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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 **1576 - 1600** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism
DOID:543	dystonia Aliases: dystonic disease	ACER3 ACHE ACOX1 ACSF3 ADH1C AGA ALDH5A1 ALDH6A1 ARSA ARSG ATP6V1A B3GALNT2 B4GALNT1 COMT CYB5R3 CYP27A1 CYP2U1 DBT DEGS1 DHDDS DLAT DLD DPEP1 ECHS1 GAD1 GBA1 GCDH GLB1 GM2A GPI GPX1 HEXD HIBCH HPRT1 INPP5K L2HGDH LMAN2L MAN1B1 MBOAT7 MDH2 MECR MMUT MYORG NDST1 OGA PAFAH1B1 PCCA PCCB PDHA1 PDHX PGAP1 PIGC PIGP PIGQ PIK3CA PLA2G6 PSAP PTEN RENBP SCP2 SDHA SDHD SLC39A8 SMUG1 ST3GAL3 ST3GAL5 SUCLA2 SYNJ1 TECR TPI1 TUSC3	10724 11253 113612 126 1312 148789 1593 1629 1727 1737 1738 175 1800 1892 197322 22901 23583 2571 2583 26275 2629 2639 2720 2760 2821 284004 2876 3251 3340 410 4191 43 4329 4594 5048 5095 5096 51 51102 51227 5160 51763 523 5279 5290 55331 5660 5728 57462 5973 6342 6389 6392 64116 6487 7167 79143 7915 7991 79944 79947 80055 8050 81562 8398 8560 8803 8867 8869 9091 9524	Homo sapiens (human)
DOID:3087	gingivitis Aliases: acute gingivitis chronic gingivitis	ACACA B4GALT7 FCN2 FMOD LYZ OCRL OGA PTGS2 SELE SMC3	10724 11285 2220 2331 31 4069 4952 5743 6401 9126	Homo sapiens (human)
DOID:0060358	multiple acyl-CoA dehydrogenase deficiency Aliases: MAD deficiency MADD electron transfer flavoprotein deficiency electron transfer flavoprotein ubiquinone oxidoreductase deficiency glutaric acidemia type 2 glutaric aciduria type 2	APRT CPT1A CPT2 OGA	10724 1374 1376 353	Homo sapiens (human)
DOID:4591	lymphoplasmacyte-rich meningioma Aliases: Lymphoplasmocyte-rich meningioma	ALDH1A3 ALOX5 CD44 CYP19A1 CYP1A1 CYP1B1 CYP4F3 DHCR24 FASN GPX1 HPGDS HPRT1 IL18R1 LARGE1 MUTYH OGA PIK3CA PIK3CB PIK3CD PIK3CG PLAUR PLB1 PTEN PTGDS PTGS1 PTGS2 SOAT1 TNKS	10724 151056 1543 1545 1588 1718 2194 220 240 27306 2876 3251 4051 4595 5290 5291 5293 5294 5329 5728 5730 5742 5743 6646 8658 8809 9215 960	Homo sapiens (human)
DOID:0080324	tuberous sclerosis 1	ABO AMACR APRT CANX CBR1 FCN2 HEXD ICAM1 MLYCD OGA OGG1 PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PLB1 PLCD1 PRKAA2 PTEN PTGS1 PTGS2 SDC2 SDHB SORD TKT	10724 151056 2220 23417 23600 28 284004 3383 353 4968 5289 5290 5291 5293 5294 5310 5333 5563 5728 5742 5743 6383 6390 6652 7086 821 873	Homo sapiens (human)
DOID:0080070	mucolipidosis II alpha/beta Aliases: I-cell disease inclusion-cell disease mucolipidosis II	APRT CALR DPAGT1 GNPTAB GNPTG GUSB IDUA IGF2R NAGPA OGA PLCD1 PLCG1	10724 1798 2990 3425 3482 353 51172 5333 5335 79158 811 84572	Homo sapiens (human)
DOID:0060123	connective tissue benign neoplasm Aliases: mesenchymal tissue neoplasm neoplasm of soft tissue neoplasm of soft tissues soft tissue benign neoplasm tumor of the soft tissue	IDH1 IL1R1 NANS OGA SMUG1	10724 23583 3417 3554 54187	Homo sapiens (human)
DOID:0111392	mucopolysaccharidosis type IVB Aliases: MPS IVB MPS4B Morquio disease type B Morquio syndrome B beta-D-galactosidase deficiency mucopolysaccharidosis type IVB (Morquio)	CTSA GALNS GLB1 IDUA NEU1 OGA	10724 2588 2720 3425 4758 5476	Homo sapiens (human)
