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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 **7876 - 7900** of **7942** in total

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Disease ID	Disease Name ▲	Gene Symbol	Gene ID	Organism
DOID:0050545	visceral heterotaxy Aliases: heterotaxia situs ambiguus	CERS1 CFC1 PHKA2	10715 5256 55997	Homo sapiens (human)
DOID:0050545	visceral heterotaxy Aliases: heterotaxia situs ambiguus	Phka2	110094	Mus musculus (house mouse)
DOID:0050545	visceral heterotaxy Aliases: heterotaxia situs ambiguus	C14B9.8	176149	Caenorhabditis elegans
DOID:0050545	visceral heterotaxy Aliases: heterotaxia situs ambiguus	CG7766	31839	Drosophila melanogaster (fruit fly)
DOID:9146	visceral leishmaniasis Aliases: Infection by visceral leishmaniasis Kala-Azar	Tnf	24835	Rattus norvegicus (Norway rat)
DOID:9146	visceral leishmaniasis Aliases: Infection by visceral leishmaniasis Kala-Azar	ACSS2 APRT CD14 CD44 CYP51A1 DPAGT1 FCN2 FH G6PD GAPDH GCK H6PD INPP5D LGALS1 LGALS3 LPL MBL2 MPG MRC1 NCAM1 PIGZ PIK3CA PIK3CB PIK3CD PRKAA2 SELL SLC17A5 SMPD2 SMUG1 SOAT1 TNF UNG	1595 1798 2220 2271 23583 2539 2597 2645 26503 353 3635 3956 3958 4023 4153 4350 4360 4684 5290 5291 5293 5563 55902 6402 6610 6646 7124 7374 80235 929 9563 960	Homo sapiens (human)
DOID:9146	visceral leishmaniasis Aliases: Infection by visceral leishmaniasis Kala-Azar	Tnf	21926	Mus musculus (house mouse)
DOID:5691	visual cortex disease Aliases: visual cortex dysfunction	FDFT1 PIGP	2222 51227	Homo sapiens (human)
DOID:11832	visual epilepsy Aliases: epilepsy, visual	Eno L2HGDH	33351 35156	Drosophila melanogaster (fruit fly)
DOID:11832	visual epilepsy Aliases: epilepsy, visual	ENO1 ENO2 ERR1 ERR2 ERR3 KAR2	853169 853418 854575 855373 855848 856579	Saccharomyces cerevisiae S288C
DOID:11832	visual epilepsy Aliases: epilepsy, visual	Bad Eno2 Kcnj11 Tnf	24334 24835 64639 83535	Rattus norvegicus (Norway rat)
DOID:11832	visual epilepsy Aliases: epilepsy, visual	Bad Eno2 Il6st Kcnj11 Npy1r Tnf	12015 13807 16195 16514 18166 21926	Mus musculus (house mouse)
DOID:11832	visual epilepsy Aliases: epilepsy, visual	enol-1	174423	Caenorhabditis elegans
DOID:11832	visual epilepsy Aliases: epilepsy, visual	ABAT ABO ACACA ACADM ACADS ACADSB ACAT1 ACE ACHE ACO2 ACOT7 ACOX1 ACSL4 ACSM3 ADPRS AGA AGPS AGRN ALDH3A2 ALDH5A1 ALDH7A1 ALDOB ALG11 ALG13 ALG1 ALG2 ALG3 ALG6 ALG9 ALPL AMACR AMT APEX1 ARSA ARSD ATP6AP2 ATP6V0A2 ATP6V1A B3GALNT2 B3GLCT BAD BCKDHA BCKDHB CAT CD38 CD44 CERS1 CHAT CLEC7A CLN5 CNTN2 CNTN4 COG2 COG5 COG6 COG8 COLGALT1 COMT CPT1A CPT2 CRPPA CTSA CYB5R3 CYP11A1 CYP1A1 CYP1A2 CYP27A1 CYP2C19 CYP2E1 CYP3A4 CYP4F3 DAG1 DBT DDOST DEGS1 DGCR2 DGKD DGKE DHCR24 DHDDS DLD DPAGT1 EBP ECHS1 ELOVL4 ENO2 EOGT EXT1 EXT2 FBP1 FCSK FDFT1 FH FKRP FKTN FUCA1 FUT8 G6PC1 G6PD GAD1 GAD2 GALC GAS1 GCDH GCK GCSH GLA GLB1 GLDC GLO1 GLUL GLYCTK GM2A GMPPA GMPPB GNE GNS GPAA1 GPC1 GPC3 GYS1 GYS2 HADHA HADHB HEXA HEXB HGSNAT HIBCH HMGCL HMGCS2 HPGDS HPRT1 HS6ST1 HSD17B4 ICAM1 IDH1 IDH2 IDS IL1RAPL1 IL6ST IMPA1 INPP5E ISYNA1 KCNJ11 L2HGDH LARGE1 LGALS3 LMAN2L LSS MAN1B1 MANBA MBL2 MBOAT7 MCAT MDH2 ME1 MGAT1 MGAT2 MGLL MICA MLYCD MMUT MOGS MPI MRC1 MTM1 MYORG NAGA NAGLU NDST1 NEU1 NGLY1 NPL NPY1R NRN1L NSDHL NT5E NTNG1 OCRL OGA PAFAH1B1 PC PCCA PCCB PCK1 PCYT1A PDHA1 PDHX PDIA3 PGAP1 PGAP2 PGAP3 PGK1 PGM3 PIGA PIGB PIGC PIGG PIGH PIGL PIGM PIGN PIGO PIGP PIGQ PIGS PIGT PIGU PIGV PIGW PIGY PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PLA2G10 PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLAUR PLCB1 PLCG1 PLD1 PLD2 PMM2 PNPLA6 POMGNT1 POMGNT2 POMK POMT1 POMT2 PPT1 