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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 **7251 - 7275** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism
DOID:1627	intraductal papilloma Aliases: ductal papilloma	CD44 PIK3CA	5290 960	Homo sapiens (human)
DOID:0050905	inflammatory myofibroblastic tumor	ACE AMACR IL1R1 PIK3CA PTGS2 SMUG1	1636 23583 23600 3554 5290 5743	Homo sapiens (human)
DOID:1712	aortic valve stenosis Aliases: Aortic stenosis Rheumatic aortic stenosis rheumatic aortic valve stenosis	ogt	553157	Xenopus tropicalis (tropical clawed frog)
DOID:0060490	Schimke immuno-osseous dysplasia Aliases: Schimke immunoosseous dysplasia Schimke syndrome immunoosseous dysplasia Schimke type spondyloepiphyseal dysplasia - nephrotic syndrome	AKR1B10 CHPT1 GM2A HEXB	2760 3074 56994 57016	Homo sapiens (human)
DOID:8593	chronic monocytic leukemia	ACHE AKR1B1 CD14 CD33 CD38 CDH13 CEACAM5 CYP3A5 DLD EBP ETNK1 FCER2 FCGR3B FUT4 G6PD HPGDS ICAM1 IDH1 IDH2 IL18R1 KLRK1 LARGE1 LYZ MACROD1 MOGS NCAM1 PAFAH1B1 PARP1 PCYT1A PIK3C2A PIK3CA PIK3CB PIK3CD PIK3CG PPP1R3A PTEN PTGS2 SIGLEC7 SMC3 SOAT1 VCAM1 XYLT2	1012 1048 10682 142 1577 1738 2208 2215 22914 231 2526 2539 27036 27306 28992 3383 3417 3418 4069 43 4684 5048 5130 5286 5290 5291 5293 5294 5506 55500 5728 5743 64132 6646 7412 7841 8809 9126 9215 929 945 952	Homo sapiens (human)
DOID:0080071	mucolipidosis III alpha/beta Aliases: mucolipidosis III pseudo-Hurler polydystrophy	gnptab	553365	Danio rerio (zebrafish)
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:11832	visual epilepsy Aliases: epilepsy, visual	Bad Eno2 Il6st Kcnj11 Npy1r Tnf	12015 13807 16195 16514 18166 21926	Mus musculus (house mouse)
DOID:1849	cannabis dependence	ACE ADH1C CBR1 CD38 CHAT COMT CYP1A2 CYP2B6 CYP2C9 FCGR3B FDFT1 GLUL HPRT1 MGLL NCAM1 PPT1 PTGS2 SULT1E1 XYLT2	1103 11343 126 1312 1544 1555 1559 1636 2215 2222 2752 3251 4684 5538 5743 64132 6783 873 952	Homo sapiens (human)
DOID:219	colon cancer	hs3st2	571246	Danio rerio (zebrafish)
DOID:0080187	chronic neutrophilic leukemia	CALR CEL SOAT1	1056 6646 811	Homo sapiens (human)
DOID:0080576	spondyloepimetaphyseal dysplasia, Genevieve-type	NANS	41528	Drosophila melanogaster (fruit fly)
DOID:9974	drug dependence	COMT CYP2B6 NCAM1	1312 1555 4684	Homo sapiens (human)
DOID:0111077	pyruvate kinase deficiency of red cells Aliases: PK deficiency hemolytic anemia due to red cell pyruvate kinase deficiency pyruvate kinase deficiency of erythrocyte	PyK	42620	Drosophila melanogaster (fruit fly)
DOID:0110170	Charcot-Marie-Tooth disease axonal type 2Q Aliases: CMT2Q Charcot-Marie-Tooth neuropathy type 2Q autosomal dominant Charcot-Marie-Tooth disease type 2Q autosomal dominant axonal Charcot-Marie-Tooth disease type 2Q	Dhtkd1	209692	Mus musculus (house mouse)
