GlyCosmos Portal

Homo sapiens (human)

Summary

Taxonomy ID: 9606
PubChem Taxonomy: 9606

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

Displaying entries **1101 - 1125** of **1582** in total

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Gene ID	Gene Name ▲	Gene Symbol	Disease Ontology
146183	otoancorin	OTOA CT108 cancer/testis antigen 108	X-linked nonsyndromic deafness alpha 1-antitrypsin deficiency autosomal dominant auditory neuropathy 1 autosomal dominant nonsyndromic deafness 10 autosomal dominant nonsyndromic deafness 11 autosomal dominant nonsyndromic deafness 12 autosomal dominant nonsyndromic deafness 13 autosomal dominant nonsyndromic deafness 15 autosomal dominant nonsyndromic deafness 16 autosomal dominant nonsyndromic deafness 17 autosomal dominant nonsyndromic deafness 18 autosomal dominant nonsyndromic deafness 1 autosomal dominant nonsyndromic deafness 20 autosomal dominant nonsyndromic deafness 21 autosomal dominant nonsyndromic deafness 22 autosomal dominant nonsyndromic deafness 23 autosomal dominant nonsyndromic deafness 24 autosomal dominant nonsyndromic deafness 25 autosomal dominant nonsyndromic deafness 27 autosomal dominant nonsyndromic deafness 28 autosomal dominant nonsyndromic deafness 2A autosomal dominant nonsyndromic deafness 2B autosomal dominant nonsyndromic deafness 30 autosomal dominant nonsyndromic deafness 31 autosomal dominant nonsyndromic deafness 33 autosomal dominant nonsyndromic deafness 36 autosomal dominant nonsyndromic deafness 3A autosomal dominant nonsyndromic deafness 3B autosomal dominant nonsyndromic deafness 40 autosomal dominant nonsyndromic deafness 41 autosomal dominant nonsyndromic deafness 43 autosomal dominant nonsyndromic deafness 44 autosomal dominant nonsyndromic deafness 47 autosomal dominant nonsyndromic deafness 48 autosomal dominant nonsyndromic deafness 49 autosomal dominant nonsyndromic deafness 4A autosomal dominant nonsyndromic deafness 4B autosomal dominant nonsyndromic deafness 50 autosomal dominant nonsyndromic deafness 51 autosomal dominant nonsyndromic deafness 52 autosomal dominant nonsyndromic deafness 53 autosomal dominant nonsyndromic deafness 54 autosomal dominant nonsyndromic deafness 56 autosomal dominant nonsyndromic deafness 58 autosomal dominant nonsyndromic deafness 59 autosomal dominant nonsyndromic deafness 5 autosomal dominant nonsyndromic deafness 64 autosomal dominant nonsyndromic deafness 65 autosomal dominant nonsyndromic deafness 66 autosomal dominant nonsyndromic deafness 67 autosomal dominant nonsyndromic deafness 68 autosomal dominant nonsyndromic deafness 69 autosomal dominant nonsyndromic deafness 6 autosomal dominant nonsyndromic deafness 70 autosomal dominant nonsyndromic deafness 7 autosomal dominant nonsyndromic deafness 9 autosomal dominant nonsyndromic deafness autosomal recessive nonsyndromic deafness 101 autosomal recessive nonsyndromic deafness 102 autosomal recessive nonsyndromic deafness 103 autosomal recessive nonsyndromic deafness 104 autosomal recessive nonsyndromic deafness 12 autosomal recessive nonsyndromic deafness 13 autosomal recessive nonsyndromic deafness 14 autosomal recessive nonsyndromic deafness 15 autosomal recessive nonsyndromic deafness 16 autosomal recessive nonsyndromic deafness 17 autosomal recessive nonsyndromic deafness 18A autosomal recessive nonsyndromic deafness 18B autosomal recessive nonsyndromic deafness 1A autosomal recessive nonsyndromic deafness 1B autosomal recessive nonsyndromic deafness 20 autosomal recessive nonsyndromic deafness 21 autosomal recessive nonsyndromic deafness 22 autosomal recessive nonsyndromic deafness 23 autosomal recessive nonsyndromic deafness 24 autosomal recessive nonsyndromic