PRNP PRPS1 PSAP PSMD10 PTEN PTGES PTGS1 PTGS2 REG3G RFT1 RGMA RPIA RXYLT1 SACM1L SC5D SDHA SDHC SDHD SEMA7A SGPL1 SGSH SLC17A5 SLC2A3 SLC33A1 SLC35A1 SLC35A2 SLC35A3 SLC39A8 SLC3A1 SMC3 SMUG1 SRD5A3 ST3GAL3 ST3GAL5 STS STT3A STT3B SUCLA2 SUCLG1 SUMF1 SYNJ1 TECR TGDS TMED9 TMTC3 TNF TPI1 TUSC3 UGCG UGGT1 UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A5 UGT1A6 UGT1A7 UGT1A8 UGT1A9 UGT2B7 UGT8	10020 100507436 10159 10195 10329 10466 10559 10585 10682 10715 10724 10908 1103 11141 11253 11332 11343 1203 123904 128869 130120 1312 132158 1374 1376 138050 145173 148789 152330 1543 1544 1557 1571 1576 1583 1593 160418 1605 1629 1636 1650 1718 1727 1738 175 1798 18 1892 197258 201595 2026 2131 2132 2182 2203 2218 2222 224 2271 22796 22854 229 22908 22934 23236 23417 23443 23483 23545 23556 23583 23600 249 2517 2530 2538 2539 2571 2572 2581 2619 26275 2639 2645 26503 2653 2717 2719 2720 27306 2731 27315 27349 2739 275 2752 2760 2799 28 2817 284098 285203 285362 2923 29925 29926 29929 29954 2997 2998 3030 3032 3073 3074 31 3155 3158 3251 328 3295 3340 3383 34 3417 3418 3423 35 3572 36 3612 3703 375790 3767 38 3958 4047 4051 410 412 4126 414 4153 4191 4199 4245 4247 43 4351 4360 440138 4534 4594 4668 4669 4758 4886 4907 4952 50 501 5048 50814 5091 5095 5096 51 5105 51227 5130 51477 5160 51604 523 5230 5238 5277 5279 5283 5290 5291 5293 5294 5310 5319 5320 5321 5329 5335 5337 5338 5373 54575 54576 54577 54578 54579 54600 54657 54658 54659 54732 5476 54872 54936 5538 55624 55650 55768 56052 5621 5631 5660 56623 56886 56963 5716 572 5728 5742 5743 57462 57511 593 594 6296 6309 6389 6391 6392 64116 6448 64581 6487 6515 6519 6785 6900 7124 7167 729920 7355 7357 7364 7368 7841 79143 79147 7915 79644 79709 79796 79868 7991 79944 79947 80055 8050 80896 81562 8398 8399 84197 84342 847 84720 8482 84892 84992 8526 8527 85365 8540 8560 8733 8802 8803 8867 8869 8879 9091 9126 91869 9197 9215 93183 93210 9394 94005 9487 9488 952 9524 9536 960 9993	Homo sapiens (human)
DOID:1393	visual pathway disease	ACO2 AGXT CYP1B1 INPP5E PMM2 PRPS1 PTEN	1545 189 50 5373 5631 56623 5728	Homo sapiens (human)
DOID:0050731	vitamin B12 deficiency Aliases: cobalamin deficiency hypocobalaminemia	fut2.L fut2.S	108696739 108697990	Xenopus laevis (African clawed frog)
DOID:0050731	vitamin B12 deficiency Aliases: cobalamin deficiency hypocobalaminemia	Fut2 Sec1	308586 58924	Rattus norvegicus (Norway rat)
DOID:0050731	vitamin B12 deficiency Aliases: cobalamin deficiency hypocobalaminemia	Calr	41166	Drosophila melanogaster (fruit fly)
DOID:0050731	vitamin B12 deficiency Aliases: cobalamin deficiency hypocobalaminemia	CALR FUT2 GPX3	2524 2878 811	Homo sapiens (human)
DOID:0050731	vitamin B12 deficiency Aliases: cobalamin deficiency hypocobalaminemia	fut1 fut2	100493351 447958	Xenopus tropicalis (tropical clawed frog)
DOID:0050731	vitamin B12 deficiency Aliases: cobalamin deficiency hypocobalaminemia	Fut2 Sec1	14344 56546	Mus musculus (house mouse)
DOID:0080886	vitamin D-dependent rickets type 1A	CYP27B1	1594	Homo sapiens (human)
DOID:0080887	vitamin D-dependent rickets type 1B	CYP2R1	120227	Homo sapiens (human)
DOID:11249	vitamin K deficiency bleeding Aliases: deficiency of vitamin K vitamin K deficiency vitamin K deficiency hemorrhagic disease	CYP2C9 GLA LMAN1 MCFD2 PC	1559 2717 3998 5091 90411	Homo sapiens (human)
DOID:0050661	vitelliform macular dystrophy Aliases: Best disease Best macular dystrophy juvenile-onset vitelliform macular dystrophy	ALOX12 ALPP ATRNL1 PYGM RGN RPE	239 250 26033 5837 6120 9104	Homo sapiens (human)

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