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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 **4601 - 4625** of **7942** in total

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Disease ID	Disease Name ▲	Gene Symbol	Gene ID	Organism
DOID:0060695	hyperekplexia Aliases: Kok disease congenital stiff man syndrome familial startle disease hereditary hyperekplexia startle disease	PRNP	5621	Homo sapiens (human)
DOID:999	hypereosinophilic syndrome Aliases: Eosinophilic leukocytosis eosinophilia	ACOT7 CD1D CEL CLEC10A CYP2C19 ETNK1 EXTL3 HPGDS HS2ST1 HSPG2 ICAM1 IL18R1 IL1RL1 LGALS9 LPCAT1 MBL2 NDST1 PARP1 PARP9 PGM3 PLA2G5 PTEN PTGDS PTGS2 SDC2 SELL SFTPA2 SFTPD SIGLEC8 SLC27A5 TNFRSF10C VCAM1	10462 1056 10998 11332 142 1557 2137 27181 27306 3339 3340 3383 3965 4153 5238 5322 55500 5728 5730 5743 6383 6402 6441 729238 7412 79888 83666 8794 8809 912 9173 9653	Homo sapiens (human)
DOID:0111256	hyperferritinemia-cataract syndrome Aliases: Bonneau-Beaumont syndrome HHCS HRFTC cataract-hyperferritinemia syndrome hereditary hyperferritinemia with congenital cataracts hereditary hyperferritinemia-cataract syndrome hyperferritinemia with or without cataract	GCNT2	2651	Homo sapiens (human)
DOID:4195	hyperglycemia	Adrb1 Akr1b1 Gck Htr2a Ldha Lepr Pdx1 Pla2g4a Ppargc1a	103988 11554 11677 15558 16828 16847 18609 18783 19017	Mus musculus (house mouse)
DOID:4195	hyperglycemia	ACACA ACAT1 ACE ACHE ACSM3 AKR1B1 ALDH2 ALDOB ANXA5 APRT ARSA ASAH1 CAT CD33 CD44 CEACAM5 CEL CERS2 CPT1A CPT2 CTSA CYP11A1 CYP1B1 CYP2C9 CYP2E1 DCN DEGS1 DGKD DLD ELOVL1 ELOVL5 ENO1 ENO2 ENPP1 EPHX2 FASN FBXO2 FCGR3B G6PC1 G6PC2 GAD1 GAL3ST1 GALNT2 GCK GFPT1 GFPT2 GGT1 GLDC GLO1 GLUL GPX1 GPX5 GUSB GYS2 HAS2 HK2 HK3 HKDC1 HPGDS HPRT1 HPSE HSD11B1 HSPG2 HTR2A ICAM1 IL1R1 INPP5F KL KLRK1 LDHA LEPR LGALS1 LGALS3 LPCAT3 LPL MBL2 MCAT MGAM MPG NAMPT NEU1 OGG1 PARP1 PC PCK1 PCK2 PDHX PDX1 PFKM PIK3CA PIK3CB PIK3CD PIK3CG PKLR PKM PLA2G2A PLA2G4A PLA2G6 PLAUR PLB1 PNPLA3 PPARGC1A PRKAA2 PRNP PTEN PTGDS PTGS1 PTGS2 RENBP SCD SCP2 SDC1 SDC2 SDC4 SELE SGPL1 SI SIGLEC7 SIRT2 SIRT6 SLC17A5 SLC2A2 SLC2A3 SLC2A4 SLC35A1 SLC35G1 SLC5A1 SMUG1 SOAT1 SORD ST3GAL4 SULT1E1 TKT TM7SF2 UGCG VCAM1 VCAN	10135 10162 1048 10559 1056 10855 10891 1374 1376 142 1462 151056 1545 1559 1571 1583 159371 1634 1636 1738 2023 2026 2053 217 2194 2215 22876 229 22914 22933 231 23583 2538 2571 2590 26232 2645 26503 2673 2678 27036 27306 2731 27349 2739 2752 2876 2880 2990 29956 2998 3037 308 3099 31 3101 3251 3290 3339 3356 3383 353 3554 3651 38 3939 3953 3956 3958 4023 410 4153 427 43 4350 4758 4968 5091 5105 5106 51548 5167 5213 5290 5291 5293 5294 5313 5315 5320 5321 5329 5476 5563 5621 5728 5730 5742 5743 57818 5973 60481 6296 6319 6342 6382 6383 6385 6401 6476 64834 6484 6514 6515 6517 6523 6646 6652 6783 7086 7108 7357 7412 80201 80339 8050 8398 847 8527 8560 8879 8972 9365 945 9514 960 9945	Homo sapiens (human)
DOID:4195	hyperglycemia	CDC19 GCY1 GLK1 PYK2 YPR1	850317 851193 851974 854287 854529	Saccharomyces cerevisiae S288C
DOID:4195	hyperglycemia	Adrb1 Akr1b1 Gck Htr2a Ldha Lepr Pdx1 Pklr Ppargc1a	24192 24385 24533 24536 24651 24925 29535 29595 83516	Rattus norvegicus (Norway rat)
DOID:4195	hyperglycemia	Hex-t1 Ldh PyK Sdc trol	117364 37447 42620 45320 45880	Drosophila melanogaster (fruit fly)
DOID:9279	hyperhomocysteinemia	ZWF1	855480	Saccharomyces cerevisiae S288C
DOID:9279	hyperhomocysteinemia	Zw	32974	Drosophila melanogaster (fruit fly)