deafness 25 autosomal recessive nonsyndromic deafness 26 autosomal recessive nonsyndromic deafness 27 autosomal recessive nonsyndromic deafness 28 autosomal recessive nonsyndromic deafness 29 autosomal recessive nonsyndromic deafness 2 autosomal recessive nonsyndromic deafness 30 autosomal recessive nonsyndromic deafness 31 autosomal recessive nonsyndromic deafness 32 autosomal recessive nonsyndromic deafness 33 autosomal recessive nonsyndromic deafness 35 autosomal recessive nonsyndromic deafness 36 autosomal recessive nonsyndromic deafness 37 autosomal recessive nonsyndromic deafness 38 autosomal recessive nonsyndromic deafness 39 autosomal recessive nonsyndromic deafness 3 autosomal recessive nonsyndromic deafness 40 autosomal recessive nonsyndromic deafness 42 autosomal recessive nonsyndromic deafness 44 autosomal recessive nonsyndromic deafness 45 autosomal recessive nonsyndromic deafness 46 autosomal recessive nonsyndromic deafness 47 autosomal recessive nonsyndromic deafness 48 autosomal recessive nonsyndromic deafness 49 autosomal recessive nonsyndromic deafness 4 autosomal recessive nonsyndromic deafness 51 autosomal recessive nonsyndromic deafness 53 autosomal recessive nonsyndromic deafness 55 autosomal recessive nonsyndromic deafness 59 autosomal recessive nonsyndromic deafness 5 autosomal recessive nonsyndromic deafness 61 autosomal recessive nonsyndromic deafness 62 autosomal recessive nonsyndromic deafness 63 autosomal recessive nonsyndromic deafness 65 autosomal recessive nonsyndromic deafness 66 autosomal recessive nonsyndromic deafness 67 autosomal recessive nonsyndromic deafness 68 autosomal recessive nonsyndromic deafness 6 autosomal recessive nonsyndromic deafness 70 autosomal recessive nonsyndromic deafness 71 autosomal recessive nonsyndromic deafness 74 autosomal recessive nonsyndromic deafness 76 autosomal recessive nonsyndromic deafness 77 autosomal recessive nonsyndromic deafness 79 autosomal recessive nonsyndromic deafness 7 autosomal recessive nonsyndromic deafness 83 autosomal recessive nonsyndromic deafness 84A autosomal recessive nonsyndromic deafness 84B autosomal recessive nonsyndromic deafness 85 autosomal recessive nonsyndromic deafness 86 autosomal recessive nonsyndromic deafness 88 autosomal recessive nonsyndromic deafness 89 autosomal recessive nonsyndromic deafness 8 autosomal recessive nonsyndromic deafness 91 autosomal recessive nonsyndromic deafness 93 autosomal recessive nonsyndromic deafness 96 autosomal recessive nonsyndromic deafness 97 autosomal recessive nonsyndromic deafness 98 autosomal recessive nonsyndromic deafness 9 autosomal recessive nonsyndromic deafness complement component 2 deficiency congenital adrenal hyperplasia cytochrome-c oxidase deficiency disease obsolete autosomal recessive nonsyndromic deafness 105 sensorineural hearing loss von Willebrand's disease 2 von Willebrand's disease
340990	otogelin	OTOG FLJ46346 OTGN mlemp	X-linked nonsyndromic deafness allergic asthma amyotrophic lateral sclerosis type 1 asthma autosomal dominant auditory neuropathy 1 autosomal dominant nonsyndromic deafness 10 autosomal dominant nonsyndromic deafness 11 autosomal dominant nonsyndromic deafness 12 autosomal dominant nonsyndromic deafness 13 autosomal dominant nonsyndromic deafness 15 autosomal dominant nonsyndromic deafness 16 autosomal dominant nonsyndromic deafness 17 autosomal dominant nonsyndromic deafness 18 autosomal dominant nonsyndromic deafness 1 autosomal dominant nonsyndromic deafness 20 autosomal dominant nonsyndromic deafness 21 autosomal dominant nonsyndromic deafness 22 autosomal dominant nonsyndromic deafness 23 autosomal dominant nonsyndromic deafness 24 autosomal dominant nonsyndromic