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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 **13601 - 13625** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
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:0080455	developmental and epileptic encephalopathy 52 Aliases: DEE52 early infantile epileptic encephalopathy 52	SCN1B	6324	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080421	developmental and epileptic encephalopathy 11 Aliases: DEE11 early infantile epileptic encephalopathy 11	SCN2A	6326	Homo sapiens (human)	Alliance of Genome Resources
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:0080420	developmental and epileptic encephalopathy 62 Aliases: DEE62 early infantile epileptic encephalopathy 62	SCN3A	6328	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081424	familial focal epilepsy with variable foci 4	SCN3A	6328	Homo sapiens (human)	Alliance of Genome Resources
DOID:14451	hyperkalemic periodic paralysis Aliases: familial hyperkalemic periodic paralysis	SCN4A	6329	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081354	congenital myopathy 22A	SCN4A	6329	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081355	congenital myopathy 22B	SCN4A	6329	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110682	congenital myasthenic syndrome 16 Aliases: CMS16 congenital myasthenic syndrome acetazolamide-responsive	SCN4A	6329	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111538	paramyotonia congenita of Von Eulenburg Aliases: Eulenburg disease PMC Von Eulenburg paramyotonia congenita myotonia congenita intermittens paralysis periodica paramyotonica paramyotonia congenita	SCN4A	6329	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112150	X-linked spondyloepimetaphyseal dysplasia Aliases: SEMD X-linked SEMDX	BGN	633	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111861	Meester-Loeys syndrome Aliases: MRLS	BGN	633	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110651	long QT syndrome 10 Aliases: LQT10	SCN4B	6330	Homo sapiens (human)	Alliance of Genome Resources
DOID:9007	sudden infant death syndrome Aliases: Cot death Crib death SIDS Sudden death of nonspecific cause in infancy	SCN5A SLC6A4 VEGFA	6331 6532 7422	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110433	dilated cardiomyopathy 1E Aliases: CDCD2 CMD1E dilated cardiomyopathy with conduction defect 2 dilated cardiomyopathy with conduction disorder and arrhythmia	SCN5A	6331	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111074	progressive familial heart block type IA Aliases: PFHB1A	SCN5A	6331	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110218	Brugada syndrome 1 Aliases: BRGDA1	SCN5A	6331	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110646	long QT syndrome 3 Aliases: LQT3	SCN5A	6331	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080445	developmental and epileptic encephalopathy 13 Aliases: DEE13 early infantile epileptic encephalopathy 13	SCN8A	6334	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081118	benign familial infantile seizures 5 Aliases: Benign Familial Infantile Seizures, 5	SCN8A	6334	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111537	paroxysmal extreme pain disorder Aliases: PEPD PEXPD familial rectal pain submandibular, ocular and rectal pain with flushing	SCN9A	6335	Homo sapiens (human)	Alliance of Genome Resources
DOID:9240	erythromelalgia Aliases: erythermalgia	SCN9A	6335	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:0080527	bronchiectasis 2	SCNN1A	6337	Homo sapiens (human)	Alliance of Genome Resources

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