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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 **5276 - 5300** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0060695	hyperekplexia Aliases: Kok disease congenital stiff man syndrome familial startle disease hereditary hyperekplexia startle disease	Glra1	25674	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080333	aortic valve disease 1	notch1	100037842	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:11088	asphyxia neonatorum Aliases: Asphyxia - birth Asphyxia, in liveborn infant Birth asphyxia postnatal asphyxia	Map2 Pdia3	14827 17756	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111230	congenital muscular dystrophy-dystroglycanopathy type A11 Aliases: MDDGA11 Walker-Warburg syndrome or muscle-eye-brain disease B3GALNT2-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A11	b3galnt2	553716	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0110647	long QT syndrome 5 Aliases: LQT5	KCNE1	3753	Homo sapiens (human)	Alliance of Genome Resources
DOID:4948	gallbladder carcinoma Aliases: cancer of the gallbladder carcinoma gallbladder carcinoma of gallbladder	abo.2.L abo.3.L abo.4.L	108698211 108698863 495825	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0111271	Oliver-McFarlane syndrome Aliases: OMCS eyelashes long mental retardation long eyelashes-intellectual disability syndrome trichomegaly-retina pigmentary degeneration-dwarfism syndrome	Pnpla6	50767	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2256	osteochondrodysplasia Aliases: Cartilage Development disorder Congenital anomaly of cartilage Osteochondrodysplasia syndrome chondrodystrophy skeletal dysplasia	daf-1 mua-3 mup-4 pdfr-1 sma-6 unc-52	174044 175126 175942 176060 176430 176829	Caenorhabditis elegans	Alliance of Genome Resources
DOID:11506	suppurative otitis media Aliases: Otitis media with effusion - purulent Purulent otitis media	Ifng Tlr2 Tlr4	15978 21898 24088	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070433	hyperphosphatasia with impaired intellectual development syndrome 1 Aliases: GPIBD2 HPMRS1 glycosylphosphatidylinositol biosynthesis defect 2 hyperphosphatasia with mental retardation syndrome 1	PIG-V	19835383	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:4247	coronary restenosis	Ace mys	41625 44885	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0080732	Ehlers-Danlos syndrome classic-like 2	Aebp1	11568	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1287	cardiovascular system disease Aliases: disease of subdivision of hemolymphoid system	C27A7.3 Y43C5A.2 enpl-1 enpp-1 gpx-3 gpx-5 gsy-1 pxn-1 pxn-2	174924 177911 178014 179663 179665 181178 181288 182513 191484	Caenorhabditis elegans	Alliance of Genome Resources
DOID:856	biotinidase deficiency Aliases: BTD deficiency Juvenile-onset multiple carboxylase deficiency Late-onset multiple carboxylase deficiency deficiency of biotinidase	Btd	306262	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:14283	primary hypertrophic osteoarthropathy Aliases: Pachydermoperiostosis of nail Pachydermoperiostosis syndrome	Slco2a1	24059	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:5603	T-cell acute lymphoblastic leukemia Aliases: Precursor T Lymphoblastic Leukemia T Acute Lymphoblastic Leukemia T-cell acute lymphocytic leukaemia T-cell leukemia T-cell lymphoblastic leukemia/lymphoma acute T cell leukemia precursor T-lymphoblastic lymphoma/leukemia	Cxcr4 Lyl1 Nup98 Pdgfra	12767 17095 18595 269966	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110827	Usher syndrome type 2 Aliases: USH2	Ush2a	22283	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060180	colitis	Octbeta2R TkR86C TkR99D Tl gbb	37778 41286 41549 43222 43551	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0060717	autosomal recessive congenital ichthyosis 8 Aliases: ARCI8 lamellar ichthyosis 4 late-onset lamellar ichthyosis	Lipn	70166	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110725	neuronal ceroid lipofuscinosis 10 Aliases: CLN10 Cathepsin D deficiency neuronal ceroid lipofuscinosis cathepsin D-deficient neuronal ceroid lipofuscinosis due to cathepsin D deficiency	ctsd.S	443721	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:3689	brachial plexus neuritis Aliases: Brachial neuritis Parsonage-Aldren-Turner syndrome	SEPTIN9	10801	Homo sapiens (human)	Alliance of Genome Resources
DOID:2876	laryngeal squamous cell carcinoma Aliases: Epidermoid carcinoma of the Larynx squamous cell carcinoma of larynx	PBS2	853313	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0111678	hereditary folate malabsorption Aliases: congenital defect of folate absorption congenital folate malabsorption	Slc46a1	303333	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0070403	hypomyelinating leukodystrophy 26 Aliases: HLD26	sll	42115	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0080171	esophageal atresia/tracheoesophageal fistula Aliases: esophageal atresia and/or tracheoesophageal fistula tracheoesophageal fistula with or without esohageal atresia	nog	493191	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources

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