DOID:0070226	progressive familial intrahepatic cholestasis 1 Aliases: FIC1 deficiency PFIC1	ABO GGT1 HSD3B7 NAGLU OGA	10724 2678 28 4669 80270	Homo sapiens (human)
DOID:3323	Sandhoff disease Aliases: Sandhoff Jatzkewitz disease	ARSA GLB1 GM2A HEXA HEXB HEXD OGA UGCG	10724 2720 2760 284004 3073 3074 410 7357	Homo sapiens (human)
DOID:3321	GM2 gangliosidosis Aliases: gangliosidosis GM2	GLB1 GM2A HEXA HEXB HEXD OGA UGT8	10724 2720 2760 284004 3073 3074 7368	Homo sapiens (human)
DOID:2368	gangliosidosis	GLB1 HEXA HEXB OGA PNP	10724 2720 3073 3074 4860	Homo sapiens (human)
DOID:0080071	mucolipidosis III alpha/beta Aliases: mucolipidosis III pseudo-Hurler polydystrophy	GLB1 GNPTAB GNPTG NAGPA OGA	10724 2720 51172 79158 84572	Homo sapiens (human)
DOID:4795	GM2 gangliosidosis, AB variant Aliases: Tay-Sachs disease AB variant Tay-Sachs disease, variant AB	GM2A HEXA HEXB OGA	10724 2760 3073 3074	Homo sapiens (human)
DOID:0060173	Timothy syndrome	HEXD OGA PRKAA2 SCD	10724 284004 5563 6319	Homo sapiens (human)
DOID:0110649	long QT syndrome 8 Aliases: LQT8	HEXD OGA PRKAA2	10724 284004 5563	Homo sapiens (human)
DOID:4078	tricuspid valve stenosis Aliases: Tricuspid stenosis	CHST3 HEXD OGA	10724 284004 9469	Homo sapiens (human)
DOID:0080552	congenital disorder of glycosylation Ia Aliases: PMM2-congenital disorder of glycosylation congenital disorder of glycosylation 1a	ALG6 IGF2 MPI OGA PMM1 PMM2	10724 29929 3481 4351 5372 5373	Homo sapiens (human)
DOID:1679	cystitis	CAT IMPA1 MBL2 NAGLU OGA PIK3CA PIK3CB PIK3CD PIK3CG PRKAA2 PTGS2 TNF	10724 3612 4153 4669 5290 5291 5293 5294 5563 5743 7124 847	Homo sapiens (human)
DOID:13507	trigonitis	CAT IMPA1 MBL2 NAGLU OGA PIK3CA PIK3CB PIK3CD PIK3CG PRKAA2 PTGS2	10724 3612 4153 4669 5290 5291 5293 5294 5563 5743 847	Homo sapiens (human)
DOID:3181	oligodendroglioma Aliases: oligodendroglial neoplasm oligodendroglial tumor	ACLY CD44 CHI3L1 CNTN2 CSPG4 DHDDS ENO2 FASN GLUL HPSE HSPG2 IDH1 IDH2 LGALS1 LGALS3 MMUT PIK3CA PIK3CB PIK3CD PIK3CG PLA2G4A PLA2G4C PLCB1 PTEN PTGES3 PTGS2 SDHB SULT1E1 UGT8	10728 10855 1116 1464 2026 2194 23236 2752 3339 3417 3418 3956 3958 4594 47 5290 5291 5293 5294 5321 5728 5743 6390 6783 6900 7368 79947 8605 960	Homo sapiens (human)
DOID:0070227	intrahepatic cholestasis of pregnancy Aliases: ICP gravidic intrahepatic cholestasis pregnancy related cholestasis recurrent intrahepatic cholestasis of pregnancy	ACE CHI3L1 HPRT1 ISYNA1 KLB PLA2G1B PLA2G2A PLA2G6 PNPLA3 PTGES3 SLC17A5 VCAM1	10728 1116 152831 1636 26503 3251 51477 5319 5320 7412 80339 8398	Homo sapiens (human)
DOID:13417	alexia Aliases: Aphemesthaesia acquired dyslexia	ARSD COMT CYP19A1 DGKI DLD EPM2A GNPTAB GNPTG NAGPA NCAN PARP1 PLA2G6 PTGES3	10728 1312 142 1463 1588 1738 414 51172 79158 7957 8398 84572 9162	Homo sapiens (human)
DOID:4428	dyslexia	ARSD COMT CYP19A1 DGKI DLD EPM2A GNPTAB GNPTG NAGPA NCAN PARP1 PLA2G6 PTGES3	10728 1312 142 1463 1588 1738 414 51172 79158 7957 8398 84572 9162	Homo sapiens (human)
DOID:1733	cryptosporidiosis Aliases: Cryptosporidial gastroenteritis Infection by Cryptosporidium intestinal cryptosporidiosis	ICAM1 IMPA1 MBL2 PLB1 PTGES3 UNG	10728 151056 3383 3612 4153 7374	Homo sapiens (human)

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