GlyCosmos Portal

Source	Last Updated
Alliance of Genome Resources	July 29, 2024
DisGeNET	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **2201 - 2225** of **4621** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism
DOID:14753	isovaleric acidemia Aliases: Isovaleryl-CoA dehydrogenase deficiency isovaleric acid CoA dehydrogenase deficiency isovaleric aciduria	PIK3CA PLA2G1B PLB1 PTGES PTGS1 PTGS2	151056 5290 5319 5742 5743 9536	Homo sapiens (human)
DOID:2367	neuroaxonal dystrophy	NAGA PLA2G1B PLA2G4A PLA2G6 PLB1	151056 4668 5319 5321 8398	Homo sapiens (human)
DOID:0110735	neurodegeneration with brain iron accumulation 2a Aliases: INAD1 Infantile Neuroaxonal Dystrophy 1 NBIA2a Neurodegeneration, Pla2g6-Associated Seitelberger Disease	AKR1B10 NAGA PLA2G1B PLA2G4A PLA2G6 PLB1	151056 4668 5319 5321 57016 8398	Homo sapiens (human)
DOID:0050879	fragile X-associated tremor/ataxia syndrome Aliases: FXTAS syndrome	IGF2R PLA2G2A PLB1	151056 3482 5320	Homo sapiens (human)
DOID:0050955	spinocerebellar ataxia type 2	CAT ELOVL5 HPGDS PLB1 SDHC	151056 27306 60481 6391 847	Homo sapiens (human)
DOID:0110734	neurodegeneration with brain iron accumulation Aliases: NBIA	AKR1B10 GLB1 NDUFAB1 PLA2G1B PLA2G4A PLA2G6 PLB1 PRPS1 SGSH	151056 2720 4706 5319 5321 5631 57016 6448 8398	Homo sapiens (human)
DOID:0060188	jejunoileitis	FUT2 LYZ PLA2G1B PLA2G2A PLA2G6 PLB1	151056 2524 4069 5319 5320 8398	Homo sapiens (human)
DOID:0060191	gastroduodenal Crohn's disease Aliases: upper GI Crohn's disease	FUT2 LYZ PLA2G1B PLA2G2A PLA2G6 PLB1	151056 2524 4069 5319 5320 8398	Homo sapiens (human)
DOID:2565	macular corneal dystrophy Aliases: Fehr corneal dystrophy MACULAR DYSTROPHY, CORNEAL, 1	CAT CHST6 LCAT MLYCD PLB1 SLC35A2	151056 23417 3931 4166 7355 847	Homo sapiens (human)
DOID:12704	ataxia telangiectasia Aliases: Boder-Sedgwick syndrome Louis Bar syndrome	ACACA ACAT1 ALOX5 ARSA CAT CD38 ENPP2 G6PD GAA HPRT1 KLRK1 LTC4S NCAM1 PARP10 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G4A PLB1 PTGS1 SOAT1 TBXAS1 TM7SF2 XYLT2	151056 22914 240 2539 2548 31 3251 38 4056 410 4684 5168 5290 5291 5293 5294 5321 5742 64132 6646 6916 7108 847 84875 952	Homo sapiens (human)
DOID:0110739	neurodegeneration with brain iron accumulation 5 Aliases: BPAN Beta-Propeller Protein-Associated Neurodegeneration NBIA5 SENDA Static Encephalopathy Of Childhood With Neurodegeneration In Adulthood	AKR1B10 ENO2 PLA2G1B PLA2G6 PLB1	151056 2026 5319 57016 8398	Homo sapiens (human)
DOID:0080356	IgG4-related disease	ENO1 PLB1 SDC1 SMUG1	151056 2023 23583 6382	Homo sapiens (human)
