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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 **3076 - 3100** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism
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: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:0060188	jejunoileitis	FUT2 LYZ PLA2G1B PLA2G2A PLA2G6 PLB1	151056 2524 4069 5319 5320 8398	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:0050955	spinocerebellar ataxia type 2	CAT ELOVL5 HPGDS PLB1 SDHC	151056 27306 60481 6391 847	Homo sapiens (human)
DOID:0050879	fragile X-associated tremor/ataxia syndrome Aliases: FXTAS syndrome	IGF2R PLA2G2A PLB1	151056 3482 5320	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:2367	neuroaxonal dystrophy	NAGA PLA2G1B PLA2G4A PLA2G6 PLB1	151056 4668 5319 5321 8398	Homo sapiens (human)
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:0110736	neurodegeneration with brain iron accumulation 2b Aliases: NBIA2b Neuroaxonal Dystrophy, Atypical Neurodegeneration With Brain Iron Accumulation, Pla2g6-Related	AKR1B10 PLA2G1B PLA2G6 PLB1	151056 5319 57016 8398	Homo sapiens (human)
DOID:0110740	neurodegeneration with brain iron accumulation 6 Aliases: CoPAN NBIA6 Neurodegeneration with brain iron accumulation due to COASY mutation	AKR1B10 PLA2G1B PLA2G6 PLB1	151056 5319 57016 8398	Homo sapiens (human)
DOID:0110737	neurodegeneration with brain iron accumulation 3 Aliases: Adult basal ganglia disease Ferritin-related neurodegeneration Hereditary ferritinopathy NBIA3 Neuroferritinopathy Neuroferritinopathy; Basal Ganglia Disease, Adult-Onset	AKR1B10 PLA2G1B PLA2G6 PLB1	151056 5319 57016 8398	Homo sapiens (human)
DOID:0110738	neurodegeneration with brain iron accumulation 4 Aliases: MPAN Mitochondrial Protein-Associated Neurodegeneration NBIA due to C19orf12 mutation NBIA4 Neurodegeneration with brain iron accumulation due to C19orf12 mutation Neurodegeneration with brain iron accumulation type 4	AKR1B10 PLA2G1B PLA2G6 PLB1	151056 5319 57016 8398	Homo sapiens (human)
DOID:3981	pantothenate kinase-associated neurodegeneration Aliases: Hallervorden-Spatz disease Hallervorden-Spatz syndrome NBIA1 Pigmentary pallidal degeneration brain Iron Accumulation type I syndrome neurodegeneration with brain iron accumulation 1	AKR1B10 PLA2G1B PLA2G6 PLB1	151056 5319 57016 8398	Homo sapiens (human)
DOID:0111206	autosomal dominant distal hereditary motor neuronopathy 2 Aliases: HMN II HMN IIA HMN2 HMN2A autosomal dominant adult spinal muscular atrophy IIA distal hereditary motor neuronopathy type 2 distal hereditary motor neuronopathy type 2A distal hereditary motor neuropathy type II distal hereditary motor neuropathy type IIA spinal Charcot-Marie-Tooth disease IIA	PLA2G1B PLB1	151056 5319	Homo sapiens (human)
DOID:0060556	Kufor-Rakeb syndrome Aliases: autosomal recessive Parkinson disease 9 autosomal recessive juvenile onset Parkinson disease 9	PLA2G1B PLB1	151056 5319	Homo sapiens (human)
DOID:6432	pulmonary hypertension	Has1 Has2 Has3 Hk1 Hmgb1 Hyal1 Hyal2 Myc Nampt Pgf Tnf	15116 15117 15118 15275 15289 15586 15587 17869 18654 21926 59027	Mus musculus (house mouse)
DOID:9409	diabetes insipidus	Has2	15117	Mus musculus (house mouse)
DOID:3320	Tay-Sachs disease Aliases: GM2 gangliosidosis, type 1 hexosaminidase A deficiency	Hexa	15211	Mus musculus (house mouse)
DOID:3211	lysosomal storage disease Aliases: disorder of lysosomal enzyme inborn lysosomal enzyme disorder lysosomal storage metabolism disorder	Hexb	15212	Mus musculus (house mouse)
DOID:12377	spinal muscular atrophy	Hexb	15212	Mus musculus (house mouse)
DOID:3323	Sandhoff disease Aliases: Sandhoff Jatzkewitz disease	Hexb	15212	Mus musculus (house mouse)
DOID:0080029	autosomal recessive spinocerebellar ataxia 16 Aliases: SCAR16	CNTN4 SUMF1	152330 285362	Homo sapiens (human)
DOID:10584	retinitis pigmentosa Aliases: pericentral pigmentary retinopathy	Hk1 Hkdc1 Kl Pomgnt1	15275 16591 216019 68273	Mus musculus (house mouse)
DOID:10923	sickle cell anemia Aliases: Hb SC disease Hb-S/Hb-C disease Hb-SS disease without crisis Hemoglobin S disease without crisis Sickle-cell/Hb-C disease without crisis drepanocytosis haemoglobin SC disease hemoglobin SC disease sickle cell anaemia	Hk1 Pgf Tnf	15275 18654 21926	Mus musculus (house mouse)

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