GlyCosmos Portal

Homo sapiens (human)

Summary

Taxonomy ID: 9606
PubChem Taxonomy: 9606

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

Displaying entries **1226 - 1250** of **1582** in total

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Gene ID	Gene Name	Gene Symbol ▲	Disease Ontology
100528030	POC1B-GALNT4 readthrough	POC1B-GALNT4	colorectal cancer colorectal carcinoma large intestine cancer
23509	protein O-fucosyltransferase 1	POFUT1 FUT12 GDP-fucose protein O-fucosyltransferase 1 KIAA0180 O-FUT O-Fuc-T peptide-O-fucosyltransferase	Dowling-Degos disease acrodermatitis actinic keratosis acute myocardial infarction bone marrow cancer breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer carcinoma chronic obstructive pulmonary disease colorectal cancer colorectal carcinoma congestive heart failure coronary artery anomaly coronary thrombosis dermatitis gallbladder disease hepatocellular carcinoma invasive ductal carcinoma large intestine cancer liver cancer liver disease lung benign neoplasm lung cancer lung carcinoma microcephaly myeloproliferative neoplasm myocardial infarction reticulate acropigmentation of Kitamura schizophrenia seborrheic keratosis silent myocardial infarction skin disease
23275	protein O-fucosyltransferase 2	POFUT2 FUT13 GDP-fucose protein O-fucosyltransferase 2 KIAA0958 peptide-O-fucosyltransferase	Down syndrome Peters plus syndrome congenital disorder of glycosylation malaria popliteal pterygium syndrome schizophrenia
56983	protein O-glucosyltransferase 1	POGLUT1 9630046K23Rik KDELC family like 1 KDELCL1 MDS010 MDSRP MGC32995 Rumi hCLP46	Dowling-Degos disease Duchenne muscular dystrophy T-cell acute lymphoblastic leukemia T-cell adult acute lymphocytic leukemia 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 type 2Z autosomal recessive limb-girdle muscular dystrophy cancer childhood T-cell acute lymphoblastic leukemia childhood leukemia colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma congenital muscular dystrophy distal myopathy embryoma essential thrombocythemia facioscapulohumeral muscular dystrophy hematopoietic system disease isolated elevated serum creatine phosphokinase levels keratosis follicularis large intestine cancer leukemia limb-girdle muscular dystrophy lung cancer lung non-small cell carcinoma mongolian spot muscular dystrophy myelodysplastic syndrome 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 oculopharyngeal muscular dystrophy primary biliary cholangitis pseudoxanthoma elasticum reticulate acropigmentation of Kitamura rippling muscle disease 2
79070	protein O-glucosyltransferase 2	POGLUT2 EP58 MGC5302	bipolar disorder
143888	protein O-glucosyltransferase 3	POGLUT3 MGC33424	chromophobe renal cell carcinoma clear cell renal cell carcinoma collecting duct carcinoma myofibroma papillary renal cell carcinoma renal carcinoma renal cell carcinoma sarcomatoid renal cell carcinoma uterine fibroid
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
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
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
10585	protein O-mannosyltransferase 1	POMT1 LGMD2K dolichyl-phosphate-mannose-protein mannosyltransferase	Axenfeld-Rieger syndrome Bell's palsy Dandy-Walker syndrome Duchenne muscular dystrophy Fukuyama congenital muscular dystrophy Joubert syndrome Marfan 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 brain cancer brain disease buphthalmos campomelic dysplasia cardiomyopathy cataract centronuclear myopathy cleft lip cleft palate clubfoot 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 congenital myopathy 1A congenital myopathy 4A congenital structural myopathy cornea plana cortical dysplasia-focal epilepsy syndrome craniometaphyseal dysplasia cryptorchidism developmental coordination disorder distal myopathy endomyocardial fibrosis epilepsy facial nerve disease facial paralysis facioscapulohumeral muscular dystrophy familial periodic paralysis fibromyalgia fundus albipunctatus fundus dystrophy glaucoma holoprosencephaly 1 holoprosencephaly hydranencephaly hydrocephalus hydrophthalmos hypertrophic cardiomyopathy hypertropia imperforate anus intellectual disability isolated cleft palate isolated elevated serum creatine phosphokinase levels learning disability limb-girdle muscular dystrophy lissencephaly locked-in syndrome mechanical strabismus