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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 **15526 - 15550** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism	Source
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:263	kidney cancer Aliases: malignant neoplasm of kidney except pelvis malignant tumour of kidney renal cancer	scrib	44448	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0060072	benign neoplasm	scrib	44448	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:8567	Hodgkin's lymphoma Aliases: HL Hodgkin disease Hodgkin lymphoma Hodgkin's sarcoma Hodgkins lymphoma stage I Subdiaphragmatic Hodgkin Lymphoma stage II Subdiaphragmatic Hodgkin Lymphoma	sdn-1	181259	Caenorhabditis elegans	Alliance of Genome Resources
DOID:104	bacterial infectious disease	sdn-1	181259	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0110633	rigid spine muscular dystrophy 1 Aliases: Eichsfeld type congenital muscular dystrophy MDRS1 RSMD1 RSS SEPN1-related myopathy classic MmD classic multiminicore disease classic multiminicore myopathy congenital merosin-positive muscular dystrophy with early spine rigidity desmin-related myopathy with Mallory bodies desmin-related myopathy with Mallory body-like inclusions early-onset desmin-related myopathy rigid spine syndrome severe classic form minicore myopathy severe classic form multicore myopathy severe classic form multiminicore disease	selenon	352914	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0110633	rigid spine muscular dystrophy 1 Aliases: Eichsfeld type congenital muscular dystrophy MDRS1 RSMD1 RSS SEPN1-related myopathy classic MmD classic multiminicore disease classic multiminicore myopathy congenital merosin-positive muscular dystrophy with early spine rigidity desmin-related myopathy with Mallory bodies desmin-related myopathy with Mallory body-like inclusions early-onset desmin-related myopathy rigid spine syndrome severe classic form minicore myopathy severe classic form multicore myopathy severe classic form multiminicore disease	selenon	394859	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0090080	hypogonadotropic hypogonadism 16 with or without anosmia	sema3aa sema3ab	30266 30267	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:13372	alpha 1-antitrypsin deficiency Aliases: AAT deficiency	serpine3	556612	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0081210	autosomal recessive intellectual developmental disorder 46	sfl	38736	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:303	substance-related disorder	sgg	31248	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0112219	developmental and epileptic encephalopathy 84 Aliases: DEE84 Jamuar syndrome early infantile epileptic encephalopathy 84	sgl	38760	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:4644	epidermolysis bullosa simplex	shot	36542	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0070151	hereditary sensory and autonomic neuropathy type 6 Aliases: HSAN6 hereditary sensory and autonomic neuropathy type VI	shot	36542	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0112228	lissencephaly 9 with complex brainstem malformation Aliases: LIS9 posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome	shot	36542	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:14735	hereditary angioedema Aliases: HANE Hereditary angioneurotic edema	si	797517	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:9277	primary cerebellar degeneration	sil1.L	414657	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:399	tuberculosis	skn-1 smf-1 smf-2 smf-3	177044 177343 180939 191766	Caenorhabditis elegans	Alliance of Genome Resources

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