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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 **13201 - 13225** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:0070132	autosomal recessive cutis laxa type IIIA Aliases: ARCL3A De Barsy syndrome A	Aldh18a1	56454	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1283	enterocele Aliases: vaginal enterocele	Aldh18a1	56454	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110824	hereditary spastic paraplegia 9A Aliases: AD-SPG9A Cataracts motor neuropathy-short stature-skeletal anomalies syndrome SPG9A autosomal dominant complex spastic paraplegia type 9A autosomal dominant spastic paraplegia 9A cataracts with motor neuronopathy, short stature and skeletal abnormalities spastic paraparesis with amyopathy, cataracts and gastroesophageal reflux spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome	Aldh18a1	56454	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:4051	alveolar rhabdomyosarcoma Aliases: alveolar childhood rhabdomyosarcoma	Foxo1	56458	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110727	neuronal ceroid lipofuscinosis 13 Aliases: CLN13 neuronal ceroid lipofuscinosis 13 Kufs type	Ctsf	56464	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080237	autosomal dominant intellectual developmental disorder 46 Aliases: autosomal dominant mental retardation 46	KCNQ5	56479	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060575	3MC syndrome 1	MASP1	5648	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060751	familial temporal lobe epilepsy 7 Aliases: ETL7	RELN	5649	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060902	Norman-Roberts syndrome Aliases: lissencephaly 2 lissencephaly syndrome, Norman-Roberts type	RELN	5649	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	scn4aa scn4ab	564977 572442	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0081355	congenital myopathy 22B	scn4aa scn4ab	564977 572442	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0110682	congenital myasthenic syndrome 16 Aliases: CMS16 congenital myasthenic syndrome acetazolamide-responsive	scn4aa scn4ab	564977 572442	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0081354	congenital myopathy 22A	scn4aa scn4ab	564977 572442	Danio rerio (zebrafish)	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	scn4aa scn4ab	564977 572442	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0060170	generalized epilepsy with febrile seizures plus Aliases: GEFS+	scn4aa scn4ab	564977 572442	Danio rerio (zebrafish)	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	scn4aa scn4ab	564977 572442	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:14451	hyperkalemic periodic paralysis Aliases: familial hyperkalemic periodic paralysis	scn4aa scn4ab	564977 572442	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0111667	enterokinase deficiency Aliases: congenital enterokinase deficiency congenital enteropathy due to enteropeptidase deficiency deficiency of enteropeptidase	TMPRSS15	5651	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050671	female breast cancer	Mast1	56527	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111403	mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations Aliases: MCCCHCM	Mast1	56527	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112315	brain small vessel disease 3 Aliases: BSVD3	colgalt1a colgalt1b	565862 567859	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0050848	obstructive sleep apnea Aliases: obstructive sleep apnea syndrome	ace ngfb	565980 58133	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:783	end stage renal disease Aliases: end stage renal failure end-stage kidney disease	ace ngfb	565980 58133	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0050851	glomerulosclerosis	ace	565980	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:11400	pyelonephritis	ace	565980	Danio rerio (zebrafish)	Alliance of Genome Resources

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