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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 **3301 - 3325** of **7942** in total

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Disease ID	Disease Name ▼	Gene Symbol	Gene ID	Organism
DOID:0070433	hyperphosphatasia with impaired intellectual development syndrome 1 Aliases: GPIBD2 HPMRS1 glycosylphosphatidylinositol biosynthesis defect 2 hyperphosphatasia with mental retardation syndrome 1	PIGV	55650	Homo sapiens (human)
DOID:0070433	hyperphosphatasia with impaired intellectual development syndrome 1 Aliases: GPIBD2 HPMRS1 glycosylphosphatidylinositol biosynthesis defect 2 hyperphosphatasia with mental retardation syndrome 1	pigv	100380028	Xenopus tropicalis (tropical clawed frog)
DOID:0070433	hyperphosphatasia with impaired intellectual development syndrome 1 Aliases: GPIBD2 HPMRS1 glycosylphosphatidylinositol biosynthesis defect 2 hyperphosphatasia with mental retardation syndrome 1	GPI18	852289	Saccharomyces cerevisiae S288C
DOID:13543	hyperparathyroidism	Myc	24577	Rattus norvegicus (Norway rat)
DOID:13543	hyperparathyroidism	ACE G6PD KL OCRL PLCB3 PTGS2 SDHB SMUG1	1636 23583 2539 4952 5331 5743 6390 9365	Homo sapiens (human)
DOID:13543	hyperparathyroidism	Myc	17869	Mus musculus (house mouse)
DOID:205	hyperostosis Aliases: bone hypertrophy hypertrophy of bone	ALPL ANXA5 EBP EXT1 EXT2 GALNT3 PIK3CA PIK3CB PIK3CD PIK3CG PTEN	10682 2131 2132 249 2591 308 5290 5291 5293 5294 5728	Homo sapiens (human)
DOID:9834	hyperopia Aliases: Far-sightedness farsightedness hypermetropia	ATP6AP1 ATP6V1A B3GAT3 CHST3 FKTN MAG MAN1B1 PGAP2 PGAP3 PIGL PIGO PIGT PIGV PIGW PIGY POMT2 RPE SLC35A2 SLC39A8	11253 2218 26229 27315 284098 29954 4099 51604 523 537 55650 6120 64116 7355 84720 84992 93210 9469 9487	Homo sapiens (human)
DOID:0080537	hypermanganesemia with dystonia 2	Slc39a14	213053	Mus musculus (house mouse)
DOID:0080537	hypermanganesemia with dystonia 2	SLC39A14	23516	Homo sapiens (human)
DOID:9274	hyperlysinemia	GAD1 GCDH HMGCL PC	2571 2639 3155 5091	Homo sapiens (human)
DOID:1171	hyperlipoproteinemia type V Aliases: Fredrickson type V lipaemia familial hyperlipoproteinemia type V familial type 5 hyperlipoproteinemia	AMT DGAT1 GPIHBP1 LCAT LPL PNPLA2	275 338328 3931 4023 57104 8694	Homo sapiens (human)
DOID:1172	hyperlipoproteinemia type IV Aliases: Endogenous hyperlipidaemia Fredrickson type IV Lipidemia Fredrickson type IV hyperlipoproteinemia Fredrickson type IV lipidaemia VLDL hyperlipoproteinemia familial hypertriglyceridemia	LPL	4023	Homo sapiens (human)
DOID:3145	hyperlipoproteinemia type III Aliases: Remnant hyperlipidemia carbohydrate induced hyperlipemia familial hypercholesterolaemia with hyperlipaemia familial type 3 hyperlipoproteinemia	CD44 CYP27A1 LPL SMUG1 SULF2	1593 23583 4023 55959 960	Homo sapiens (human)
DOID:14451	hyperkalemic periodic paralysis Aliases: familial hyperkalemic periodic paralysis	PRKAA2	5563	Homo sapiens (human)
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	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	Hex-t1 Hex-t2	117364 43191	Drosophila melanogaster (fruit fly)
DOID:2018	hyperinsulinism Aliases: hyperinsulinemia	pfkb-1.2	177363	Caenorhabditis elegans
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	ins	30262	Danio rerio (zebrafish)
DOID:2018	hyperinsulinism Aliases: hyperinsulinemia	EMI2 FBP26 GLK1 HXK1 HXK2	850317 850614 852128 852639 853286	Saccharomyces cerevisiae S288C
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)

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