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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 **6126 - 6150** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism
DOID:0111253	neurofibromatosis 1 Aliases: NF1 Peripheral Neurofibromatosis Recklinghausen's neurofibromatosis neurofibromatosis type I von Recklinghausen Disease	APRT CD14 CD38 CEL CNTN2 DHDDS ENO2 FH G6PD HSD17B6 IDH1 IDH2 MRC1 PGD PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PTEN SDHB SDHC SDHD SMUG1 SORD	1056 2026 2271 23583 2539 3417 3418 353 4360 5226 5290 5291 5293 5294 5310 5728 6390 6391 6392 6652 6900 79947 8630 929 952	Homo sapiens (human)
DOID:0080222	pseudohypoparathyroidism type IB	ASAH1	427	Homo sapiens (human)
DOID:0060692	platelet-type bleeding disorder 8 Aliases: ADP platelet receptor P2Y12 defect P2Y12 defect	ABO ATP6V0A2 CANX PDIA3	23545 28 2923 821	Homo sapiens (human)
DOID:9953	acute biphenotypic leukemia Aliases: mixed phenotype acute leukemia	ABO ACE CALR CD14 CD22 CD33 CD38 CD55 CRYL1 CYP1A1 CYP2B6 CYP3A4 CYP3A5 FUT4 HACD1 HPGDS HPRT1 HPSE2 IDH1 IDH2 IDUA INPP5D LGALS1 NAAA NCAM1 OGG1 PARP1 PIGL PIK3CA PIK3CB PIK3CD PIK3CG PLA2R1 SELE SIGLEC7 SMUG1 SOAT1 STS UNG VCAN XYLT2	142 1462 1543 1555 1576 1577 1604 1636 22925 23583 2526 27036 27163 27306 28 3251 3417 3418 3425 3635 3956 412 4684 4968 51084 5290 5291 5293 5294 60495 6401 64132 6646 7374 811 9200 929 933 945 9487 952	Homo sapiens (human)
DOID:13789	staphyloma posticum	HADHA	3030	Homo sapiens (human)
DOID:0050690	brachyolmia Aliases: brachyrachia	PAPSS2	9060	Homo sapiens (human)
DOID:10534	stomach cancer Aliases: gastric cancer gastric neoplasm	GCY1 IDP2 IDP3 YBR053C YPR1	850871 851974 852342 854287 855723	Saccharomyces cerevisiae S288C
DOID:0111042	glycogen storage disease IXa Aliases: GSD type 9A GSD type IXa GSD9A glycogen storage disease type 9A glycogen storage disease type IXa glycogenosis type 9A glycogenosis type IXa	CG7766	31839	Drosophila melanogaster (fruit fly)
DOID:0050814	temtamy preaxial brachydactyly syndrome Aliases: PREAXIAL BRACHYDACTYLY SYNDROME, TEMTAMY TYPE	chsy1	324407	Danio rerio (zebrafish)
DOID:106	pleural tuberculosis Aliases: Pearly disease Tuberculosis of pleura Tuberculous pleurisy Tuberculous pleuritis tuberculous pleurisy in primary progressive tuberculosis	Tlr4	21898	Mus musculus (house mouse)
DOID:4948	gallbladder carcinoma Aliases: cancer of the gallbladder carcinoma gallbladder carcinoma of gallbladder	gbgt1l2 gbgt1l3 gbgt1l4 gbgt1l5 gbgt1l8 gbgt1l9	100005565 100005704 387303 447881 563897 566487	Danio rerio (zebrafish)
DOID:10772	thrombotic thrombocytopenic purpura Aliases: Moschcowitz's syndrome	ABO ACSS2 CD248 CD55 CLEC1B DGKE GPI PIGA PIK3CB PLA2G15 PTGS2	1604 23659 28 2821 51266 5277 5291 55902 57124 5743 8526	Homo sapiens (human)
DOID:743	dermatographia Aliases: dermatographic urticaria dermographism	PIGT	51604	Homo sapiens (human)
DOID:12297	Vogt-Koyanagi-Harada disease Aliases: Harada's disease Vogt-Koyanagi syndrome uveomeningoencephalitic syndrome	Tnf	21926	Mus musculus (house mouse)
DOID:1184	nephrotic syndrome	Coq2 Ppargc1a	498332 83516	Rattus norvegicus (Norway rat)
DOID:0111313	idiopathic generalized epilepsy 12 Aliases: EIG12	SLC2A1	6513	Homo sapiens (human)
DOID:0110533	autosomal recessive nonsyndromic deafness 88 Aliases: DFNB88 autosomal recessive deafness 88	ACO2 ACOX1 ARSA CD109 CHSY1 COG4 LRTOMT OTOA OTOG PSAP TECTA	135228 146183 220074 22856 25839 340990 410 50 51 5660 7007	Homo sapiens (human)
DOID:0111411	exudative vitreoretinopathy 4 Aliases: EVR4	Lrp5	16973	Mus musculus (house mouse)
DOID:10652	Alzheimer's disease Aliases: Alzheimer disease Alzheimers dementia	enol-1 gpd-1 gpd-3 gpd-4 gsto-1 parp-1	174423 174578 174603 180601 183000 266823	Caenorhabditis elegans
DOID:4838	myoepithelial carcinoma	SMUG1	23583	Homo sapiens (human)
DOID:14735	hereditary angioedema Aliases: HANE Hereditary angioneurotic edema	si	797517	Danio rerio (zebrafish)
DOID:0080569	congenital disorder of glycosylation Ir Aliases: congenital disorder of glycosylation 1r	WBP1	856716	Saccharomyces cerevisiae S288C
DOID:0070123	congenital nongoitrous hypothyroidism 4 Aliases: CHNG4 isolated thyrotropin deficiency	ACE ACHE ASAH1 B3GLCT EFNA5 ENO2 G6PD HJV	145173 148738 1636 1946 2026 2539 427 43	Homo sapiens (human)
DOID:5746	ovarian serous cystadenocarcinoma Aliases: serous cystadenoma	PIK3CA PIK3CB PIK3CD PIK3CG	5290 5291 5293 5294	Homo sapiens (human)
DOID:916	liver benign neoplasm Aliases: epithelial hepatic and intrahepatic bile duct neoplasm	aldo-1	176788	Caenorhabditis elegans

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