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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 **3226 - 3250** of **7942** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism
DOID:0081223	glycosylphosphatidylinositol biosynthesis defect 16 Aliases: Intellectual developmental disorder, autosomal recessive 62	GPI2	856029	Saccharomyces cerevisiae S288C
DOID:0080283	developmental and epileptic encephalopathy 55 Aliases: DEE55 GPIBD14 early infantile epileptic encephalopathy 55 glycosylphosphatidylinositol biosynthesis defect 14	GPI19	852047	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	GPI18	852289	Saccharomyces cerevisiae S288C
DOID:10112	sleeping sickness Aliases: African sleeping sickness African trypanosomiasis	GPI10	852735	Saccharomyces cerevisiae S288C
DOID:0112216	developmental and epileptic encephalopathy 80 Aliases: DEE80 GPIBD20 early infantile epileptic encephalopathy 80 glycosylphosphatidylinositol biosynthesis defect 20	GPI10	852735	Saccharomyces cerevisiae S288C
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
DOID:0050888	syndromic intellectual disability	GPI PIK3CA PIK3CB PIK3CD PIK3CG	2821 5290 5291 5293 5294	Homo sapiens (human)
DOID:0060802	syndromic X-linked intellectual disability Snyder type Aliases: SRS Snyder-Robinson mental retardation syndrome Snyder-Robinson syndrome mental retardation, X-linked, Snyder-Robinson type spermine synthase deficiency	GPI PIK3CA PIK3CB PIK3CD PIK3CG	2821 5290 5291 5293 5294	Homo sapiens (human)
DOID:4372	intracranial embolism Aliases: Cerebral embolism with cerebral infarction cerebral embolism	GPI KL	2821 9365	Homo sapiens (human)
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
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
DOID:3650	lactic acidosis	GPH1	856289	Saccharomyces cerevisiae S288C
DOID:13580	cholestasis Aliases: Obstruction of bile duct bile occlusion	GPH1 ZWF1	855480 856289	Saccharomyces cerevisiae S288C
DOID:2951	motion sickness Aliases: Travel Sickness	GPD2	2820	Homo sapiens (human)
DOID:0110219	Brugada syndrome 2 Aliases: BRGDA2	GPD1 GPD2	851539 854095	Saccharomyces cerevisiae S288C
DOID:0080844	omodysplasia 1	GPC6	10082	Homo sapiens (human)
DOID:5681	ovarian embryonal carcinoma Aliases: Embryonal carcinoma of ovary Embryonal carcinoma of the Ovary	GPC3	2719	Homo sapiens (human)
DOID:3596	placental site trophoblastic tumor Aliases: Placental-Site Gestational Trophoblastic neoplasm placental site trophoblastic tumour	GPC3	2719	Homo sapiens (human)
DOID:5299	endometrial clear cell adenocarcinoma Aliases: Clear cell carcinoma of Endometrium	GPC3	2719	Homo sapiens (human)
DOID:4773	congenital mesoblastic nephroma	GPC3	2719	Homo sapiens (human)
DOID:5348	adult endodermal sinus tumor Aliases: adult Yolk Sac neoplasm adult endodermal sinus neoplasm	GPC3	2719	Homo sapiens (human)
DOID:4772	obsolete mesoblastic nephroma	GPC3	2719	Homo sapiens (human)
DOID:2339	Crouzon syndrome Aliases: Craniofacial Dysostosis	GPC3 TKTL1	2719 8277	Homo sapiens (human)
DOID:1911	endodermal sinus tumor Aliases: Hepatoid yolk sac tumour Yolk Sac neoplasm Yolk sac tumour endodermal sinus tumour infantile embryonal carcinoma yolk sac tumor	GPC3 PTEN	2719 5728	Homo sapiens (human)
DOID:3672	rhabdoid cancer Aliases: Rhabdoid sarcoma malignant rhabdoid tumour	GPC3 PIK3CA PIK3CB PIK3CD PIK3CG PTGS2 SMUG1	23583 2719 5290 5291 5293 5294 5743	Homo sapiens (human)

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