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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 **3926 - 3950** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0111668	Kohlschutter-Tonz syndrome Aliases: KTZS Kohlschutter's syndrome amelocerebrohypohidrotic syndrome epilepsy and yellow teeth epilepsy dementia amelogenesis imperfecta epilepsy-dementia-amelogenesis imperfecta syndrome	PHO87 PHO90 PHO91	850403 853241 855747	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0070053	autosomal dominant intellectual developmental disorder 23 Aliases: MRD23 autosomal dominant mental retardation 23 autosomal dominant non-syndromic intellectual disability 23	SET3	853900	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:9834	hyperopia Aliases: Far-sightedness farsightedness hypermetropia	MFRP MYRF NOG	745 83552 9241	Homo sapiens (human)	Alliance of Genome Resources
DOID:3308	embryonal carcinoma Aliases: primary extragonadal embryonal carcinoma	AFP CHEK2 FGF8 INHA POU5F1 RB1	11200 174 2253 3623 5460 5925	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110676	congenital myasthenic syndrome 13 Aliases: CMS13 CMSTA2 congenital myasthenic syndrome 13 with tubular aggregates congenital myasthenic syndrome with tubular aggregates 2	ALG7	852545	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0110636	congenital merosin-deficient muscular dystrophy 1A Aliases: CMD1A MDC1A Merosin-negative congenital muscular dystrophy congenital muscular dystrophy due to laminin alpha2 deficiency	LAMA2	3908	Homo sapiens (human)	Alliance of Genome Resources
DOID:3457	invasive lobular carcinoma Aliases: Lobular carcinoma Lobular carcinoma of breast Lobular carcinoma of the breast	let-23	174462	Caenorhabditis elegans	Alliance of Genome Resources
DOID:14669	acrodysostosis	PRKAR1A	5573	Homo sapiens (human)	Alliance of Genome Resources
DOID:559	acute pyelonephritis	Cxcr2 Rbp4	12765 19662	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060874	isolated growth hormone deficiency type IB Aliases: IGHD IB congenital IGHD type IB congenital isolated GH deficiency type IB congenital isolated growth hormone deficiency type IB dwarfism of Sindh	GHRHR	2692	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111532	osteoglophonic dysplasia Aliases: Fairbank-Keats syndrome OGD osteoglophonic dwarfism	htl	42160	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:5200	urinary tract obstruction Aliases: Obstructive Uropathy urinary obstruction	ADAMTS1 BNC2	54796 9510	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050155	sensory system disease	TBL1X TBL1Y	6907 90665	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111648	ectopia lentis with ectopia of pupil Aliases: ectopia lentis et pupillae	ADAMTSL4	54507	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111571	Weyers acrofacial dysostosis Aliases: Curry-Hall syndrome WAD Weyers acrodental dysostosis acrofacial dysostosis, Weyers type	EVC2	132884	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060365	mandibulofacial dysostosis with alopecia Aliases: MFDA	Ednra	24326	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:224	transient cerebral ischemia Aliases: TIA TIA - Transient ischaemic attack Transient cerebral ischaemia Transient ischemic attacks transient ischemic attack	epoa fgfr1a fgfr2 notch1a parp1 slc12a2 slc17a6a slc17a6b slc17a8	100004455 100149756 30705 30718 352940 415170 494492 560788 563467	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0081118	benign familial infantile seizures 5 Aliases: Benign Familial Infantile Seizures, 5	Scn8a	20273	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14227	azoospermia	ndst1 ndst2 ndst3 ndst4	100145653 100217321 100380006 496577	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0050855	renal fibrosis	ACE ADAM17 AGER CLU CYBB CYP2J2 ECE1 EDNRA ENG FCAR GFER GPR21 GPR52 IFNG KRAS LEPR MMP1 MMP9 PPARGC1A SERPINE1 STAT6 TLR2 TLR4	10891 1191 1536 1573 1636 177 1889 1909 2022 2204 2671 2844 3458 3845 3953 4312 4318 5054 6778 6868 7097 7099 9293	Homo sapiens (human)	Alliance of Genome Resources
DOID:2750	glycogen storage disease IV Aliases: Amylopectinosis Branching-transferase deficiency glycogenosis Glycogen storage disease 4 Glycogen storage disease, type IV brancher deficiency glycogenosis deficiency of 1,4-alpha-glucan branching enzyme	Gbe1	74185	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060936	dystonia 28 childhood-onset Aliases: DYSTONIA 28, CHILDHOOD-ONSET DYT28	trx	41737	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0060713	autosomal recessive congenital ichthyosis 4B Aliases: ARCI4B harlequin ichthyosis harlequin type ichthyosis congenita harlequin type ichthyosis fetalis	Piga Prss8	192107 363464	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050660	Beare-Stevenson cutis gyrata syndrome	Fgfr2	25022	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080730	Ehlers-Danlos syndrome cardiac valvular type	Col1a2	84352	Rattus norvegicus (Norway rat)	Alliance of Genome Resources

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