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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 **5151 - 5175** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism	Source
DOID:0080415	developmental and epileptic encephalopathy 23 Aliases: DEE23 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome Epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome early infantile epileptic encephalopathy 23	DOCK7	85440	Homo sapiens (human)	Alliance of Genome Resources
DOID:104	bacterial infectious disease	DOCK8 HLA-DQB1 HLA-DRB1 IL10 IL2 MAGT1 MBL2 RELA RELB SDC4 SLC35A2 TUSC3	3119 3123 3558 3586 4153 5970 5971 6385 7355 7991 81704 84061	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080594	hyper IgE recurrent infection syndrome 2	DOCK8	81704	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090110	immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome Aliases: Autoimmune enteropathy type 1 DMSD IDDM-secretory diarrhea syndrome IPEX X-linked autoimmunity-allergic dysregulation syndrome XLAAD XPID autoimmunity-immunodeficiency syndrome, X-linked diabetes mellitus, congenital insulin-dependent, with fatal secretory diarrhea diarrhea, polyendocrinopathy, fatal infection syndrome, X-linked immunodeficiency, polyendocrinopathy, and enteropathy, X-linked immunodysregulation, polyendocrinopathy, and enteropathy, X-Linked	DOCK8	81704	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110668	congenital myasthenic syndrome 10 Aliases: CMS10 LGM congenital muscular dystrophy merosin-positive familial limb-girdle myasthenia	DOK7	285489	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111376	fetal akinesia deformation sequence syndrome 3 Aliases: FADS3	DOK7	285489	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080565	congenital disorder of glycosylation Im Aliases: DOLK-congenital disorder of glycosylation congenital disorder of glycosylation 1m dolichol kinase deficiency	DOLK	22845	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0110425	dilated cardiomyopathy 1A Aliases: CDCD1 dilated cardiomyopathy with conduction defect 1 familial dilated cardiomyopathy with conduction defect due to LMNA mutation	DOT1L LMNA LMNB1 LMNB2	4000 4001 84444 84823	Homo sapiens (human)	Alliance of Genome Resources
DOID:9953	acute biphenotypic leukemia Aliases: mixed phenotype acute leukemia	DOT1L	84444	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080562	congenital disorder of glycosylation Ij Aliases: Congenital disorder of glycosylation 1j	DPAGT1	1798	Homo sapiens (human)	Glyco-Disease Genes Database 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	DPAGT1	1798	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070478	diphthamide deficiency syndrome 2 Aliases: DEDSSH2 developmental delay with short stature, dysmorphic facial features, and sparse hair 2	DPH2	1802	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070476	diphthamide deficiency syndrome Aliases: DEDSSH craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome developmental delay with short stature, dysmorphic facial features, and sparse hair	DPH2	1802	Homo sapiens (human)	Alliance of Genome Resources
DOID:1184	nephrotic syndrome	DPL1 ECM14 GPX1 GPX2 PAN1	851888 852546 853842 854822 856533	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0080265	nephrotic syndrome type 14	DPL1	851888	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0080557	congenital disorder of glycosylation Ie Aliases: congenital disorder of glycosylation 1e	DPM1	856313	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0080557	congenital disorder of glycosylation Ie Aliases: congenital disorder of glycosylation 1e	DPM1	8813	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0080571	congenital disorder of glycosylation Iu Aliases: congenital disorder of glycosylation 1u	DPM2	8818	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112376	muscular dystrophy-dystroglycanopathy type B15 Aliases: MDDGB15 congenital muscular dystrophy DPM3-related	DPM3	54344	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080642	Middle East respiratory syndrome	DPP4	1803	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070063	autosomal dominant intellectual developmental disorder 33 Aliases: MRD33 autosomal dominant mental retardation 33 autosomal dominant non-syndromic intellectual disability 33	DPP6	1804	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111156	spermatogenic failure 9 Aliases: globozoospermia male infertility due to round-headed spermatozoa	DPY19L2	283417	Homo sapiens (human)	Alliance of Genome Resources
DOID:14218	dihydropyrimidine dehydrogenase deficiency Aliases: Dihydrouracil Dehydrogenase deficiency familial pyrimidinaemia thymine-uracilurea	DPYD	1806	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110596	primary ciliary dyskinesia 21 Aliases: CILD21 primary ciliary dyskinesia 21 without situs inversus	DRC1	92749	Homo sapiens (human)	Alliance of Genome Resources
DOID:3227	tracheal stenosis Aliases: Stenosis of trachea	DRD1 TGFB1	1812 7040	Homo sapiens (human)	Alliance of Genome Resources

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