deafness 25 autosomal dominant nonsyndromic deafness 27 autosomal dominant nonsyndromic deafness 28 autosomal dominant nonsyndromic deafness 2A autosomal dominant nonsyndromic deafness 2B autosomal dominant nonsyndromic deafness 30 autosomal dominant nonsyndromic deafness 31 autosomal dominant nonsyndromic deafness 33 autosomal dominant nonsyndromic deafness 36 autosomal dominant nonsyndromic deafness 3A autosomal dominant nonsyndromic deafness 3B autosomal dominant nonsyndromic deafness 40 autosomal dominant nonsyndromic deafness 41 autosomal dominant nonsyndromic deafness 43 autosomal dominant nonsyndromic deafness 44 autosomal dominant nonsyndromic deafness 47 autosomal dominant nonsyndromic deafness 48 autosomal dominant nonsyndromic deafness 49 autosomal dominant nonsyndromic deafness 4A autosomal dominant nonsyndromic deafness 4B autosomal dominant nonsyndromic deafness 50 autosomal dominant nonsyndromic deafness 51 autosomal dominant nonsyndromic deafness 52 autosomal dominant nonsyndromic deafness 53 autosomal dominant nonsyndromic deafness 54 autosomal dominant nonsyndromic deafness 56 autosomal dominant nonsyndromic deafness 58 autosomal dominant nonsyndromic deafness 59 autosomal dominant nonsyndromic deafness 5 autosomal dominant nonsyndromic deafness 64 autosomal dominant nonsyndromic deafness 65 autosomal dominant nonsyndromic deafness 66 autosomal dominant nonsyndromic deafness 67 autosomal dominant nonsyndromic deafness 68 autosomal dominant nonsyndromic deafness 69 autosomal dominant nonsyndromic deafness 6 autosomal dominant nonsyndromic deafness 70 autosomal dominant nonsyndromic deafness 7 autosomal dominant nonsyndromic deafness 9 autosomal dominant nonsyndromic deafness autosomal recessive nonsyndromic deafness 101 autosomal recessive nonsyndromic deafness 102 autosomal recessive nonsyndromic deafness 103 autosomal recessive nonsyndromic deafness 104 autosomal recessive nonsyndromic deafness 12 autosomal recessive nonsyndromic deafness 13 autosomal recessive nonsyndromic deafness 14 autosomal recessive nonsyndromic deafness 15 autosomal recessive nonsyndromic deafness 16 autosomal recessive nonsyndromic deafness 17 autosomal recessive nonsyndromic deafness 18A autosomal recessive nonsyndromic deafness 18B autosomal recessive nonsyndromic deafness 1A autosomal recessive nonsyndromic deafness 1B autosomal recessive nonsyndromic deafness 20 autosomal recessive nonsyndromic deafness 21 autosomal recessive nonsyndromic deafness 22 autosomal recessive nonsyndromic deafness 23 autosomal recessive nonsyndromic deafness 24 autosomal recessive nonsyndromic deafness 25 autosomal recessive nonsyndromic deafness 26 autosomal recessive nonsyndromic deafness 27 autosomal recessive nonsyndromic deafness 28 autosomal recessive nonsyndromic deafness 29 autosomal recessive nonsyndromic deafness 2 autosomal recessive nonsyndromic deafness 30 autosomal recessive nonsyndromic deafness 31 autosomal recessive nonsyndromic deafness 32 autosomal recessive nonsyndromic deafness 33 autosomal recessive nonsyndromic deafness 35 autosomal recessive nonsyndromic deafness 36 autosomal recessive nonsyndromic deafness 37 autosomal recessive nonsyndromic deafness 38 autosomal recessive nonsyndromic deafness 39 autosomal recessive nonsyndromic deafness 3 autosomal recessive nonsyndromic deafness 40 autosomal recessive nonsyndromic deafness 42 autosomal recessive nonsyndromic deafness 44 autosomal recessive nonsyndromic deafness 45 autosomal recessive nonsyndromic deafness 46 autosomal recessive nonsyndromic deafness 47 autosomal recessive nonsyndromic deafness 48 autosomal recessive nonsyndromic deafness 49 autosomal recessive nonsyndromic deafness 4 autosomal recessive