DOID:14067	Plasmodium falciparum malaria Aliases: Malaria fever, subtertian falciparum malaria malignant tertian fever	Abo G6pd2 G6pdx Tnf	14380 14381 21926 80908	Mus musculus (house mouse)
DOID:0080664	diaphyseal medullary stenosis with malignant fibrous histiocytoma Aliases: Hardcastle syndrome bone dysplasia-medullary fibrosarcoma syndrome diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome	MEU1	850704	Saccharomyces cerevisiae S288C
DOID:0070115	Meckel syndrome 1 Aliases: MKS1 Meckel-Gruber syndrome, type 1	ALDH1A3 ALG8 ALG9 ARF4 INPP5E PKD1 PKD2 PTGDS UMOD	220 378 5310 5311 56623 5730 7369 79053 79796	Homo sapiens (human)
DOID:0080505	Cornelia de Lange syndrome 1	ARSD GALNT14 SMC3 TNKS	414 79623 8658 9126	Homo sapiens (human)
DOID:13948	bladder neck obstruction Aliases: Obstruction of bladder neck or vesicourethral orifice	CYP19A1 DCN HTR2A PTEN PTGS2	1588 1634 3356 5728 5743	Homo sapiens (human)
DOID:11247	disseminated intravascular coagulation Aliases: DIC Defibrination syndrome Diffuse or disseminated intravascular coagulation	ANXA5 CD14 COLEC11 MASP1 MBL2 NCAM1 PC PLD1 SDC1 SELL SLC17A5 TNF	26503 308 4153 4684 5091 5337 5648 6382 6402 7124 78989 929	Homo sapiens (human)
DOID:2231	factor XII deficiency Aliases: Factor XII deficiency disease Hageman Factor deficiency deficiency, Hageman	MGAT2 PGAP1	4247 80055	Homo sapiens (human)
DOID:0110446	dilated cardiomyopathy 1W Aliases: CMD1W	ACADVL ACE BDH1 CHKB CPT2 DAG1 DOLK FASN FKRP FKTN GLB1 GPX1 HACD1 HADH HADHA HADHB HJV HMGCL HPRT1 LDHA LGALS3 LPL MDH1 MICA MTM1 NAMPT NCAM1 NDUFAB1 PCYT1A PGM1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G7 POMT2 RENBP SDHA SDHD SLC2A10 SLC2A4	100507436 10135 1120 1376 148738 1605 1636 2194 2218 22845 2720 2876 29954 3030 3032 3033 3155 3251 37 3939 3958 4023 4190 4534 4684 4706 5130 5236 5290 5291 5293 5294 5973 622 6389 6392 6517 79147 7941 81031 9200	Homo sapiens (human)
DOID:0110212	Charcot-Marie-Tooth disease X-linked recessive 4 Aliases: CMT4X CMTX4 Charcot-Marie-Tooth disease with deafness and mental retardation Cowchock syndrome NADMR NAMSD X-linked Charcot-Marie-Tooth disease type 4 axonal motor sensory neuropathy with deafness and mental retardation	ACE AMACR ARSA CANX CAT CD44 CYP4F3 DGAT2 FIG4 GBA1 GPX2 HADHB HK1 HPSE LCAT LPIN1 MAG MTM1 MTMR2 PGK1 PGM1 PLCB4 PLCE1 PRNP PRPS1 PTGS2 SIGLEC7 SPTLC1 SPTLC2	10558 10855 1636 23175 23600 2629 27036 2877 3032 3098 3931 4051 4099 410 4534 51196 5230 5236 5332 5621 5631 5743 821 84649 847 8898 9517 960 9896	Homo sapiens (human)
DOID:9296	cleft lip Aliases: Labium leporinum cheiloschisis cleft lip, unilateral, complete complete unilateral cleft lip hare lip	pomt1.S	108699937	Xenopus laevis (African clawed frog)

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