GlyCosmos Portal

Homo sapiens (human)

Summary

Taxonomy ID: 9606
PubChem Taxonomy: 9606

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

Displaying entries **351 - 375** of **1582** in total

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Gene ID	Gene Name	Gene Symbol ▼	Disease Ontology
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
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
79070	protein O-glucosyltransferase 2	POGLUT2 EP58 MGC5302	bipolar disorder
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
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
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
100528030	POC1B-GALNT4 readthrough	POC1B-GALNT4	colorectal cancer colorectal carcinoma large intestine cancer
375775	patatin like phospholipase domain containing 7	PNPLA7 FLJ31318 FLJ43070 FLJ44279 NTE-R1 NTEL1 RP11-48C7.2	Alzheimer's disease 10 Alzheimer's disease 11 Alzheimer's disease 12 Alzheimer's disease 13 Alzheimer's disease 14 Alzheimer's disease 15 Alzheimer's disease 1 Alzheimer's disease 2 Alzheimer's disease 5 Alzheimer's disease 6 Alzheimer's disease 7 Alzheimer's disease 8 Alzheimer's disease Pick's disease Reye syndrome blindness cerebellar ataxia cerebral degeneration hereditary spastic paraplegia neurodegenerative disease
10908	patatin like phospholipase domain containing 6	PNPLA6 NTE SPG39 iPLA2delta neuropathy target esterase sws	Bardet-Biedl syndrome Boucher-Neuhauser syndrome Brooke-Spiegler syndrome Charcot-Marie-Tooth disease type 5 Henoch-Schoenlein purpura Kallmann syndrome Klinefelter syndrome Laron syndrome Laurence-Moon syndrome Leber congenital amaurosis MASA syndrome MYH-9 related disease Mast syndrome Oliver-McFarlane syndrome Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Patau syndrome Peutz-Jeghers syndrome SPOAN syndrome Sheehan syndrome Stargardt disease Troyer syndrome achondroplasia adiposis dolorosa alopecia alternating hemiplegia of childhood amyotrophic lateral sclerosis type 1 amyotrophic lateral sclerosis type 2 amyotrophic lateral sclerosis type 4 amyotrophic lateral sclerosis anterior horn cell disease autonomic neuropathy autosomal dominant cerebellar ataxia autosomal recessive congenital ichthyosis 1 autosomal recessive distal hereditary motor neuronopathy 1 autosomal recessive polycystic kidney disease biliary tract disease blindness blue cone monochromacy cancer cataract cavernous hemangioma central nervous system disease cerebellar ataxia cerebellar disease chorioangioma coloboma cone-rod dystrophy congenital nystagmus craniosynostosis critical illness polyneuropathy cryptorchidism dementia depressive disorder diabetes mellitus diabetic autonomic neuropathy diabetic neuropathy diabetic polyneuropathy dissociated nystagmus dysthymic disorder embryoma epilepsy focal epilepsy fundus albipunctatus fundus dystrophy glomus tumor gynecomastia hemangioma hereditary spastic paraplegia 10 hereditary spastic paraplegia 11 hereditary spastic paraplegia 12 hereditary spastic paraplegia 13 hereditary spastic paraplegia 14 hereditary spastic paraplegia 15 hereditary spastic paraplegia 16 hereditary spastic paraplegia 17 hereditary spastic paraplegia 18 hereditary spastic paraplegia 19 hereditary spastic paraplegia 23 hereditary spastic paraplegia 24 hereditary spastic paraplegia 25 hereditary spastic paraplegia 26 hereditary spastic paraplegia 27 hereditary spastic paraplegia 28 hereditary spastic paraplegia 29 hereditary spastic paraplegia 2 hereditary spastic paraplegia 30 hereditary spastic paraplegia 31 hereditary spastic paraplegia 32 hereditary spastic paraplegia 34 hereditary spastic paraplegia 35 hereditary spastic paraplegia 36 hereditary spastic paraplegia 37 hereditary spastic paraplegia 38 hereditary spastic paraplegia 39 hereditary spastic paraplegia 3A hereditary spastic paraplegia 41 hereditary spastic paraplegia 42 hereditary spastic paraplegia 43 hereditary spastic paraplegia 44 hereditary spastic paraplegia 45 hereditary spastic paraplegia 46 