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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 **4426 - 4450** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism
DOID:0060074	ductal carcinoma in situ	Trp53 Tymp	22059 72962	Mus musculus (house mouse)
DOID:11615	penile cancer Aliases: Ca penis Penile Ca malignant Penile tumor malignant neoplasm of body of penis penile neoplasm	PIK3CA PIK3CB PIK3CD PIK3CG SMUG1	23583 5290 5291 5293 5294	Homo sapiens (human)
DOID:0112218	developmental and epileptic encephalopathy 83 Aliases: DEE83 early infantile epileptic encephalopathy 83	UGP2	7360	Homo sapiens (human)
DOID:0111237	congenital muscular dystrophy-dystroglycanopathy type A1 Aliases: MDDGA1 Walker-Warburg syndrome or muscle-eye-brain disease, POMT1-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A1	ALG1 B3GALNT2 B3GNT2 B4GAT1 CRPPA DAG1 FKRP FKTN GMPPB LARGE1 POMGNT1 POMGNT2 POMK POMT1 POMT2 RXYLT1	10329 10585 10678 11041 148789 1605 2218 29925 29954 55624 56052 729920 79147 84197 84892 9215	Homo sapiens (human)
DOID:607	paraplegia Aliases: Paraplegia, lower	Akt1	24185	Rattus norvegicus (Norway rat)
DOID:5082	liver cirrhosis Aliases: Cirrhosis cirrhosis of liver	parp-1	266823	Caenorhabditis elegans
DOID:5482	cystadenofibroma	PIK3CA	5290	Homo sapiens (human)
DOID:3070	high grade glioma Aliases: Neuroglial tumor glial cell tumor glioma, malignant malignant Neuroglial tumor malignant glioma	st6gal1	445376	Danio rerio (zebrafish)
DOID:2741	bilirubin metabolic disorder Aliases: hereditary hyperbilirubinemia hyperbilirubinemia	ugt-61 ugt-62	175591 185500	Caenorhabditis elegans
DOID:0050073	invasive aspergillosis	Tl	43222	Drosophila melanogaster (fruit fly)
DOID:5453	pulmonary venoocclusive disease Aliases: pulmonary veno-occlusive disease	Atf4	11911	Mus musculus (house mouse)
DOID:0080319	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia Aliases: XMEN	OST3	854252	Saccharomyces cerevisiae S288C
DOID:0110676	congenital myasthenic syndrome 13 Aliases: CMS13 CMSTA2 congenital myasthenic syndrome 13 with tubular aggregates congenital myasthenic syndrome with tubular aggregates 2	Dpagt1	300668	Rattus norvegicus (Norway rat)
DOID:9146	visceral leishmaniasis Aliases: Infection by visceral leishmaniasis Kala-Azar	ACSS2 APRT CD14 CD44 CYP51A1 DPAGT1 FCN2 FH G6PD GAPDH GCK H6PD INPP5D LGALS1 LGALS3 LPL MBL2 MPG MRC1 NCAM1 PIGZ PIK3CA PIK3CB PIK3CD PRKAA2 SELL SLC17A5 SMPD2 SMUG1 SOAT1 TNF UNG	1595 1798 2220 2271 23583 2539 2597 2645 26503 353 3635 3956 3958 4023 4153 4350 4360 4684 5290 5291 5293 5563 55902 6402 6610 6646 7124 7374 80235 929 9563 960	Homo sapiens (human)
DOID:0050574	L-2-hydroxyglutaric aciduria Aliases: L-2-HYDROXYGLUTARIC ACIDEMIA	L2HGDH	79944	Homo sapiens (human)
DOID:0050827	rheumatic heart disease Aliases: rheumatic carditis	Gapdh	14433	Mus musculus (house mouse)
DOID:13268	porphyria Aliases: Hematoporphyria Porphyrinopathy disorder of porphyrin and hem metabolism disorder of porphyrin metabolism	ACO1 CYP2B6 GBE1	1555 2632 48	Homo sapiens (human)
DOID:4029	gastritis Aliases: Erosive Gastritis Erosive gastropathy acute gastric mucosal erosion	Tnf	24835	Rattus norvegicus (Norway rat)
DOID:14250	Down syndrome Aliases: Complete trisomy 21 syndrome Down's syndrome Down's syndrome - trisomy 21 Downs syndrome G Trisomy trisomy 21 syndrome	pofut2	779585	Xenopus tropicalis (tropical clawed frog)
DOID:2730	epidermolysis bullosa Aliases: acantholysis bullosa	B3GAT1 CEACAM5 HSPG2 PLOD3 SDC2	1048 27087 3339 6383 8985	Homo sapiens (human)
DOID:8719	in situ carcinoma	akt1.S	399170	Xenopus laevis (African clawed frog)
DOID:0081210	autosomal recessive intellectual developmental disorder 46	sfl	38736	Drosophila melanogaster (fruit fly)
DOID:0111035	CADASIL 1 Aliases: autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 1	N	31293	Drosophila melanogaster (fruit fly)
DOID:11265	trachoma Aliases: active stage trachoma trachoma dubium	Tnf	24835	Rattus norvegicus (Norway rat)
DOID:0110265	cataract 31 multiple types Aliases: CTRCT31	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)

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