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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 **6651 - 6675** of **7942** in total

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Disease ID ▼	Disease Name	Gene Symbol	Gene ID	Organism
DOID:0080005	bone remodeling disease	IDP2 IDP3	850871 855723	Saccharomyces cerevisiae S288C
DOID:0080005	bone remodeling disease	Idh2	361596	Rattus norvegicus (Norway rat)
DOID:0080005	bone remodeling disease	IDH2	3418	Homo sapiens (human)
DOID:0080005	bone remodeling disease	Idh2	269951	Mus musculus (house mouse)
DOID:0080001	bone disease	ACAN ACE ALDH7A1 ALPL ALPP ATP6V0A2 ATRNL1 B3GALT6 B3GAT1 B4GALT7 CD22 CEACAM5 CHI3L1 COL9A2 CTNS CYP24A1 CYP3A5 DCN ENPP1 EXT1 EXT2 FDPS GLB1 GLO1 GPNMB GPX1 HPRT1 IDUA IL1R1 INPPL1 KL KLRB1 MGLL PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKD2 PLOD3 PNPLA2 SCP2 SDC1 SLC2A10 SOAT1 SPHK2	10457 1048 1116 11285 11343 126792 1298 1497 1577 1591 1634 1636 176 2131 2132 2224 23545 249 250 26033 27087 2720 2739 2876 3251 3425 3554 3636 3820 501 5130 5167 5290 5291 5293 5294 5310 5311 56848 57104 6342 6382 6646 81031 8985 933 9365	Homo sapiens (human)
DOID:0080000	muscular disease	CPT2	38355	Drosophila melanogaster (fruit fly)
DOID:0080000	muscular disease	ACACA ACACB CPT2 FASN LPL	1376 2194 31 32 4023	Homo sapiens (human)
DOID:0070519	early-onset vitamin B6-dependent epilepsy 4 Aliases: AASA dehydrogenase deficiency EPEO4 PDE-ALDH7A1 antiquitin deficiency	ALDH7A1	501	Homo sapiens (human)
DOID:0070516	Mitchell syndrome	ACOX1	37028	Drosophila melanogaster (fruit fly)
DOID:0070516	Mitchell syndrome	ACOX1	51	Homo sapiens (human)
DOID:0070468	Yoon-Bellen neurodevelopmental syndrome Aliases: YOBELN	OGDH OGDHL	4967 55753	Homo sapiens (human)
DOID:0070468	Yoon-Bellen neurodevelopmental syndrome Aliases: YOBELN	Ogdh	360975	Rattus norvegicus (Norway rat)
DOID:0070468	Yoon-Bellen neurodevelopmental syndrome Aliases: YOBELN	ogdhl.L	447370	Xenopus laevis (African clawed frog)
DOID:0070468	Yoon-Bellen neurodevelopmental syndrome Aliases: YOBELN	Ogdh	18293	Mus musculus (house mouse)
DOID:0070468	Yoon-Bellen neurodevelopmental syndrome Aliases: YOBELN	ogdh-1	177235	Caenorhabditis elegans
DOID:0070467	carpal tunnel syndrome 2 Aliases: CTS2	Tsp	33941	Drosophila melanogaster (fruit fly)
DOID:0070460	hereditary spastic paraplegia 90B Aliases: SPG90B autosomal recessive spastic paraplegia 90B	SPTSSA	171546	Homo sapiens (human)
DOID:0070459	hereditary spastic paraplegia 90A Aliases: SPG90A autosomal dominant spastic paraplegia 90A	SPTSSA	171546	Homo sapiens (human)
DOID:0070450	mitochondrial DNA depletion syndrome 19	Slc25a10	27376	Mus musculus (house mouse)
DOID:0070450	mitochondrial DNA depletion syndrome 19	SLC25A10	1468	Homo sapiens (human)
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)
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)
DOID:0070436	hyperphosphatasia with impaired intellectual development syndrome 4 Aliases: GPIBD62 HPMRS6 glycosylphosphatidylinositol biosynthesis defect 62 hyperphosphatasia with mental retardation syndrome 6	PGAP3	35570	Drosophila melanogaster (fruit fly)
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)
DOID:0070435	hyperphosphatasia with impaired intellectual development syndrome 3 Aliases: GPIBD8 HPMRS3 glycosylphosphatidylinositol biosynthesis defect 8 hyperphosphatasia with mental retardation syndrome 3	PGAP2	33258	Drosophila melanogaster (fruit fly)

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