nonsyndromic deafness 51 autosomal recessive nonsyndromic deafness 53 autosomal recessive nonsyndromic deafness 55 autosomal recessive nonsyndromic deafness 59 autosomal recessive nonsyndromic deafness 5 autosomal recessive nonsyndromic deafness 61 autosomal recessive nonsyndromic deafness 62 autosomal recessive nonsyndromic deafness 63 autosomal recessive nonsyndromic deafness 65 autosomal recessive nonsyndromic deafness 66 autosomal recessive nonsyndromic deafness 67 autosomal recessive nonsyndromic deafness 68 autosomal recessive nonsyndromic deafness 6 autosomal recessive nonsyndromic deafness 70 autosomal recessive nonsyndromic deafness 71 autosomal recessive nonsyndromic deafness 74 autosomal recessive nonsyndromic deafness 76 autosomal recessive nonsyndromic deafness 77 autosomal recessive nonsyndromic deafness 79 autosomal recessive nonsyndromic deafness 7 autosomal recessive nonsyndromic deafness 83 autosomal recessive nonsyndromic deafness 84A autosomal recessive nonsyndromic deafness 84B autosomal recessive nonsyndromic deafness 85 autosomal recessive nonsyndromic deafness 86 autosomal recessive nonsyndromic deafness 88 autosomal recessive nonsyndromic deafness 89 autosomal recessive nonsyndromic deafness 8 autosomal recessive nonsyndromic deafness 91 autosomal recessive nonsyndromic deafness 93 autosomal recessive nonsyndromic deafness 96 autosomal recessive nonsyndromic deafness 97 autosomal recessive nonsyndromic deafness 98 autosomal recessive nonsyndromic deafness 9 autosomal recessive nonsyndromic deafness intrinsic asthma obsolete autosomal recessive nonsyndromic deafness 105 sensorineural hearing loss
5016	oviductal glycoprotein 1	OVGP1 CHIT5 oviductin	bagassosis cancer centronuclear myopathy ciliary body disease colorectal cancer colorectal carcinoma congenital structural myopathy embryoma endometrial carcinoma endosalpingiosis iris disease large intestine cancer laryngitis ovarian cancer ovarian carcinoma panuveitis transient myeloproliferative syndrome tubular aggregate myopathy 1 uveitis
4973	oxidized low density lipoprotein receptor 1	OLR1 CLEC8A LOX-1 SCARE1	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 Cockayne syndrome Kawasaki disease Pick's disease Reye syndrome abdominal obesity-metabolic syndrome 1 actinic keratosis acute chest syndrome acute myocardial infarction adenocarcinoma adenoma arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease arthritis arthropathy atherosclerosis atrial fibrillation bone osteosarcoma brain stem infarction breast cancer breast carcinoma cancer cardiomyopathy cardiovascular system disease carpal tunnel syndrome central sleep apnea cerebral amyloid angiopathy cerebral artery occlusion cerebral degeneration cerebral infarction cerebrovascular disease childhood osteosarcoma choriocarcinoma chronic kidney disease colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma congestive heart failure coronary artery disease coronary stenosis coronary thrombosis cribriform carcinoma diabetes mellitus diabetic ketoacidosis disease of metabolism embryoma end stage renal disease endomyocardial fibrosis essential hypertension familial hypercholesterolemia familial hyperlipidemia gallbladder disease generalized atherosclerosis gestational diabetes giant cell glioblastoma glioblastoma glucose intolerance granular cell carcinoma heart disease hepatocellular carcinoma high grade glioma hyperhomocysteinemia hypertension hypertrophic cardiomyopathy juvenile rheumatoid arthritis keratitis keratoconjunctivitis kidney failure large intestine cancer liver cancer liver disease lung adenocarcinoma lung cancer multiple sclerosis multiple system atrophy myocardial infarction nutmeg liver obesity osteoarthritis osteosarcoma pancreatic cancer pancreatic carcinoma parapsoriasis placenta cancer postural orthostatic tachycardia syndrome pre-eclampsia prediabetes syndrome prostate cancer prostate carcinoma psoriasis pustulosis of palm and sole renal osteodystrophy rheumatoid arthritis seborrheic keratosis sickle cell anemia silent myocardial infarction skin disease transient cerebral ischemia tubular adenocarcinoma type 2 diabetes mellitus vascular disease vertebrobasilar insufficiency
