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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 **851 - 875** of **7942** in total

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Disease ID ▲	Disease Name	Gene Symbol	Gene ID	Organism
DOID:0060485	Mowat-Wilson syndrome Aliases: Hirschsprung disease mental retardation syndrome microcephaly, mental retardation, and distinct facial featrues, with or without Hirschprung disease	ARSD	414	Homo sapiens (human)
DOID:0060486	Perry syndrome Aliases: parkinsonism with alveolar hypoventilation and mental depression	HACD1	9200	Homo sapiens (human)
DOID:0060488	Pitt-Hopkins syndrome	PTEN	5728	Homo sapiens (human)
DOID:0060490	Schimke immuno-osseous dysplasia Aliases: Schimke immunoosseous dysplasia Schimke syndrome immunoosseous dysplasia Schimke type spondyloepiphyseal dysplasia - nephrotic syndrome	AKR1B10 CHPT1 GM2A HEXB	2760 3074 56994 57016	Homo sapiens (human)
DOID:0060491	SPOAN syndrome Aliases: spastic paraplegia, optic atropy, and neuropathy spastic paraplegia, optic atropy, and neuropathy syndrome	B4GALNT1 CYP2B6 CYP2U1 CYP39A1 CYP7B1 FAR1 GBA2 L1CAM MAG PCYT2 PLA2G6 PNPLA6 SELENOI SLC33A1 ST3GAL5	10908 113612 1555 2583 3897 4099 51302 57704 5833 8398 84188 85465 8869 9197 9420	Homo sapiens (human)
DOID:0060496	respiratory allergy Aliases: airway allergy	Tl	43222	Drosophila melanogaster (fruit fly)
DOID:0060496	respiratory allergy Aliases: airway allergy	MBL2 TLR4	4153 7099	Homo sapiens (human)
DOID:0060496	respiratory allergy Aliases: airway allergy	Tlr4	21898	Mus musculus (house mouse)
DOID:0060496	respiratory allergy Aliases: airway allergy	Tlr4	29260	Rattus norvegicus (Norway rat)
DOID:0060535	Warsaw breakage syndrome Aliases: WABS	PARP1	142	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: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	27376	Mus musculus (house mouse)
DOID:0060537	mitochondrial complex II deficiency Aliases: isolated mitochondrial respiratory chain complex II deficiency isolated succinate-CoQ reductase deficiency isolated succinate-coenzyme Q reductase deficiency isolated succinate-ubiquinone reductase deficiency	SDHA SDHB SDHD SORD	6389 6390 6392 6652	Homo sapiens (human)
DOID:0060538	purpura fulminans Aliases: purpura gangrenosa	ANXA5 CD14 COLEC11 MASP1 MBL2 NCAM1 PC PLD1 SDC1 SELL SLC17A5	26503 308 4153 4684 5091 5337 5648 6382 6402 78989 929	Homo sapiens (human)
DOID:0060540	Hermansky-Pudlak syndrome 2	GOLPH3	64083	Homo sapiens (human)
DOID:0060543	Hermansky-Pudlak syndrome 5	PRKAA2	5563	Homo sapiens (human)
DOID:0060548	luminal breast carcinoma A Aliases: Luminal A Breast Carcinoma	ACACA CDH13 CYP19A1 CYP7B1 FASN GLCE H6PD HMMR IDH2 IL18R1 PARP1 PDHB PGLS PIK3CA PLCG1 PTEN SMUG1	1012 142 1588 2194 23583 25796 26035 31 3161 3418 5162 5290 5335 5728 8809 9420 9563	Homo sapiens (human)
DOID:0060549	Barber-Say syndrome	XYLT1	64131	Homo sapiens (human)
DOID:0060550	ablepharon macrostomia syndrome	ACE	1636	Homo sapiens (human)
DOID:0060551	poikiloderma with neutropenia Aliases: poikiloderma with neutropenia, Clericuzio type	ENOSF1 GPX1 GPX3 MAG PLCB1	23236 2876 2878 4099 55556	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:0060563	Char syndrome	TFAP2B	7021	Homo sapiens (human)
DOID:0060563	Char syndrome	Tfap2b	21419	Mus musculus (house mouse)
DOID:0060567	erythema elevatum diutinum	CYP19A1	1588	Homo sapiens (human)
DOID:0060573	von Willebrand's disease 1 Aliases: VWD type 1 VWD1 von Willebrand disease type 1 von Willebrand disease type I	ABO BAAT HPSE	10855 28 570	Homo sapiens (human)

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