GlyCosmos Portal

Homo sapiens (human)

Summary

Taxonomy ID: 9606
PubChem Taxonomy: 9606

Genes (1582) Glycans (5831) Glycoproteins (18496) Lectins (298) Pathways (2090)

Displaying entries **801 - 825** of **1582** in total

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Gene ID	Gene Name	Gene Symbol	Disease Ontology ▼
3633	inositol polyphosphate-5-phosphatase B	INPP5B type II inositol 1,4,5-trisphosphate 5-phosphatase	Dent disease Duchenne muscular dystrophy Joubert syndrome 1 Joubert syndrome amyotrophic lateral sclerosis 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 congenital hypothyroidism congenital muscular dystrophy distal myopathy facioscapulohumeral muscular dystrophy giant cell glioblastoma glaucoma glioblastoma hypothyroidism limb-girdle muscular dystrophy muscular dystrophy myofibrillar myopathy 1 myofibrillar myopathy 3 myxedema 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 oculopharyngeal muscular dystrophy progressive muscular atrophy rippling muscle disease 2
84342	component of oligomeric golgi complex 8	COG8 DOR1 FLJ22315	Dandy-Walker syndrome Unverricht-Lundborg syndrome alternating esotropia alveolar soft part sarcoma blepharospasm brain disease clubfoot colorectal cancer colorectal carcinoma congenital disorder of glycosylation Ii congenital disorder of glycosylation type I congenital disorder of glycosylation type II congenital disorder of glycosylation type IIh congenital disorder of glycosylation developmental and epileptic encephalopathy 36 early myoclonic encephalopathy epilepsy esophageal cancer esophageal carcinoma focal hand dystonia hepatocellular carcinoma hydrocephalus hypoglycemia intellectual disability isolated elevated serum creatine phosphokinase levels large intestine cancer learning disability liver cancer lung benign neoplasm lung carcinoma microcephaly protein-losing enteropathy scoliosis status epilepticus stomach cancer stomach carcinoma visual epilepsy
2683	beta-1,4-galactosyltransferase 1	B4GALT1 Beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase N-acetyllactosamine synthase beta4Gal-T1 lactose synthase A	Dandy-Walker syndrome IgA glomerulonephritis arteriosclerotic cardiovascular disease atherosclerosis bladder carcinoma breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer childhood leukemia chronic myeloid leukemia colorectal cancer colorectal carcinoma congenital disorder of glycosylation type IId congenital disorder of glycosylation coronary artery disease diabetic ketoacidosis embryoma endocrine system disease familial periodic paralysis hepatitis hepatocellular carcinoma isolated elevated serum creatine phosphokinase levels large intestine cancer leukemia liver cancer lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma mastitis myopathy obsolete type 1 diabetes mellitus 9 rheumatoid arthritis type 1 diabetes mellitus 10 type 1 diabetes mellitus 11 type 1 diabetes mellitus 12 type 1 diabetes mellitus 13 type 1 diabetes mellitus 15 type 1 diabetes mellitus 17 type 1 diabetes mellitus 18 type 1 diabetes mellitus 19 type 1 diabetes mellitus 20 type 1 diabetes mellitus 21 type 1 diabetes mellitus 22 type 1 diabetes mellitus 23 type 1 diabetes mellitus 24 type 1 diabetes mellitus 2 type 1 diabetes mellitus 3 type 1 diabetes mellitus 4 type 1 diabetes mellitus 5 type 1 diabetes mellitus 6 type 1 diabetes mellitus 7 type 1 diabetes mellitus 8 type 1 diabetes mellitus urinary bladder cancer
