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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 **6801 - 6825** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism
DOID:0110669	congenital myasthenic syndrome 14 Aliases: CMS14 CMSTA3 congenital myasthenic syndrome 14, with tubular aggregates congenital myasthenic syndrome with tubular aggregates 3	Alg2	56737	Mus musculus (house mouse)
DOID:13406	pulmonary sarcoidosis Aliases: lung Sarcoidosis	ABO ACE CD14 CEL CHI3L1 IL18R1 NCAM1 PARP9 PIK3CA PIK3CB PIK3CD PIK3CG PTGS2 SFTPA1 SLC27A5 SMUG1 TLR2 TNF	1056 10998 1116 1636 23583 28 4684 5290 5291 5293 5294 5743 653509 7097 7124 83666 8809 929	Homo sapiens (human)
DOID:0110061	amelogenesis imperfecta hypomaturation type 2A3 Aliases: AI2A3 amelogenesis imperfecta hypomaturation type IIA3 amelogenesis imperfecta type IIA3	AKR1C1 AKR1C2 MMP25 TMEM165	1645 1646 55858 64386	Homo sapiens (human)
DOID:11717	neonatal diabetes Aliases: diabetes mellitus syndrome in newborn infant neonatal diabetes mellitus	Ins2	24506	Rattus norvegicus (Norway rat)
DOID:0112147	retinitis pigmentosa 90 Aliases: RP90	IDH2	854303	Saccharomyces cerevisiae S288C
DOID:7757	childhood leukemia	ABO ACE ACHE AKR1C3 AKR1C4 ALOX5 ALPI ALPP ANXA7 APRT ARSH B3GAT1 B4GALT1 BPHL BST2 CALR CD14 CD1D CD22 CD33 CD38 CD44 CD48 CH25H CHI3L1 CLEC12A CNTN2 CSPG4 CYP1A1 CYP1B1 CYP2B6 CYP2E1 CYP3A5 DAG1 DGKA DLD EBP ENO2 ENOSF1 EXT1 FCER2 FCGR3B FMOD FUT1 FUT3 FUT4 G6PD GLB1 GPI GPX3 HK1 HK2 HMMR HPGDS HPRT1 HSD11B2 ICAM1 IDH1 IDH2 IL18R1 IL1R1 IL1RL1 INPP4B INPP5D KLRK1 LDHA LGALS1 LGALS3 LYZ MACROD1 MICA MRC1 MSLN NAMPT NCAM1 NT5E PAFAH1B1 PARG PARP1 PARP4 PGD PGP PI4K2B PIK3CA PIK3CB PIK3CD PIK3CG PIP4K2A PKM PLA2R1 POGLUT1 PRKAA2 PTEN PTGS1 PTGS2 RPN1 RTN4R SELE SELL SHMT1 SIGLEC10 SIGLEC1 SIRT6 SLC39A8 SMPD2 SOAT1 ST8SIA4 TALDO1 TIGAR TNFRSF10C UGCG ULBP2 UMOD UNG VCAM1 VTCN1	100507436 10135 10232 10682 1109 1116 142 143 1464 1543 1545 1555 1571 1577 160364 1605 1606 1636 1738 2026 2131 2208 2215 22914 22925 2331 240 248 250 2523 2525 2526 2539 2683 27087 2720 27306 28 2821 283871 2878 28992 3098 3099 310 3161 3251 3291 3383 3417 3418 347527 353 3554 3635 3939 3956 3958 4069 43 4360 4684 4907 5048 51548 5226 5290 5291 5293 5294 5305 5315 55300 55556 5563 56983 57103 5728 5742 5743 6184 6401 6402 64116 6470 65078 6610 6614 6646 670 684 6888 6900 7357 7369 7374 7412 7903 79679 80328 811 8505 8644 8794 8809 8821 89790 9023 912 9173 929 933 945 952 960 962	Homo sapiens (human)
DOID:870	neuropathy Aliases: peripheral neuropathy	ACACA ACE ACER3 ACOT7 AGPAT2 AGXT AKR1A1 AKR1B1 ALOX12 ALOX15 AMACR APRT ARSA B3GAT1 CANX CAT CD14 CD1D CD55 CHIT1 CHSY1 CNTN1 COMT CPT1C CYP17A1 CYP19A1 CYP27A1 CYP2C8 CYP2U1 CYP3A4 CYP3A5 CYP7B1 DAG1 DEGS1 DGAT2 ECHS1 ENO2 FIG4 FOLR1 FUCA1 GAD1 GAS1 GCK GFRA1 GFRA2 GLA GPX1 HADH HADHA HADHB HK1 HPGDS HPSE HSD3B7 ICAM1 IDH1 IDH2 INPP5K LPIN1 LTC4S LYZ MAG MBL2 MGLL MTM1 MTMR2 NAGA NAMPT NCAM1 NCAN NGLY1 NT5E NTNG1 PDHA1 PGM3 PGP PIK3CA PIK3CB PIK3CD PIK3CG PMM2 PNP PNPLA2 PNPLA6 PRNP PRPS1 PSAP PTEN PTGIS RGN RPIA SARM1 SCP2 SDHA SGPL1 SLC2A4 SMC3 SMPD1 SPTLC1 SPTLC2 SPTLC3 ST3GAL4 SUCLA2 TKT TPI1 TYMP	10135 10327 10555 10558 10855 10908 1118 11332 11343 113612 126129 1272 1312 1463 1558 1576 1577 1586 1588 1593 1604 1605 1636 189 1890 1892 2026 22854 22856 22934 23098 231 23175 2348 23600 239 246 2517 2571 2619 2645 2674 2675 27087 2717 27306 283871 2876 3030 3032 3033 3098 31 3383 3417 3418 353 4056 4069 4099 410 4153 4534 4668 4684 4860 4907 5160 51763 5238 5290 5291 5293 5294 5373 55304 55331 55768 5621 5631 5660 57104 5728 5740 6342 6389 6484 6517 6609 7086 7167 80270 821 84649 847 8560 8803 8879 8898 9104 912 9126 929 9420 9517 9896	Homo sapiens (human)
