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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 **3076 - 3100** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism
DOID:0050452	mevalonic aciduria Aliases: Mevalonate Kinase Deficiency	ABO ACE CHIT1 COL9A2 FDFT1 GLA GLO1 GPX1 LGALS3 LPIN2 LYZ MICA PIK3CG PRNP STS TNF	100507436 1118 1298 1636 2222 2717 2739 28 2876 3958 4069 412 5294 5621 7124 9663	Homo sapiens (human)
DOID:11963	esophagitis Aliases: acute esophagitis	Tnf	21926	Mus musculus (house mouse)
DOID:0050590	severe congenital neutropenia	ABO ACE AGA B3GAT1 CD177 CD33 CEL CHPT1 COG4 CYP1B1 CYP2B6 CYP2C19 CYP2C8 CYP2C9 CYP39A1 CYP3A5 DHDDS FCGR3B FH G6PC1 G6PC3 HMMR IDUA LPIN2 MBL2 MMUT NAMPT NCAM1 PARP1 PARP9 PCCA PCCB PGM3 PIK3CA PIK3CB PIK3CD PIK3CG SELP SLC17A5 SLC27A5 SLC35A1 SLC35A2 SLC37A4 TMTC3 TNFRSF10C UGGT1 UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A5 UGT1A6 UGT1A7 UGT1A8 UGT1A9 UMPS	10135 10559 1056 10998 142 1545 1555 1557 1558 1559 1577 160418 1636 175 2215 2271 2538 2542 25839 26503 27087 28 3161 3425 4153 4594 4684 5095 5096 51302 5238 5290 5291 5293 5294 54575 54576 54577 54578 54579 54600 54657 54658 54659 56886 56994 57126 6403 7355 7372 79947 83666 8794 92579 945 9663	Homo sapiens (human)
DOID:14695	galactokinase deficiency Aliases: Galactosemia II	Galk1	14635	Mus musculus (house mouse)
DOID:12365	malaria Aliases: induced malaria	G6pd Pklr Tnf	24377 24651 24835	Rattus norvegicus (Norway rat)
DOID:0110269	cataract 3 multiple types Aliases: CTRCT3 cataract 3 multiple types with or without microcornea	AGK ALDH7A1 CRYL1 CYP27A1 GALK1 GCNT2 GPC5 INPP5K LSS OCRL PTEN SLC33A1 SORD	1593 2262 2584 2651 4047 4952 501 51084 51763 55750 5728 6652 9197	Homo sapiens (human)
DOID:11394	adult respiratory distress syndrome Aliases: ARDS Non-cardiogenic pulmonary edema Shock lung acute respiratory distress syndrome adult RDS	ABO ACAA2 ACACA ACE ACO2 AKR1B10 AKR1B1 ALDH7A1 ALOX5 ARSD CAT CD14 CD44 CD55 CEL CLEC1B CYP1A1 CYP1A2 CYP1B1 CYP3A5 CYP3A7 DCN DGKA DHCR24 DPM2 EPHX2 FCN2 FUT3 GAD1 HADHA HPGDS HSD11B2 ICAM1 IL1R1 KL LCT LEP LGALS3 LPCAT1 LTC4S MBL2 MDH1 MTM1 NAAA NAMPT NDST1 NT5E PAFAH1B1 PARP9 PCYT1B PIK3CA PIK3CB PIK3CD PIK3CG PLA2G10 PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLA2G7 PLAUR PLB1 PLD1 PTEN PTGS1 PTGS2 RECK RENBP SFTPA1 SFTPA2 SFTPC SFTPD SLC27A5 SLC2A10 SMPD1 SMUG1 SRGN TM7SF2 TNF TPI1 UGT1A1 UGT8	10135 10449 1056 10998 151056 1543 1544 1545 1551 1577 1604 1606 1634 1636 1718 2053 2220 231 23583 240 2525 2571 27163 27306 28 3030 31 3291 3340 3383 3554 3938 3952 3958 4056 414 4153 4190 4534 4907 50 501 5048 51266 5290 5291 5293 5294 5319 5320 5321 5329 5337 54658 5552 57016 5728 5742 5743 5973 6440 6441 653509 6609 7108 7124 7167 729238 7368 7941 79888 81031 83666 8398 8399 8434 847 8818 929 9365 9468 960	Homo sapiens (human)
DOID:5826	breast lymphoma Aliases: Lymphoma of the breast lymphoma of breast malignant lymphoma of breast	HPSE SMUG1	10855 23583	Homo sapiens (human)
