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 **5251 - 5275** of **15957** in total

« First

‹ Prev

…

207

208

209

210

211

212

213

214

215

…

Next ›

Last »
Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism	Source
DOID:0081116	benign familial infantile seizures 3 Aliases: Benign Familial Infantile Seizures, 3 benign familial neonatal-infantile seizures	SCN2A	6326	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110222	Brugada syndrome 5 Aliases: BRGDA5	SCN1B	6324	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080455	developmental and epileptic encephalopathy 52 Aliases: DEE52 early infantile epileptic encephalopathy 52	SCN1B	6324	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111302	generalized epilepsy with febrile seizures plus 1 Aliases: GEFS+1 GEFSP1 generalised epilepsy with febrile seizures plus 1 generalised epilepsy with febrile seizures plus type 1 generalized epilepsy with febrile seizures plus type 1	SCN1B	6324	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070379	developmental and epileptic encephalopathy 6B Aliases: DEE6B	SCN1A	6323	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111183	familial hemiplegic migraine 3 Aliases: FHM3 MHP3	SCN1A	6323	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070149	hereditary sensory and autonomic neuropathy type 7 Aliases: HSAN7 hereditary sensory and autonomic neuropathy type VII	SCN11A	11280	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111731	familial episodic pain syndrome 3 Aliases: FEPS3	SCN11A	11280	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111730	familial episodic pain syndrome 2 Aliases: FEPS2	SCN10A	6336	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111294	generalized epilepsy with febrile seizures plus 2 Aliases: GEFS+2 GEFSP2 generalised epilepsy with febrile seizures plus 2 generalised epilepsy with febrile seizures plus type 2 generalized epilepsy with febrile seizures plus type 2	SCN10A SCN11A SCN1A SCN2A SCN3A SCN4A SCN5A SCN7A SCN8A SCN9A	11280 6323 6326 6328 6329 6331 6332 6334 6335 6336	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080422	Dravet syndrome Aliases: DEE6 DEE6A developmental and epileptic encephalopathy 6 developmental and epileptic encephalopathy 6A early infantile epileptic encephalopathy 6 severe myoclonic epilepsy of infancy	SCN10A SCN11A SCN1A SCN2A SCN3A SCN4A SCN5A SCN7A SCN8A SCN9A	11280 6323 6326 6328 6329 6331 6332 6334 6335 6336	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112160	autosomal dominant nonsyndromic deafness 79 Aliases: DFNA79	SCD5	79966	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111699	Van den Ende-Gupta syndrome Aliases: Marden-Walker-like syndrome Marden-Walker-like syndrome without psychmotor retardation VDEGS blepharophimosis, arachnodactyly, and congenital contractures	SCARF2	91179	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111444	progressive myoclonus epilepsy 4 Aliases: AMRF EPM4 Myoclonus-nephropathy syndrome action myoclonus-renal failure syndrome	SCARB2	950	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060428	SATB2-associated syndrome Aliases: 2q32-q33 microdeletion syndrome 2q32q33 microdeletion syndrome Glass syndrome chromosome 2q32-q33 deletion syndrome monosomy 2q32 monosomy 2q32-q33 monosomy 2q32q33	SATB2	23314	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110213	isolated cleft palate	SATB2	23314	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070279	primary autosomal recessive microcephaly 14 Aliases: MCPH14	SASS6	163786	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112307	sarcosinemia Aliases: SARCOS SARD deficiency SARDH deficiency demethylation defect of N-methylglycine sarcosine dehydrogenase complex deficiency	SARDH	1757	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060386	Chilblain lupus	SAMHD1	25939	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080170	normophosphatemic familial tumoral calcinosis	SAMD9	54809	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111381	IVIC syndrome Aliases: Instituto Venezolano de Investigaciones Cientificas syndrome OORS Oculootoradial syndrome oculo-oto-radial syndrome radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia	SALL4	57167	Homo sapiens (human)	Alliance of Genome Resources
DOID:2156	ovarian germ cell cancer Aliases: germ cell neoplasm of Ovary germ cell tumor of ovary	SALL4	57167	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060468	Holt-Oram syndrome Aliases: atrio-digital syndrome atriodigital dysplasia heart-hand syndrome	SALL4	57167	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060747	Duane-radial ray syndrome Aliases: DR syndrome Duane anomaly with radial ray abnormalities and deafness Okihiro syndrome acrorenocular syndrome	SALL4	57167	Homo sapiens (human)	Alliance of Genome Resources
DOID:12557	Duane retraction syndrome Aliases: Duane's syndrome Stilling-Turk-Duane syndrome	SALL4	57167	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