DOID:679	basal ganglia disease	DLAT GAD1 GAD2 GCDH GLDC GLUL HPRT1 MMUT PDHA1 PIGN PIGP PIGQ PLA2G1B PLA2G2A PLA2G6 PLB1 ST8SIA3	151056 1737 23556 2571 2572 2639 2731 2752 3251 4594 51046 51227 5160 5319 5320 8398 9091	Homo sapiens (human)
DOID:13767	clonorchiasis Aliases: Oriental liver fluke disease	CYP3A5 FCER2 PLA2G4A PLB1	151056 1577 2208 5321	Homo sapiens (human)
DOID:480	movement disease	ACHE ACO2 ALDH5A1 ALDH7A1 CYB5R3 CYP1A2 CYP21A2 DHCR7 FOLR2 G6PD GBA1 GCDH GLUL HEXA HPRT1 MAN2B1 NGLY1 NTNG1 OGDH PAFAH1B1 PDHA1 PGAP3 PIGN PLB1 PMM2 PPT1 PRNP PSAP PTEN SGSH SLC26A2 SLC2A3 SUCLA2	151056 1544 1589 1717 1727 1836 22854 2350 23556 2539 2629 2639 2752 3073 3251 4125 43 4967 50 501 5048 5160 5373 5538 55768 5621 5660 5728 6448 6515 7915 8803 93210	Homo sapiens (human)
DOID:3901	vulvitis	ABO CTNS GALNS GLA LYZ MBL2	1497 2588 2717 28 4069 4153	Homo sapiens (human)
DOID:3385	bacterial vaginosis	ABO CTNS GALNS GLA LYZ MBL2	1497 2588 2717 28 4069 4153	Homo sapiens (human)
DOID:2170	vaginitis	ABO CTNS GALNS GLA LYZ MBL2	1497 2588 2717 28 4069 4153	Homo sapiens (human)
DOID:5684	spondyloepimetaphyseal dysplasia, Sponastrime type Aliases: Spondylar and nasal Alterations-Striated Metaphyses syndrome sponastrime dysplasia	CTNS CYP51A1 EHHADH GPX3 IGF2R NAGLU OCRL SLC2A2 VNN1 VNN2	1497 1595 1962 2878 3482 4669 4952 6514 8875 8876	Homo sapiens (human)
DOID:4500	hypokalemia Aliases: hypopotassemia potassium deficiency disorder	AKR1B1 CTNS CYP11B1 CYP11B2 CYP17A1 HSD11B2 OCRL SLC2A2	1497 1584 1585 1586 231 3291 4952 6514	Homo sapiens (human)
DOID:2273	vulvovaginitis Aliases: Vulvo-vaginitis	ABO CTNS GALNS GLA LYZ MBL2 PLB1 PSAP	1497 151056 2588 2717 28 4069 4153 5660	Homo sapiens (human)
DOID:0111230	congenital muscular dystrophy-dystroglycanopathy type A11 Aliases: MDDGA11 Walker-Warburg syndrome or muscle-eye-brain disease B3GALNT2-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A11	B3GALNT2	148789	Homo sapiens (human)
DOID:0111027	hemochromatosis type 2A Aliases: HFE2A	HJV RGMA RGMB	148738 285704 56963	Homo sapiens (human)
DOID:0111034	hemochromatosis type 2 Aliases: HFE2 JHH juvenile hemochromatosis	HJV RGMA RGMB	148738 285704 56963	Homo sapiens (human)
DOID:0111029	hemochromatosis type 1 Aliases: HFE1 symptomatic form of HFE-related hereditary hemochromatosis symptomatic form of classic hemochromatosis symptomatic form of hemochromatosis type 1	ACO1 AKR1B1 AKR1D1 ALDH2 CALR CD14 FADS2 FUT1 FUT2 GNPAT GPC1 GPC3 GPC5 HJV HPGDS ICAM1 LGALS3 PIK3CA PIK3CB PIK3CD PIK3CG PNPLA3 SELE SELL STS SULT1E1 TUSC3 UGT1A1 VCAM1	148738 217 2262 231 2523 2524 2719 27306 2817 3383 3958 412 48 5290 5291 5293 5294 54658 6401 6402 6718 6783 7412 7991 80339 811 8443 929 9415	Homo sapiens (human)

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