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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 **6826 - 6850** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism
DOID:0111187	distal myopathy with anterior tibial onset Aliases: DMAT distal muscular dystrophy with anterior tibial onset	Dysf	26903	Mus musculus (house mouse)
DOID:4233	clear cell sarcoma Aliases: Clear cell sarcoma of soft Parts adult soft part clear cell sarcoma malignant melanoma of soft tissues melanoma, malignant, of soft parts	MRC1 PTEN	4360 5728	Homo sapiens (human)
DOID:0050450	Gitelman syndrome Aliases: HYPOMAGNESEMIA-HYPOKALEMIA, PRIMARY RENOTUBULAR, WITH HYPOCALCIURIA	PTGS2	5743	Homo sapiens (human)
DOID:2050	acute maxillary sinusitis Aliases: acute antritis	NT5E	4907	Homo sapiens (human)
DOID:9870	galactosemia Aliases: Galactosaemia Galactose intolerance	ZK1058.3 gale-1	173171 175506	Caenorhabditis elegans
DOID:9286	priapism Aliases: Mentulagra	G6PD GLA KL PTDSS1	2539 2717 9365 9791	Homo sapiens (human)
DOID:3324	mood disorder Aliases: episodic mood disorder	ABAT ABO ACE CAT CD44 COMT CRYL1 CYP19A1 DGKG DGKH GAD1 GAD2 GLO1 GLUL HPGDS HSD11B2 IMPA2 KL LDHA NCAM1 PAFAH1B1 PDIA3 PFKFB3 PFKL PGD PGM1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G4A PLB1 PLCB1 PLCB4 PNPLA3 PRNP PTGS1 PTGS2 SIRT2 SOAT1 ST8SIA2 STS TM7SF2	1312 151056 1588 1608 160851 1636 18 22933 23236 2571 2572 27306 2739 2752 28 2923 3291 3613 3939 412 4684 5048 51084 5209 5211 5226 5236 5290 5291 5293 5294 5321 5332 5621 5742 5743 6646 7108 80339 8128 847 9365 960	Homo sapiens (human)
DOID:0080678	mucolipidosis III gamma	Gnptg	214505	Mus musculus (house mouse)
DOID:0060050	autoimmune disease of blood	C1galt1	94192	Mus musculus (house mouse)
DOID:0110676	congenital myasthenic syndrome 13 Aliases: CMS13 CMSTA2 congenital myasthenic syndrome 13 with tubular aggregates congenital myasthenic syndrome with tubular aggregates 2	dpagt1	566539	Danio rerio (zebrafish)
DOID:10591	pre-eclampsia Aliases: gestational hypertension hypertension induced by pregnancy pre-eclamptic toxaemia preeclampsia preeclampsia/eclampsia pregnancy associated hypertension pregnancy toxemia proteinuric hypertension of pregnancy toxaemia of pregnancy	Idgf1 Idgf2 Idgf3 Idgf4 Idgf5 Idgf6 N Ogg1 Tl	31293 31806 31926 34978 34979 34981 36868 37104 43222	Drosophila melanogaster (fruit fly)
DOID:599	specific phobia Aliases: simple phobia	CAT DDOST	1650 847	Homo sapiens (human)
DOID:0050579	glycogen storage disease XV Aliases: Glycogen storage disease 15 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency glycogen storage disease type XV	gyg1a gyg1b	406831 415152	Danio rerio (zebrafish)
DOID:0081376	obsolete sorbitol dehydrogenase deficiency with peripheral neuropathy	SOR1 SOR2 XYL2	850759 851351 853624	Saccharomyces cerevisiae S288C
DOID:10603	glucose intolerance Aliases: Glucose malabsorption Malabsorption of glucose	ABO ACE ACOT7 ADH1C ALDH2 AMY2A APRT CAT CBR1 CD14 CERS6 CHI3L1 CLEC16A COMT COQ2 CYB5R4 CYP19A1 CYP1B1 DCN DDOST DGAT1 ENPP1 FCGR3B G6PC1 G6PC2 G6PD GAD1 GAD2 GBA1 GCK GGT1 HK2 HSD11B1 HSD11B2 ICAM1 IL1R1 INPPL1 L1CAM LEP LEPR LGALS3 LIPC LPIN1 LPL MBL2 MOGAT2 NAMPT NEIL1 NEU1 OGA OLR1 PGP PIK3CA PIK3CB PIK3CD PIK3CG PKM PLB1 PLCB1 PNPLA2 PNPLA3 PPP1R3A PRKAA2 PTGES2 RTN4R SCD SGPL1 SI SIRT2 SIRT6 SLC17A5 SLC2A2 SLC2A3 SLC2A4 SLC35A1 SLC5A1 SOAT1 SRGN UMOD VCAM1	10135 10559 10724 1116 11332 126 1312 151056 1545 1588 1634 1636 1650 217 2215 22933 23175 23236 23274 253782 2538 2539 2571 2572 2629 2645 26503 2678 27235 279 28 283871 3099 3290 3291 3383 353 3554 3636 3897 3952 3953 3958 3990 4023 4153 4758 4973 51167 51548 5167 5290 5291 5293 5294 5315 5506 5552 5563 57104 57818 6319 6476 65078 6514 6515 6517 6523 6646 7369 7412 79661 80142 80168 80339 847 8694 873 8879 929	Homo sapiens (human)
DOID:0110174	Charcot-Marie-Tooth disease axonal type 2L Aliases: CMT2L Charcot-Marie-Tooth neuropathy axonal type 2L autosomal dominant Charcot-Marie-Tooth disease type 2L autosomal dominant axonal Charcot-Marie-Tooth disease type 2L	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:0080070	mucolipidosis II alpha/beta Aliases: I-cell disease inclusion-cell disease mucolipidosis II	APRT CALR DPAGT1 GNPTAB GNPTG GUSB IDUA IGF2R NAGPA OGA PLCD1 PLCG1	10724 1798 2990 3425 3482 353 51172 5333 5335 79158 811 84572	Homo sapiens (human)
DOID:2216	factor V deficiency Aliases: Hereditary hypoproaccelerinaemia Labile factor deficiency Proaccelerin deficiency deficiency, labile	LMAN1 MCFD2 NGLY1 PC	3998 5091 55768 90411	Homo sapiens (human)
DOID:0110219	Brugada syndrome 2 Aliases: BRGDA2	gpd1l.L	379962	Xenopus laevis (African clawed frog)
DOID:1025	tuberculoid leprosy Aliases: Smooth leprosy type T leprosy	ICAM1 ICAM2 VCAM1	3383 3384 7412	Homo sapiens (human)
DOID:8781	rubella Aliases: german measles	ABO CANX FCN2 HPGDS IL18R1 MRC1	2220 27306 28 4360 821 8809	Homo sapiens (human)
DOID:1876	sexual dysfunction	ACE ALDH7A1 CYP19A1 CYP2B6 MDGA2 PGP	1555 1588 161357 1636 283871 501	Homo sapiens (human)
DOID:0080576	spondyloepimetaphyseal dysplasia, Genevieve-type	NANS	54187	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:678	progressive supranuclear palsy Aliases: Steele-Richardson-Olszewski syndrome progressive supranuclear ophthalmoplegia	Ogg1	31806	Drosophila melanogaster (fruit fly)

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