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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 **4876 - 4900** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism
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: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: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)
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: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: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: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: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:13938	amenorrhea Aliases: absence of menstruation amenia	CYP17A1 CYP19A1 HJV	148738 1586 1588	Homo sapiens (human)
DOID:440	neuromuscular disease	Gpi1	14751	Mus musculus (house mouse)
DOID:589	congenital hemolytic anemia Aliases: congenital hemolytic anaemia hereditary hemolytic anaemia hereditary hemolytic anemia	Gpi1	14751	Mus musculus (house mouse)
DOID:1059	intellectual disability	Gpi1 Ndst1 Ndst2 Ndst3 Ndst4	14751 15531 17423 64580 83398	Mus musculus (house mouse)
DOID:9952	acute lymphoblastic leukemia Aliases: ALL acute lymphoblastic leukaemia acute lymphocytic leukaemia precursor lymphoblastic lymphoma/leukemia	Abo Gpi1 Hk1 Myc	14751 15275 17869 80908	Mus musculus (house mouse)
DOID:3498	pancreatic ductal adenocarcinoma Aliases: ductal adenocarcinoma of the pancreas	Got1	14718	Mus musculus (house mouse)
DOID:332	amyotrophic lateral sclerosis Aliases: ALS Lou Gehrig's disease motor neuron disease, bulbar	Got1 Gsk3a Gsk3b Hmgb1 Pgf Ppargc1a Sarm1	14718 15289 18654 19017 237868 56637 606496	Mus musculus (house mouse)
DOID:0111037	glycine N-methyltransferase deficiency Aliases: GNMT deficiency hypermethioninemia due to GNMT deficiency hypermethioninemia due to glycine N-methyltransferase deficiency	Gnmt	14711	Mus musculus (house mouse)
DOID:0070268	congenital disorder of glycosylation type IIp Aliases: CDG IIp CDG syndrome type IIp CDG2P CDGIIdp Carbohydrate deficient glycoprotein syndrome type IIp Congenital disorder of glycosylation type 2p TMEM199-CDG	TMEM199	147007	Homo sapiens (human)
DOID:0060536	mitochondrial complex I deficiency Aliases: isolated NADH-CoQ reductase deficiency isolated NADH-coenzyme Q reductase deficiency isolated NADH-ubiquinone reductase deficiency isolated mitochondrial respiratory chain complex I deficiency	SLC25A10	1468	Homo sapiens (human)
DOID:0060475	myoclonic-atonic epilepsy Aliases: EEOC childhood onset epileptic encephalopathy	SLC25A10	1468	Homo sapiens (human)

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