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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 **13026 - 13050** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:0081015	congenital fibrosis of the extraocular muscles 1	KIF21A	55605	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
DOID:0112378	muscular dystrophy-dystroglycanopathy type B3 Aliases: MDDGB3 congenital muscular dystrophy POMGNT1-related	POMGNT1	55624	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110292	autosomal recessive limb-girdle muscular dystrophy type 2O Aliases: LGMD2O MDDGC3 muscular dystrophy-dystroglycanopathy (limb-girdle) type C3 muscular dystrophy-dystroglycanopathy limb-girdle POMGNT1-related	POMGNT1	55624	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050605	acrodermatitis enteropathica	SLC39A4	55630	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090084	hypogonadotropic hypogonadism 5 with or without anosmia	CHD7	55636	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080245	Galloway-Mowat syndrome 3	OSGEP	55644	Homo sapiens (human)	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	PIGV	55650	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:13372	alpha 1-antitrypsin deficiency Aliases: AAT deficiency	serpine3	556612	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0110288	autosomal recessive limb-girdle muscular dystrophy type 2W Aliases: LGMD2W muscular dystrophy, limb-girdle, type 2W	LIMS2	55679	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050813	spondyloepiphyseal dysplasia with congenital joint dislocations Aliases: CHONDRODYSPLASIA WITH MULTIPLE DISLOCATIONS CHST3-Related Skeletal Dysplasia Humero-spinal dysostosis with congenital heart disease Kozlowski Celermajer Tink syndrome Omani Type Spondyloepiphyseal Dysplasia humero-spinal dysostosis humerospinal dysostosis	chst3a chst3b	556800 559721	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:2256	osteochondrodysplasia Aliases: Cartilage Development disorder Congenital anomaly of cartilage Osteochondrodysplasia syndrome chondrodystrophy skeletal dysplasia	chst3a chst3b	556800 559721	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0080980	arthrogryposis multiplex congenita-4 Aliases: Zain syndrome	SCYL2	55681	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111693	familial adult myoclonic epilepsy 4 Aliases: FAME4 FCMTE4 familial cortical myoclonic tremor and epilepsy 4	YEATS2	55689	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070047	Schuurs-Hoeijmakers Syndrome Aliases: MRD17 SHMS autosomal dominant mental retardation 17	PACS1	55690	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060797	hypomyelinating leukodystrophy 8 Aliases: HLD8	POLR3B	55703	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050572	cone-rod dystrophy Aliases: cone-rod retinal dystrophy	eys	557044	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0110384	retinitis pigmentosa 25 Aliases: RP25	eys	557044	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0060399	chromosome 16p12.1 deletion syndrome	MOSMO POLR3E UQCRC2	55718 730094 7385	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080470	developmental and epileptic encephalopathy 36 Aliases: congenital disorder of glycosylation, type Is early infantile epileptic encephalopathy 36	alg13	557181	Danio rerio (zebrafish)	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	557187	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:3962	thyroid gland follicular carcinoma Aliases: Follicular adenocarcinoma Follicular adenocarcinoma, well differentiated Follicular carcinoma Thyroid adenocarcinoma follicular thyroid carcinoma	PRKAR1A PTEN	5573 5728	Homo sapiens (human)	Alliance of Genome Resources
DOID:14669	acrodysostosis	PRKAR1A	5573	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050471	Carney complex Aliases: Carney Complex, Type 1 Carney Complex, Type 2 Carney Syndrome Carney complex variant LAMB Syndrome NAME Syndrome	PRKAR1A	5573	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060280	primary pigmented nodular adrenocortical disease	PRKAR1A	5573	Homo sapiens (human)	Alliance of Genome Resources

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