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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 **7176 - 7200** of **7942** in total

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Disease ID	Disease Name ▼	Gene Symbol	Gene ID	Organism
DOID:7400	Nijmegen breakage syndrome Aliases: Berlin breakage syndrome Microcephaly, normal intelligence and immunodeficiency NBS Seemanova syndrome II Seemanova syndrome type 2 ataxia-telangiectasia variant immunodeficiency-microcephaly-chromosomal instability syndrome microcephaly-immunodeficiency-lymphoreticuloma syndrome	IDH1 PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN TMED3	142 23423 3417 5290 5291 5293 5294 5728	Homo sapiens (human)
DOID:14504	Niemann-Pick disease Aliases: Sphingomyelinase Deficiency Disease lipoid histiocytosis sphingomyelin lipidosis	Npc1 Smpd1	18145 20597	Mus musculus (house mouse)
DOID:14504	Niemann-Pick disease Aliases: Sphingomyelinase Deficiency Disease lipoid histiocytosis sphingomyelin lipidosis	ARSA CALR CD22 CHIT1 CPT1A CYP11A1 FASN FCER2 FCN2 GALC GBA1 GBA2 GLA GLB1 GNPDA2 GPC1 ICAM1 IDUA LGALS9 LIPA NPC1 OGA PIK3CA PSAP SGPL1 SMPD1 SMPD2 SMPDL3A ST3GAL5 UGCG	10724 10924 1118 132789 1374 1583 2194 2208 2220 2581 2629 2717 2720 2817 3383 3425 3965 3988 410 4864 5290 5660 57704 6609 6610 7357 811 8869 8879 933	Homo sapiens (human)
DOID:14504	Niemann-Pick disease Aliases: Sphingomyelinase Deficiency Disease lipoid histiocytosis sphingomyelin lipidosis	asm-1 asm-2 asm-3	174131 176879 181323	Caenorhabditis elegans
DOID:0070114	Niemann-Pick disease type C2 Aliases: NPC2	GBA1	2629	Homo sapiens (human)
DOID:0070113	Niemann-Pick disease type C1 Aliases: NPC1	CALR CD22 CHIT1 CPT1A FASN FCER2 FCN2 GBA1 GBA2 GNPDA2 GPC1 LGALS9 LIPA NPC1 PIK3CA SMPD1 ST3GAL5 UGCG	1118 132789 1374 2194 2208 2220 2629 2817 3965 3988 4864 5290 57704 6609 7357 811 8869 933	Homo sapiens (human)
DOID:0070113	Niemann-Pick disease type C1 Aliases: NPC1	Npc1	18145	Mus musculus (house mouse)
DOID:0070112	Niemann-Pick disease type B	Smpd1	20597	Mus musculus (house mouse)
DOID:0070112	Niemann-Pick disease type B	asm-1 asm-2 asm-3	174131 176879 181323	Caenorhabditis elegans
DOID:0070112	Niemann-Pick disease type B	CHIT1 GBA1 ICAM1 SMPD1	1118 2629 3383 6609	Homo sapiens (human)
DOID:0070111	Niemann-Pick disease type A	Smpd1	20597	Mus musculus (house mouse)
DOID:0070111	Niemann-Pick disease type A	asm-1 asm-2 asm-3	174131 176879 181323	Caenorhabditis elegans
DOID:0070111	Niemann-Pick disease type A	CHIT1 GBA1 SMPD1	1118 2629 6609	Homo sapiens (human)
DOID:2012	Nezelof syndrome Aliases: Nezelof's syndrome T-cell immunodeficiency with thymic aplasia TIDTA thymic aplasia thymic dysplasia with normal immunoglobulins	DGCR2 IL18R1 PNP	4860 8809 9993	Homo sapiens (human)
DOID:0050474	Netherton syndrome	Gba1	14466	Mus musculus (house mouse)
DOID:0050474	Netherton syndrome	gba-3 gba-4	177314 178535	Caenorhabditis elegans
DOID:0050474	Netherton syndrome	ACE GBA1 ICAM1 PTGS2	1636 2629 3383 5743	Homo sapiens (human)
DOID:0060346	Native American myopathy Aliases: Bailey-Bloch congenital myopathy congenital myopathy 13	G6PD	2539	Homo sapiens (human)
DOID:0060599	Nance-Horan syndrome	AKR1C4 CNTN3 COG1 CYP2B6 DGCR2 FREM1 G6PD GAS1 LSS NT5E SLC26A2	1109 1555 158326 1836 2539 2619 4047 4907 5067 9382 9993	Homo sapiens (human)
DOID:0060463	NUT midline carcinoma Aliases: nuclear protein in testis midline carcinoma	PIK3CA PIK3CB PIK3CD PIK3CG	5290 5291 5293 5294	Homo sapiens (human)
DOID:0060728	NGLY1-deficiency Aliases: NGLY1-CDDG congenital disorder of deglycosylation congenital disorder of glycosylation type Iv deficiency of N-glycanase 1	ENGASE NGLY1 PGM1	5236 55768 64772	Homo sapiens (human)
DOID:0060409	NFIA-related disorder Aliases: 1p31p32 microdeletion syndrome Chromosome 1, Monosomy 1p32 brain malformations with or without urinary tract defects chromosome 1p32-p31 deletion syndrome	CYP11A1 FREM1 PAFAH1B1 PRNP	1583 158326 5048 5621	Homo sapiens (human)
DOID:13276	Mycoplasma pneumoniae pneumonia Aliases: Mycoplasma pneumonia Mycoplasmal pneumonia Pneumonia due to Eaton's agent Pneumonia due to Mycoplasma pneumoniae Pneumonia due to Mycoplasma pneumoniae (disorder) cold agglutinin positive pneumonia	C29E4.10	183002	Caenorhabditis elegans
DOID:13276	Mycoplasma pneumoniae pneumonia Aliases: Mycoplasma pneumonia Mycoplasmal pneumonia Pneumonia due to Eaton's agent Pneumonia due to Mycoplasma pneumoniae Pneumonia due to Mycoplasma pneumoniae (disorder) cold agglutinin positive pneumonia	Galc Tnf	14420 21926	Mus musculus (house mouse)
DOID:13276	Mycoplasma pneumoniae pneumonia Aliases: Mycoplasma pneumonia Mycoplasmal pneumonia Pneumonia due to Eaton's agent Pneumonia due to Mycoplasma pneumoniae Pneumonia due to Mycoplasma pneumoniae (disorder) cold agglutinin positive pneumonia	galc.L	446948	Xenopus laevis (African clawed frog)

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