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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 **7601 - 7625** of **7942** in total

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Disease ID ▼	Disease Name	Gene Symbol	Gene ID	Organism
DOID:0050731	vitamin B12 deficiency Aliases: cobalamin deficiency hypocobalaminemia	fut2.L fut2.S	108696739 108697990	Xenopus laevis (African clawed frog)
DOID:0050731	vitamin B12 deficiency Aliases: cobalamin deficiency hypocobalaminemia	Fut2 Sec1	308586 58924	Rattus norvegicus (Norway rat)
DOID:0050731	vitamin B12 deficiency Aliases: cobalamin deficiency hypocobalaminemia	Calr	41166	Drosophila melanogaster (fruit fly)
DOID:0050731	vitamin B12 deficiency Aliases: cobalamin deficiency hypocobalaminemia	CALR FUT2 GPX3	2524 2878 811	Homo sapiens (human)
DOID:0050731	vitamin B12 deficiency Aliases: cobalamin deficiency hypocobalaminemia	fut1 fut2	100493351 447958	Xenopus tropicalis (tropical clawed frog)
DOID:0050731	vitamin B12 deficiency Aliases: cobalamin deficiency hypocobalaminemia	Fut2 Sec1	14344 56546	Mus musculus (house mouse)
DOID:0050730	coenzyme Q10 deficiency disease Aliases: COENZYME Q10 DEFICIENCY, PRIMARY	COQ2	27235	Homo sapiens (human)
DOID:0050730	coenzyme Q10 deficiency disease Aliases: COENZYME Q10 DEFICIENCY, PRIMARY	Coq2	71883	Mus musculus (house mouse)
DOID:0050730	coenzyme Q10 deficiency disease Aliases: COENZYME Q10 DEFICIENCY, PRIMARY	Coq2	498332	Rattus norvegicus (Norway rat)
DOID:0050729	Chanarin-Dorfman syndrome Aliases: neutral lipid storage disease	AGK CPT2 DGAT1 LPIN2 PEMT PNPLA2 PNPLA3	10400 1376 55750 57104 80339 8694 9663	Homo sapiens (human)
DOID:0050726	tyrosinemia type I Aliases: hepatorenal tyrosinemia	ACAT1 IDUA OGG1	3425 38 4968	Homo sapiens (human)
DOID:0050719	cerebral folate receptor alpha deficiency Aliases: Neurodegeneration due to cerebral folate transport deficiency	FOLR1 FOLR2	2348 2350	Homo sapiens (human)
DOID:0050709	early infantile epileptic encephalopathy Aliases: Early Infantile Epileptic Encephalopathy with Burst-Suppression	ALDH7A1 AMT CYP2C19 GAPDH GPC3 HK2 IDH3A IDH3B IDH3G PIGA PIGP PIGQ PIK3CA PIK3CB PIK3CD PIK3CG PLCB1 PRKAA2 SMUG1 ST3GAL3 SYNJ1	1557 23236 23583 2597 2719 275 3099 3419 3420 3421 501 51227 5277 5290 5291 5293 5294 5563 6487 8867 9091	Homo sapiens (human)
DOID:0050709	early infantile epileptic encephalopathy Aliases: Early Infantile Epileptic Encephalopathy with Burst-Suppression	IDH1 IDH2	854303 855691	Saccharomyces cerevisiae S288C
DOID:0050700	cardiomyopathy Aliases: Cardiomyopathies	Adipoq Asah2 Braf Got1 Pomt1 Tnf	109880 11450 14718 21926 54447 99011	Mus musculus (house mouse)
