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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 **8151 - 8175** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0080047	pseudoachondroplasia Aliases: SPONDYLOEPIPHYSEAL DYSPLASIA, PSEUDOACHONDROPLASTIC pseudoachondroplastic dysplasia	Comp	25304	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:9669	senile cataract	Cdkn1b Hspa1a Ogg1	24472 81528 83571	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0070332	multiple mitochondrial dysfunctions syndrome 6	Pmpcb Uqcrc1	22273 73078	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110679	congenital myasthenic syndrome 4C Aliases: CMS Id CMS1D CMS4C FIM1 congenital myasthenic syndrome 4C associated with acetylcholine receptor deficiency congenital myasthenic syndrome type Id familial infantile myasthenia 1	Chrne	29422	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0112216	developmental and epileptic encephalopathy 80 Aliases: DEE80 GPIBD20 early infantile epileptic encephalopathy 80 glycosylphosphatidylinositol biosynthesis defect 20	pigb-1	13184808	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0050902	medulloblastoma Aliases: CNS PNET CPNET Medulloblastoma, histologically defined brain medulloblastoma infratentorial primitive neuroectodermal tumor localized primitive neuroectodermal tumor	gpr161b pdgfra smo	30225 368421 386856	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0070093	schizophrenia 18 Aliases: Chromosome 7q36.3 Duplication Syndrome, 362-Kb SCZD18	glt-4	188744	Caenorhabditis elegans	Alliance of Genome Resources
DOID:8440	ileus Aliases: Ileus of intestine	KIT MMP9 NOS3	3815 4318 4846	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060826	syndromic X-linked intellectual disability Shashi type Aliases: MRXS11 SMRXS Shashi X-linked mental retardation syndrome X-linked mental retardation Shashi type mental retardation, X-linked, syndromic 11, Shashi type syndromic X-linked intellectual disability type 11	RBMX	27316	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050955	spinocerebellar ataxia type 2	Atxn2 Atxn2l	20239 233871	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:10584	retinitis pigmentosa Aliases: pericentral pigmentary retinopathy	eys fgfr2 ngfb pomgnt1 rho rhol vegfaa	30295 30682 352940 557044 562845 571876 58133	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:8761	acute megakaryocytic leukemia Aliases: Megakaryocytic myelosis Thrombocytic leukaemia	Abcg2 Ezh2 Mrtfa Sncb	104069 14056 223701 26357	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111072	myostatin-related muscle hypertrophy Aliases: MSLHP	mstnb	798441	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:3491	Turner syndrome Aliases: Bonnevie-Ullrich syndrome Gonadal dysgenesis - Turner Karyotype 45, X Monosomy X XO syndrome monosomy X syndrome	Igfbp3	16009	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3310	atopic dermatitis Aliases: Atopic neurodermatitis Besnier's prurigo allergic dermatitis atopic eczema	ngf.S tgfb1.L	108709389 397778	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0110660	congenital myasthenic syndrome 12 Aliases: CMS12 congenital myasthenia 12 with tubular aggregates	Gfpt1	14583	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111742	cerebellar ataxia type 42 Aliases: SCA42	Cacna1g	12291	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060863	patterned macular dystrophy Aliases: patterned dystrophy of retinal pigment epithelium	Prph2	25534	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:1168	familial hyperlipidemia Aliases: familial hyperlipoproteinemia hyperlipemia	rgn	448549	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:8584	Burkitt lymphoma Aliases: Burkitt lymphoma/leukaemia Burkitt's Lymphoma Burkitt's tumor Burkitt's tumor or lymphoma malignant lymphoma, Burkitt's type small Non-Cleaved cell Lymphoma, Burkitt's type	BTK CALR CD40 CD79B MYC	4609 695 811 958 974	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090082	hypogonadotropic hypogonadism 20 with or without anosmia	Fgf17	14171	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:13359	Ehlers-Danlos syndrome Aliases: Cutis hyperelastica elastic skin	let-805 sqv-2 sqv-3	173635 175384 176382	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0112121	nephrogenic syndrome of inappropriate antidiuresis Aliases: NSIAD	ntr-1 ntr-2	184471 188227	Caenorhabditis elegans	Alliance of Genome Resources
DOID:11727	facioscapulohumeral muscular dystrophy Aliases: Landouzy Dejerine muscular dystrophy Landouzy-Dejerine muscular dystrophy Muscular dystrophy, Landouzy-Dejerine	Fat1 Large1 Slc25a4	11739 14107 16795	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060836	isolated microphthalmia 4 Aliases: MCOP4	gdf6a gdf6b	30180 566470	Danio rerio (zebrafish)	Alliance of Genome Resources

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