23556	phosphatidylinositol glycan anchor biosynthesis class N	PIGN GPI ethanolamine phosphate transferase 1 MCD4 PIG-N	Dandy-Walker syndrome Hirschsprung's disease Marfan syndrome Meckel syndrome Miller-Dieker lissencephaly syndrome Paget's disease of bone acute monocytic leukemia acute myeloid leukemia amblyopia 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 autosomal dominant polycystic kidney disease basal ganglia disease blepharitis blepharospasm cerebral degeneration chromosome 17p13.1 deletion syndrome chronic recurrent multifocal osteomyelitis cleft palate colorectal cancer colorectal carcinoma congenital diaphragmatic hernia congenital nystagmus cryptorchidism dissociated nystagmus duodenal atresia epilepsy esophagitis esotropia essential thrombocythemia focal hand dystonia gastroesophageal reflux disease gingival hypertrophy gingival overgrowth heart septal defect holoprosencephaly 1 holoprosencephaly hydrocephalus hydronephrosis hypospadias idiopathic interstitial pneumonia imperforate anus intellectual disability isolated cleft palate large intestine cancer learning disability lingual-facial-buccal dyskinesia lissencephaly lung adenocarcinoma lung cancer mammary Paget's disease microphthalmia monocular esotropia movement disease multiple congenital anomalies-hypotonia-seizures syndrome 1 myelodysplastic syndrome omphalocele patent ductus arteriosus patent foramen ovale pathologic nystagmus peptic esophagitis polyhydramnios postinflammatory pulmonary fibrosis primary pulmonary hypertension pulmonary fibrosis recurrent corneal erosion renal agenesis situs inversus spontaneous ocular nystagmus strabismic amblyopia tetralogy of Fallot tuberous sclerosis umbilical hernia vesicoureteral reflux visual epilepsy
11041	beta-1,4-glucuronyltransferase 1	B4GAT1 B3GN-T1 BETA3GNTI IGnT N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase iGAT	Dandy-Walker syndrome Duchenne muscular dystrophy Fukuyama congenital muscular dystrophy Joubert syndrome Miller-Dieker lissencephaly syndrome Peters anomaly Walker-Warburg syndrome anencephaly 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 blindness breast cancer breast carcinoma cataract centronuclear myopathy coloboma communicating hydrocephalus complex cortical dysplasia with other brain malformations 1 complex cortical dysplasia with other brain malformations 7 congenital merosin-deficient muscular dystrophy 1A congenital muscular dystrophy 1B congenital muscular dystrophy due to LMNA mutation congenital muscular dystrophy due to integrin alpha-7 deficiency congenital muscular dystrophy-dystroglycanopathy type A13 congenital muscular dystrophy-dystroglycanopathy type A1 congenital muscular dystrophy congenital myopathy 1A congenital myopathy 4A congenital structural myopathy cornea plana cortical dysplasia-focal epilepsy syndrome cryptorchidism distal myopathy facioscapulohumeral muscular dystrophy glaucoma hydranencephaly hydrocephalus hydronephrosis isolated elevated serum creatine phosphokinase levels limb-girdle muscular dystrophy lissencephaly megaconial type congenital muscular dystrophy microcephaly microphthalmia muscular dystrophy-dystroglycanopathy type B1 muscular dystrophy-dystroglycanopathy type B5 muscular dystrophy-dystroglycanopathy type B6 muscular dystrophy myofibrillar myopathy 1 myofibrillar myopathy 3 nemaline myopathy 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 optic atrophy pontocerebellar hypoplasia type 2D pontocerebellar hypoplasia type 7 pontocerebellar hypoplasia type 8 pontocerebellar hypoplasia type 9 recurrent corneal erosion retinal detachment rigid spine muscular dystrophy 1 rippling muscle disease 2 senile degeneration of brain septooptic dysplasia short-rib thoracic dysplasia 14 with polydactyly syndromic X-linked intellectual disability Najm type
