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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 **2426 - 2450** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism
DOID:0060581	Noonan syndrome 3 Aliases: NS3	ACADS AMT ARSA ARSD B4GALT7 BAAT CAT CHPT1 CYP11A1 DAG1 DCN DHDDS FOLR1 GALNT14 GAPDH GCSH GLB1 GLDC GPI HSPG2 KL OGG1 PARP1 PGAM2 PIK3CA PIK3CB PIK3CD PIK3CG PRNP PTEN SGPL1 SMC3 STS TNKS XYLT2	11285 142 1583 1605 1634 2348 2597 2653 2720 2731 275 2821 3339 35 410 412 414 4968 5224 5290 5291 5293 5294 5621 56994 570 5728 64132 79623 79947 847 8658 8879 9126 9365	Homo sapiens (human)
DOID:0110296	autosomal recessive limb-girdle muscular dystrophy type 2M Aliases: LGMD2M MDDGC4 muscular dystrophy-dystroglycanopathy (limb-girdle) type C 4	fktn	100124956	Xenopus tropicalis (tropical clawed frog)
DOID:0070266	congenital disorder of glycosylation type IIn Aliases: CDG IIn CDG syndrome type IIn CDG2N CDGIIdn Carbohydrate deficient glycoprotein syndrome type IIn Congenital disorder of glycosylation type 2n SLC39A8-CDG	SLC39A8	64116	Homo sapiens (human)
DOID:0110312	hypertrophic cardiomyopathy 6 Aliases: CMH6 cardiomyopathy, familial hypertrophic 6	Prkag2	108099	Mus musculus (house mouse)
DOID:11724	limb-girdle muscular dystrophy Aliases: Erb's muscular dystrophy Leyden-Mbius muscular dystrophy limb girdle muscular dystrophy	CG15651	37375	Drosophila melanogaster (fruit fly)
DOID:0111458	galactose epimerase deficiency Aliases: GALE deficiency GALE-D UDP-galactose-4-epimerase deficiency epimerase deficiency galactosemia galactosemia III galactosemia type 3 uridine diphosphate galactose-4-epimerase deficiency	Gale	74246	Mus musculus (house mouse)
DOID:14067	Plasmodium falciparum malaria Aliases: Malaria fever, subtertian falciparum malaria malignant tertian fever	abo.1 abo.2 abo.3 abo.4	100497509 549437 549858 550054	Xenopus tropicalis (tropical clawed frog)
DOID:0081180	autosomal recessive intellectual developmental disorder 12	St3gal3	20441	Mus musculus (house mouse)
DOID:0080552	congenital disorder of glycosylation Ia Aliases: PMM2-congenital disorder of glycosylation congenital disorder of glycosylation 1a	Pmm2	39436	Drosophila melanogaster (fruit fly)
DOID:14110	anus cancer Aliases: anal cancer malignant anal tumor	CEACAM5 LIPA PIK3CA PIK3CB PIK3CD PIK3CG SMUG1	1048 23583 3988 5290 5291 5293 5294	Homo sapiens (human)
DOID:401	multidrug-resistant tuberculosis	HACD1 NCAM1 PTGS2 RENBP SMUG1	23583 4684 5743 5973 9200	Homo sapiens (human)
DOID:13088	periventricular leukomalacia	Tnf	24835	Rattus norvegicus (Norway rat)
DOID:594	panic disorder Aliases: panic anxiety syndrome	Manea	140808	Rattus norvegicus (Norway rat)
DOID:0110732	neuronal ceroid lipofuscinosis 11 Aliases: CLN11	ACLY ARSG CLN5 EPM2A GAD1 GAD2 LGALS1 PKD1 PPT1 PPT2 PSAP	1203 22901 2571 2572 3956 47 5310 5538 5660 7957 9374	Homo sapiens (human)