hereditary spastic paraplegia 48 hereditary spastic paraplegia 49 hereditary spastic paraplegia 4 hereditary spastic paraplegia 53 hereditary spastic paraplegia 54 hereditary spastic paraplegia 55 hereditary spastic paraplegia 56 hereditary spastic paraplegia 57 hereditary spastic paraplegia 5A hereditary spastic paraplegia 61 hereditary spastic paraplegia 62 hereditary spastic paraplegia 63 hereditary spastic paraplegia 64 hereditary spastic paraplegia 6 hereditary spastic paraplegia 72A hereditary spastic paraplegia 73 hereditary spastic paraplegia 75 hereditary spastic paraplegia 77 hereditary spastic paraplegia 7 hereditary spastic paraplegia 8 hereditary spastic paraplegia 9A hereditary spastic paraplegia 9B hereditary spastic paraplegia histiocytoid hemangioma hypersensitivity vasculitis hypertrophy of breast hypertropia hypogonadism hypogonadotropic hypogonadism 1 with or without anosmia hypogonadotropic hypogonadism 10 with or without anosmia hypogonadotropic hypogonadism 11 with or without anosmia hypogonadotropic hypogonadism 12 with or without anosmia hypogonadotropic hypogonadism 13 with or without anosmia hypogonadotropic hypogonadism 14 with or without anosmia hypogonadotropic hypogonadism 16 with or without anosmia hypogonadotropic hypogonadism 17 with or without anosmia hypogonadotropic hypogonadism 18 with or without anosmia hypogonadotropic hypogonadism 19 with or without anosmia hypogonadotropic hypogonadism 2 with or without anosmia hypogonadotropic hypogonadism 20 with or without anosmia hypogonadotropic hypogonadism 21 with or without anosmia hypogonadotropic hypogonadism 22 with or without anosmia hypogonadotropic hypogonadism 3 with or without anosmia hypogonadotropic hypogonadism 4 with or without anosmia hypogonadotropic hypogonadism 5 with or without anosmia hypogonadotropic hypogonadism 6 with or without anosmia hypogonadotropic hypogonadism 7 with or without anosmia hypogonadotropic hypogonadism 8 with or without anosmia hypogonadotropic hypogonadism 9 with or without anosmia hypogonadotropic hypogonadism hypopituitarism ichthyosis infant gynecomastia inflammatory and toxic neuropathy intellectual disability intramuscular hemangioma isolated growth hormone deficiency type IA isolated growth hormone deficiency type IB isolated growth hormone deficiency type II isolated growth hormone deficiency type III isolated growth hormone deficiency keratosis follicularis kidney failure lateral sclerosis learning disability lipomatosis liver cirrhosis lymphangioma major depressive disorder mechanical strabismus melancholic depression meningoencephalitis migraine without aura mongolian spot motor neuron disease multiple symmetric lipomatosis muscular atrophy nervous system disease neuroblastoma neurodegenerative disease neuropathy neurotic disorder obesity obsolete asthenopia obsolete congenital ichthyosiform erythroderma obsolete melancholia obsolete multiple symmetrical lipomatosis obstructive jaundice ophthalmoplegia optic atrophy panhypopituitarism paraplegia partial motor epilepsy pathologic nystagmus peripheral nervous system disease placental insufficiency polycystic kidney disease 4 polydactyly polyneuropathy progressive muscular atrophy pseudoxanthoma elasticum recurrent hypersomnia retinal degeneration retinitis pigmentosa sensorineural hearing loss sick building syndrome speech disorder spontaneous ocular nystagmus steatotic liver disease strabismus type 2 diabetes mellitus viral infectious disease visual epilepsy von Hippel-Lindau disease
