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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 **9251 - 9275** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism	Source
DOID:0112007	growth hormone secreting pituitary adenoma 2 Aliases: GH-secreting pituitary adenoma 2 PITA2 X-linked acromegaly acromegaly due to pituitary adenoma 2	GPR101	83550	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080932	primary localized cutaneous amyloidosis 3 Aliases: Amyloidosis cutis dyschromica	GPNMB	10457	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111630	familial erythrocytosis 8 Aliases: BPGM deficiency DPGM deficiency ECYT8 bisphosphoglycerate mutase deficiency bisphosphoglyceromutase deficiency diphosphoglycerate mutase deficiency of erythrocyte hemolytic anemia due to diphosphoglycerate mutase deficiency	GPM1	853705	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0111420	familial GPIHBP1 deficiency Aliases: familial glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 deficiency hyperlipoproteinemia type 1D hyperlipoproteinemia type ID	GPIHBP1	338328	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081223	glycosylphosphatidylinositol biosynthesis defect 16 Aliases: Intellectual developmental disorder, autosomal recessive 62	GPI2	856029	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0080283	developmental and epileptic encephalopathy 55 Aliases: DEE55 GPIBD14 early infantile epileptic encephalopathy 55 glycosylphosphatidylinositol biosynthesis defect 14	GPI19	852047	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
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	Alliance of Genome Resources
DOID:0070382	developmental and epileptic encephalopathy 95 Aliases: DEE95 early infantile epileptic encephalopathy 95	GPI17	852044	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0080140	multiple congenital anomalies-hypotonia-seizures syndrome 3 Aliases: M syndrome light fixation seizure syndrome	GPI16	856595	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0060284	paroxysmal nocturnal hemoglobinuria	GPI16 SPT14	855928 856595	Saccharomyces cerevisiae S288C	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	GPI13	850628	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0112216	developmental and epileptic encephalopathy 80 Aliases: DEE80 GPIBD20 early infantile epileptic encephalopathy 80 glycosylphosphatidylinositol biosynthesis defect 20	GPI10	852735	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:10112	sleeping sickness Aliases: African sleeping sickness African trypanosomiasis	GPI10	852735	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0112213	multiple congenital anomalies-hypotonia-seizures syndrome 4 Aliases: DEE77 GPIBD19 MCAHS4 developmental and epileptic encephalopathy 77 early infantile epileptic encephalopathy 77 glycosylphosphatidylinositol biosynthesis defect 19	GPI1	853130	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:589	congenital hemolytic anemia Aliases: congenital hemolytic anaemia hereditary hemolytic anaemia hereditary hemolytic anemia	GPI HBB SLC4A1	2821 3043 6521	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111166	molybdenum cofactor deficiency type C Aliases: MOCOD type C MOCODC combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type C molybdenum cofactor deficiency complementation group C	GPHN	10243	Homo sapiens (human)	Alliance of Genome Resources
DOID:3650	lactic acidosis	GPH1	856289	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:2746	glycogen storage disease V Aliases: Glycogen storage disease 5 Glycogen storage disease, type V McArdle's disease glycogen storage disease type V myophosphorylase deficiency	GPH1	856289	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:2754	glycogen storage disease VI Aliases: Glycogen storage disease 6 Hers' disease glycogen storage disease type VI hepatic glycogen phosphorylase deficiency hepatophosphorylase deficiency glycogenosis	GPH1	856289	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:14320	generalized anxiety disorder	GPER1 HTR1A HTR1B HTR1D HTR1E HTR2B NR3C1 SLC6A4 ZNF462	2852 2908 3350 3351 3352 3354 3357 58499 6532	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110219	Brugada syndrome 2 Aliases: BRGDA2	GPD1L	23171	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110219	Brugada syndrome 2 Aliases: BRGDA2	GPD1 GPD2	851539 854095	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0080844	omodysplasia 1	GPC6	10082	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111842	Keipert syndrome Aliases: KPTS nasodigitoacoustic syndrome	GPC4	2239	Homo sapiens (human)	Alliance of Genome Resources
DOID:3596	placental site trophoblastic tumor Aliases: Placental-Site Gestational Trophoblastic neoplasm placental site trophoblastic tumour	GPC3	2719	Homo sapiens (human)	Alliance of Genome Resources

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