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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 **8076 - 8100** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0112102	Sotos syndrome 2 Aliases: SOTOS2	NFIX	4784	Homo sapiens (human)	Alliance of Genome Resources
DOID:12574	posterior uveitis Aliases: Uveitis, posterior	Ccr5	117029	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:13223	uterine fibroid Aliases: Plexiform leiomyoma UTERUS FIBROMA leiomyoma of Corpus Uteri uterine leiomyoma	R193.2 let-2	181708 182256	Caenorhabditis elegans	Alliance of Genome Resources
DOID:6498	seborrheic keratosis	Pik3ca	18706	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14503	neuronal ceroid lipofuscinosis Aliases: hereditary ceroid lipofuscinosis	Ppt1 Ppt2 spin	31805 34564 45380	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:986	alopecia areata Aliases: Circumscribed alopecia	GIS1 VPS1	851670 853870	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:11166	Human papillomavirus infectious disease Aliases: HPV	Adar Cd274 Egfr Foxp3 H2-Eb1 Il1rl1 Tlr3 Tlr9	13649 142980 14969 17082 20371 56417 60533 81897	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:893	Wilson disease Aliases: Cerebral pseudosclerosis Westphal pseudosclerosis Westphal-Strumpell syndrome Wilson's disease hepatolenticular degeneration	Hmgcr	42803	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:820	myocarditis Aliases: Myocardial inflammation	Ace Ccl2 Cx3cl1 Cxcr3 Icam1 Icos Il10 Lcn2 Ptger4 Spp1 Tnfrsf11b Tnfsf11	117516 170496 24310 24770 25325 25341 25353 25464 64545 84023 84475 89808	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111253	neurofibromatosis 1 Aliases: NF1 Peripheral Neurofibromatosis Recklinghausen's neurofibromatosis neurofibromatosis type I von Recklinghausen Disease	Nf1 Vegfa	18015 22339	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060060	non-Hodgkin lymphoma	Lerp trx	41737 43223	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0110910	leukocyte adhesion deficiency 1 Aliases: LAD1 LFA1 immunodeficiency leukocyte adhesion deficiency type I lymphocyte function-associated antigen 1 immunodeficiency	ITGB2	3689	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111437	optic atrophy 7 Aliases: OPA7 optic atrophy 7 with or without auditory neuropathy	Tmem126a	293113	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080377	peroxisomal biogenesis disorder	rhoaa rhoab rhoac rhocb	100006041 406411 406659 436718	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0070164	spermatogenic failure 2 Aliases: SPGF2	MSH4	4438	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110184	Charcot-Marie-Tooth disease type 4J Aliases: CMT4J autosomal recessive Charcot-Marie-Tooth disease type 4J	FIG4	855392	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:14040	autoimmune polyendocrine syndrome Aliases: Autoimmune polyglandular failure Lloyd's syndrome autoimmune polyendocrinopathy	H2-Aa H2-Ab1 H2-Eb1	14960 14961 14969	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080051	acromesomelic dysplasia, Hunter-Thompson type Aliases: acromesomelic dwarfism acromesomelic dysplasia-2C	GDF5	8200	Homo sapiens (human)	Alliance of Genome Resources
DOID:5199	ureteral obstruction	ace parp1	560788 565980	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:2129	atypical teratoid rhabdoid tumor Aliases: Atypical teratoid/rhabdoid tumor Atypical teratoid/rhabdoid tumour Rhabdoid tumor of the CNS Rhabdoid tumour of the CNS atypical teratoid rhabdoid tumour	Gpc3	25236	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111805	syndromic microphthalmia 6 Aliases: Bakrania-Ragge syndrome MCOPS6 anophthalmia clinical with micrognathia malformed ears digital anomalies and abnormal external genitalia microphthalmia and pituitary anomalies microphthalmia with brain and digit anomalies syndromic microphthalmia type 6	Bmp4	12159	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090145	dopamine beta-hydroxylase deficiency Aliases: congenital dopamine beta-hydroxylase deficiency noradrenaline deficiency norepinephrine deficiency	KAR2	853418	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0080556	congenital disorder of glycosylation Id Aliases: congenital disorder of glycosylation 1d	Alg3	208624	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080434	developmental and epileptic encephalopathy 61 Aliases: DEE61 early infantile epileptic encephalopathy 61	ADAM22	53616	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111236	congenital muscular dystrophy-dystroglycanopathy type A3 Aliases: MDDGA3 Walker-Warburg syndrome or muscle-eye-brain disease, POMGNT1-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A3	POMGNT1	55624	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources

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