4967	oxoglutarate dehydrogenase	OGDH E1k KGD1 OGDC-E1 OGDH2	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 Creutzfeldt-Jakob disease Laron syndrome Leigh disease Pick's disease Reye syndrome Yoon-Bellen neurodevelopmental syndrome achondroplasia alternating hemiplegia of childhood arteriosclerotic cardiovascular disease atherosclerosis autonomic neuropathy breast cancer cancer central nervous system disease cerebral degeneration colorectal cancer colorectal carcinoma communicating hydrocephalus congestive heart failure coronary artery disease embryoma hydrocephalus lactic acidosis large intestine cancer lingual-facial-buccal dyskinesia movement disease nervous system disease neuroblastoma neurodegenerative disease obstructive hydrocephalus oxoglutarate dehydrogenase deficiency phenylketonuria placental insufficiency primary biliary cholangitis pyruvate carboxylase deficiency disease pyruvate decarboxylase deficiency senile degeneration of brain status epilepticus urea cycle disorder viral infectious disease
55753	oxoglutarate dehydrogenase L	OGDHL FLJ10851	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 Yoon-Bellen neurodevelopmental syndrome breast cancer cancer cerebral degeneration colorectal cancer colorectal carcinoma embryoma eosinophilic esophagitis hepatocellular carcinoma large intestine cancer liver cancer oxoglutarate dehydrogenase deficiency pancreatic cancer pancreatic carcinoma
5538	palmitoyl-protein thioesterase 1	PPT1 CLN1 INCL ceroid-lipofuscinosis, neuronal 1, infantile	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 Gaucher's disease Graves' disease Huntington's disease-like 1 Huntington's disease-like 2 Huntington's disease Pick's disease Reye syndrome Stargardt disease Unverricht-Lundborg syndrome actinic keratosis age related macular degeneration alternating hemiplegia of childhood amnestic disorder autonomic neuropathy basal cell carcinoma blepharospasm blindness brain disease breast cancer breast carcinoma cancer cannabis abuse cannabis dependence central nervous system disease cerebral degeneration colorectal cancer congestive heart failure degeneration of macula and posterior pole denture stomatitis depressive disorder dysthymic disorder early myoclonic encephalopathy embryoma endometriosis of uterus endometriosis epilepsy eye disease focal hand dystonia giant cell glioblastoma glioblastoma hepatocellular carcinoma high grade glioma hyperthyroidism intellectual disability inverted follicular keratosis keratoacanthoma large intestine cancer learning disability lingual-facial-buccal dyskinesia liver cancer lung cancer lung non-small cell carcinoma lysosomal storage disease macular degeneration major depressive disorder male infertility melancholic depression melanoacanthoma movement disease nervous system disease neuroblastoma neurodegenerative disease neuronal ceroid lipofuscinosis 10 neuronal ceroid lipofuscinosis 11 neuronal ceroid lipofuscinosis 13 neuronal ceroid lipofuscinosis 1 neuronal ceroid lipofuscinosis 2 neuronal ceroid lipofuscinosis 3 neuronal ceroid lipofuscinosis 4 neuronal ceroid lipofuscinosis 5 neuronal ceroid lipofuscinosis 6A neuronal ceroid lipofuscinosis 6B neuronal ceroid lipofuscinosis 7 neuronal ceroid