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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 **926 - 950** of **4649** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▲
DOID:0070411	autosomal recessive spinocerebellar ataxia 30 Aliases: SCAR30	PITRM1	10531	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070415	brachycephaly, trichomegaly, and developmental delay Aliases: BTDD MCINS Macinnes syndrome	RPS23	6228	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070416	Luo-Schoch-Yamamoto syndrome Aliases: LUSYAM	RING1 RNF2	6015 6045	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070417	neurodevelopmental disorder with speech impairment and dysmorphic facies Aliases: NEDSID	SETD1A	9739	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070418	vertebral hypersegmentation and orofacial anomalies Aliases: VHO	GDF11 MSTN	10220 2660	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070420	developmental delay, hypotonia, and impaired language Aliases: DEDHIL	FBXW7	55294	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070422	syndromic X-linked intellectual disability Pilorge type Aliases: MRXSP	GLRA2	2742	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070423	early onset progressive encephalopathy with brain atrophy and thin corpus callosum Aliases: PEBAT early-onset progressive encephalopathy with brain atrophy and thin corpus callosum	TBCD	6904	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070425	combined oxidative phosphorylation deficiency 52 Aliases: COXPD52	NFS1	9054	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070430	combined oxidative phosphorylation deficiency 57 Aliases: COXPD57	CRLS1	54675	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070432	hyperphosphatasia with impaired intellectual development syndrome 5 Aliases: GPIBD11 HPMRS5 glycosylphosphatidylinositol biosynthesis defect 11 hyperphosphatasia with mental retardation syndrome 5	PIGW	284098	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070434	hyperphosphatasia with impaired intellectual development syndrome 2 Aliases: GPIBD6 HPMRS2 glycosylphosphatidylinositol biosynthesis defect 6 hyperphosphatasia with mental retardation syndrome 2	PIGO	84720	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070435	hyperphosphatasia with impaired intellectual development syndrome 3 Aliases: GPIBD8 HPMRS3 glycosylphosphatidylinositol biosynthesis defect 8 hyperphosphatasia with mental retardation syndrome 3	PGAP2	27315	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070436	hyperphosphatasia with impaired intellectual development syndrome 4 Aliases: GPIBD62 HPMRS6 glycosylphosphatidylinositol biosynthesis defect 62 hyperphosphatasia with mental retardation syndrome 6	PGAP3	93210	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070437	hyperphosphatasia with impaired intellectual development syndrome 6 Aliases: GPIBD40 HPMRS4 glycosylphosphatidylinositol biosynthesis defect 40 hyperphosphatasia with mental retardation syndrome 4	PIGY	84992	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070441	retinal macular dystrophy 4 Aliases: MCDR4	CLEC3B	7123	Homo sapiens (human)	Alliance of Genome Resources
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

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