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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB) and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	October 9, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **976 - 1000** of **4649** in total

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Disease ID ▲	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0070442	paroxysmal nonkinesigenic dyskinesia 3 Aliases: generalized epilepsy and paroxysmal dyskinesia	KCNMA1 KCNU1	157855 3778	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070443	neurodevelopmental disorder with cerebellar atrophy and motor dysfunction	GEMIN5	25929	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070444	neurodevelopmental disorder with language delay and seizures	TIAM1 TIAM2	26230 7074	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070450	mitochondrial DNA depletion syndrome 19	SLC25A10	1468	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070451	mitochondrial DNA depletion syndrome 20 Aliases: mitochondrial DNA depletion syndrome 20 (MNGIE type)	LIG3	3980	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070453	xanthinuria type II Aliases: XAN2	MOCOS	55034	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070454	hereditary spastic paraplegia 70 Aliases: SPG70 autosomal recessive spastic paraplegia 70	MARS1	4141	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070456	hereditary spastic paraplegia 87 Aliases: SPG87 autosomal recessive spastic paraplegia 87	TMEM63C	57156	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070459	hereditary spastic paraplegia 90A Aliases: SPG90A autosomal dominant spastic paraplegia 90A	SPTSSA	171546	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070460	hereditary spastic paraplegia 90B Aliases: SPG90B autosomal recessive spastic paraplegia 90B	SPTSSA	171546	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070461	mitochondrial complex V (ATP synthase) deficiency nuclear type 4A Aliases: MC5DN4A	ATP5F1A	498	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070462	mitochondrial complex V (ATP synthase) deficiency nuclear type 4B Aliases: MC5DN4B	ATP5F1A	498	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070466	carpal tunnel syndrome 1 Aliases: CTS1	TTR	7276	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070467	carpal tunnel syndrome 2 Aliases: CTS2	COMP	1311	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070468	Yoon-Bellen neurodevelopmental syndrome Aliases: YOBELN	OGDH OGDHL	4967 55753	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070469	neurodevelopmental disorder with dysmorphic facies and thin corpus callosum Aliases: NEDDFAC	SUPT16H	11198	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070471	early-onset epilepsy 2 Aliases: EPEO2	SETD1A	9739	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070472	early-onset epilepsy 3 Aliases: EPEO3	ATP6V0C	527	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070473	Zaki syndrome	WLS	79971	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070474	childhood-onset neurodegeneration with brain atrophy Aliases: CONDBA childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder	UBTF	7343	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070476	diphthamide deficiency syndrome Aliases: DEDSSH craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome developmental delay with short stature, dysmorphic facial features, and sparse hair	DPH2	1802	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070478	diphthamide deficiency syndrome 2 Aliases: DEDSSH2 developmental delay with short stature, dysmorphic facial features, and sparse hair 2	DPH2	1802	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070480	schwannomatosis 1 Aliases: SMARCB1-related schwannomatosis SWN1	SMARCB1	6598	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070482	spinal neurofibromatosis Aliases: FNSF SNF familial spinal neurofibromatosis	NF1	4763	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070483	Watson syndrome	NF1	4763	Homo sapiens (human)	Alliance of Genome Resources

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