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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 **6701 - 6725** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0080045	Kniest dysplasia	COL2A1	1280	Homo sapiens (human)	Alliance of Genome Resources
DOID:854	collagen disease Aliases: collagen disorder	VPS1	853870	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:8791	breast carcinoma in situ Aliases: Non-Infiltrating carcinoma of breast carcinoma in situ of breast	IGF2R	3482	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080135	multiple mitochondrial dysfunctions syndrome 3 Aliases: IBA57 deficiency	IBA57	200205	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110857	posterior polymorphous corneal dystrophy 3 Aliases: Ppcd3	ZEB1	6935	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080832	mild cognitive impairment	dat-1	176304	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0112002	immunodeficiency 47 Aliases: CDG IIs CDG2S CDGIIs IMD47 congenital disorder of glycosylation type IIs immunodeficiency and hepatopathy with or without neurologic features	Atp6ap1	83615	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060850	annular pancreas	gdf3	30125	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:2224	essential thrombocythemia Aliases: Essential thrombocythaemia familial thrombocytosis hemorrhagic thrombocythemia hereditary thrombocythemia primary Thrombocytosis	Cd40lg Thpol1 Vcam1	25361 81811 84349	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:9279	hyperhomocysteinemia	Ahcy Ahcyl Atp1a1 Atp1a2 Bche Ccl2 Ece1 Ednra F10 F12 F2 F8 G6pd2 G6pdx Gpx1 Gria1 Grin2a Grin2b Icam1 Ngf Sod2	11615 11928 12038 13617 14058 14061 14069 14380 14381 14775 14799 14811 14812 15894 18049 20296 20656 230857 269378 58992 98660	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112358	short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies Aliases: SSFSC	Scube3	268935	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:8632	Kaposi's sarcoma Aliases: Kaposi sarcoma Kaposi's sarcoma of Heart Kaposi's sarcoma of anus Kaposi's sarcoma of central nervous system Kaposi's sarcoma of conjunctiva Kaposi's sarcoma of cornea Kaposi's sarcoma of esophagus Kaposi's sarcoma of gastrointestinal sites Kaposi's sarcoma of lung Kaposi's sarcoma of lymph nodes Kaposi's sarcoma of palate Kaposi's sarcoma of penis Kaposi's sarcoma of skin Kaposi's sarcoma of soft tissue Kaposi's sarcoma of soft tissues Kaposi's sarcoma of the CNS Kaposi's sarcoma of the gallbladder Kaposi's sarcoma of the prostate Kaposi's sarcoma, lung Kaposi's sarcoma, skin anal Kaposi's sarcoma cardiac Kaposi's sarcoma central nervous system Kaposi's sarcoma conjunctival Kaposi's sarcoma corneal Kaposi's sarcoma cutaneous Kaposi's sarcoma esophageal Kaposi's sarcoma gallbladder Kaposi's sarcoma gastric Kaposi's sarcoma intestinal Kaposi's sarcoma lymph node Kaposi's sarcoma lymphadenopathic Kaposi's sarcoma palate Kaposi's sarcoma penis Kaposi's sarcoma prostate Kaposi's sarcoma pulmonary Kaposi's sarcoma soft tissue Kaposi's sarcoma	Fgfr2	14183	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:4479	pseudohypoaldosteronism	CUL3 NR3C2 SCNN1A SCNN1B SCNN1G WNK1 WNK2 WNK3	4306 6337 6338 6340 65125 65267 65268 8452	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060072	benign neoplasm	DLG1 LATS1 LATS2 SCRIB	1739 23513 26524 9113	Homo sapiens (human)	Alliance of Genome Resources
DOID:870	neuropathy Aliases: peripheral neuropathy	CTSS MPZ NEMF NRG1 YARS1	1520 3084 4359 8565 9147	Homo sapiens (human)	Alliance of Genome Resources
DOID:1926	Gaucher's disease Aliases: Gaucher disease acid beta-glucosidase deficiency glocucerebrosidase deficiency glucosylceramide beta-glucosidase deficiency kerasin thesaurismosis	PYK2	854529	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0110589	autosomal dominant nonsyndromic deafness 68 Aliases: DFNA68 autosomal dominant deafness 68	HOMER2	9455	Homo sapiens (human)	Alliance of Genome Resources
DOID:8437	intestinal obstruction	HFE IL10 PTGS2	3077 3586 5743	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080313	cleft palate-lateral synechia syndrome Aliases: CPLS syndrome syngnathia	BMP4	652	Homo sapiens (human)	Alliance of Genome Resources
DOID:2959	hyperimmunoglobulin syndrome	CD40	958	Homo sapiens (human)	Alliance of Genome Resources
DOID:11049	meconium aspiration syndrome Aliases: Neonatal aspiration of meconium meconium aspiration	Agtr2 Atf2	11609 11909	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070264	congenital disorder of glycosylation type IIl Aliases: CDG IIl CDG syndrome type IIL CDG2L CDGIIdl COG6-CGD Congenital disorder of glycosylation type 2l	COG6	57511	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:264	hemangiopericytoma Aliases: Haemangiopericytic meningioma hemangiopericytoma, malignant malignant hemangiopericytoma	Dll4 Ephb4 Kdr Notch1 Notch4	13846 16542 18128 18132 54485	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:5425	ovarian hyperstimulation syndrome Aliases: secondary Meig's syndrome	dop-2 ver-1 ver-4	175182 179347 186632	Caenorhabditis elegans	Alliance of Genome Resources
DOID:3146	lipid metabolism disorder Aliases: dyslipidemia fatty acid metabolism disorder	Cpt1a Cpt2 Hadha Hadhb Lep Npy5r Ppara	170670 171155 25340 25413 25608 25747 25757	Rattus norvegicus (Norway rat)	Alliance of Genome Resources

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