lipofuscinosis 8 northern epilepsy variant neuronal ceroid lipofuscinosis 8 neuronal ceroid lipofuscinosis 9 neuronal ceroid lipofuscinosis neurotic disorder obsolete melancholia optic atrophy polycystic ovary syndrome primary immunodeficiency disease prostate adenocarcinoma prostate cancer prostate carcinoma psychotic disorder retrograde amnesia schizoaffective disorder schizophrenia schizophreniform disorder seborrheic keratosis secondary Parkinson disease skin disease stomatitis syndromic X-linked intellectual disability 94 thyrotoxicosis ulcerative stomatitis visual epilepsy
9374	palmitoyl-protein thioesterase 2	PPT2	cancer cerebellar ataxia cerebellar disease embryoma histiocytosis membranous glomerulonephritis multiple myeloma multiple sclerosis neuroblastoma neuronal ceroid lipofuscinosis 10 neuronal ceroid lipofuscinosis 11 neuronal ceroid lipofuscinosis 13 neuronal ceroid lipofuscinosis 1 neuronal ceroid lipofuscinosis 2 neuronal ceroid lipofuscinosis 3 neuronal ceroid lipofuscinosis 4 neuronal ceroid lipofuscinosis 5 neuronal ceroid lipofuscinosis 6A neuronal ceroid lipofuscinosis 6B neuronal ceroid lipofuscinosis 7 neuronal ceroid lipofuscinosis 8 northern epilepsy variant neuronal ceroid lipofuscinosis 8 neuronal ceroid lipofuscinosis 9 neuronal ceroid lipofuscinosis
3651	pancreatic and duodenal homeobox 1	PDX1	acute necrotizing pancreatitis cerebral infarction diabetes mellitus diabetic retinopathy hyperglycemia maturity-onset diabetes of the young type 4 maturity-onset diabetes of the young obesity pancreatic agenesis placental insufficiency type 1 diabetes mellitus type 2 diabetes mellitus
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
5407	pancreatic lipase related protein 1	PNLIPRP1 PLRP1	breast cancer prostate cancer
5408	pancreatic lipase related protein 2 (gene/pseudogene)	PNLIPRP2 PLRP2	acute pancreatitis pancreatitis
119548	pancreatic lipase related protein 3	PNLIPRP3	hepatocellular carcinoma liver cancer
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
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
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
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
8864	period circadian regulator 2	PER2	advanced sleep phase syndrome 1 advanced sleep phase syndrome cocaine dependence
127281	peroxiredoxin like 2B	PRXL2B MGC26818 prostamide/prostaglandin F synthase thioredoxin-type PGF synthase
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
5728	phosphatase and tensin homolog	PTEN MMAC1 PTEN1 TEP1 mutated in multiple advanced cancers 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 B-cell adult acute lymphocytic leukemia B-cell lymphoma Balo concentric sclerosis Bannayan-Riley-Ruvalcaba syndrome Barrett's esophagus Burkitt lymphoma Carney complex Clouston syndrome Cockayne syndrome Cornelia de Lange syndrome Cowden syndrome Crohn's colitis Crohn's disease Cronkhite-Canada syndrome Dubowitz syndrome EEC syndrome Epstein-Barr virus infectious disease Evans' syndrome Ewing sarcoma Fanconi anemia complementation group A Fanconi anemia Foster-Kennedy syndrome Goodpasture syndrome Graves' disease Grn-related frontotemporal lobar degeneration with Tdp43 inclusions Hodgkin's granuloma Hodgkin's lymphoma, lymphocytic depletion Hodgkin's lymphoma, lymphocytic-histiocytic predominance Hodgkin's lymphoma, mixed cellularity Hodgkin's lymphoma IgA glomerulonephritis Lafora disease Lambert-Eaton myasthenic syndrome Langerhans-cell histiocytosis Laron syndrome Li-Fraumeni syndrome 1 Li-Fraumeni syndrome Lynch syndrome MHC class II deficiency Marfan syndrome Marinesco-Sjogren syndrome Miller-Dieker lissencephaly syndrome Nijmegen breakage syndrome Noonan syndrome 10 Noonan syndrome 