megaconial type congenital muscular dystrophy megalocornea meningocele microcephaly microphthalmia muscular dystrophy-dystroglycanopathy type B1 muscular dystrophy-dystroglycanopathy type B5 muscular dystrophy-dystroglycanopathy type B6 muscular dystrophy-dystroglycanopathy muscular dystrophy myofibrillar myopathy 1 myofibrillar myopathy 3 myopathy myopia myositis nemaline myopathy neuromuscular disease 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 peripheral retinal degeneration placental insufficiency pontocerebellar hypoplasia type 2D pontocerebellar hypoplasia type 7 pontocerebellar hypoplasia type 8 pontocerebellar hypoplasia type 9 quadriplegia recurrent corneal erosion renal agenesis retinal detachment retinitis pigmentosa rigid spine muscular dystrophy 1 rippling muscle disease 2 scoliosis senile degeneration of brain sensorineural hearing loss septooptic dysplasia short-rib thoracic dysplasia 14 with polydactyly situs inversus speech disorder strabismus syndromic X-linked intellectual disability 94 syndromic X-linked intellectual disability Najm type tuberous sclerosis visual epilepsy
29954	protein O-mannosyltransferase 2	POMT2 Dolichyl-phosphate-mannose--protein mannosyltransferase LGMD2N	Axenfeld-Rieger syndrome Bell's palsy Dandy-Walker syndrome Duchenne muscular dystrophy Fukuyama congenital muscular dystrophy Joubert syndrome Marfan syndrome Miller-Dieker lissencephaly syndrome Peters anomaly Walker-Warburg syndrome X-linked dilated cardiomyopathy 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 buphthalmos campomelic dysplasia cancer cataract cleft lip cleft palate coloboma communicating hydrocephalus complex cortical dysplasia with other brain malformations 1 complex cortical dysplasia with other brain malformations 7 cone-rod dystrophy congenital muscular dystrophy-dystroglycanopathy type A1 congenital muscular dystrophy-dystroglycanopathy type A2 congenital muscular dystrophy cornea plana cortical dysplasia-focal epilepsy syndrome craniometaphyseal dysplasia cryptorchidism cystic kidney disease developmental coordination disorder dilated cardiomyopathy 1AA dilated cardiomyopathy 1B dilated cardiomyopathy 1BB dilated cardiomyopathy 1C dilated cardiomyopathy 1CC dilated cardiomyopathy 1D dilated cardiomyopathy 1DD dilated cardiomyopathy 1E dilated cardiomyopathy 1EE dilated cardiomyopathy 1FF dilated cardiomyopathy 1G dilated cardiomyopathy 1GG dilated cardiomyopathy 1H dilated cardiomyopathy 1HH dilated cardiomyopathy 1I dilated cardiomyopathy 1II dilated cardiomyopathy 1JJ dilated cardiomyopathy 1K dilated cardiomyopathy 1KK dilated cardiomyopathy 1L dilated cardiomyopathy 1M dilated cardiomyopathy 1NN dilated cardiomyopathy 1O dilated cardiomyopathy 1P dilated cardiomyopathy 1Q dilated cardiomyopathy 1R dilated cardiomyopathy 1S dilated cardiomyopathy 1T dilated cardiomyopathy 1U dilated cardiomyopathy 1V dilated cardiomyopathy 1W dilated cardiomyopathy 1X dilated cardiomyopathy 1Y dilated cardiomyopathy 1Z dilated cardiomyopathy 2A dilated cardiomyopathy 2B dilated cardiomyopathy distal myopathy embryoma epilepsy facial nerve disease facial paralysis facioscapulohumeral muscular dystrophy familial periodic paralysis fundus albipunctatus glaucoma holoprosencephaly 1 holoprosencephaly hydranencephaly hydrocephalus hydrophthalmos hyperopia hypertropia imperforate anus intellectual disability isolated cleft palate isolated elevated serum creatine phosphokinase levels learning disability limb-girdle muscular dystrophy lissencephaly mechanical strabismus megalocornea meningocele microcephaly microphthalmia muscular dystrophy-dystroglycanopathy type B1 muscular dystrophy-dystroglycanopathy type B2 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 ophthalmoplegia optic atrophy peripheral retinal degeneration pontocerebellar hypoplasia type 2D pontocerebellar hypoplasia type 7 pontocerebellar hypoplasia type 8 pontocerebellar hypoplasia type 9 recurrent corneal erosion renal agenesis retinal detachment retinitis pigmentosa rippling muscle disease 2 scoliosis senile degeneration of brain septooptic dysplasia short-rib thoracic dysplasia 14 with polydactyly situs inversus speech disorder strabismus syndromic X-linked intellectual disability 94 syndromic X-linked intellectual disability Najm type tuberous sclerosis visual epilepsy