80339	patatin like phospholipase domain containing 3	PNPLA3 FLJ22012 adiponutrin dJ796I17.1 iPLA2epsilon	Chanarin-Dorfman syndrome Phelan-McDermid syndrome Wernicke-Korsakoff syndrome Wilson disease Zollinger-Ellison syndrome abdominal obesity-metabolic syndrome 1 acquired immunodeficiency syndrome acquired metabolic disease acute lymphoblastic leukemia adrenoleukodystrophy adult hepatocellular carcinoma adult liposarcoma alcohol dependence alcohol use disorder alcoholic hepatitis alcoholic liver cirrhosis allergic asthma arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease arthritis arthropathy asthma atherosclerosis bipolar disorder cancer cardiovascular system disease carotid artery disease celiac disease childhood hepatocellular carcinoma childhood liposarcoma cholecystolithiasis choledocholithiasis cholelithiasis chronic kidney disease congenital hypothyroidism coronary artery disease diabetes mellitus diabetic ketoacidosis disease of metabolism embryoma familial hyperlipidemia gallbladder disease gestational diabetes glucose intolerance heart disease hemochromatosis type 1 hemochromatosis hepatitis B hepatitis C hepatitis hepatocellular carcinoma human immunodeficiency virus infectious disease hyperglycemia hyperinsulinism hypertrophic cardiomyopathy 1 hypothyroidism inflammatory bowel disease intrahepatic cholestasis of pregnancy intrinsic asthma iron metabolism disease kidney failure liposarcoma liver cancer liver carcinoma liver cirrhosis liver disease lymphoblastic lymphoma metabolic dysfunction-associated steatotic liver disease mood disorder morbid obesity myxedema obesity obsolete type 1 diabetes mellitus 9 osteoarthritis pleomorphic liposarcoma polycystic ovary syndrome portal hypertension prediabetes syndrome premenstrual tension primary biliary cholangitis primary sclerosing cholangitis sclerosing cholangitis steatotic liver disease 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 viral infectious disease
57104	patatin like phospholipase domain containing 2	PNPLA2 ATGL FP17548 TTS-2.2 desnutrin iPLA2zeta	Alzheimer's disease 10 Alzheimer's disease 11 Alzheimer's disease 12 Alzheimer's disease 13 Alzheimer's disease 14 Alzheimer's disease 15 Alzheimer's disease 1 Alzheimer's disease 2 Alzheimer's disease 5 Alzheimer's disease 6 Alzheimer's disease 7 Alzheimer's disease 8 Alzheimer's disease Barth syndrome Chanarin-Dorfman syndrome Ehlers-Danlos syndrome Kuhnt-Junius degeneration Laron syndrome Pick's disease Reye syndrome Zollinger-Ellison syndrome abdominal obesity-metabolic syndrome 1 acanthosis nigricans achondroplasia acquired metabolic disease acute myocardial infarction acute promyelocytic leukemia adenocarcinoma adenoma adenosarcoma adult liposarcoma age related macular degeneration agnosia anogenital venereal wart arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease atherosclerosis autosomal recessive congenital ichthyosis 1 bacterial sepsis bladder carcinoma bone disease bone osteosarcoma breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer cardiomyopathy cardiovascular system disease cartilage disease cavernous hemangioma celiac disease central nervous system cancer cerebral degeneration childhood liposarcoma childhood osteosarcoma cholecystitis chorioangioma chylomicron retention disease colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma common wart cone-rod dystrophy congenital generalized lipodystrophy type 1 congenital generalized lipodystrophy type 2 congenital generalized lipodystrophy type 3 congenital generalized lipodystrophy type 4 congenital generalized lipodystrophy congestive heart failure connective tissue disease coronary artery disease coronary thrombosis cribriform carcinoma degeneration of macula and posterior pole depressive disorder developmental coordination disorder diabetes mellitus diabetic cataract diabetic ketoacidosis diabetic retinopathy dilated cardiomyopathy 1A dilated cardiomyopathy disease of metabolism dysthymic disorder embryoma endometrial hyperplasia endomyocardial fibrosis epithelioid leiomyosarcoma exudative vitreoretinopathy 1 exudative vitreoretinopathy eye disease familial combined hyperlipidemia familial hyperlipidemia familial lipoprotein lipase deficiency familial periodic paralysis familial retinoblastoma fibromyalgia fundus albipunctatus gestational diabetes gliosarcoma glomus tumor glucose intolerance glycogen storage disease II granular cell carcinoma heart disease hemangioma hepatoblastoma hepatocellular