GlyCosmos Portal

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

Displaying entries **9401 - 9425** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0111128	focal segmental glomerulosclerosis 1 Aliases: FSGS1	ace	565980	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0080954	arthrogryposis multiplex congenita	SYNE1 VPS33B	23345 26276	Homo sapiens (human)	Alliance of Genome Resources
DOID:14115	toxic shock syndrome Aliases: TSS toxic shock	A2m Ace Adrb2 Cckbr Ccl2 Cd274 Elane Eno2 F2 H2-Ea H2-Eb1 Hspa1a Ifng Il10 Il19 Il1rn Mbl2 Mc2r Pdcd1 Proc Ptx3 Ren1 Sell Serpinc1 Serpinf1 Serping1 Sftpb Tbxa2r Tfpi Thpo Tnf Trem1	100504404 11421 11555 11905 12258 12426 13807 14061 14969 15978 16153 16181 17195 17200 18566 19123 19288 193740 19701 20296 20317 20343 20388 21390 21788 21832 21926 232345 329244 50701 58217 60533	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080101	Compton-North congenital myopathy Aliases: congenital myopathy 12	Cntn1	12805	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060848	developmental and epileptic encephalopathy 9 Aliases: DEE9 EFMR EIEE9 Juberg Hellman syndrome early infantile epileptic encephalopathy 9 early infantile female-limited epilecptic encephalopathy female restricted epilepsy with mental retardation	pcdh19	555688	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:11206	opioid abuse	ncam-1	180418	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0110223	Brugada syndrome 6 Aliases: BRGDA6	KCNE3	10008	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080686	tubular aggregate myopathy 2	ORAI1	84876	Homo sapiens (human)	Alliance of Genome Resources
DOID:11512	Budd-Chiari syndrome Aliases: hepatic vein thrombosis	APOA1 F5	2153 335	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080046	Stickler syndrome	col2a1.L	397738	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:10609	rickets Aliases: active rickets	CG31145	42784	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0080056	achondrogenesis type II	col2a1.L	397738	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0080105	microcephaly and chorioretinopathy 1	Tubgcp6	328580	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110649	long QT syndrome 8 Aliases: LQT8	cacna1c.S	100462911	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:264	hemangiopericytoma Aliases: Haemangiopericytic meningioma hemangiopericytoma, malignant malignant hemangiopericytoma	glp-1 lin-12 spe-9 vab-1 ver-1 ver-4	173042 173794 175182 176282 176286 186632	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0111392	mucopolysaccharidosis type IVB Aliases: MPS IVB MPS4B Morquio disease type B Morquio syndrome B beta-D-galactosidase deficiency mucopolysaccharidosis type IVB (Morquio)	bgal-1	188583	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0070338	cerebellar hypoplasia	Nav1	215690	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080693	Noonan syndrome-like disorder with loose anagen hair 2	GLC7	856870	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0080376	trichorhinophalangeal syndrome type III Aliases: trichorhinophalangeal syndrome type 3	TRPS1	7227	Homo sapiens (human)	Alliance of Genome Resources
DOID:4137	common bile duct disease	SLC25A12 SLC25A13	10165 8604	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110652	long QT syndrome 11 Aliases: LQT11	AKAP9	10142	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080669	posterior polymorphous corneal dystrophy 4	Grhl2	252973	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112198	spondyloepimetaphyseal dysplasia with joint laxity type 1 Aliases: SEMDJL1 spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	B3GALT6	126792	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050813	spondyloepiphyseal dysplasia with congenital joint dislocations Aliases: CHONDRODYSPLASIA WITH MULTIPLE DISLOCATIONS CHST3-Related Skeletal Dysplasia Humero-spinal dysostosis with congenital heart disease Kozlowski Celermajer Tink syndrome Omani Type Spondyloepiphyseal Dysplasia humero-spinal dysostosis humerospinal dysostosis	chst3	100492673	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0110152	Charcot-Marie-Tooth disease type 1B Aliases: CMT1B Charcot-Marie-Tooth disease slow nerve conduction type linked to Duffy Charcot-Marie-Tooth neuropathy type 1B HMSN IB HMSN1B autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1B hereditary motor and sensory neuropathy IB peroneal muscular atrophy	Mpz	24564	Rattus norvegicus (Norway rat)	Alliance of Genome Resources

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