DOID:859	holocarboxylase synthetase deficiency Aliases: Biotin-(propionyl-CoA-carboxylase) ligase deficiency Multiple carboxylase deficiency - neonatal onset	PC	5091	Homo sapiens (human)
DOID:2450	central retinal vein occlusion	HPSE ICAM1 NDUFAB1 PLA2G1B PLA2G2A PLA2G6 PNP	10855 3383 4706 4860 5319 5320 8398	Homo sapiens (human)
DOID:0050747	obsolete lymphoplasmacytic lymphoma	ACADVL ACSBG1 ANXA5 CD22 CD38 CD55 CLEC12A COLEC10 FCER2 HAS1 HAS2 HMMR LIPC LPL NAMPT NCAM1 PIK3CA PIK3CB PIK3CD PIK3CG PLCG2 SLC35B2 SMUG1 SOAT1	10135 10584 160364 1604 2208 23205 23583 3036 3037 308 3161 347734 37 3990 4023 4684 5290 5291 5293 5294 5336 6646 933 952	Homo sapiens (human)
DOID:350	mastocytosis Aliases: mast cell hyperplasia	ACLY CALR CD33 CD38 CD44 CD72 CEL DHCR24 DLD ENOSF1 ENPP3 ETNK1 FCER2 FH GPX1 HS2ST1 HSPG2 ICAM1 IDH2 MCAT PIK3CA PIK3CB PIK3CD PIK3CG PLA2G2E PTGS2 SMPD1	1056 1718 1738 2208 2271 27349 2876 30814 3339 3383 3418 47 5169 5290 5291 5293 5294 55500 55556 5743 6609 811 945 952 960 9653 971	Homo sapiens (human)
DOID:0111012	cone-rod dystrophy 7 Aliases: CORD7	ELOVL4	6785	Homo sapiens (human)
DOID:13544	low tension glaucoma Aliases: Normal tension glaucoma	ABO ACOT8 AKR1B1 CYP1B1 ELOVL5 GALC GNS HK2 PTEN TLR4 TMTC2 TNF TP53	10005 1545 160335 231 2581 2799 28 3099 5728 60481 7099 7124 7157	Homo sapiens (human)
DOID:5574	VIPoma Aliases: VIP- Secreting tumor Vasoactive intestinal peptide-secreting tumor Vipoma, malignant malignant vasoactive intestinal peptide-secreting tumor	SMUG1	23583	Homo sapiens (human)
DOID:10211	cholelithiasis	ugt-61	185500	Caenorhabditis elegans
DOID:2846	bruxism Aliases: Bruxism - teeth grinding Grinding teeth Teeth grinding sleep related bruxism	PGAP3	93210	Homo sapiens (human)
DOID:0050855	renal fibrosis	ACE CYP2J2 LEPR PPARGC1A TLR2 TLR4	10891 1573 1636 3953 7097 7099	Homo sapiens (human)
DOID:2741	bilirubin metabolic disorder Aliases: hereditary hyperbilirubinemia hyperbilirubinemia	ATG26	850886	Saccharomyces cerevisiae S288C
DOID:0110131	Bardet-Biedl syndrome 9 Aliases: BBS9	INPP5E PIGX	54965 56623	Homo sapiens (human)
DOID:0112333	pontocerebellar hypoplasia type 16 Aliases: PCH16	MINPP1	9562	Homo sapiens (human)
DOID:10584	retinitis pigmentosa Aliases: pericentral pigmentary retinopathy	pomgnt1	571876	Danio rerio (zebrafish)
DOID:14080	glucocorticoid-remediable aldosteronism Aliases: GRA GRS familial hyperaldosteronism type I glucocorticoid-suppressible hyperaldosteronism	AKR1A1 CAT CBR1 CYP11B1 CYP11B2 CYP2B6 GML GPX1 ISYNA1	10327 1555 1584 1585 2765 2876 51477 847 873	Homo sapiens (human)
DOID:0060573	von Willebrand's disease 1 Aliases: VWD type 1 VWD1 von Willebrand disease type 1 von Willebrand disease type I	ABO BAAT HPSE	10855 28 570	Homo sapiens (human)
DOID:0070395	developmental and epileptic encephalopathy 110 Aliases: DEE110 early infantile epileptic encephalopathy 110	CACNA2D1	781	Homo sapiens (human)

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