84197	protein O-mannose kinase	POMK FLJ23356 SgK196	Dandy-Walker syndrome Duchenne muscular dystrophy Fukuyama congenital muscular dystrophy Joubert syndrome Miller-Dieker lissencephaly syndrome Peters anomaly Walker-Warburg syndrome agnosia 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 coloboma communicating hydrocephalus complex cortical dysplasia with other brain malformations 1 complex cortical dysplasia with other brain malformations 7 congenital muscular dystrophy-dystroglycanopathy type A12 congenital muscular dystrophy-dystroglycanopathy type A1 congenital muscular dystrophy cornea plana cortical dysplasia-focal epilepsy syndrome cryptorchidism developmental coordination disorder distal myopathy endomyocardial fibrosis epilepsy facioscapulohumeral muscular dystrophy fundus dystrophy glaucoma hydranencephaly hydrocephalus hypertrophic cardiomyopathy hypertropia intellectual disability isolated elevated serum creatine phosphokinase levels learning disability limb-girdle muscular dystrophy lissencephaly lung small cell carcinoma mechanical strabismus megalocornea microcephaly microphthalmia muscular dystrophy-dystroglycanopathy type B1 muscular dystrophy-dystroglycanopathy type C12 muscular dystrophy myofibrillar myopathy 1 myofibrillar myopathy 3 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 ophthalmoplegia optic atrophy pontocerebellar hypoplasia type 2D pontocerebellar hypoplasia type 7 pontocerebellar hypoplasia type 8 pontocerebellar hypoplasia type 9 recurrent corneal erosion retinal degeneration retinal detachment rippling muscle disease 2 scoliosis senile degeneration of brain septooptic dysplasia short-rib thoracic dysplasia 14 with polydactyly strabismus syndromic X-linked intellectual disability Najm type visual epilepsy
148789	beta-1,3-N-acetylgalactosaminyltransferase 2	B3GALNT2 MGC39558	Dandy-Walker syndrome Duchenne muscular dystrophy Fukuyama congenital muscular dystrophy Joubert syndrome Miller-Dieker lissencephaly syndrome Peters anomaly Walker-Warburg syndrome agnosia 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 breast cancer breast carcinoma cancer cataract cerebral degeneration choreatic disease coloboma communicating hydrocephalus complex cortical dysplasia with other brain malformations 1 complex cortical dysplasia with other brain malformations 7 congenital muscular dystrophy-dystroglycanopathy type A11 congenital muscular dystrophy-dystroglycanopathy type A1 congenital muscular dystrophy cornea plana cortical dysplasia-focal epilepsy syndrome cryptorchidism depressive disorder developmental coordination disorder distal myopathy dysthymic disorder dystonia embryoma epilepsy facioscapulohumeral muscular dystrophy familial periodic paralysis focal epilepsy fundus dystrophy glaucoma hepatocellular carcinoma holoprosencephaly 1 holoprosencephaly hydranencephaly hydrocephalus hypertropia intellectual disability isolated elevated serum creatine phosphokinase levels learning disability limb-girdle muscular dystrophy lingual-facial-buccal dyskinesia lissencephaly liver cancer major depressive disorder mechanical strabismus melancholic depression meningocele microcephaly microphthalmia muscular dystrophy-dystroglycanopathy type B1 muscular dystrophy myofibrillar myopathy 1 myofibrillar myopathy 3 myopathy myopia neurotic disorder 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 obsolete infantile epileptic encephalopathy obsolete melancholia obstructive hydrocephalus oculopharyngeal muscular dystrophy ophthalmoplegia optic atrophy partial motor epilepsy pontocerebellar hypoplasia type 2D pontocerebellar hypoplasia type 7 pontocerebellar hypoplasia type 8 pontocerebellar hypoplasia type 9 recurrent corneal erosion retinal detachment rippling muscle disease 2 senile degeneration of brain sensorineural hearing loss septooptic dysplasia short-rib thoracic dysplasia 14 with polydactyly speech disorder stereotypic movement disorder strabismus syndromic X-linked intellectual disability 94 syndromic X-linked intellectual disability Najm type syndromic X-linked intellectual disability type 10 visual epilepsy
