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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 **251 - 275** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism
DOID:3362	coronary aneurysm Aliases: Aneurysm of coronary vessels Aneurysmal lesion of coronary artery Arteriovenous aneurysm of coronary vessels	ACE ACSS2 ADIPOQ ITPKC MBL2 MICA PLA2G15 PLCB1 PLCB4 SRGN SULT1E1	100507436 1636 23236 23659 4153 5332 5552 55902 6783 80271 9370	Homo sapiens (human)
DOID:12971	hereditary spherocytosis Aliases: Congenital spherocytic hemolytic anemia Minkowski Chauffard syndrome spherocytic anemia	ACE CAT CD55 G6PD GAPDH HK1 PGK1 PTGS2 ST8SIA4 UGT1A10 UGT1A1 UGT1A4 UGT1A6 UGT1A7 UGT1A8 UMPS	1604 1636 2539 2597 3098 5230 54575 54576 54577 54578 54657 54658 5743 7372 7903 847	Homo sapiens (human)
DOID:4817	ganglioneuroma	CD44 CS LGALS3 NCAM1 PTEN SDHC SIGLEC7	1431 27036 3958 4684 5728 6391 960	Homo sapiens (human)
DOID:4890	juvenile myoclonic epilepsy	ALDH5A1 EXT1 NPL	2131 7915 80896	Homo sapiens (human)
DOID:9801	tuberculous peritonitis	CEACAM5 CEACAM7 PTGS2	1048 1087 5743	Homo sapiens (human)
DOID:10587	Krabbe disease Aliases: Diffuse globoid body sclerosis GLOBOID CELL LEUKOENCEPHALOPATHY Galactosylceramide beta-galactosidase deficiency Krabbe's disease Krabbe's leukodystrophy beta galactocerebrosidase deficiency globoid cell leukodystrophy	galca	449649	Danio rerio (zebrafish)
DOID:8725	vascular dementia Aliases: Multi Infarct Dementia multifocal dementia	sgg	31248	Drosophila melanogaster (fruit fly)
DOID:0112250	Gaucher's disease type IIIC Aliases: GD3C Gaucher disease type 3C Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome Gaucher-like disease cardiovascular Gaucher disease	gba-3 gba-4	177314 178535	Caenorhabditis elegans
DOID:14693	Clouston syndrome Aliases: Clouston's hidrotic ectodermal dysplasia Clouston's syndrome Hidrotic ectodermal dysplasia syndrome ectodermal dysplasia 2, Clouston type hidrotic ectodermal dysplasia	ACACA ACACB ACADVL ACOT7 ALOX15B ARSA B3GAT1 CD14 CD38 CD44 CTBS CYP11B1 CYP17A1 CYP19A1 DGKZ DHCR24 EOGT GAA GUSB HSD17B4 IGF2R MRC1 NAGA NAGLU PCYT1B PIK3CA PIK3CB PIK3CD PIK3CG PRKAA2 PTEN PTGS2 SDHB SIRT6 SMUG1 SOAT1 SORD SPHK1 VCAN	11332 1462 1486 1584 1586 1588 1718 23583 247 2548 27087 285203 2990 31 32 3295 3482 37 410 4360 4668 4669 51548 5290 5291 5293 5294 5563 5728 5743 6390 6646 6652 8525 8877 929 9468 952 960	Homo sapiens (human)
DOID:3770	pulmonary fibrosis Aliases: Fibrosis of lung	B3gat1 Bad Chi3l1 Tnf	117108 24835 64639 89824	Rattus norvegicus (Norway rat)
DOID:3021	acute kidney failure	GPX1 GPX2	852546 853842	Saccharomyces cerevisiae S288C
DOID:0110298	autosomal recessive limb-girdle muscular dystrophy type 2N Aliases: LGMD2N muscular dystrophy-dystroglycanopathy (limb-girdle) type C 2 muscular dystrophy-dystroglycanopathy limb-girdle POMT2-related	tw	31024	Drosophila melanogaster (fruit fly)
DOID:698	dentin sensitivity Aliases: Sensitive dentin	ISYNA1 NDUFAB1	4706 51477	Homo sapiens (human)
DOID:900	hepatopulmonary syndrome	Tnf	24835	Rattus norvegicus (Norway rat)
DOID:990	congenital heart block	CALR SIGLEC1	6614 811	Homo sapiens (human)
DOID:1591	renovascular hypertension	gspd-1	178046	Caenorhabditis elegans
DOID:0060679	catecholaminergic polymorphic ventricular tachycardia 5 Aliases: CVPT5	ACADVL ACE CALR CHPT1 FKRP FUT1 GOLPH3 GYG1 PTGS2 SCD	1636 2523 2992 37 56994 5743 6319 64083 79147 811	Homo sapiens (human)
DOID:1272	telangiectasis Aliases: telangiectasia	ACE CEACAM5 DGKE DPM1 PEMT PGAP2 PGAP3 PIGL PIGO PIGV PIGW PIGY PIK3CA PIK3CB PIK3CD PIK3CG PTEN SELE TALDO1	10400 1048 1636 27315 284098 5290 5291 5293 5294 55650 5728 6401 6888 84720 84992 8526 8813 93210 9487	Homo sapiens (human)
DOID:0080342	Simpson-Golabi-Behmel syndrome type 2	PIGA	5277	Homo sapiens (human)
DOID:0080555	congenital disorder of glycosylation Ic Aliases: congenital disorder of glycosylation 1c	algn-6	182392	Caenorhabditis elegans
DOID:0080322	polycystic kidney disease	Alg5 Myc Xylt2	24577 295051 64134	Rattus norvegicus (Norway rat)
DOID:0050908	myelodysplastic syndrome	Idh1 Tnf Trp53	15926 21926 22059	Mus musculus (house mouse)
DOID:2799	bronchiolitis obliterans Aliases: Bronchiolitis exudativa Bronchiolitis fibrosa obliterans Obliterative bronchiolitis	ACE CHI3L1 ICAM1 KLRK1 MBL2 PIK3CD SELE SFTPA1 SFTPD VCAN	1116 1462 1636 22914 3383 4153 5293 6401 6441 653509	Homo sapiens (human)
DOID:8552	chronic myeloid leukemia Aliases: CML CML - chronic Myelogenous Leukemia Myeloid Leukemia, chronic chronic granulocytic leukaemia chronic granulocytic leukemia chronic myelogenous leukaemia chronic myelogenous leukemia chronic myeloid leukaemia	Akt1	11651	Mus musculus (house mouse)
DOID:0110008	achromatopsia 3 Aliases: ACHM1 ACHM3 Pingelapese blindness RMCH1 rod monochromacy 1 rod monochromatism 1	NYX	60506	Homo sapiens (human)

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