GlyCosmos Portal

Homo sapiens (human)

Summary

Taxonomy ID: 9606
PubChem Taxonomy: 9606

Genes (9988) Glycans (5831) Glycoproteins (15733) Lectins (298) Pathways (2074)

Displaying entries **4251 - 4275** of **9988** in total

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Gene ID ▼	Gene Name	Gene Symbol	Disease Ontology
29940	dermatan sulfate epimerase	DSE DS-Epi1 DSEPI	Ehlers-Danlos syndrome musculocontractural type 2 Ehlers-Danlos syndrome atrial heart septal defect 1 atrial heart septal defect 2 atrial heart septal defect 3 atrial heart septal defect 4 atrial heart septal defect 5 atrial heart septal defect 6 atrial heart septal defect 7 atrial heart septal defect 8 atrial heart septal defect 9 atrial heart septal defect breast cancer breast carcinoma cancer cardiovascular system disease cerebral degeneration clubfoot craniosynostosis diabetes mellitus diabetic ketoacidosis embryoma fibromyalgia gastroschisis heart disease hepatocellular carcinoma inguinal hernia liver cancer mitral valve insufficiency mitral valve prolapse myositis osteogenesis imperfecta patent foramen ovale postural orthostatic tachycardia syndrome type 2 diabetes mellitus
29937	neudesin neurotrophic factor	NENF
29935	replication protein A4	RPA4
29933	G protein-coupled receptor 132	GPR132
29930	protocadherin beta 1	PCDHB1
29929	ALG6 alpha-1,3-glucosyltransferase	ALG6 dolichyl-P-Glc:Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase	antithrombin III deficiency congenital disorder of glycosylation Ia congenital disorder of glycosylation Ic congenital disorder of glycosylation type I congenital disorder of glycosylation epilepsy hypertropia mechanical strabismus ophthalmoplegia protein C deficiency protein S deficiency strabismus thrombophilia visual epilepsy
29926	GDP-mannose pyrophosphorylase A	GMPPA	Addison's disease Down syndrome Laron syndrome achalasia achondroplasia adrenal cortical hypofunction alacrima, achalasia, and impaired intellectual development syndrome blindness coloboma epilepsy intellectual disability learning disability megaesophagus microcephaly nonepidermolytic palmoplantar keratoderma optic atrophy palmoplantar keratosis sensorineural hearing loss triple-A syndrome visual epilepsy
29925	GDP-mannose pyrophosphorylase B	GMPPB KIAA1851 mannose-1-phosphate guanyltransferase beta	Bell's palsy Duchenne muscular dystrophy Fukuyama congenital muscular dystrophy Lambert-Eaton myasthenic syndrome Walker-Warburg syndrome agnosia amblyopia autosomal dominant Emery-Dreifuss muscular dystrophy 2 autosomal dominant limb-girdle muscular dystrophy type 1 autosomal dominant limb-girdle muscular dystrophy type 1H autosomal dominant limb-girdle muscular dystrophy type 2 autosomal dominant limb-girdle muscular dystrophy type 3 autosomal dominant limb-girdle muscular dystrophy autosomal recessive limb-girdle muscular dystrophy type 2A autosomal recessive limb-girdle muscular dystrophy type 2B autosomal recessive limb-girdle muscular dystrophy type 2C autosomal recessive limb-girdle muscular dystrophy type 2D autosomal recessive limb-girdle muscular dystrophy type 2E autosomal recessive limb-girdle muscular dystrophy type 2F autosomal recessive limb-girdle muscular dystrophy type 2G autosomal recessive limb-girdle muscular dystrophy type 2H autosomal recessive limb-girdle muscular dystrophy type 2I autosomal recessive limb-girdle muscular dystrophy type 2J autosomal recessive limb-girdle muscular dystrophy type 2K autosomal recessive limb-girdle muscular dystrophy type 2L autosomal recessive limb-girdle muscular dystrophy type 2M autosomal recessive limb-girdle muscular dystrophy type 2N autosomal recessive limb-girdle muscular dystrophy type 2O autosomal recessive limb-girdle muscular dystrophy type 2P autosomal recessive limb-girdle muscular dystrophy type 2Q autosomal recessive limb-girdle muscular dystrophy type 2S autosomal recessive limb-girdle muscular dystrophy type 2T autosomal recessive limb-girdle muscular dystrophy type 2U autosomal recessive limb-girdle muscular dystrophy type 2Y autosomal recessive limb-girdle muscular dystrophy bilateral optic nerve hypoplasia blindness cardiomyopathy cataract centronuclear myopathy cleft palate clubfoot coloboma communicating hydrocephalus cone-rod dystrophy congenital muscular dystrophy-dystroglycanopathy A14 congenital muscular dystrophy-dystroglycanopathy type A1 congenital muscular dystrophy congenital myasthenic syndrome congenital nystagmus congenital ptosis congenital structural myopathy cryptorchidism developmental coordination disorder dissociated nystagmus distal myopathy endomyocardial fibrosis epilepsy esotropia facial nerve disease facial paralysis facioscapulohumeral muscular dystrophy familial periodic paralysis fundus albipunctatus glaucoma holoprosencephaly 1 holoprosencephaly hydrocephalus hypertrophic cardiomyopathy hypertropia idiopathic generalized epilepsy intellectual disability isolated cleft palate isolated elevated serum creatine phosphokinase levels learning disability limb-girdle muscular dystrophy mechanical strabismus megalocornea meningocele microcephaly microphthalmia monocular esotropia muscular dystrophy-dystroglycanopathy type B14 muscular dystrophy-dystroglycanopathy type B1 muscular dystrophy-dystroglycanopathy muscular dystrophy myofibrillar myopathy 1 myofibrillar myopathy 3 myopathy myopia obsolete autosomal dominant limb-girdle muscular dystrophy type 1A obsolete autosomal dominant limb-girdle muscular dystrophy type 1B obsolete autosomal dominant limb-girdle muscular dystrophy type 1C obsolete autosomal recessive limb-girdle muscular dystrophy type 2R obstructive hydrocephalus oculopharyngeal muscular dystrophy oligohydramnios ophthalmoplegia optic atrophy pathologic nystagmus ptosis retinal detachment retinitis pigmentosa rippling muscle disease 2 scoliosis senile degeneration of brain sensorineural hearing loss speech disorder spontaneous ocular nystagmus strabismic amblyopia strabismus syndromic X-linked intellectual disability 94 visual epilepsy
29924	epsin 1	EPN1
29923	hypoxia inducible lipid droplet associated	HILPDA
29920	pyrroline-5-carboxylate reductase 2	PYCR2
29915	host cell factor C2	HCFC2
29909	G protein-coupled receptor 171	GPR171
29906	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	ST8SIA5 ST8Sia V	idiopathic scoliosis
29896	transformer 2 alpha homolog	TRA2A
29890	RNA binding motif protein 15B	RBM15B
29889	G protein nucleolar 2	GNL2
29888	striatin 4	STRN4
29881	NPC1 like intracellular cholesterol transporter 1	NPC1L1
29880	ALG5 dolichyl-phosphate beta-glucosyltransferase	ALG5 bA421P11.2	congenital disorder of glycosylation type I polycystic kidney disease
29855	ubinuclein 1	UBN1
29851	inducible T cell costimulator	ICOS
29843	SUMO specific peptidase 1	SENP1
29841	grainyhead like transcription factor 1	GRHL1
29803	replication initiator 1	REPIN1

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