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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 **15801 - 15825** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0111508	Torrance type platyspondylic dysplasia Aliases: PLSD-T PLSDT lethal short-limbed platyspondylic dwarfism, Torrance type platyspondylic dysplasia, Torrance-Luton type platyspondylic lethal skeletal dysplasia, Torrance type thanatophoric dysplasia, Torrance variant	COL2A1	1280	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080414	developmental and epileptic encephalopathy 15 Aliases: DEE15 early infantile epileptic encephalopathy 15	st3gal3	402789	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:1702	ichthyosis vulgaris Aliases: Dominant congenital ichthyosiform erythroderma	FLG LBR	2312 3930	Homo sapiens (human)	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	57526	Homo sapiens (human)	Alliance of Genome Resources
DOID:8545	malignant hyperthermia Aliases: anesthesia related hyperthermia malignant hyperpyrexia due to anesthesia	CACNA1S CACNG1 RYR1 RYR2 RYR3	6261 6262 6263 779 786	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111900	autosomal dominant thrombophilia due to protein S deficiency Aliases: THPH5	Pros1	19128	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1214	tympanosclerosis	CAT ENPP1 TLR4	5167 7099 847	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080576	spondyloepimetaphyseal dysplasia, Genevieve-type	NANS	54187	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110289	autosomal recessive limb-girdle muscular dystrophy type 2Y Aliases: LGMD2Y autosomal recessive muscular dystrophy due to LAP1B deficiency autosomal recessive muscular dystrophy due to Torsin-1A-interacting protein 1 deficiency muscular dystrophy with progressive weakness, distal contractures and rigid spine muscular dystrophy, limb-girdle, type 2Y	TOR1AIP1	26092	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112173	combined deficiency of vitamin K-dependent clotting factors 1 Aliases: VKCFD1	Ggcx	56316	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1790	malignant mesothelioma Aliases: Diffuse malignant Mesothelioma advanced malignant mesothelioma asbestos-related malignant mesothelioma malignant tumor of Mesothelium	Acvr1b Mcam Setd2	11479 235626 84004	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:12986	leukostasis	Ace	24310	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080600	COVID-19 Aliases: 2019 Novel Coronavirus (2019-nCoV) 2019-nCoV infection COVID19 SARS-CoV-2 infection Wuhan coronavirus infection Wuhan seafood market pneumonia virus infection	A2m Abo2 Abo3 Abo Ace2 Ace Agtr1a Agtr1b Angpt2 Bdh1 C3 Calca Ccl2 Ccl7 Cd4 Cd8a Crp Csf2 Hgf Ifnb1 Ifng Il10 Il13 Il2 Il2ra Il2rb Il4 Kir3dl1 Lcn2 Mmp2 Mmp8 Nefl Nrp1 Pdgfb Sele Serping1 Tnf Tnnt2 Vegfa	100301568 116553 116562 116630 117099 170496 24153 24180 24232 24241 24310 24446 24481 24628 246331 24770 24835 24837 24930 24932 25325 25419 25544 25704 25712 25746 287287 287561 295703 296504 302668 353253 63849 65270 81638 81686 83613 83785 89805	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110367	retinitis pigmentosa 38 Aliases: RP38	Mertk	17289	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:12842	Guillain-Barre syndrome Aliases: Infectious neuronitis Post-infectious polyneuritis Postinfectious polyneuritis acute infective polyneuritis acute inflammatory demyelinating polyradiculopathy acute postinfectious polyneuropathy	gdnf.L	779087	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:11830	myopia Aliases: near vision near-sightedness short-sightedness	W01F3.2 dpy-18 lam-3 phy-2 zmp-4	172952 176569 178170 179991 180351	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0111239	congenital muscular dystrophy-dystroglycanopathy type A10 Aliases: MDDGA10 Walker-Warburg syndrome or muscle-eye-brain disease, TMEM5-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A10	Rxylt1	299841	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:8472	localized scleroderma Aliases: Morphea Scleroderma, circumscribed or localised Scleroderma, circumscribed or localized circumscribed scleroderma localised morphea localised morphoea localised scleroderma localized morphea	tgfb1.L	397778	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0081350	congenital myopathy 18	Ca-alpha1D	34950	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:9065	leishmaniasis	SerT	37895	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:169	neuroendocrine tumor Aliases: neuroendocrine neoplasm	CALR DAXX	1616 811	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080940	hereditary angioedema type III	F12	2161	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090093	hypogonadotropic hypogonadism 21 with or without anosmia	FLRT3	23767	Homo sapiens (human)	Alliance of Genome Resources
DOID:1035	aggressive NK-cell leukemia Aliases: aggressive NK-cell leukaemia large granular Lymphocyte Leukemia, NK-cell type natural killer cell leukaemia natural killer cell leukemia	Trp53	22059	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:12894	Sjogren's syndrome Aliases: Sicca syndrome Sjogren syndrome xerodermosteosis	pon1	447803	Danio rerio (zebrafish)	Alliance of Genome Resources

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