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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 **6176 - 6200** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism	Source
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)	Alliance of Genome Resources
DOID:0081223	glycosylphosphatidylinositol biosynthesis defect 16 Aliases: Intellectual developmental disorder, autosomal recessive 62	PIGC	5279	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112216	developmental and epileptic encephalopathy 80 Aliases: DEE80 GPIBD20 early infantile epileptic encephalopathy 80 glycosylphosphatidylinositol biosynthesis defect 20	PIGB	9488	Homo sapiens (human)	Alliance of Genome Resources
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)	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	PIG-V	19835383	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:10112	sleeping sickness Aliases: African sleeping sickness African trypanosomiasis	PIG-B	38446	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
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)	Alliance of Genome Resources
DOID:0060713	autosomal recessive congenital ichthyosis 4B Aliases: ARCI4B harlequin ichthyosis harlequin type ichthyosis congenita harlequin type ichthyosis fetalis	PIG-A	37020	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0060284	paroxysmal nocturnal hemoglobinuria	PIG-A	37020	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0080139	multiple congenital anomalies-hypotonia-seizures syndrome 2 Aliases: developmental and epileptic encephalopathy 20 early infantile epileptic encephalopathy 20 glycosylphosphatidylinositol biosynthesis defect 4	PIG-A	37020	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0111607	distal arthrogryposis type 3 Aliases: DA3 Gordon syndrome camptodactyly-cleft palate-clubfoot syndrome distal arthrogryposis multiplex congenita type IIA	PIEZO2	63895	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111608	distal arthrogryposis type 5 Aliases: DA5 DAIIB arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome distal arthrogryposis type IIB distal arthrogryposis with ophthalmoplegia oculomelic amyoplasia	PIEZO2	63895	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111576	dehydrated hereditary stomatocytosis 1 Aliases: PSHK1 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema pseudohyperkalemia edinburgh pseudohyperkalemia familial 1, due to red cell leak	PIEZO1	9780	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081234	autosomal recessive intellectual developmental disorder 75	PIDD1	55367	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112347	hereditary spastic paraplegia 84 Aliases: SPG84 spastic paraplegia 84 autosomal recessive	PI4KA	5297	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050667	alcohol-related neurodevelopmental disorder Aliases: ARND static encephalopathy	PHO87 PHO90 PHO91	850403 853241 855747	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0080453	developmental and epileptic encephalopathy 25 Aliases: DEE25 developmental and epileptic encephalopathy 25, with amelogenesis imperfecta early infantile epileptic encephalopathy 25	PHO87 PHO90 PHO91	850403 853241 855747	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0111668	Kohlschutter-Tonz syndrome Aliases: KTZS Kohlschutter's syndrome amelocerebrohypohidrotic syndrome epilepsy and yellow teeth epilepsy dementia amelogenesis imperfecta epilepsy-dementia-amelogenesis imperfecta syndrome	PHO87 PHO90 PHO91	850403 853241 855747	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:10609	rickets Aliases: active rickets	PHO8	852092	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:13809	familial combined hyperlipidemia Aliases: familial multiple lipoprotein-type hyperlipidemia hyperbetalipoproteinemia with prebetalipoproteinemia mixed hyperlipidaemia type IIb hyperlipoproteinemia	PHO8	852092	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0080001	bone disease	PHO8	852092	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:8719	in situ carcinoma	PHO8	852092	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:3308	embryonal carcinoma Aliases: primary extragonadal embryonal carcinoma	PHO8	852092	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:2994	germ cell cancer Aliases: malignant tumor of the germ cell	PHO8	852092	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:3594	choriocarcinoma Aliases: Chorioepithelioma	PHO8	852092	Saccharomyces cerevisiae S288C	Alliance of Genome Resources

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