carcinoma high grade glioma histiocytoid hemangioma hyperinsulinism hyperlipoproteinemia type V hypertrophic cardiomyopathy ichthyosis impotence intramuscular hemangioma isolated elevated serum creatine phosphokinase levels keratosis follicularis large intestine cancer leiomyosarcoma leukostasis lipoatrophic diabetes mellitus lipodystrophy liposarcoma liver cancer lung benign neoplasm lung cancer lung carcinoma lymphangioma macular degeneration major depressive disorder melancholic depression melanoma microphthalmia mixed glioma mongolian spot myocardial infarction myopathy myositis myxoid leiomyosarcoma nasopharynx carcinoma nephroblastoma neuropathy neurotic disorder nicotine dependence obesity obsolete Matthew-Wood syndrome obsolete congenital ichthyosiform erythroderma obsolete melancholia ocular melanoma osteogenesis imperfecta type 10 osteogenesis imperfecta type 11 osteogenesis imperfecta type 12 osteogenesis imperfecta type 13 osteogenesis imperfecta type 14 osteogenesis imperfecta type 15 osteogenesis imperfecta type 16 osteogenesis imperfecta type 17 osteogenesis imperfecta type 1 osteogenesis imperfecta type 2 osteogenesis imperfecta type 3 osteogenesis imperfecta type 4 osteogenesis imperfecta type 5 osteogenesis imperfecta type 6 osteogenesis imperfecta type 7 osteogenesis imperfecta type 8 osteogenesis imperfecta type 9 osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures osteogenesis imperfecta osteosarcoma ovarian cancer ovarian carcinoma pancreatic cancer pancreatic carcinoma pancreatic ductal adenocarcinoma peripheral nervous system disease pleomorphic liposarcoma polycystic ovary syndrome prediabetes syndrome premature ejaculation primary ciliary dyskinesia 1 primary ciliary dyskinesia proliferative diabetic retinopathy prostate cancer prostate carcinoma pseudoxanthoma elasticum psychologic dyspareunia rectal benign neoplasm rectum adenocarcinoma rectum cancer retinal disease retinitis pigmentosa retinitis retinoblastoma retinopathy of prematurity rhabdomyosarcoma rheumatoid arthritis schizophrenia sensorineural hearing loss silent myocardial infarction skin melanoma steatotic liver disease stomach cancer stomach carcinoma systemic primary carnitine deficiency disease trilateral retinoblastoma tubular adenocarcinoma type 2 diabetes mellitus urinary bladder cancer
4860	purine nucleoside phosphorylase	PNP PUNP	Alzheimer's disease 10 Alzheimer's disease 11 Alzheimer's disease 12 Alzheimer's disease 13 Alzheimer's disease 14 Alzheimer's disease 15 Alzheimer's disease 1 Alzheimer's disease 2 Alzheimer's disease 5 Alzheimer's disease 6 Alzheimer's disease 7 Alzheimer's disease 8 Alzheimer's disease Chagas disease Evans' syndrome Huntington's disease-like 1 Huntington's disease-like 2 Huntington's disease Lesch-Nyhan syndrome MELAS syndrome MHC class II deficiency Nezelof syndrome Omenn syndrome Pick's disease Reye syndrome Richter's syndrome T cell deficiency acute lymphoblastic leukemia adenosine deaminase deficiency adult lymphoma agammaglobulinemia agnosia alternating hemiplegia of childhood anemia arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease atherosclerosis autoimmune disease autoimmune hemolytic anemia autoimmune lymphoproliferative syndrome autoimmune thrombocytopenic purpura autonomic neuropathy bladder carcinoma breast cancer breast carcinoma cancer carcinoma carotid artery disease central nervous system disease central nervous system lymphoma central nervous system vasculitis central retinal vein occlusion cerebral degeneration cerebral malaria cerebral palsy childhood acute lymphocytic leukemia childhood lymphoma chronic lymphocytic leukemia colon cancer colon carcinoma colonic benign neoplasm colorectal cancer combined T cell and B cell immunodeficiency coronary artery disease critical illness polyneuropathy cutaneous leishmaniasis cyclic hematopoiesis developmental coordination disorder diabetic cataract diabetic retinopathy disease of metabolism embryoma esophageal cancer esophageal carcinoma