84892	protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)	POMGNT2 AGO61 FLJ14566 protein O-mannose beta-1,4-N-acetylglucosaminyltransferase 2	Dandy-Walker syndrome Duchenne muscular dystrophy Fukuyama congenital muscular dystrophy Joubert syndrome Miller-Dieker lissencephaly syndrome Peters anomaly Walker-Warburg syndrome acute myeloid leukemia 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 cataract coloboma communicating hydrocephalus complex cortical dysplasia with other brain malformations 1 complex cortical dysplasia with other brain malformations 7 congenital muscular dystrophy-dystroglycanopathy type A1 congenital muscular dystrophy-dystroglycanopathy type A8 congenital muscular dystrophy cornea plana cortical dysplasia-focal epilepsy syndrome cryptorchidism distal myopathy epilepsy facioscapulohumeral muscular dystrophy fundus dystrophy glaucoma hydranencephaly hydrocephalus intellectual disability isolated elevated serum creatine phosphokinase levels learning disability limb-girdle muscular dystrophy lissencephaly malaria microcephaly microphthalmia muscular dystrophy-dystroglycanopathy type B1 muscular dystrophy-dystroglycanopathy type C8 muscular dystrophy myofibrillar myopathy 1 myofibrillar myopathy 3 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 optic atrophy pontocerebellar hypoplasia type 2D pontocerebellar hypoplasia type 7 pontocerebellar hypoplasia type 8 pontocerebellar hypoplasia type 9 recurrent corneal erosion retinal detachment rippling muscle disease 2 senile degeneration of brain septooptic dysplasia short-rib thoracic dysplasia 14 with polydactyly syndromic X-linked intellectual disability Najm type visual epilepsy
55624	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	POMGNT1 FLJ20277 LGMD2O MGAT1.2 protein O-mannose beta-1,2-N-acetylglucosaminyltransferase	Dandy-Walker syndrome Duchenne muscular dystrophy Fukuyama congenital muscular dystrophy Joubert syndrome Miller-Dieker lissencephaly syndrome Peters anomaly Unverricht-Lundborg syndrome Walker-Warburg syndrome Zollinger-Ellison syndrome adult medulloblastoma agnosia autism spectrum disorder autistic disorder 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 blepharospasm blindness buphthalmos cardiomyopathy cataract centronuclear myopathy childhood medulloblastoma coloboma communicating hydrocephalus complex cortical dysplasia with other brain malformations 1 complex cortical dysplasia with other brain malformations 7 cone-rod dystrophy congenital merosin-deficient muscular dystrophy 1A congenital muscular dystrophy 1B congenital muscular dystrophy due to LMNA mutation congenital muscular dystrophy due to integrin alpha-7 deficiency congenital muscular dystrophy-dystroglycanopathy type A1 congenital muscular dystrophy-dystroglycanopathy type A3 congenital muscular dystrophy congenital myopathy 1A congenital myopathy 4A congenital nystagmus congenital stationary night blindness 1A congenital stationary night blindness congenital structural myopathy cornea plana corneal disease cortical dysplasia-focal epilepsy syndrome cryptorchidism developmental coordination disorder diabetes mellitus dissociated nystagmus distal myopathy early myoclonic encephalopathy endomyocardial fibrosis epilepsy facioscapulohumeral muscular dystrophy familial periodic paralysis focal hand dystonia fundus albipunctatus fundus dystrophy giant cell glioblastoma glaucoma glioblastoma high grade glioma holoprosencephaly 1 holoprosencephaly hydranencephaly hydrocephalus hydrophthalmos hyperinsulinism hypertrophic cardiomyopathy hypertropia hypogonadism intellectual disability isolated elevated serum creatine phosphokinase levels keratoconus learning disability limb-girdle muscular dystrophy lissencephaly mechanical strabismus medulloblastoma medullomyoblastoma megaconial type congenital muscular dystrophy megalocornea melanotic medulloblastoma meningocele microcephaly microphthalmia muscular dystrophy-dystroglycanopathy type B1 muscular dystrophy-dystroglycanopathy type B3 muscular dystrophy-dystroglycanopathy type B5 muscular