DOID:0050700	cardiomyopathy Aliases: Cardiomyopathies	pomt1	569769	Danio rerio (zebrafish)
DOID:0050700	cardiomyopathy Aliases: Cardiomyopathies	pomt1	448433	Xenopus tropicalis (tropical clawed frog)
DOID:0050700	cardiomyopathy Aliases: Cardiomyopathies	rt	39297	Drosophila melanogaster (fruit fly)
DOID:0050700	cardiomyopathy Aliases: Cardiomyopathies	ABO ACACA ACADL ACADS ACADVL ACE ACSL1 ADIPOQ ADPRH AGK AGL AGPAT2 ALDH2 ALG1 APRT ARSB ARSD ASAH2 ATP6V1A ATRN BRAF CALR3 CALR CAT CBR1 CBR3 CHST3 CNTN3 COG7 CPT1A CPT2 CS CYP11B2 CYP1A1 CYP27B1 CYP2C19 CYP2C9 CYP2E1 DAG1 DCN DGAT1 DLD DPM3 ECHS1 FASN FIG4 FKRP FKTN FUT4 G6PD GAA GAPDH GBE1 GLA GLB1 GMPPB GNE GNPTAB GOT1 GPC3 GPX3 GUSB GYG1 GYS1 HADH HADHA HADHB HAS3 HJV HPGDS HPSE ICAM1 IDH2 IDUA IGF2R IL1RL1 KL LDHA LGALS3 LPL MASP2 MBL2 MCAT MGAM MGAT1 MLYCD MMUT MTMR14 NAGA NAMPT NCAM1 NEU1 OLR1 PARP1 PCCA PCCB PDHA1 PGK1 PGM1 PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PIKFYVE PKD1 PLA2G7 PMM2 PNPLA2 POMGNT1 POMK POMT1 PRKAA2 PTEN PTGS2 SCD5 SCD SDHA SDHB SDHD SGSH SI SIRT4 SLC2A10 SLC33A1 SLC5A1 SMUG1 SORD SPHK1 SPHK2 ST3GAL4 SUCLG1 SULT1E1 TNF TPI1	10020 10135 10555 10585 10747 10855 125972 1374 1376 141 142 1431 148738 1543 1557 1559 1571 1585 1594 1605 1634 1636 1738 178 1892 200576 217 2180 2194 2218 23409 23417 23583 2526 2539 2548 2597 2632 2717 2719 2720 27306 27349 28 2805 2878 2990 2992 29925 2997 3030 3032 3033 3038 31 33 3383 3418 3425 3482 35 353 37 3939 3958 4023 411 414 4153 4245 4594 4668 4684 4758 4973 5067 5095 5096 5160 523 5230 5236 5289 5290 5291 5293 5294 5310 5373 54344 55624 5563 55750 56052 56624 56848 57104 5728 5743 6319 6389 6390 6392 64419 6448 6476 6484 6523 6652 673 6783 7124 7167 79147 79158 7941 79966 81031 811 84197 8455 847 8694 873 874 8802 8877 8972 9173 91949 9197 9365 9370 9469 9896	Homo sapiens (human)
DOID:0050700	cardiomyopathy Aliases: Cardiomyopathies	Asah2 Got1 Pomt1 Tnf	114104 24401 24835 84430	Rattus norvegicus (Norway rat)
DOID:0050700	cardiomyopathy Aliases: Cardiomyopathies	PMT4	853608	Saccharomyces cerevisiae S288C
DOID:0050700	cardiomyopathy Aliases: Cardiomyopathies	pomt1.S	108699937	Xenopus laevis (African clawed frog)
DOID:0050699	Dent disease Aliases: Dent disease 1 Dent disease 2 Dent's disease	CLC EXT2 INPP5B NAGLU OCRL	1178 2132 3633 4669 4952	Homo sapiens (human)
DOID:0050697	chorioamnionitis	ACAN CBR1 CD14 CYP1A1 IL1RL1 LGALS3 MBL2 PGP PTGS1 PTGS2 RECK STS TNF	1543 176 283871 3958 412 4153 5742 5743 7124 8434 873 9173 929	Homo sapiens (human)
DOID:0050697	chorioamnionitis	Tnf	24835	Rattus norvegicus (Norway rat)

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