fetal erythroblastosis gangliosidosis giant cell glioblastoma glioblastoma granulomatous angiitis head and neck squamous cell carcinoma hematologic cancer hepatocellular carcinoma herpes simplex high grade glioma hyperuricemia immune system disease inflammatory and toxic neuropathy intellectual disability large intestine cancer learning disability liver cancer locked-in syndrome lupus erythematosus lymphoblastic lymphoma lymphoma lymphopenia macrocytic anemia malaria maxillary sinus squamous cell carcinoma melanoma meningoencephalitis molybdenum cofactor deficiency type A monoclonal gammopathy of uncertain significance nervous system disease neuroblastoma neurodegenerative disease neuropathy obsolete T lymphocyte deficiency obsolete T-cell lymphoblastic leukemia/lymphoma obsolete ymphosarcoma osteoporosis otitis media ovarian cancer ovarian carcinoma pancreatic adenocarcinoma pancreatic cancer pancreatic carcinoma periodontal disease periodontitis peripheral T-cell lymphoma peripheral nervous system disease phosphoribosylpyrophosphate synthetase superactivity pneumonia polyneuropathy primary immunodeficiency disease prostate cancer prostate carcinoma purine nucleoside phosphorylase deficiency purine-pyrimidine metabolic disorder quadriplegia reflex sympathetic dystrophy retinal vein occlusion sarcomatoid carcinoma severe combined immunodeficiency sinusitis skin melanoma spastic diplegia spastic monoplegia spastic quadriplegic cerebral palsy substance abuse substance-related disorder systemic lupus erythematosus thyroid gland medullary carcinoma trypanosomiasis tuberculosis urinary bladder cancer urinary tract obstruction vascular disease
119548	pancreatic lipase related protein 3	PNLIPRP3	hepatocellular carcinoma liver cancer
5408	pancreatic lipase related protein 2 (gene/pseudogene)	PNLIPRP2 PLRP2	acute pancreatitis pancreatitis
5407	pancreatic lipase related protein 1	PNLIPRP1 PLRP1	breast cancer prostate cancer
5406	pancreatic lipase	PNLIP PL triacylglycerol lipase	acute myeloid leukemia acute pancreatitis cancer central nervous system cancer diabetes mellitus gliosarcoma high grade glioma mixed glioma obesity obsolete steatorrhea pancreatic cancer pancreatic carcinoma pancreatitis thrombocytopenia tropical sprue type 2 diabetes mellitus
5373	phosphomannomutase 2	PMM2 CDG1a CDGS Congenital disorder of glycosylation, type Ia PMI PMI1 mannose-6-phosphate isomerase phosphomannose isomerase 1	Alzheimer's disease 10 Alzheimer's disease 11 Alzheimer's disease 12 Alzheimer's disease 13 Alzheimer's disease 14 Alzheimer's disease 15 Alzheimer's disease 1 Alzheimer's disease 2 Alzheimer's disease 5 Alzheimer's disease 6 Alzheimer's disease 7 Alzheimer's disease 8 Alzheimer's disease Dandy-Walker syndrome Duchenne muscular dystrophy Hailey-Hailey disease Kallmann syndrome Marfan syndrome Meckel syndrome Pick's disease Reye syndrome Rothmund-Thomson syndrome Sheehan syndrome West syndrome Zollinger-Ellison syndrome acute myeloid leukemia acute myocardial infarction androgen insensitivity syndrome antithrombin III deficiency anxiety disorder aspiration pneumonia aspiration pneumonitis autosomal dominant Emery-Dreifuss muscular dystrophy 2 autosomal dominant cutis laxa 1 autosomal dominant cutis laxa 2 autosomal dominant cutis laxa 3 autosomal dominant cutis laxa 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 dominant polycystic kidney disease autosomal recessive chronic granulomatous disease 1 autosomal recessive cutis laxa type IA autosomal recessive cutis laxa type IB autosomal recessive cutis laxa type II classic type autosomal recessive cutis laxa type IIA autosomal recessive cutis laxa type IIB autosomal recessive cutis laxa type IIC autosomal recessive cutis laxa type IID autosomal recessive cutis laxa type IIIA autosomal recessive cutis laxa type IIIB 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 brain ischemia cancer cardiomyopathy cardiovascular system disease cataract cerebellar ataxia cerebellar disease cerebral degeneration