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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 **6676 - 6700** of **7942** in total

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Disease ID ▼	Disease Name	Gene Symbol	Gene ID	Organism
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)
DOID:0070433	hyperphosphatasia with impaired intellectual development syndrome 1 Aliases: GPIBD2 HPMRS1 glycosylphosphatidylinositol biosynthesis defect 2 hyperphosphatasia with mental retardation syndrome 1	PIGV	55650	Homo sapiens (human)
DOID:0070433	hyperphosphatasia with impaired intellectual development syndrome 1 Aliases: GPIBD2 HPMRS1 glycosylphosphatidylinositol biosynthesis defect 2 hyperphosphatasia with mental retardation syndrome 1	GPI18	852289	Saccharomyces cerevisiae S288C
DOID:0070433	hyperphosphatasia with impaired intellectual development syndrome 1 Aliases: GPIBD2 HPMRS1 glycosylphosphatidylinositol biosynthesis defect 2 hyperphosphatasia with mental retardation syndrome 1	pigv-1	172305	Caenorhabditis elegans
DOID:0070433	hyperphosphatasia with impaired intellectual development syndrome 1 Aliases: GPIBD2 HPMRS1 glycosylphosphatidylinositol biosynthesis defect 2 hyperphosphatasia with mental retardation syndrome 1	Pigv	366478	Rattus norvegicus (Norway rat)
DOID:0070433	hyperphosphatasia with impaired intellectual development syndrome 1 Aliases: GPIBD2 HPMRS1 glycosylphosphatidylinositol biosynthesis defect 2 hyperphosphatasia with mental retardation syndrome 1	pigv	100380028	Xenopus tropicalis (tropical clawed frog)
DOID:0070433	hyperphosphatasia with impaired intellectual development syndrome 1 Aliases: GPIBD2 HPMRS1 glycosylphosphatidylinositol biosynthesis defect 2 hyperphosphatasia with mental retardation syndrome 1	Pigv	230801	Mus musculus (house mouse)
DOID:0070433	hyperphosphatasia with impaired intellectual development syndrome 1 Aliases: GPIBD2 HPMRS1 glycosylphosphatidylinositol biosynthesis defect 2 hyperphosphatasia with mental retardation syndrome 1	pigv	100148642	Danio rerio (zebrafish)
DOID:0070433	hyperphosphatasia with impaired intellectual development syndrome 1 Aliases: GPIBD2 HPMRS1 glycosylphosphatidylinositol biosynthesis defect 2 hyperphosphatasia with mental retardation syndrome 1	PIG-V	19835383	Drosophila melanogaster (fruit fly)
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)
DOID:0070430	combined oxidative phosphorylation deficiency 57 Aliases: COXPD57	CRLS1	54675	Homo sapiens (human)
DOID:0070403	hypomyelinating leukodystrophy 26 Aliases: HLD26	SLC35B2	347734	Homo sapiens (human)
DOID:0070403	hypomyelinating leukodystrophy 26 Aliases: HLD26	sll	42115	Drosophila melanogaster (fruit fly)
DOID:0070399	hypomyelinating leukodystrophy 18 Aliases: HLD18	DEGS1	8560	Homo sapiens (human)
DOID:0070395	developmental and epileptic encephalopathy 110 Aliases: DEE110 early infantile epileptic encephalopathy 110	CACNA2D1	781	Homo sapiens (human)
DOID:0070385	developmental and epileptic encephalopathy 99 Aliases: DEE99 early infantile epileptic encephalopathy 99	Atp1a3	232975	Mus musculus (house mouse)
DOID:0070384	developmental and epileptic encephalopathy 98 Aliases: DEE98 early infantile epileptic encephalopathy 98	Atp1a2	24212	Rattus norvegicus (Norway rat)
DOID:0070384	developmental and epileptic encephalopathy 98 Aliases: DEE98 early infantile epileptic encephalopathy 98	Atp1a2	98660	Mus musculus (house mouse)
DOID:0070384	developmental and epileptic encephalopathy 98 Aliases: DEE98 early infantile epileptic encephalopathy 98	ATP1A2	477	Homo sapiens (human)
DOID:0070382	developmental and epileptic encephalopathy 95 Aliases: DEE95 early infantile epileptic encephalopathy 95	PIGS	94005	Homo sapiens (human)
DOID:0070352	stress-induced childhood-onset neurodegeneration with variable ataxia and seizures Aliases: CONDSIAS	Parg	31329	Drosophila melanogaster (fruit fly)
DOID:0070352	stress-induced childhood-onset neurodegeneration with variable ataxia and seizures Aliases: CONDSIAS	Adprs	100206	Mus musculus (house mouse)
DOID:0070352	stress-induced childhood-onset neurodegeneration with variable ataxia and seizures Aliases: CONDSIAS	adprs	796446	Danio rerio (zebrafish)
DOID:0070352	stress-induced childhood-onset neurodegeneration with variable ataxia and seizures Aliases: CONDSIAS	ADPRS BPHL PARG	54936 670 8505	Homo sapiens (human)
DOID:0070352	stress-induced childhood-onset neurodegeneration with variable ataxia and seizures Aliases: CONDSIAS	Parg	83507	Rattus norvegicus (Norway rat)

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