GlyCosmos Portal

Table Filtering

Disease ID

Disease Name

Gene Symbol

Gene ID

Organism

Source

Display
results per page.

Clear

Submissions

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 **4626 - 4649** of **4649** in total

« First

‹ Prev

…

182

183

184

185

186
Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0110965	brachydactyly type A2 Aliases: BDA2 Mohr-Wriedt type brachydactyly brachymesophalangy II	BMP2 BMPR1B CDK7 GDF5	1022 650 658 8200	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070072	autosomal dominant intellectual developmental disorder 42 Aliases: MRD42 autosomal dominant mental retardation 42 autosomal dominant non-syndromic intellectual disability 42	GNB1	2782	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050777	Joubert syndrome Aliases: JBTS	ARL3 CC2D2A IFT74 INPP5E	403 56623 57545 80173	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111160	camptodactyly-tall stature-scoliosis-hearing loss syndrome Aliases: CATSHL syndrome	FGFR3	2261	Homo sapiens (human)	Alliance of Genome Resources
DOID:4202	brain stem glioma Aliases: Brainstem Neuroglial tumor	PDGFRA	5156	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060713	autosomal recessive congenital ichthyosis 4B Aliases: ARCI4B harlequin ichthyosis harlequin type ichthyosis congenita harlequin type ichthyosis fetalis	ABCA12 CST6 PIGA PRSS8	1474 26154 5277 5652	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081348	congenital myopathy 16	MYBPC1	4604	Homo sapiens (human)	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	SLC13A5	284111	Homo sapiens (human)	Alliance of Genome Resources
DOID:10824	malignant hypertension	ADM	133	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070145	hereditary sensory and autonomic neuropathy type 5 Aliases: HSAN5 hereditary sensory and autonomic neuropathy type V	NGF	4803	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110245	cataract 38 Aliases: CATC5 CTRCT38 autosomal recessive congenital cataract 5	AGK	55750	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080319	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia Aliases: XMEN	MAGT1	84061	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110680	congenital myasthenic syndrome 2C Aliases: CMS2C congenital myasthenic syndrome 2C associated with acetylcholine receptor deficiency	CHRNB1	1140	Homo sapiens (human)	Alliance of Genome Resources
DOID:8622	measles Aliases: morbilli	B2M MUC1	4582 567	Homo sapiens (human)	Alliance of Genome Resources
DOID:13336	congenital toxoplasmosis Aliases: Toxoplasmosis - congen.	HLA-DQA1	3117	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111113	nephronophthisis 2 Aliases: NPH2 NPHP2 infantile nephronophthisis 2	INVS	27130	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050648	atelosteogenesis	FLNB SLC26A2	1836 2317	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:12803	Sly syndrome Aliases: MPS VII - Sly syndrome beta-glucuronidase deficiency deficiency of beta-glucuronidase mucopolysaccharidosis VII	GUSB	2990	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0081333	Wiedemann-Rautenstrauch syndrome Aliases: Neonatal progeroid syndrome PROGEROID SYNDROME, NEONATAL	POLR3A	11128	Homo sapiens (human)	Alliance of Genome Resources
DOID:9637	stomatitis	CAT	847	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112348	hereditary spastic paraplegia 78 Aliases: SPG78 spastic paraplegia 78 autosomal recessive	ATP13A2	23400	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060335	autosomal dominant sideroblastic anemia 4	HSPA9	3313	Homo sapiens (human)	Alliance of Genome Resources
DOID:8472	localized scleroderma Aliases: Morphea Scleroderma, circumscribed or localised Scleroderma, circumscribed or localized circumscribed scleroderma localised morphea localised morphoea localised scleroderma localized morphea	HGF ICAM1 IL13 MMP1 TGFB1	3082 3383 3596 4312 7040	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110347	osteogenesis imperfecta type 15 Aliases: OI15 osteogenesis imperfecta type XV	WNT1	7471	Homo sapiens (human)	Alliance of Genome Resources

Download data in CSV format Download data in TSV format Download data in JSON format

Table Filtering

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

All Resources

Other Information

Tools

Search Tools

International Collaboration

Acknowledgements