cerebral palsy chronic granulomatous disease clubfoot coloboma of optic nerve colorectal cancer colorectal carcinoma cone-rod dystrophy congenital diaphragmatic hernia congenital disorder of glycosylation Ia congenital disorder of glycosylation Ib congenital disorder of glycosylation Id congenital disorder of glycosylation Ie congenital disorder of glycosylation In congenital disorder of glycosylation Iq congenital disorder of glycosylation type I congenital disorder of glycosylation congenital generalized lipodystrophy type 1 congenital generalized lipodystrophy type 2 congenital generalized lipodystrophy type 3 congenital generalized lipodystrophy type 4 congenital hypothyroidism congenital muscular dystrophy congenital nystagmus coronary thrombosis critical illness polyneuropathy cryptorchidism cutis laxa cystic kidney disease developmental and epileptic encephalopathy 36 diabetes mellitus diabetic autonomic neuropathy diabetic ketoacidosis diabetic neuropathy diabetic polyneuropathy diarrhea disease of metabolism dissociated nystagmus distal myopathy egg allergy elephantiasis embryoma endomyocardial fibrosis epilepsy esotropia essential hypertension facioscapulohumeral muscular dystrophy familial hemiplegic migraine 1 familial hemiplegic migraine familial hyperinsulinemic hypoglycemia 1 familial hyperinsulinemic hypoglycemia 2 familial hypertrophic cardiomyopathy familial nephrotic syndrome fundus albipunctatus gallbladder disease generalized anxiety disorder heart disease hemiplegia hemopericardium hyperinsulinemic hypoglycemia hyperinsulinism hypertension hypertrophic cardiomyopathy hypertropia hypogonadism hypogonadotropic hypogonadism 1 with or without anosmia hypogonadotropic hypogonadism 10 with or without anosmia hypogonadotropic hypogonadism 11 with or without anosmia hypogonadotropic hypogonadism 12 with or without anosmia hypogonadotropic hypogonadism 13 with or without anosmia hypogonadotropic hypogonadism 14 with or without anosmia hypogonadotropic hypogonadism 16 with or without anosmia hypogonadotropic hypogonadism 17 with or without anosmia hypogonadotropic hypogonadism 18 with or without anosmia hypogonadotropic hypogonadism 19 with or without anosmia hypogonadotropic hypogonadism 2 with or without anosmia hypogonadotropic hypogonadism 20 with or without anosmia hypogonadotropic hypogonadism 21 with or without anosmia hypogonadotropic hypogonadism 22 with or without anosmia hypogonadotropic hypogonadism 3 with or without anosmia hypogonadotropic hypogonadism 4 with or without anosmia hypogonadotropic hypogonadism 5 with or without anosmia hypogonadotropic hypogonadism 6 with or without anosmia hypogonadotropic hypogonadism 7 with or without anosmia hypogonadotropic hypogonadism 8 with or without anosmia hypogonadotropic hypogonadism 9 with or without anosmia hypogonadotropic hypogonadism hypopituitarism hypothyroidism inflammatory and toxic neuropathy inherited metabolic disorder intellectual disability isolated growth hormone deficiency type IA isolated growth hormone deficiency type IB isolated growth hormone deficiency type II isolated growth hormone deficiency type III isolated growth hormone deficiency large intestine cancer learning disability limb-girdle muscular dystrophy lingual-facial-buccal dyskinesia lipoatrophic diabetes mellitus lipodystrophy lipoid nephrosis liver cirrhosis liver disease lung adenocarcinoma lung cancer lymphedema mal de Meleda marasmus mechanical strabismus meningoencephalitis microcephaly migraine with aura monocular esotropia movement disease muscular dystrophy myocardial infarction myofibrillar myopathy 1 myofibrillar myopathy 3 myopia myxedema nephrotic syndrome neuropathy non-congenital cyst of kidney 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 oculopharyngeal muscular dystrophy olivopontocerebellar atrophy open-angle glaucoma ophthalmoplegia osteoporosis panhypopituitarism pathologic nystagmus pericardial effusion pericarditis peripheral nervous system disease