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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB) and Alliance of Genome Resources is integrated into one list.

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

Displaying entries **3051 - 3075** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism
DOID:589	congenital hemolytic anemia Aliases: congenital hemolytic anaemia hereditary hemolytic anaemia hereditary hemolytic anemia	Gpi1	14751	Mus musculus (house mouse)
DOID:440	neuromuscular disease	Gpi1	14751	Mus musculus (house mouse)
DOID:13938	amenorrhea Aliases: absence of menstruation amenia	CYP17A1 CYP19A1 HJV	148738 1586 1588	Homo sapiens (human)
DOID:2352	hemochromatosis Aliases: Haemochromatosis diabetes bronze iron storage disorder	ACACA ACE ACO1 AKR1B1 AKR1D1 ALDH2 ALPP ANXA5 ARSA ATRNL1 CALR CAT CCDC115 CD14 CYP27B1 FADS2 FUT1 FUT2 G6PD GALNS GLUL GNPAT GPC1 GPC3 GPC5 GPX1 HJV HPGDS ICAM1 IL1R1 LGALS3 NDUFAB1 PIK3CA PIK3CB PIK3CD PIK3CG PNPLA3 PRNP RGMA RGMB SELE SELL SLC17A5 SLC39A8 SMPD1 STS SULT1E1 TNF TUSC3 UGT1A1 VCAM1	148738 1594 1636 217 2262 231 250 2523 2524 2539 2588 26033 26503 2719 27306 2752 2817 285704 2876 308 31 3383 3554 3958 410 412 4706 48 5290 5291 5293 5294 54658 5621 56963 6401 6402 64116 6609 6718 6783 7124 7412 7991 80339 811 84317 8443 847 929 9415	Homo sapiens (human)
DOID:2351	iron metabolism disease Aliases: disorder of iron metabolism iron disorder	ACACA ACE ACO1 AKR1D1 ALPP ANXA5 ARSA ATRNL1 CALR CAT CCDC115 CYP27B1 G6PD GALNS GLUL GNPAT GPX1 HJV IL1R1 NDUFAB1 PNPLA3 PRNP SLC17A5 SLC39A8 SMPD1 VCAM1	148738 1594 1636 250 2539 2588 26033 26503 2752 2876 308 31 3554 410 4706 48 5621 64116 6609 6718 7412 80339 811 84317 8443 847	Homo sapiens (human)
DOID:893	Wilson disease Aliases: Cerebral pseudosclerosis Westphal pseudosclerosis Westphal-Strumpell syndrome Wilson's disease hepatolenticular degeneration	ACACA ACE ACO1 AKR1D1 ALPP ANXA5 ARSA ATRNL1 CALR CAT CCDC115 CYP27B1 G6PD GALNS GLUL GNPAT GPX1 HJV IL1R1 NDUFAB1 PNPLA3 PRNP SLC17A5 SLC39A8 SMPD1 VCAM1	148738 1594 1636 250 2539 2588 26033 26503 2752 2876 308 31 3554 410 4706 48 5621 64116 6609 6718 7412 80339 811 84317 8443 847	Homo sapiens (human)
DOID:11252	microcytic anemia	ACO1 BDH2 CACNA2D3 CAT CD55 HJV IDUA LALBA LPIN2 PLA2G4A PLA2G6 SMPD1 SRD5A3	148738 1604 3425 3906 48 5321 55799 56898 6609 79644 8398 847 9663	Homo sapiens (human)
DOID:0070122	Meckel syndrome 8 Aliases: MKS8 Meckel-Gruber syndrome, type 8	ACE ALG8 ALG9 ARF4 HJV PKD1 PKD2 UMOD	148738 1636 378 5310 5311 7369 79053 79796	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)
DOID:0111034	hemochromatosis type 2 Aliases: HFE2 JHH juvenile hemochromatosis	HJV RGMA RGMB	148738 285704 56963	Homo sapiens (human)
DOID:0111027	hemochromatosis type 2A Aliases: HFE2A	HJV RGMA RGMB	148738 285704 56963	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:13810	familial hypercholesterolemia Aliases: Fredrickson type IIa hyperlipoproteinemia Fredrickson type IIa lipidaemia familial hyperbetalipoproteinaemia familial hypercholesteremia hyperbetalipoproteinemia type II hyperlipidemia	Gk Rbp4	14933 19662	Mus musculus (house mouse)
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: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: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:2170	vaginitis	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:3901	vulvitis	ABO CTNS GALNS GLA LYZ MBL2	1497 2588 2717 28 4069 4153	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:13767	clonorchiasis Aliases: Oriental liver fluke disease	CYP3A5 FCER2 PLA2G4A PLB1	151056 1577 2208 5321	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:0080356	IgG4-related disease	ENO1 PLB1 SDC1 SMUG1	151056 2023 23583 6382	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: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)

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