dystrophy-dystroglycanopathy type B6 muscular dystrophy myofibrillar myopathy 1 myofibrillar myopathy 3 myopathy myopia nemaline myopathy neuroblastoma night blindness obesity obsolete asthenopia 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 ophthalmoplegia optic atrophy pathologic nystagmus peripheral retinal degeneration pontocerebellar hypoplasia type 2D pontocerebellar hypoplasia type 7 pontocerebellar hypoplasia type 8 pontocerebellar hypoplasia type 9 recurrent corneal erosion retinal degeneration retinal detachment retinal disease retinitis pigmentosa retinitis rigid spine muscular dystrophy 1 rippling muscle disease 2 senile degeneration of brain sensorineural hearing loss septooptic dysplasia short-rib thoracic dysplasia 14 with polydactyly speech disorder spontaneous ocular nystagmus strabismus syndromic X-linked intellectual disability 94 syndromic X-linked intellectual disability Najm type type 2 diabetes mellitus visual epilepsy
10329	ribitol xylosyltransferase 1	RXYLT1 HP10481	Dandy-Walker syndrome Duchenne muscular dystrophy Fukuyama congenital muscular dystrophy Joubert syndrome Miller-Dieker lissencephaly syndrome Peters anomaly Turner syndrome Walker-Warburg syndrome 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 cataract coloboma communicating hydrocephalus complex cortical dysplasia with other brain malformations 1 complex cortical dysplasia with other brain malformations 7 congenital disorder of glycosylation congenital muscular dystrophy-dystroglycanopathy type A10 congenital muscular dystrophy-dystroglycanopathy type A1 congenital muscular dystrophy cornea plana cortical dysplasia-focal epilepsy syndrome cryptorchidism distal myopathy epilepsy facioscapulohumeral muscular dystrophy fundus dystrophy glaucoma gonadal dysgenesis hydranencephaly hydrocephalus intellectual disability learning disability limb-girdle muscular dystrophy lissencephaly microcephaly microphthalmia muscular dystrophy-dystroglycanopathy type B1 muscular dystrophy myofibrillar myopathy 1 myofibrillar myopathy 3 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 optic atrophy pontocerebellar hypoplasia type 2D pontocerebellar hypoplasia type 7 pontocerebellar hypoplasia type 8 pontocerebellar hypoplasia type 9 recurrent corneal erosion retinal detachment rippling muscle disease 2 senile degeneration of brain septooptic dysplasia short-rib thoracic dysplasia 14 with polydactyly syndromic X-linked intellectual disability Najm type visual epilepsy
132158	glycerate kinase	GLYCTK HBEBP2 HBEBP4	D-glyceric aciduria Unverricht-Lundborg syndrome blepharospasm brain disease early myoclonic encephalopathy epilepsy focal hand dystonia glycine encephalopathy intellectual disability lactic acidosis learning disability locked-in syndrome microcephaly obsolete infantile epileptic encephalopathy primary hyperoxaluria quadriplegia schizophrenia visual epilepsy
5213	phosphofructokinase, muscle	PFKM PFK-1 PPP1R122 protein phosphatase 1, regulatory subunit 122	D-bifunctional protein deficiency adenocarcinoma adenoma anemia breast cancer breast carcinoma cancer carcinoma carnitine palmitoyltransferase I deficiency cholecystolithiasis choledocholithiasis cholelithiasis coronary artery disease cribriform carcinoma cystinuria diabetes mellitus disease of metabolism embryoma galactosemia giant cell glioblastoma glioblastoma glucosephosphate dehydrogenase deficiency glycogen storage disease IV glycogen storage disease IXa glycogen storage disease IXb glycogen storage disease IXc glycogen storage disease IXd glycogen storage disease Ia glycogen storage disease VI glycogen storage disease VII glycogen storage disease gout granular cell carcinoma hemolytic anemia hepatocellular carcinoma high grade glioma hyperglycemia hyperuricemia liver cancer liver carcinoma macrocytic anemia pancreatic cancer pancreatic carcinoma pseudosarcomatous fibromatosis renal tubular acidosis sarcomatoid carcinoma schizophrenia tuberculosis tubular adenocarcinoma type 2 diabetes mellitus