1 Noonan syndrome 2 Noonan syndrome 3 Noonan syndrome 4 Noonan syndrome 5 Noonan syndrome 6 Noonan syndrome 7 Noonan syndrome 8 Noonan syndrome 9 Noonan syndrome with multiple lentigines 1 Noonan syndrome with multiple lentigines Noonan syndrome PTEN hamartoma tumor syndrome Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Peutz-Jeghers syndrome Pick's disease Pitt-Hopkins syndrome Prader-Willi syndrome Proteus syndrome Reye syndrome Richter's syndrome Robinow syndrome Seckel syndrome Sezary's disease Shwachman-Diamond syndrome Silver-Russell syndrome Sjogren's syndrome Smith-McCort dysplasia T-cell acute lymphoblastic leukemia T-cell adult acute lymphocytic leukemia Takayasu's arteritis VACTERL association X-linked Aarskog syndrome X-linked ichthyosis Zollinger-Ellison syndrome abdominal aortic aneurysm abdominal obesity-metabolic syndrome 1 achondroplasia acinar cell carcinoma acoustic neuroma acquired immunodeficiency syndrome acral lentiginous melanoma actinic keratosis acute interstitial pneumonia acute lymphoblastic leukemia acute megakaryocytic leukemia acute myeloid leukemia acute myocardial infarction acute pancreatitis acute promyelocytic leukemia adenocarcinoma in situ adenocarcinoma adenoid cystic carcinoma adenoma adenosarcoma adenosine deaminase deficiency adenosquamous carcinoma adenosquamous lung carcinoma adiposis dolorosa adrenal cortex cancer adrenal gland cancer adrenoleukodystrophy adult T-cell leukemia/lymphoma adult acute lymphocytic leukemia adult cystic teratoma adult epithelioid sarcoma adult liposarcoma adult lymphoma adult medulloblastoma adult oligodendroglioma adult respiratory distress syndrome adult teratoma age related macular degeneration agnosia allergic asthma alternating hemiplegia of childhood amnestic disorder ampulla of Vater adenocarcinoma amyotrophic lateral sclerosis anal carcinoma anal margin carcinoma anal margin squamous cell carcinoma anal squamous cell carcinoma anaplastic astrocytoma androgen insensitivity syndrome anemia angioid streaks angiokeratoma angioma serpiginosum angiomatous meningioma angiomyolipoma angiosarcoma anisometropia ankyloblepharon-ectodermal defects-cleft lip/palate syndrome ankylosing spondylitis anthracosilicosis antithrombin III deficiency anxiety disorder aortic aneurysm aortic valve insufficiency aromatase excess syndrome arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease arteriovenous malformation arthritis arthropathy asbestosis asthma astroblastoma atherosclerosis 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 atrophic gastritis attention deficit hyperactivity disorder atypical chronic myeloid leukemia, BCR-ABL1 negative autism spectrum disorder autistic disorder autoimmune disease autoimmune lymphoproliferative syndrome autoimmune thrombocytopenic purpura autoimmune thyroiditis autonomic neuropathy autosomal dominant Robinow syndrome 1 autosomal dominant Robinow syndrome 2 autosomal dominant Robinow syndrome 3 autosomal recessive Robinow syndrome bacterial infectious disease bacterial sepsis basal cell carcinoma benign breast phyllodes tumor benign ependymoma benign meningioma benign mesothelioma bilateral breast cancer bile duct adenocarcinoma bile duct cancer bile duct carcinoma biliary atresia biliary tract cancer bladder carcinoma bladder neck obstruction bladder squamous cell carcinoma bladder urothelial carcinoma bone osteosarcoma botryoid rhabdomyosarcoma brain cancer brain disease brain stem infarction breast adenocarcinoma breast adenoid cystic carcinoma breast adenoma breast cancer breast carcinoma breast disease breast ductal carcinoma breast fibroadenoma breast fibroadenosis breast fibrocystic disease bronchiolo-alveolar adenocarcinoma bronchus