GlyCosmos Portal

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

Displaying entries **4151 - 4175** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0110291	Leber congenital amaurosis 10 Aliases: LCA10	Cep290	216274	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080297	Coffin-Siris syndrome 6	Arid2	77044	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1205	allergic disease Aliases: allergic hypersensitivity disease hypersensitivity hypersensitivity reaction type I disease	Ace Akr1b1 Arhgap28 Cd14 Cysltr1 Fcgr4 H2-Aa H2-Ab1 H2-Ea H2-Eb1 Icam1 Il13 Lta	100504404 11421 11677 12475 14960 14961 14969 15894 16163 16992 246256 268970 58861	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060768	Smith-Magenis syndrome Aliases: 17p11.2 microdeletion syndrome chromosome 17p11.2 deletion syndrome	Mfap4 Rai1	19377 76293	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111553	spondyloepiphyseal dysplasia Maroteaux type Aliases: Brachyolmia Type 2 Pseudo-Morquio syndrome type 2 SED, Maroteaux type spondyloepiphyseal dysplasia of Maroteaux	Trpv4	63873	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080154	short chain acyl-CoA dehydrogenase deficiency	Acads	11409	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2352	hemochromatosis Aliases: Haemochromatosis diabetes bronze iron storage disorder	Hfe Hjv Tfr2 Tnf	15216 21926 50765 69585	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111847	osteogenesis imperfecta type 19 Aliases: OI19 osteogenesis imperfecta type XIX	Mbtps2	270669	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050752	amyotrophic lateral sclerosis type 8 Aliases: ALS8 amyotrophic lateral sclerosis 8	Vapa	30960	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9164	achalasia Aliases: Lack of reflex relaxation of lower oesophageal sphincter achalasia of cardia achalasia of esophagus cardiospasm esophageal achalasia hypertensive lower esophageal sphincter	H2-Aa H2-Ab1 Lmna Spry2 Vipr1	14960 14961 16905 22354 24064	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:13482	Proteus syndrome Aliases: Wiedemann's syndrome	Akt1	11651	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080591	Klippel-Feil syndrome 3	Gdf3	14562	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:811	lipodystrophy	Bscl2 Ccl2 Ebf1 Lmna Pparg	13591 14705 16905 19016 20296	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:11252	microcytic anemia	Dnm1 Dnm2 Dnm3 Tmprss6	103967 13429 13430 71753	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:8805	intermediate coronary syndrome Aliases: Angina at rest Anginal chest pain at rest Impending infarction Preinfarction angina Unstable angina Worsening angina	Ace Agtr1a Agtr1b Akt1 Bdnf F7 Hmgcr Itga2 Itgam Itih4 Mmp1a Selp Serpinc1 Sod3	11421 11607 11608 11651 11905 12064 14068 15357 16398 16409 16427 20344 20657 83995	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050452	mevalonic aciduria Aliases: Mevalonate Kinase Deficiency	Tnf	21926	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080352	X-linked chondrodysplasia punctata 2 Aliases: Conradi-Hunermann Syndrome Happle syndrome	Ebp	13595	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060264	pontocerebellar hypoplasia Aliases: PCH	Toe1	68276	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2121	ectodermal dysplasia Aliases: Congenital ectodermal defect Congenital ectodermal dysplasia	Gjb6 Nectin1 Pkp1 Wnt10a	14623 18772 22409 58235	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080500	ovarian dysgenesis 8	Esr2	13983	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110937	autosomal dominant osteopetrosis 1 Aliases: OPTA1 autosomal dominant osteopetrosis type 1	Lrp5	16973	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060900	Parkinson's disease 14 Aliases: Dystonia-Parkinsonism Adult-Onset autosomal recessive Parkinson disease 14 autosomal recessive Parkinson's disease 14	Pla2g6	53357	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:4667	kyphosis Aliases: Kyphosis deformity of spine	Elp1	230233	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:10976	membranous glomerulonephritis Aliases: membranous nephropathy	A2m Abca1 C3 C7 Cd40 Cfb Cfh Cfhr4 H2-Aa Lrp2 Lrpap1 Mme Mmp9 Nphs1 Ptpru Shh Sparc Trf	109828 11303 12266 12628 14725 14960 14962 16976 17380 17395 19273 20423 20692 214403 21939 22041 232345 54631	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110167	Charcot-Marie-Tooth disease axonal type 2K Aliases: ARCMT2K Charcot-Marie-Tooth neuropathy axonal type 2K autosomal recessive Charcot-Marie-Tooth disease with hoarseness autosomal recessive axonal CMT4C4 autosomal recessive axonal Charcot-Marie-Tooth disease disease type 2K autosomal recessive axonal Charcot-Marie-Tooth disease type 2K	Jph1	57339	Mus musculus (house mouse)	Alliance of Genome Resources

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