periventricular leukomalacia phobic disorder polyhydramnios polyneuropathy premature menopause primary open angle glaucoma primary ovarian insufficiency protein C deficiency protein S deficiency proteinuria pulmonary valve stenosis restrictive dermopathy retinitis pigmentosa rippling muscle disease 2 schizophrenia scoliosis silent myocardial infarction situs inversus spastic diplegia spastic monoplegia spastic quadriplegic cerebral palsy spontaneous ocular nystagmus steatotic liver disease strabismus thrombocytopenia thrombocytosis thrombophilia tuberous sclerosis type 2 diabetes mellitus visual epilepsy visual pathway disease
5372	phosphomannomutase 1	PMM1 Sec53 brain glucose-1,6-bisphosphatase	congenital disorder of glycosylation Ia congenital disorder of glycosylation type I hepatitis
84513	phospholipid phosphatase 5	PLPP5 DPPL1 HTPAP diacylglycerol pyrophosphate phosphatase-like 1	breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer depressive disorder hepatocellular carcinoma liver cancer lung benign neoplasm lung cancer lung carcinoma lung small cell carcinoma major depressive disorder melancholic depression obsolete melancholia pancreatic adenocarcinoma
196051	phospholipid phosphatase 4	PLPP4 DPPL2 diacylglycerol pyrophosphate phosphatase-like 2	Alzheimer's disease 10 Alzheimer's disease 11 Alzheimer's disease 12 Alzheimer's disease 13 Alzheimer's disease 14 Alzheimer's disease 15 Alzheimer's disease 1 Alzheimer's disease 2 Alzheimer's disease 5 Alzheimer's disease 6 Alzheimer's disease 7 Alzheimer's disease 8 Alzheimer's disease Pick's disease Reye syndrome breast cancer bronchus cancer bronchus carcinoma cerebral degeneration lung cancer lung carcinoma lung squamous cell carcinoma prostate cancer prostate carcinoma
8613	phospholipid phosphatase 3	PLPP3 LPP3 PAP-2b	acute myocardial infarction aortic valve disease 1 aortic valve disease aortic valve stenosis arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease atherosclerosis bicuspid aortic valve disease cancer cardiovascular system disease cerebral infarction cerebrovascular disease colon cancer colonic benign neoplasm congestive heart failure coronary artery disease coronary thrombosis embryoma giant cell glioblastoma glioblastoma heart disease high grade glioma myocardial infarction nutmeg liver silent myocardial infarction
8612	phospholipid phosphatase 2	PLPP2 LPP2 PAP-2c	cancer carcinoma embryoma sarcoma sarcomatoid carcinoma squamous cell carcinoma tongue squamous cell carcinoma
8611	phospholipid phosphatase 1	PLPP1 LPP1 PAP-2a	breast cancer breast carcinoma cancer cervical adenocarcinoma cervical cancer cervix carcinoma embryoma giant cell glioblastoma glioblastoma hepatitis B high grade glioma ovarian cancer ovarian carcinoma prostate adenocarcinoma schizophrenia stomach cancer stomach carcinoma
8985	procollagen-lysine,2-oxoglutarate 5-dioxygenase 3	PLOD3 LH3 Multifunctional procollagen lysine hydroxylase and glycosyltransferase LH3 lysyl hydroxlase 3	bone disease bronchus cancer bronchus carcinoma cancer cartilage disease cataract central nervous system cancer central nervous system lymphoma clubfoot collagen disease congenital hypothyroidism connective tissue disease diaphragmatic eventration embryoma epidermolysis bullosa simplex Dowling-Meara type epidermolysis bullosa simplex Ogna type epidermolysis bullosa simplex with muscular dystrophy epidermolysis bullosa simplex epidermolysis bullosa esophageal cancer esophageal carcinoma gamma-glutamyl transpeptidase deficiency giant cell glioblastoma glioblastoma gliosarcoma hepatocellular carcinoma high grade glioma hypothyroidism liver cancer lung benign neoplasm lung cancer lung carcinoma lymphoma mixed glioma myopia myxedema nonsyndromic congenital nail disorder 9 obsolete ymphosarcoma placental insufficiency scoliosis sensorineural hearing loss thoracic aortic aneurysm
349633	placenta expressed transcript 1	PLET1 placenta-expressed transcript 1	cancer embryoma

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