GlyCosmos Portal

Source	Last Updated
Alliance of Genome Resources	October 9, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **1076 - 1100** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0111717	isolated cryptophthalmia Aliases: CRYPTOP unilateral or bilateral isolated cryptophthalmos	Frem2	242022	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081224	autosomal recessive intellectual developmental disorder 63	CAMK2A	815	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050877	pancreatic agenesis Aliases: Agenesis of the dorsal pancreas partial pancreatic agenesis	Pdx1	18609	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1587	thrombocytopenia due to platelet alloimmunization Aliases: Auto-immune thrombocytopenia Immune thrombocytopenia Thrombocytopenia Due to Immune Destruction	FCGR3A	2214	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050908	myelodysplastic syndrome	ARPC1B ASXL1 BAP1 CD40 CDKN1B CREBBP CSF3R DDX42 EGR1 EZH2 FAS FASLG FCGR3A GATA2 GNB1 HFE IDH1 ITGB3 KDM1A MACROH2A1 MDM2 MEFV MYBL2 NPM1 NRAS PLCB1 PRPF8 SAMD9L SF3B1 SLC22A5 SRSF11 TERT TET2 TNF TP53 XRCC1 ZRSR2	10095 1027 10594 11325 1387 1441 171023 1958 2146 219285 2214 23028 23236 23451 2624 2782 3077 3417 355 356 3690 4193 4210 4605 4869 4893 54790 6584 7015 7124 7157 7515 8233 8314 9295 9555 958	Homo sapiens (human)	Alliance of Genome Resources
DOID:11727	facioscapulohumeral muscular dystrophy Aliases: Landouzy Dejerine muscular dystrophy Landouzy-Dejerine muscular dystrophy Muscular dystrophy, Landouzy-Dejerine	FAT1 LARGE1	2195 9215	Homo sapiens (human)	Alliance of Genome Resources
DOID:8483	retinal artery occlusion	Il10	25325	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:707	B-cell lymphoma Aliases: B-cell lymphocytic neoplasm	Abcg2 Btk Cd40 Ezh2 Il21r	12229 14056 21939 26357 60504	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1724	duodenal ulcer Aliases: Curling Ulcer Curling's ulcers Stress Ulcer	cftr vegfaa	30682 559080	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0110316	hypertrophic cardiomyopathy 10 Aliases: CMH10 cardiomyopathy, familial hypertrophic, 10	Myl2	363925	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:11339	pneumocystosis Aliases: Pneumocystis carinii pneumonia Pneumocystis jirovecii pneumonia Pneumocystis pneumonia Pneumocystosis pneumonia pulmonary pneumocystosis	C3 CCL2 CSF2 HLA-DQB1 HLA-DQB2 MUC1 NOS2	1437 3119 3120 4582 4843 6347 718	Homo sapiens (human)	Alliance of Genome Resources
DOID:633	myositis Aliases: Inflammatory disorder of muscle	Fcgr3a Hgf Il1rn Tnf	24446 24835 304966 60582	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080572	congenital disorder of glycosylation Iw Aliases: congenital disorder of glycosylation 1w	stt3a.L stt3a.S	399234 779022	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0111402	mucopolysaccharidosis type IIID Aliases: GNS deficiency MPS IIID MPS3D Mucopolysaccharidosis type 3D N-acetylglucosamine-6-sulfatase deficiency Sanfilippo syndrome D Sanfilippo syndrome type D	GNS SGSH	2799 6448	Homo sapiens (human)	Glyco-Disease Genes Database Glyco-Disease Genes Database Alliance of Genome Resources
DOID:14323	Marfan syndrome Aliases: Marfan's syndrome	Acvr2a Acvr2b Bmp2 Bmp6 Mmp12 Mmp2 Tgfbr2	117033 25366 25644 29263 29373 81686 81810	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:13603	obstructive jaundice Aliases: Cholestatic Jaundice Cholestatic jaundice syndrome Obstructive hyperbilirubinemia	C06G1.1 cfh-1	181720 185381	Caenorhabditis elegans	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:0110337	osteogenesis imperfecta type 7 Aliases: OI7 osteogenesis imperfecta type VII	Y73F8A.26	178435	Caenorhabditis elegans	Alliance of Genome Resources
DOID:11198	DiGeorge syndrome Aliases: 22q11.2 deletion syndrome DiGeorge sequence DiGeorge's syndrome Pharyngeal pouch syndrome	Chrd Crkl Dvl1 Ess2 Fgf8 Mrpl40 Ndst1 Plxnd1 Tgfbr2 Vegfa	12667 12929 13542 14179 15531 18100 21813 22339 27886 67784	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050694	Brown-Vialetto-Van Laere syndrome	Slc52a2 Slc52a3	311536 362942	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060812	syndromic X-linked intellectual disability Siderius type Aliases: MRXSSD Siderius X-linked mental retardation syndrome Siderius-Hamel syndrome mental retardation syndrome, X-linked, Siderius type	PHF8	23133	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110647	long QT syndrome 5 Aliases: LQT5	Kcne1	16509	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081163	dilated cardiomyopathy 2G	LMOD2	442721	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070195	X-linked chronic granulomatous disease Aliases: CDGX X-linked chronic cytochrome b-negative granulomatous disease	CYBB	1536	Homo sapiens (human)	Alliance of Genome Resources
DOID:934	viral infectious disease Aliases: Viral Infection Viral disease virus infection	Ccl7 Cd46 Cebpb Ehmt1 Il15 Ptprq	12608 16168 17221 20306 237523 77683	Mus musculus (house mouse)	Alliance of Genome Resources

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