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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 **3026 - 3050** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism
DOID:3205	melanotic neurilemmoma Aliases: Melanotic Schwannoma Pigmented Neurilemmoma Pigmented schwannoma	ARSA B3GAT1 CAT CD44 CYP2E1 NCAM1 PIK3CA PIK3CB PIK3CD PIK3CG PRNP PTEN PTGS2 SIGLEC7 STS TMEM165 VCAN	1462 1571 27036 27087 410 412 4684 5290 5291 5293 5294 55858 5621 5728 5743 847 960	Homo sapiens (human)
DOID:3206	plexiform schwannoma Aliases: Plexiform Neurinoma Plexiform neurilemmoma	ARSA B3GAT1 CAT CD44 CYP2E1 NCAM1 PIK3CA PIK3CB PIK3CD PIK3CG PRNP PTEN PTGS2 SIGLEC7 STS TMEM165 VCAN	1462 1571 27036 27087 410 412 4684 5290 5291 5293 5294 55858 5621 5728 5743 847 960	Homo sapiens (human)
DOID:3627	aortic aneurysm Aliases: ruptured aortic aneurysm	ACE ALOX5 CAT CD38 CTSA GAA GAPDH LGALS3 MBD4 MMP17 PCYT1A PTEN PTGS2 SLC2A10 SMUG1 TMTC3 UMOD VCAN	1462 160418 1636 23583 240 2548 2597 3958 4326 5130 5476 5728 5743 7369 81031 847 8930 952	Homo sapiens (human)
DOID:0080202	adenoid cystic carcinoma	ACACA ACACB CD44 CNTN6 GPC3 HSPG2 ICAM5 IDH1 ISYNA1 LGALS3 LYZ NCAM1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGS2 PYGB RECK SDC1 SLC3A2 SMUG1 ST3GAL4 TP53 VCAN	1462 23583 2719 27255 31 32 3339 3417 3958 4069 4684 51477 5290 5291 5293 5294 5728 5743 5834 6382 6484 6520 7087 7157 8434 960	Homo sapiens (human)
DOID:4866	salivary gland adenoid cystic carcinoma Aliases: Cylindroma	ACACA ACACB CD44 CNTN6 GPC3 HSPG2 ICAM5 IDH1 ISYNA1 LGALS3 LYZ NCAM1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGS2 PYGB RECK SDC1 SMUG1 ST3GAL4 VCAN	1462 23583 2719 27255 31 32 3339 3417 3958 4069 4684 51477 5290 5291 5293 5294 5728 5743 5834 6382 6484 7087 8434 960	Homo sapiens (human)
DOID:0050469	Costello syndrome Aliases: FCS SYNDROME Faciocutaneoskeletal Syndrome	CHST11 GLB1 PIK3CA PIK3CB PIK3CD PIK3CG VCAN	1462 2720 50515 5290 5291 5293 5294	Homo sapiens (human)
DOID:3507	dermatofibrosarcoma protuberans	CD38 PTEN VCAN	1462 5728 952	Homo sapiens (human)
DOID:0060363	glycerol kinase deficiency	Gk2 Gk	14626 14933	Mus musculus (house mouse)
DOID:9675	pulmonary emphysema	Fut8 Gclc Kl Tlr4	14629 16591 21898 53618	Mus musculus (house mouse)
DOID:0111681	glutamate-cysteine ligase deficiency Aliases: gamma-glutamylcysteine synthetase deficiency hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency	Gclc	14629	Mus musculus (house mouse)
DOID:1572	normal pressure hydrocephalus Aliases: Low pressure hydrocephalus	ACE ALDH3A2 MLYCD NCAN PRNP PSMD10 SMUG1 UMOD	1463 1636 224 23417 23583 5621 5716 7369	Homo sapiens (human)
DOID:14695	galactokinase deficiency Aliases: Galactosemia II	Galk1	14635	Mus musculus (house mouse)
DOID:3314	angiomyolipoma	ABO CSPG4 LGALS3 MELTF OGG1 PKD1 PTEN SMUG1	1464 23583 28 3958 4241 4968 5310 5728	Homo sapiens (human)
DOID:4239	alveolar soft part sarcoma	CD38 COG8 TMED6	146456 84342 952	Homo sapiens (human)
DOID:4795	GM2 gangliosidosis, AB variant Aliases: Tay-Sachs disease AB variant Tay-Sachs disease, variant AB	Gm2a	14667	Mus musculus (house mouse)
DOID:3321	GM2 gangliosidosis Aliases: gangliosidosis GM2	Gm2a	14667	Mus musculus (house mouse)
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)
DOID:0070450	mitochondrial DNA depletion syndrome 19	SLC25A10	1468	Homo sapiens (human)
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: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: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:3498	pancreatic ductal adenocarcinoma Aliases: ductal adenocarcinoma of the pancreas	Got1	14718	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:1059	intellectual disability	Gpi1 Ndst1 Ndst2 Ndst3 Ndst4	14751 15531 17423 64580 83398	Mus musculus (house mouse)

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