphragmatic hernia Aliases: Diaphragmatic Hernia	sfl	38736	Drosophila melanogaster (fruit fly)
DOID:3449	penis carcinoma Aliases: Penile carcinoma carcinoma of penis	MRC1 PIK3CA PIK3CB PIK3CD PIK3CG SMUG1	23583 4360 5290 5291 5293 5294	Homo sapiens (human)
DOID:0110535	autosomal recessive nonsyndromic deafness 9 Aliases: DFNB9 NRSD9 autosomal recessive deafness 9 neurosensory nonsyndromic recessive deafness 9	ACO2 ACOX1 ARSA CD109 CHSY1 COG4 LRTOMT OTOA OTOG PSAP TECTA	135228 146183 220074 22856 25839 340990 410 50 51 5660 7007	Homo sapiens (human)
DOID:1070	primary open angle glaucoma Aliases: chronic simple glaucoma	Adipoq Ogg1 Tlr4 Tnf Trp53	11450 18294 21898 21926 22059	Mus musculus (house mouse)
DOID:2089	obsolete constipation	ACE ACHE ADH1C AKR1A1 ALDOB ALPP ATRNL1 B3GAT1 CHAT CHST14 COG2 COMT CTNS DDOST EXT2 GAD1 GBA1 HPSE2 MANBA MDH2 MGAM MLYCD OCRL PAFAH1B1 PCCA PCCB PIK3CA PRNP PTEN SDC1 SDHA SDHB SDHC SLC35A2 UGT1A9	10327 1103 113189 126 1312 1497 1636 1650 2132 22796 229 23417 250 2571 26033 2629 27087 4126 4191 43 4952 5048 5095 5096 5290 54600 5621 5728 60495 6382 6389 6390 6391 7355 8972	Homo sapiens (human)
DOID:0111110	maturity-onset diabetes of the young type 13 Aliases: MODY type 13 MODY13	Kcnj11	83535	Rattus norvegicus (Norway rat)

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