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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 **9201 - 9225** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:7004	ACTH-secreting pituitary adenoma Aliases: ACTH-Producing Pituitary Adenoma Corticotroph adenoma Corticotropinoma	Avpr1b Usp8	26361 84092	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:8683	myeloid sarcoma Aliases: Chloroma Extramedullary Myeloid tumor Granulocytic sarcoma	Kras Pdgfra	16653 18595	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111480	combined oxidative phosphorylation deficiency 10 Aliases: COXPD10 infantile hypertrophic mitochondrial cardiomyopathy and lactic acidosis mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	Mto1	68291	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9268	glycine encephalopathy Aliases: Non-ketotic hyperglycinemia nonketotic hyperglycinemia	Gldc	104174	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080176	meningococcal meningitis	Cd46 Marco Mmp13 Mmp9 Tlr2 Tlr4	17167 17221 17386 17395 21898 24088	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081342	congenital myopathy 8	Actn2	11472	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:11870	Pick's disease Aliases: Dementia in Pick's disease LOBAR ATROPHY OF BRAIN PICK DISEASE OF BRAIN Pick disease	Atf2 Fos Hnmt Map4 Mapt Snca Sncb	104069 11909 140483 14281 17758 17762 20617	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070205	familial partial lipodystrophy type 4 Aliases: FPLD4 PLIN1-related FPLD PLIN1-related familial partial lipodystrophy familial partial lipodystrophy associated with PLIN1 mutations	Plin1	103968	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080414	developmental and epileptic encephalopathy 15 Aliases: DEE15 early infantile epileptic encephalopathy 15	St3gal3	20441	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1391	Norum disease Aliases: LECITHIN CHOLESTEROL ACYLTRANSFERASE DEFICIENCY lecithin acyltransferase deficiency	Lcat	16816	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111584	dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome Aliases: Malouf syndrome Najjar syndrome cardiogenital syndrome cardiomyopathy eith primary testicular failure congestive cardiomyopathy with hypergonadotropic hypogonadism dilated cardiomyopathy with hypergonadotropic hypogonadism dilated cardiomyopathy with premature ovarian failure genital anomaly with cardiomyopathy	Lmna	16905	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:11569	neurocirculatory asthenia Aliases: Cardiovascular malfunction arising from mental factors Cardiovascular neurosis Da Costa's syndrome Krishaber's disease	Slc6a2	20538	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:10754	otitis media	Bpifa1 Btc Ctsb Ctsk Ctsl Dnah5 Enpp1 Eya4 Fgfr1 Icam1 Idua Ifng Il10 Il1a Lmna Mbl2 Muc1 Muc4 Muc5ac Muc5b Naglu Nisch Phex Rela Sall4 Scn2b Sh3pxd2b Tlr2 Tlr4 Tnf	110082 12223 13030 13038 13039 140474 14051 14182 15894 15932 15978 16153 16175 16905 17195 17829 17833 18605 18675 18843 19697 21898 21926 24088 268396 27419 64652 72821 74180 99377	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110673	congenital myasthenic syndrome 19 Aliases: CMS19	Col13a1	12817	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:11633	thyroid hormone resistance syndrome Aliases: Generalized thyroid hormone resistance Refetoff syndrome Thyroid hormone responsiveness defect thyroid hormone resistance	Ncoa1	17977	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:648	kuru Aliases: kuru encephalopathy	Prnp	19122	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070091	schizophrenia 15 Aliases: SCZD15	Shank3	58234	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110777	hereditary spastic paraplegia 26 Aliases: GM2 synthase deficiency SPG26 autosomal recessive spastic paraplegia 26 autosomal recessive spastic paraplegia type 26	B4galnt1	14421	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1928	Williams-Beuren syndrome Aliases: Fanconi Schlesinger syndrome WBS	Clip2 Dlg4 Fzd3 Fzd9 Limk1 Lox Src	13385 14365 14371 16885 16948 20779 269713	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:4441	dysgerminoma	Amhr2 Fgfr2 Inha Kit Pou5f1 St14	110542 14183 16322 16590 18999 19143	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:10952	nephritis	Ace Agtr1a Ccl2 Cxcr2 Foxc2 Icam1 Ifng Il4 Itga4 Itgal Itgb2 Itgb2l Nos3	11421 11607 12765 14234 15894 15978 16189 16401 16408 16414 16415 18127 20296	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060473	Kabuki syndrome Aliases: KMS Kabuki make up syndrome Niikawa-Kuroki syndrome	Kdm6a	22289	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060691	platelet-type bleeding disorder 16 Aliases: autosomal dominant Glanzmann thrombasthenia autosomal dominant thrombasthenia of Glanzmann and Naegeli	Itga2b Itgb3	16399 16416	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:178	vascular disease Aliases: vascular tissue disease	Adipoq Cps1 Il1rn Timp1	11450 16181 21857 227231	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050679	blue cone monochromacy	Opn1mw	14539	Mus musculus (house mouse)	Alliance of Genome Resources

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