34	acyl-CoA dehydrogenase medium chain	ACADM ACAD1 MCAD MCADH medium-chain acyl-CoA dehydrogenase	D-bifunctional protein deficiency Reye syndrome brain edema breast cancer breast carcinoma cancer carnitine palmitoyltransferase I deficiency chromophobe renal cell carcinoma clear cell renal cell carcinoma collecting duct carcinoma colorectal cancer colorectal carcinoma congestive heart failure cystinuria diarrhea disease of metabolism distal arthrogryposis epilepsy familial periodic paralysis galactosemia gallbladder disease glucosephosphate dehydrogenase deficiency glycogen storage disease IXa glycogen storage disease IXb glycogen storage disease IXc glycogen storage disease IXd glycogen storage disease Ia glycogen storage disease hepatitis hydrocephalus hypoglycemia hypoglycemic coma inherited metabolic disorder isolated elevated serum creatine phosphokinase levels lactic acidosis large intestine cancer liver disease long QT syndrome medium chain acyl-CoA dehydrogenase deficiency metabolic dysfunction-associated steatotic liver disease myopathy neuroblastoma neurodegenerative disease nonpapillary renal cell carcinoma obesity papillary renal cell carcinoma perinatal necrotizing enterocolitis phenylketonuria pseudosarcomatous fibromatosis psoriatic arthritis renal carcinoma renal cell carcinoma sarcomatoid renal cell carcinoma sick sinus syndrome steatotic liver disease sudden infant death syndrome systemic primary carnitine deficiency disease urea cycle disorder visual epilepsy
1962	enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase	EHHADH	D-bifunctional protein deficiency Fanconi renotubular syndrome 3 Fanconi syndrome Laron syndrome Zollinger-Ellison syndrome achondroplasia amyloidosis bipolar disorder cancer carnitine palmitoyltransferase II deficiency cystinosis cystinuria cytochrome-c oxidase deficiency disease familial hyperinsulinemic hypoglycemia 1 familial hyperinsulinemic hypoglycemia 2 galactosemia gallbladder disease glucosephosphate dehydrogenase deficiency glycogen storage disease IXa glycogen storage disease IXb glycogen storage disease IXc glycogen storage disease IXd glycogen storage disease Ia glycogen storage disease hepatocellular carcinoma hyperinsulinemic hypoglycemia hyperinsulinism liver cancer liver disease mitochondrial trifunctional protein deficiency osteomalacia prostate cancer prostate carcinoma proteinuria rickets spondyloepimetaphyseal dysplasia, Sponastrime type substance abuse substance-related disorder tuberculosis
2639	glutaryl-CoA dehydrogenase	GCDH ACAD5 GCD	D-2-hydroxyglutaric aciduria 1 D-2-hydroxyglutaric aciduria Fleck corneal dystrophy alternating hemiplegia of childhood autonomic neuropathy basal ganglia disease blepharospasm brain disease brain ischemia central nervous system disease central nervous system origin vertigo cerebral palsy colorectal cancer colorectal carcinoma corneal dystrophy disease of metabolism dystonia epilepsy focal hand dystonia generalized dystonia glutaric acidemia I granular corneal dystrophy 2 hemiplegia hyperlysinemia hypoglycemia inherited metabolic disorder lactic acidosis large intestine cancer lattice corneal dystrophy lingual-facial-buccal dyskinesia liver cirrhosis malignant hyperthermia migraine movement disease nervous system disease oligohydramnios spastic diplegia spastic monoplegia spastic quadriplegic cerebral palsy speech disorder transient cerebral ischemia visual epilepsy
130589	galactose mutarotase	GALM aldose 1-epimerase aldose mutarotase galactomutarotase	Crohn's colitis Crohn's disease classic galactosemia colitis colorectal cancer colorectal carcinoma galactokinase deficiency galactosemia gastroenteritis ileitis ileocolitis inflammatory bowel disease 1 inflammatory bowel disease 2 inflammatory bowel disease large intestine cancer ulcerative colitis
