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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 **4851 - 4875** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0110446	dilated cardiomyopathy 1W Aliases: CMD1W	VCL	7414	Homo sapiens (human)	Alliance of Genome Resources
DOID:8677	perinatal necrotizing enterocolitis Aliases: ENTEROCOLITIS NECROTIZING Necrotizing enterocolitis in fetus OR newborn Perinatal necrotising enterocolitis Pseudomembranous enterocolitis in newborn necrotizing enterocolitis	parp1 tlr5b	403139 560788	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:206	hereditary multiple exostoses Aliases: Multiple congenital exostosis Multiple exostosis syndromes Osteochondromatosis syndrome hereditary multiple exostoses 1 hereditary multiple exostoses 2 hereditary multiple exostoses 3 multiple ostechondromas	rib-1 rib-2	176502 178080	Caenorhabditis elegans	Alliance of Genome Resources
DOID:10690	mastitis Aliases: Inflammatory breast disease Inflammatory disease of breast breast inflammation	lron-15	174079	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0080837	growth hormone insensitivity syndrome with immune dysregulation 2	STAT5B	6777	Homo sapiens (human)	Alliance of Genome Resources
DOID:1919	Lesch-Nyhan syndrome Aliases: Complete hypoxanthine-guanine phosphoribosyltransferase deficiency HG-PRT deficiency Hypoxanthine-guanine phosphoribosyltransferase deficiency Hypoxanthine-guanine-phosphoribosyltransferase deficiency Lesch - Nyhan syndrome X-linked hyperuricemia deficiency of IMP pyrophosphorylase hypoxanthine guanine phosphoribosyltransferase deficiency	APT1 APT2	852051 854986	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:1920	hyperuricemia Aliases: Blood urate raized uricacidemia	Balat CarT Orct2 Orct st w	31271 35334 36417 39836 42890 42891	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0080442	developmental and epileptic encephalopathy 41 Aliases: DEE41 early infantile epileptic encephalopathy 41	glt-1 glt-3 glt-6	177882 180641 187623	Caenorhabditis elegans	Alliance of Genome Resources
DOID:7004	ACTH-secreting pituitary adenoma Aliases: ACTH-Producing Pituitary Adenoma Corticotroph adenoma Corticotropinoma	Avpr1b Usp8	26361 84092	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1996	rectum adenocarcinoma Aliases: Rectal adenocarcinoma	CYC8	852410	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0070461	mitochondrial complex V (ATP synthase) deficiency nuclear type 4A Aliases: MC5DN4A	ATP5F1A	498	Homo sapiens (human)	Alliance of Genome Resources
DOID:9784	trichinosis Aliases: Trichinella spiralis infection	slc17a8	563467	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:1967	leiomyosarcoma Aliases: Leiomyosarcomas	ver-1 ver-3 ver-4	175182 181289 186632	Caenorhabditis elegans	Alliance of Genome Resources
DOID:2600	laryngeal carcinoma Aliases: cancer of larynx carcinoma of larynx	ACKR3 CXCR4 KMT2C UBR5 XRCC1	51366 57007 58508 7515 7852	Homo sapiens (human)	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	56704	Homo sapiens (human)	Alliance of Genome Resources
DOID:8683	myeloid sarcoma Aliases: Chloroma Extramedullary Myeloid tumor Granulocytic sarcoma	Kras Pdgfra	16653 18595	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111480	combined oxidative phosphorylation deficiency 10 Aliases: COXPD10 infantile hypertrophic mitochondrial cardiomyopathy and lactic acidosis mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	Mto1	68291	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:10762	portal hypertension	C49C8.5 Y43C5A.2 asp-1 cri-2 ntr-1 ntr-2 tbh-1 timp-1	177668 177911 179197 179199 180251 181639 184471 188227	Caenorhabditis elegans	Alliance of Genome Resources
DOID:11121	pulpitis Aliases: pulp stones	Ifng Tlr4	25712 29260	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111231	congenital muscular dystrophy-dystroglycanopathy type A8 Aliases: MDDGA8 Walker-Warburg syndrome or muscle-eye-brain disease GTDC2-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A8	POMGNT2	84892	Homo sapiens (human)	Alliance of Genome Resources
DOID:718	autoimmune hemolytic anemia Aliases: Autoimmune haemolytic anaemia autoimmune hemolytic anaemia	CTLA4 TSLP	1493 85480	Homo sapiens (human)	Alliance of Genome Resources
DOID:1214	tympanosclerosis	Tl	43222	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0080015	physical disorder Aliases: congenital disorder	BMP4	652	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110732	neuronal ceroid lipofuscinosis 11 Aliases: CLN11	GRN	2896	Homo sapiens (human)	Alliance of Genome Resources
DOID:9268	glycine encephalopathy Aliases: Non-ketotic hyperglycinemia nonketotic hyperglycinemia	Gldc	104174	Mus musculus (house mouse)	Alliance of Genome Resources

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