DOID:9279	hyperhomocysteinemia	Atp1a2 G6pd	24212 24377	Rattus norvegicus (Norway rat)
DOID:9279	hyperhomocysteinemia	gspd-1	178046	Caenorhabditis elegans
DOID:9279	hyperhomocysteinemia	ACE ADH5 ALOX5 ATP1A2 CAT CYP1A1 CYP2J2 FOLR1 FOLR2 G6PD GPX1 GPX7 HSD11B1 ICAM1 MBL2 OLR1 PC PIK3CA PIK3CB PIK3CD PIK3CG PKM PTGS2 SHMT1 SLC33A1 SMPD1 VCAM1	128 1543 1573 1636 2348 2350 240 2539 2876 2882 3290 3383 4153 477 4973 5091 5290 5291 5293 5294 5315 5743 6470 6609 7412 847 9197	Homo sapiens (human)
DOID:9279	hyperhomocysteinemia	Atp1a2 G6pd2 G6pdx	14380 14381 98660	Mus musculus (house mouse)
DOID:13317	hyperinsulinemic hypoglycemia Aliases: Islet cell hyperplasia nesidioblastosis persistent hyperinsulinemia hypoglycemia of infancy	Gck	103988	Mus musculus (house mouse)
DOID:13317	hyperinsulinemic hypoglycemia Aliases: Islet cell hyperplasia nesidioblastosis persistent hyperinsulinemia hypoglycemia of infancy	Hex-t1 Hex-t2	117364 43191	Drosophila melanogaster (fruit fly)
DOID:13317	hyperinsulinemic hypoglycemia Aliases: Islet cell hyperplasia nesidioblastosis persistent hyperinsulinemia hypoglycemia of infancy	Gck	24385	Rattus norvegicus (Norway rat)
DOID:13317	hyperinsulinemic hypoglycemia Aliases: Islet cell hyperplasia nesidioblastosis persistent hyperinsulinemia hypoglycemia of infancy	CEL EHHADH GCK HADH HAO1 HAO2 HK2 HK3 HKDC1 MCAT MPI PDHX PGM1 PMM2	1056 1962 2645 27349 3033 3099 3101 4351 51179 5236 5373 54363 80201 8050	Homo sapiens (human)
DOID:13317	hyperinsulinemic hypoglycemia Aliases: Islet cell hyperplasia nesidioblastosis persistent hyperinsulinemia hypoglycemia of infancy	EMI2 GLK1 HXK1 HXK2	850317 850614 852128 852639	Saccharomyces cerevisiae S288C
DOID:2018	hyperinsulinism Aliases: hyperinsulinemia	Gck Ins1 Ins2 Kcnj11 Lep Lepr Pfkfb1 Rbp4	24385 24505 24506 24536 24638 25608 25703 83535	Rattus norvegicus (Norway rat)
DOID:2018	hyperinsulinism Aliases: hyperinsulinemia	Hex-t1 Hex-t2	117364 43191	Drosophila melanogaster (fruit fly)
DOID:2018	hyperinsulinism Aliases: hyperinsulinemia	ACACA ACE ACLY ADIPOQ AGPAT2 AKR1C3 ALDH2 AMY1A AMY1B AMY1C CA4 CANX CD14 CPT1A CRYL1 CS CYP17A1 CYP19A1 CYP1A2 DHDDS EHHADH ELOVL6 ENPP1 FASN FCGR3B FCN2 G6PC1 G6PC2 GCK GFPT1 GLA GLB1 GPX1 H6PD HADH HGSNAT HK2 HPGDS HSD11B1 IDH3A IDH3B INS KCNJ11 KL LEP LEPR LIPC LPIN1 LPL MELTF MGAT5 MPI NEIL1 OGT PDHX PFKFB1 PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PMM2 PNPLA2 PNPLA3 POMGNT1 PRKAA2 PTEN PTGDS RBP4 RENBP SCD SFTPA1 SFTPA2 SFTPC SIGLEC7 SIRT4 SLC2A3 SLC2A4 ST3GAL4 TM7SF2 UGDH UGT1A1 VCAM1	10555 1374 138050 1431 1544 1586 1588 1636 1962 217 2194 2215 2220 23175 23409 2538 2645 2673 27036 2717 2720 27306 276 277 278 2876 3033 3099 31 3290 3419 3420 3630 3767 3952 3953 3990 4023 4241 4249 4351 47 51084 5167 5207 5290 5291 5293 5294 5310 5373 54658 55624 5563 57104 5728 5730 57818 5950 5973 6319 6440 6484 6515 6517 653509 7108 729238 7358 7412 762 79071 79661 79947 80339 8050 821 8473 8644 929 9365 9370 9563	Homo sapiens (human)
DOID:2018	hyperinsulinism Aliases: hyperinsulinemia	ins.L ins.S	378695 378696	Xenopus laevis (African clawed frog)
DOID:2018	hyperinsulinism Aliases: hyperinsulinemia	Adipoq Gck Ins1 Ins2 Kcnj11 Lep Lepr Pfkfb1 Rbp4	103988 11450 16333 16334 16514 16846 16847 18639 19662	Mus musculus (house mouse)
DOID:2018	hyperinsulinism Aliases: hyperinsulinemia	pfkb-1.2	177363	Caenorhabditis elegans

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