144811	laccase domain containing 1	LACC1 FAMIN FLJ38725 fatty acid metabolism–immunity nexus	Crohn's colitis Crohn's disease anterior uveitis arthritis arthropathy exanthem inflammatory bowel disease 1 inflammatory bowel disease juvenile rheumatoid arthritis pericarditis ulcerative colitis
64090	galactose-3-O-sulfotransferase 2	GAL3ST2 GP3ST	Crohn's colitis Crohn's disease ankylosing spondylitis ascending cholangitis cholangitis inflammatory bowel disease 1 inflammatory bowel disease parapsoriasis primary sclerosing cholangitis prostate cancer prostate carcinoma psoriasis pustulosis of palm and sole sclerosing cholangitis suppurative cholangitis ulcerative colitis
10090	uronyl 2-sulfotransferase	UST 2OST	Crohn's colitis Crohn's disease ankylosing spondylitis arthritis arthropathy atrial fibrillation attention deficit hyperactivity disorder cancer endometriosis of ovary endometriosis of uterus endometriosis inflammatory bowel disease 1 inflammatory bowel disease osteoarthritis ulcerative colitis
51363	carbohydrate sulfotransferase 15	CHST15 B cell RAG associated protein BRAG GALNAC4S-6ST KIAA0598 N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase	Crohn's colitis Crohn's disease adult astrocytic tumor anaplastic astrocytoma breast cancer breast carcinoma cancer childhood astrocytic tumor childhood cerebral astrocytoma colitis embryoma endometrial cancer endometrial carcinoma esophageal cancer esophageal carcinoma esophagus squamous cell carcinoma fibrillary astrocytoma gastroenteritis gemistocytic astrocytoma giant cell glioblastoma glioblastoma high grade glioma idiopathic interstitial pneumonia ileitis ileocolitis inflammatory bowel disease 1 inflammatory bowel disease juvenile pilocytic astrocytoma lung benign neoplasm malignant astrocytoma microphthalmia obsolete Matthew-Wood syndrome ovarian cancer ovarian carcinoma pancreatic cancer pancreatic carcinoma pancreatic ductal adenocarcinoma patent ductus arteriosus pilocytic astrocytoma postinflammatory pulmonary fibrosis protoplasmic astrocytoma pulmonary fibrosis subependymal giant cell astrocytoma ulcerative colitis uterine corpus cancer
55600	intelectin 1	ITLN1 FLJ20022 HL-1 ITLN LFR hIntL omentin	Crohn's colitis Crohn's disease adenocarcinoma adenoma allergic asthma arteriosclerotic cardiovascular disease asthma atherosclerosis atopic dermatitis bacterial infectious disease benign mesothelioma cancer carcinoma coronary artery disease cribriform carcinoma dermatitis diabetes mellitus diabetic ketoacidosis granular cell carcinoma inflammatory bowel disease 1 inflammatory bowel disease intrinsic asthma malignant epithelial mesothelioma malignant mesothelioma multiple sclerosis neuroblastoma nutmeg liver obesity osteoporosis parapsoriasis pneumonia polycystic ovary syndrome primary biliary cholangitis psoriasis pustulosis of palm and sole sarcomatoid carcinoma stomach cancer stomach carcinoma tubular adenocarcinoma type 2 diabetes mellitus ulcerative colitis
5968	regenerating family member 1 beta	REG1B PSPS2 REGH REGI-BETA REGL lithostathine 1 beta secretory pancreatic stone protein 2	Crohn's colitis Crohn's disease acute pancreatitis bronchus cancer bronchus carcinoma cancer colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma diabetes mellitus diabetic ketoacidosis gastrointestinal system disease inflammatory bowel disease 1 inflammatory bowel disease intestinal disease kwashiorkor large intestine cancer lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma marasmus microphthalmia myocardial infarction nutrition disease obsolete Matthew-Wood syndrome obsolete type 1 diabetes mellitus 9 pancreatitis protein-energy malnutrition squamous cell carcinoma tongue squamous cell carcinoma type 1 diabetes mellitus 10 type 1 