DOID:2030	anxiety disorder Aliases: anxiety anxiety state	Manea	140808	Rattus norvegicus (Norway rat)
DOID:8466	retinal degeneration Aliases: degeneration of retina	cs	322339	Danio rerio (zebrafish)
DOID:11664	nephrosclerosis Aliases: renal sclerosis	Adrb1	11554	Mus musculus (house mouse)
DOID:8553	pyoderma gangrenosum	SOAT1	6646	Homo sapiens (human)
DOID:0110645	long QT syndrome 2 Aliases: LQT2	ALG10 ALG10B SCD	144245 6319 84920	Homo sapiens (human)
DOID:10932	obsessive-compulsive personality disorder Aliases: OCPD	ACAN COMT	1312 176	Homo sapiens (human)
DOID:0110557	autosomal dominant nonsyndromic deafness 28 Aliases: DFNA28 autosomal dominant deafness 28	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:3525	middle cerebral artery infarction	ACACA ACE AGXT ALDH2 ALOX5 BAD BCAN CAT CD14 CHAT CHI3L1 CYP19A1 CYP2C8 CYP2E1 CYP2J2 ENO1 EPHX2 G6PD GAD1 GAD2 GAPDH GHRL GLUL GSK3B HAS2 HJV HK2 HPRT1 ICAM1 KL LDHA LGALS3 LPIN1 LYPD5 MAG MGLL NAMPT NCAM1 OGG1 PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G4A PLD1 PRKAA2 PTEN PTGS2 RGMA RGMB SFTPD SIRT2 SLC2A1 SLC2A3 SLC5A1 SMUG1 SPHK2 STS TM7SF2 TNF UMOD UPP1	10135 1103 1116 11343 142 148738 1558 1571 1573 1588 1636 189 2023 2053 217 22933 23175 23583 240 2539 2571 2572 2597 2752 284348 285704 2932 3037 3099 31 3251 3383 3939 3958 4099 412 4684 4968 51738 5290 5291 5293 5294 5321 5337 5563 56848 56963 572 5728 5743 63827 6441 6513 6515 6523 7108 7124 7369 7378 847 929 9365	Homo sapiens (human)
DOID:0050565	autosomal recessive nonsyndromic deafness	tmtc4	100158586	Xenopus tropicalis (tropical clawed frog)
DOID:1324	lung cancer	Braf Comt Hs3st2 Idh2 Mbd4 Myc Pik3ca	109880 12846 17193 17869 18706 195646 269951	Mus musculus (house mouse)
DOID:0050642	hypochromic microcytic anemia	Tnf	21926	Mus musculus (house mouse)
DOID:10548	cardia cancer Aliases: Ca cardia - stomach malignant neoplasm of cardia of stomach	CD44 SPHK1 UGT2B7	7364 8877 960	Homo sapiens (human)
DOID:3319	lymphangioleiomyomatosis Aliases: lung lymphangioleiomyomatosis lymphangiomyomatosis pulmonary lymphangioleiomyomatosis	Cpt1a Gapdh	12894 14433	Mus musculus (house mouse)
DOID:0060575	3MC syndrome 1	COLEC11 MASP1	5648 78989	Homo sapiens (human)
DOID:14692	Smith-Lemli-Opitz syndrome Aliases: Rutledge lethal multiple congenital anomaly syndrome Smith-Opitz-Inborn syndrome	ACADSB DHCR7 FDFT1 SC5D STS	1717 2222 36 412 6309	Homo sapiens (human)
DOID:2043	hepatitis B Aliases: chronic hepatitis B hepatitis B infection	Ugt301D1 Ugt302K1 Ugt303A1 Ugt304A1 Ugt316A1 Ugt35A1 Ugt35C1 Ugt35E1 Ugt35E2 Ugt36D1 Ugt36E1 Ugt36F1 Ugt37A1 Ugt37A3 Ugt37C1 Ugt37D1 Ugt37E1 Ugt49B2	35105 35137 35138 35139 35307 40079 41334 41574 42538 53501 53502 53503 53504 53506 53507 53511 53512 53583	Drosophila melanogaster (fruit fly)
DOID:5264	epithelioid leiomyosarcoma	ACSL4 DHCR24 DPEP1 FASN FCGR3B FH GGT1 HMMR IL1R1 MRC1 PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PNPLA2 PTEN PTGS2 SLC33A1 SMUG1 VCAN	142 1462 1718 1800 2182 2194 2215 2271 23583 2678 3161 3554 4360 5290 5291 5293 5294 57104 5728 5743 9197	Homo sapiens (human)
DOID:0110299	autosomal recessive limb-girdle muscular dystrophy type 2I Aliases: LGMD2I Limb-girdle muscular dystrophy due to FKRP deficiency MDDGC5 muscular dystrophy limb-girdle type 2I muscular dystrophy-dystroglycanopathy (limb-girdle) type C 5 muscular dystrophy-dystroglycanopathy limb-girdle FRKP-related	Fkrp	243853	Mus musculus (house mouse)

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