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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 **5851 - 5875** of **7942** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism
DOID:0112216	developmental and epileptic encephalopathy 80 Aliases: DEE80 GPIBD20 early infantile epileptic encephalopathy 80 glycosylphosphatidylinositol biosynthesis defect 20	PIG-B	38446	Drosophila melanogaster (fruit fly)
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:0080139	multiple congenital anomalies-hypotonia-seizures syndrome 2 Aliases: developmental and epileptic encephalopathy 20 early infantile epileptic encephalopathy 20 glycosylphosphatidylinositol biosynthesis defect 4	PIGA	5277	Homo sapiens (human)
DOID:0080342	Simpson-Golabi-Behmel syndrome type 2	PIGA	5277	Homo sapiens (human)
DOID:0112216	developmental and epileptic encephalopathy 80 Aliases: DEE80 GPIBD20 early infantile epileptic encephalopathy 80 glycosylphosphatidylinositol biosynthesis defect 20	PIGB	9488	Homo sapiens (human)
DOID:0081223	glycosylphosphatidylinositol biosynthesis defect 16 Aliases: Intellectual developmental disorder, autosomal recessive 62	PIGC	5279	Homo sapiens (human)
DOID:0080207	CAKUT2 Aliases: Congenital anomalies of the kidney and urinary tract 2	PIGL	9487	Homo sapiens (human)
DOID:0112152	CHIME syndrome Aliases: PIGL-CDG Zunich neuroectodermal syndrome Zunich-Kaye syndrome coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome congenital disorder of glycosylation due to PIGL deficiency neuroectodermal dysplasia, CHIME type neuroectodermal syndrome, Zunich type	PIGL	9487	Homo sapiens (human)
DOID:0080138	multiple congenital anomalies-hypotonia-seizures syndrome 1	PIGN	23556	Homo sapiens (human)
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:4022	ureterocele	PIGP PIGQ	51227 9091	Homo sapiens (human)
DOID:0080283	developmental and epileptic encephalopathy 55 Aliases: DEE55 GPIBD14 early infantile epileptic encephalopathy 55 glycosylphosphatidylinositol biosynthesis defect 14	PIGP	51227	Homo sapiens (human)
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	PIGQ	9091	Homo sapiens (human)
DOID:0070382	developmental and epileptic encephalopathy 95 Aliases: DEE95 early infantile epileptic encephalopathy 95	PIGS	94005	Homo sapiens (human)
DOID:0080140	multiple congenital anomalies-hypotonia-seizures syndrome 3 Aliases: M syndrome light fixation seizure syndrome	PIGT	51604	Homo sapiens (human)
DOID:743	dermatographia Aliases: dermatographic urticaria dermographism	PIGT	51604	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:8455	pyridoxine deficiency anemia Aliases: vitamin B6 deficiency syndrome	PIGV	55650	Homo sapiens (human)
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: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:0080149	adult acute monocytic leukemia	PIK3CA PIK3CB PIK3CD PIK3CG PLA2G4A PRKAA2 VCAM1	5290 5291 5293 5294 5321 5563 7412	Homo sapiens (human)
DOID:8858	tonsil cancer Aliases: malignant Tonsillar tumor malignant neoplasm of faucial tonsil malignant neoplasm of palatine tonsil malignant neoplasm of tonsil, faucial malignant tumor of tonsil	PIK3CA PIK3CB PIK3CD PIK3CG PTEN SMUG1	23583 5290 5291 5293 5294 5728	Homo sapiens (human)
DOID:0080548	Noonan syndrome with multiple lentigines 1 Aliases: LEOPARD syndrome 1	PIK3CA PIK3CB PIK3CD PIK3CG PTEN	5290 5291 5293 5294 5728	Homo sapiens (human)
DOID:0080191	PTEN hamartoma tumor syndrome	PIK3CA PIK3CB PIK3CD PIK3CG PTEN	5290 5291 5293 5294 5728	Homo sapiens (human)
DOID:14291	Noonan syndrome with multiple lentigines Aliases: Capute-Rimoin-Konigsmark-Esterly-Richardson syndrome Generalized lentiginosis Gorlin syndrome II LEOPARD syndrome Lentiginosis profusa syndrome Moynahan syndrome Multiple lentigines syndrome Progressive cardiomyopathic lentiginosis	PIK3CA PIK3CB PIK3CD PIK3CG PTEN	5290 5291 5293 5294 5728	Homo sapiens (human)

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