diabetes mellitus 11 type 1 diabetes mellitus 12 type 1 diabetes mellitus 13 type 1 diabetes mellitus 15 type 1 diabetes mellitus 17 type 1 diabetes mellitus 18 type 1 diabetes mellitus 19 type 1 diabetes mellitus 20 type 1 diabetes mellitus 21 type 1 diabetes mellitus 22 type 1 diabetes mellitus 23 type 1 diabetes mellitus 24 type 1 diabetes mellitus 2 type 1 diabetes mellitus 3 type 1 diabetes mellitus 4 type 1 diabetes mellitus 5 type 1 diabetes mellitus 6 type 1 diabetes mellitus 7 type 1 diabetes mellitus 8 type 1 diabetes mellitus type 2 diabetes mellitus ulcerative colitis
593	branched chain keto acid dehydrogenase E1 subunit alpha	BCKDHA MSU maple syrup urine disease	Crohn's colitis Crohn's disease acute pancreatitis arthritis arthropathy bacterial sepsis brain edema cerebral infarction cerebrovascular disease epilepsy gout hypoglycemia inflammatory bowel disease 1 inflammatory bowel disease intellectual disability lactic acidosis learning disability maple syrup urine disease pancreatitis placental insufficiency shigellosis trichohepatoenteric syndrome 1 trichohepatoenteric syndrome ulcerative colitis visual epilepsy
2525	fucosyltransferase 3 (Lewis blood group)	FUT3 CD174 galactoside 3(4)-L-fucosyltransferase	Crohn's colitis Crohn's disease achalasia adult respiratory distress syndrome alopecia anemia arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease atherosclerosis bile duct adenocarcinoma bile duct carcinoma bipolar disorder bone osteosarcoma breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer candidiasis carcinoma childhood leukemia childhood osteosarcoma cholangiocarcinoma chromophobe renal cell carcinoma clear cell renal cell carcinoma colitis collecting duct carcinoma colon adenocarcinoma colon carcinoma colorectal cancer colorectal carcinoma congenital diaphragmatic hernia coronary artery disease cystic fibrosis depressive disorder dilated cardiomyopathy 1A dilated cardiomyopathy embryoma esophagitis gastroenteritis gastroesophageal reflux disease herpes simplex hiatus hernia ileitis ileocolitis immunoglobulin alpha deficiency inflammatory bowel disease 1 inflammatory bowel disease intrahepatic cholangiocarcinoma invasive ductal carcinoma large intestine cancer leech infestation leukemia lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung disease macrocytic anemia major depressive disorder megaesophagus melancholic depression microphthalmia myiasis nonpapillary renal cell carcinoma nutmeg liver obsolete Matthew-Wood syndrome obsolete melancholia osteosarcoma pancreatic cancer pancreatic carcinoma papillary renal cell carcinoma peptic esophagitis primary sclerosing cholangitis prostate cancer prostate carcinoma renal carcinoma renal cell carcinoma rumination disorder sarcomatoid carcinoma sarcomatoid renal cell carcinoma sclerosing cholangitis selective IgA deficiency disease stomach cancer stomach carcinoma toxoplasmosis ulcerative colitis
8529	cytochrome P450 family 4 subfamily F member 2	CYP4F2	Crohn's colitis Crohn's disease abdominal obesity-metabolic syndrome 1 acute myocardial infarction adrenal carcinoma adrenal cortex cancer adrenocortical carcinoma adrenoleukodystrophy arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease atherosclerosis atrial fibrillation brain stem infarction cancer cardiovascular system disease cerebral artery occlusion cerebral infarction cerebrovascular disease coronary artery disease coronary thrombosis embryoma essential hypertension heart disease hepatocellular carcinoma hypertension inflammatory bowel disease 1 inflammatory bowel disease liver cancer myocardial infarction nutmeg liver obesity pancreatic ductal adenocarcinoma patent ductus arteriosus silent myocardial infarction steatotic liver disease thrombophilia ulcerative colitis varicose veins vascular disease

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