5465	peroxisome proliferator activated receptor alpha	PPARA	Alzheimer's disease alcoholic hepatitis coronary artery disease cystic fibrosis hepatocellular carcinoma hydrocephalus hypertension hypertensive encephalopathy lipid metabolism disorder myocardial infarction obesity periodontitis schizophrenia steatotic liver disease
5467	peroxisome proliferator activated receptor delta	PPARD	biliary tract cancer pancreatic cancer type 2 diabetes mellitus
10891	PPARG coactivator 1 alpha	PPARGC1A	Alzheimer's disease Huntington's disease Parkinson's disease abdominal obesity-metabolic syndrome age related macular degeneration amblyopia amyotrophic lateral sclerosis cardiovascular system disease chronic obstructive pulmonary disease colitis congenital hypothyroidism diabetic retinopathy dilated cardiomyopathy heart disease hyperglycemia hyperthyroidism kidney cancer kidney failure macular degeneration malignant fibrous histiocytoma melanoma metabolic dysfunction-associated steatotic liver disease myocardial infarction nephrotic syndrome obesity placental insufficiency prediabetes syndrome primary biliary cholangitis renal fibrosis sciatic neuropathy steatotic liver disease type 2 diabetes mellitus
5471	phosphoribosyl pyrophosphate amidotransferase	PPAT GPAT PRAT	alcohol dependence alcohol use disorder breast cancer chromophobe renal cell carcinoma clear cell renal cell carcinoma collecting duct carcinoma hepatoblastoma hepatocellular carcinoma liver cancer ovarian cancer ovarian carcinoma papillary renal cell carcinoma renal carcinoma renal cell carcinoma sarcomatoid renal cell carcinoma stomach cancer stomach carcinoma
5499	protein phosphatase 1 catalytic subunit alpha	PPP1CA	cancer type 2 diabetes mellitus
5500	protein phosphatase 1 catalytic subunit beta	PPP1CB	Noonan syndrome-like disorder with loose anagen hair 2 cancer
5501	protein phosphatase 1 catalytic subunit gamma	PPP1CC	cancer congestive heart failure type 2 diabetes mellitus
5502	protein phosphatase 1 regulatory inhibitor subunit 1A	PPP1R1A
5504	protein phosphatase 1 regulatory inhibitor subunit 2	PPP1R2
5506	protein phosphatase 1 regulatory subunit 3A	PPP1R3A GM glycogen-associated regulatory subunit of protein phosphatase-1 protein phosphatase 1 regulatory subunit GM	Alzheimer's disease adult lymphoma atrial fibrillation atypical chronic myeloid leukemia, BCR-ABL1 negative breast cancer cancer carcinoma central nervous system lymphoma childhood lymphoma chronic monocytic leukemia colorectal cancer colorectal carcinoma communication disorder congestive heart failure diabetes mellitus diabetic ketoacidosis embryoma glucose intolerance hematologic cancer hypoglycemia language disorder large intestine cancer laryngeal squamous cell carcinoma lymphoid leukemia lymphoma myeloid leukemia obsolete ymphosarcoma prediabetes syndrome prostate cancer prostate carcinoma sarcomatoid carcinoma type 2 diabetes mellitus
79660	protein phosphatase 1 regulatory subunit 3B	PPP1R3B FLJ14005 GL PP1 subunit R4 PPP1R4 hepatic glycogen-targeting subunit, G(L)	Lafora disease alcohol use disorder antithrombin III deficiency arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease atherosclerosis breast cancer breast carcinoma cancer coronary artery disease depressive disorder diabetes mellitus dysthymic disorder embryoma head and neck cancer major depressive disorder maturity-onset diabetes of the young melancholic depression melanoma neurotic disorder obesity obsolete melancholia post-traumatic stress disorder protein C deficiency protein S deficiency skin melanoma steatotic liver disease thrombophilia type 2 diabetes mellitus
5507	protein phosphatase 1 regulatory subunit 3C	PPP1R3C PTG Phosphatase 1, regulatory inhibitor subunit 5 protein targeting to glycogen	alcohol use disorder antithrombin III deficiency breast cancer cancer colorectal cancer colorectal carcinoma depressive disorder diabetes mellitus dysthymic disorder embryoma head and neck cancer hepatocellular carcinoma large intestine cancer liver cancer major depressive disorder melancholic depression neurotic disorder obsolete melancholia post-traumatic stress disorder protein C deficiency protein S deficiency steatotic liver disease thrombophilia type 2 diabetes mellitus
5509	protein phosphatase 1 regulatory subunit 3D	PPP1R3D
90673	protein phosphatase 1 regulatory subunit 3E	PPP1R3E

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