GlyCosmos Portal

Source	Last Updated
Alliance of Genome Resources	July 29, 2024
DisGeNET	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **5251 - 5275** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:0050565	autosomal recessive nonsyndromic deafness	ACO2 ACOX1 ARSA CD109 CHSY1 COG4 LRTOMT OTOA OTOG PSAP TECTA TMTC4	135228 146183 220074 22856 25839 340990 410 50 51 5660 7007 84899	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:0050566	X-linked nonsyndromic deafness Aliases: X-linked deafness	ACO2 ACOX1 ARSA CD109 CHSY1 COG4 LRTOMT OTOA OTOG PRPS1 PSAP TECTA	135228 146183 220074 22856 25839 340990 410 50 51 5631 5660 7007	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:0050564	autosomal dominant nonsyndromic deafness Aliases: autosomal dominant deafness	ACO2 ACOX1 ARSA CD109 CHSY1 COG4 LRTOMT OTOA OTOG PI4KB PSAP TECTA	135228 146183 220074 22856 25839 340990 410 50 51 5298 5660 7007	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0110498	autosomal recessive nonsyndromic deafness 4 Aliases: DFNB4 autosomal recessive deafness 4 with enlarged vestibular aqueduct	ACO2 ACOX1 ARSA CD109 CHSY1 COG4 LRTOMT OTOA OTOG PSAP RENBP SMUG1 TECTA	135228 146183 220074 22856 23583 25839 340990 410 50 51 5660 5973 7007	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0080571	congenital disorder of glycosylation Iu Aliases: congenital disorder of glycosylation 1u	Dpm2	13481	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080557	congenital disorder of glycosylation Ie Aliases: congenital disorder of glycosylation 1e	Dpm1	13480	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110676	congenital myasthenic syndrome 13 Aliases: CMS13 CMSTA2 congenital myasthenic syndrome 13 with tubular aggregates congenital myasthenic syndrome with tubular aggregates 2	Dpagt1	13478	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080562	congenital disorder of glycosylation Ij Aliases: Congenital disorder of glycosylation 1j	Dpagt1	13478	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:10579	leukodystrophy	ABAT ACER3 ACOT12 ACOX1 ARSA ATRN DAG1 DEGS1 ECHS1 GALC GBE1 HSD17B4 MAG PC PDHA1 PLA2G1B PLA2G6 PLB1 PSAP SDHA SDHB SLC17A5 SORD TYMP	134526 151056 1605 18 1890 1892 2581 2632 26503 3295 4099 410 5091 51 5160 5319 55331 5660 6389 6390 6652 8398 8455 8560	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0111626	D-glyceric aciduria Aliases: D-glycerate kinase deficiency D-glyceric acidemia D-glycericacidemia deficiency of glycerate kinase non ketotic hyperglycinemia syndrome	GLYCTK	132158	Homo sapiens (human)	Alliance of Genome Resources
DOID:9268	glycine encephalopathy Aliases: Non-ketotic hyperglycinemia nonketotic hyperglycinemia	AMT B3GAT1 GCSH GLDC GLYCTK MGAT1 UGCG	132158 2653 27087 2731 275 4245 7357	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:10112	sleeping sickness Aliases: African sleeping sickness African trypanosomiasis	pigb-1	13184808	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0112216	developmental and epileptic encephalopathy 80 Aliases: DEE80 GPIBD20 early infantile epileptic encephalopathy 80 glycosylphosphatidylinositol biosynthesis defect 20	pigb-1	13184808	Caenorhabditis elegans	Alliance of Genome Resources
DOID:10632	Wolfram syndrome Aliases: WFS	COMT	1312	Homo sapiens (human)	DisGeNET
DOID:10646	schizotypal personality disorder	COMT	1312	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0090054	episodic kinesigenic dyskinesia 2	COMT	1312	Homo sapiens (human)	DisGeNET
DOID:0110629	Wolfram syndrome 1 Aliases: DIDMOAD WFS1 diabetes mellitus AND insipidus with optic atrophy AND deafness	COMT	1312	Homo sapiens (human)	DisGeNET
DOID:0050158	desquamative interstitial pneumonia Aliases: RBILD familial desquamative interstitial pneumonitis respiratory bronchiolitis-associated interstitial lung disease	COMT SFTPC	1312 6440	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:9427	hypertensive encephalopathy	COMT PPARA	1312 5465	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0080169	tricuspid atresia	COMT PLD1	1312 5337	Homo sapiens (human)	DisGeNET
DOID:8741	seborrheic dermatitis Aliases: SKIN SEBORRHEIC Seborrhoeic dermatitis Seborrhoeic eczema seborrhea	CAT COMT LGALS3 NTHL1 PIK3CA PIK3CB PIK3CD PIK3CG TLR2	1312 3958 4913 5290 5291 5293 5294 7097 847	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:0060877	bullous congenital ichthyosiform erythroderma Aliases: bullous type ichthyosis ichthyosis bullosa of Siemens superficial epidermolytic ichthyosis	COMT LCT	1312 3938	Homo sapiens (human)	DisGeNET
DOID:1509	avoidant personality disorder Aliases: anxious personality disorder	COMT IMPA1	1312 3612	Homo sapiens (human)	DisGeNET
DOID:2745	narcissistic personality disorder	COMT IMPA1	1312 3612	Homo sapiens (human)	DisGeNET
DOID:10937	impulse control disorder	APRT COMT PAFAH1B1 PLCD1 PLCG1	1312 353 5048 5333 5335	Homo sapiens (human)	DisGeNET

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