DOID:13200	substernal goiter Aliases: Retrosternal thyroid goiter Retrosternal thyroid goitre substernal goitre	ALPI ALPP CEACAM5 CYP1A1 GFRA1 HSD11B2 LGALS3 NCAM1 PTEN PTGS2 QPRT SMUG1	1048 1543 23475 23583 248 250 2674 3291 3958 4684 5728 5743	Homo sapiens (human)
DOID:0080365	endometrial hyperplasia	AKR1C1 AKR1C3 CHST3 COMT CYP11A1 CYP17A1 CYP19A1 CYP1A1 HSD17B7 MRC1 PIK3CA PKM PNPLA2 PTEN PTGS2 STS SULT1E1 TFF1	1312 1543 1583 1586 1588 1645 412 4360 51478 5290 5315 57104 5728 5743 6783 7031 8644 9469	Homo sapiens (human)
DOID:0060669	cerebral cavernous malformation Aliases: cavernous angiomatous malformations cerebral capillary malformations familial cavernous angioma	Pik3ca	170911	Rattus norvegicus (Norway rat)
DOID:767	muscular atrophy Aliases: Amyotrophia Muscle wasting Wasting - muscle	Dg	36773	Drosophila melanogaster (fruit fly)
DOID:14174	central neurocytoma Aliases: Neurolipocytoma	IDH1	3417	Homo sapiens (human)
DOID:1074	kidney failure Aliases: renal failure	parp-1	266823	Caenorhabditis elegans
DOID:0050813	spondyloepiphyseal dysplasia with congenital joint dislocations Aliases: CHONDRODYSPLASIA WITH MULTIPLE DISLOCATIONS CHST3-Related Skeletal Dysplasia Humero-spinal dysostosis with congenital heart disease Kozlowski Celermajer Tink syndrome Omani Type Spondyloepiphyseal Dysplasia humero-spinal dysostosis humerospinal dysostosis	CHST3	9469	Homo sapiens (human)
DOID:9884	muscular dystrophy	Col6a1 Dysf Fkrp Fktn Pomgnt1 Pomt1 Pomt2 Tnf	12833 217734 21926 243853 246179 26903 68273 99011	Mus musculus (house mouse)
DOID:8442	paralytic ileus	IDS L1CAM PTEN SDHD	3423 3897 5728 6392	Homo sapiens (human)
DOID:0111453	2-aminoadipic 2-oxoadipic aciduria Aliases: AMOXAD alpha-aminoadipic aciduria	DHTKD1	55526	Homo sapiens (human)
DOID:0110292	autosomal recessive limb-girdle muscular dystrophy type 2O Aliases: LGMD2O MDDGC3 muscular dystrophy-dystroglycanopathy (limb-girdle) type C3 muscular dystrophy-dystroglycanopathy limb-girdle POMGNT1-related	ACAN ACE ACHE AGK AGL ALDH7A1 ALOX12 ALPP APRT ATRNL1 B3GALNT2 B4GALNT2 B4GAT1 CD44 CHKA CHKB CRPPA CTNS DAG1 DCN DPEP1 DPM1 DPM2 DPM3 ENO1 FKRP FKTN GAA GK GLB1 GMPPB GNE HACD1 HPGDS HSPG2 IDH2 IMPA1 INPP5B INPP5K LARGE1 LARGE2 LGALS3 MBL2 MGAM PARP1 PIK3C2A PMM2 POGLUT1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PRG2 PRKAA2 PYGM RGN RXYLT1 SDC2 SI SIRT2 SLC3A1 ST3GAL4 SYNJ1 SYNJ2	10020 10329 10585 11041 1119 1120 120071 124872 142 148789 1497 1605 1634 1636 176 178 1800 2023 2218 22933 239 250 2548 26033 2710 2720 27306 29925 29954 3339 3418 353 3612 3633 3958 4153 43 501 51763 5286 5373 54344 5553 55624 5563 55750 56983 5837 6383 6476 6484 6519 729920 79147 84197 84892 8813 8818 8867 8871 8972 9104 9200 9215 960	Homo sapiens (human)

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