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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 **13276 - 13300** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism	Source
DOID:0080559	congenital disorder of glycosylation Ig Aliases: ALG12-congenital disorder of glycosylation congenital disorder of glycosylation 1g	algn-12	179185	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0080470	developmental and epileptic encephalopathy 36 Aliases: congenital disorder of glycosylation, type Is early infantile epileptic encephalopathy 36	algn-13	179890	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0110658	congenital myasthenic syndrome 15 Aliases: CMS15 congenital myasthenic syndrome 15 without tubular aggregates	algn-14	187398	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0080561	congenital disorder of glycosylation Ii Aliases: congenital disorder of glycosylation 1i	algn-2	173912	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0110669	congenital myasthenic syndrome 14 Aliases: CMS14 CMSTA3 congenital myasthenic syndrome 14, with tubular aggregates congenital myasthenic syndrome with tubular aggregates 3	algn-2	173912	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0080556	congenital disorder of glycosylation Id Aliases: congenital disorder of glycosylation 1d	algn-3	175065	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0080555	congenital disorder of glycosylation Ic Aliases: congenital disorder of glycosylation 1c	algn-6	182392	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0110676	congenital myasthenic syndrome 13 Aliases: CMS13 CMSTA2 congenital myasthenic syndrome 13 with tubular aggregates congenital myasthenic syndrome with tubular aggregates 2	algn-7	190436	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0080562	congenital disorder of glycosylation Ij Aliases: Congenital disorder of glycosylation 1j	algn-7	190436	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0080560	congenital disorder of glycosylation Ih Aliases: congenital disorder of glycosylation 1h	algn-8	174542	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0080564	congenital disorder of glycosylation Il Aliases: congenital disorder of glycosylation 1l	algn-9	174633	Caenorhabditis elegans	Alliance of Genome Resources
DOID:1338	congenital dyserythropoietic anemia Aliases: congenital dyshaematopoietic anaemia	alpha-Man-IIa	41126	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0081097	Rafiq syndrome Aliases: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15	alpha-Man-Ib	43436	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:3413	alpha-mannosidosis Aliases: Alpha-D-mannosidosis alpha-mannosidase deficiency deficiency of alpha-mannosidase	aman-1	180749	Caenorhabditis elegans	Alliance of Genome Resources
DOID:1338	congenital dyserythropoietic anemia Aliases: congenital dyshaematopoietic anaemia	aman-2	179632	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0110698	hypotrichosis 1 Aliases: Hhs Hts Hypt1 hereditary generalized hypotrichosis simplex	apcdd1	448576	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0110698	hypotrichosis 1 Aliases: Hhs Hts Hypt1 hereditary generalized hypotrichosis simplex	apcdd1.L	447402	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:2280	hidradenitis suppurativa Aliases: Acne inversa, familial	aph-2	172905	Caenorhabditis elegans	Alliance of Genome Resources
DOID:1289	neurodegenerative disease Aliases: degenerative disease	apl-1 ced-1 deg-1 eat-4 glr-1 glt-3 glt-4 mec-4 pkc-2 poml-1 ptc-1 ptc-3 tir-1 vglu-2 vglu-3	173064 173631 174274 175502 176204 176291 176441 176442 177882 180783 181035 181166 181728 187297 188744	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0080348	Alzheimer's disease 1 Aliases: Alzheimer's disease 1, early onset	apl-1 pxn-1 pxn-2	180783 181288 191484	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0050850	diabetic encephalopathy	apl-1	180783	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0070028	APP-related cerebral amyloid angiopathy Aliases: Amyloidosis, Cerebroarterial, App-Related Amyloidosis, Hereditary, With Cerebral Hemorrhage, Dutch Variant Cerebral Amyloid Angiopathy, App-Related, Arctic Variant Cerebral Amyloid Angiopathy, App-Related, Dutch Variant Cerebral Amyloid Angiopathy, App-Related, Flemish Variant Cerebral Amyloid Angiopathy, App-Related, Iowa Variant Cerebral Amyloid Angiopathy, App-Related, Italian Variant HCHWAD	apl-1	180783	Caenorhabditis elegans	Alliance of Genome Resources
DOID:1919	Lesch-Nyhan syndrome Aliases: Complete hypoxanthine-guanine phosphoribosyltransferase deficiency HG-PRT deficiency Hypoxanthine-guanine phosphoribosyltransferase deficiency Hypoxanthine-guanine-phosphoribosyltransferase deficiency Lesch - Nyhan syndrome X-linked hyperuricemia deficiency of IMP pyrophosphorylase hypoxanthine guanine phosphoribosyltransferase deficiency	aprt-1	172232	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0060350	adenine phosphoribosyltransferase deficiency Aliases: 2,8-dihydroxyadenine urolithiasis APRT deficiency	aprt-1	172232	Caenorhabditis elegans	Alliance of Genome Resources
DOID:1934	dysostosis	apx-1 efn-4	176882 178759	Caenorhabditis elegans	Alliance of Genome Resources

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