cancer bronchus carcinoma buphthalmos cancer capillary disease capillary hemangioma carbamoyl phosphate synthetase I deficiency disease carcinoma of supraglottis carcinoma carcinosarcoma cardiomyopathy cataract 1 multiple types cataract 10 multiple types cataract 11 multiple types cataract 12 multiple types cataract 13 with adult i phenotype cataract 14 multiple types cataract 15 multiple types cataract 16 multiple types cataract 17 multiple types cataract 18 cataract 19 multiple types cataract 2 multiple types cataract 20 multiple types cataract 21 multiple types cataract 22 multiple types cataract 23 cataract 24 cataract 25 cataract 26 multiple types cataract 27 cataract 29 cataract 3 multiple types cataract 30 cataract 31 multiple types cataract 32 multiple types cataract 33 cataract 34 multiple types cataract 35 cataract 37 cataract 38 cataract 39 multiple types cataract 4 multiple types cataract 40 cataract 41 cataract 42 cataract 43 cataract 44 cataract 45 cataract 46 juvenile-onset cataract 5 multiple types cataract 6 multiple types cataract 7 cataract 8 multiple types cataract 9 multiple types cataract cavernous hemangioma celiac disease cellular ependymoma cellular schwannoma central nervous system cancer central nervous system disease central nervous system lymphoma cerebellum cancer cerebral artery occlusion cerebral cavernous malformation 1 cerebral cavernous malformation cerebral convexity meningioma cerebral degeneration cerebral infarction cerebral primitive neuroectodermal tumor cerebrovascular disease cervical adenocarcinoma cervical cancer cervical endometrioid adenocarcinoma cervical squamous cell carcinoma cervix carcinoma cervix uteri carcinoma in situ cherubism childhood acute lymphocytic leukemia childhood angiosarcoma childhood astrocytic tumor childhood cerebral astrocytoma childhood ependymoma childhood epithelioid sarcoma childhood kidney cell carcinoma childhood leukemia childhood liposarcoma childhood lymphoma childhood medulloblastoma childhood oligodendroglioma childhood osteosarcoma childhood ovarian germ cell tumor childhood pilocytic astrocytoma childhood testicular germ cell tumor cholangiocarcinoma cholangiolocellular carcinoma cholera chondrodysplasia-pseudohermaphroditism syndrome chondrosarcoma chordoid meningioma chordoma chorioangioma choriocarcinoma chromophobe renal cell carcinoma chromosome 10q23 deletion syndrome chromosome 17p13.1 deletion syndrome chronic eosinophilic leukemia chronic fatigue syndrome chronic lymphocytic leukemia chronic monocytic leukemia chronic myeloid leukemia chronic obstructive pulmonary disease clear cell adenocarcinoma clear cell meningioma clear cell renal cell carcinoma clear cell sarcoma clitoris cancer clubfoot colitis collagenous colitis collecting duct carcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma common wart communicating hydrocephalus communication disorder cone-rod dystrophy 2 cone-rod dystrophy congenital central hypoventilation syndrome congenital heart disease congenital hypothyroidism congenital ptosis congestive heart failure coronary artery disease coronary stenosis coronary thrombosis cranial nerve disease cranial nerve palsy craniosynostosis cribriform carcinoma cutaneous fibrous histiocytoma cystadenoma cystic fibrosis cystic kidney disease cystic teratoma dedifferentiated liposarcoma degeneration of macula and posterior pole degenerative disc disease dental caries dentin caries depressive disorder dermatofibrosarcoma protuberans dermoid cyst of ovary developmental coordination disorder diabetes insipidus diabetes mellitus diabetic angiopathy diabetic autonomic neuropathy diabetic cataract diabetic ketoacidosis diabetic neuropathy diabetic polyneuropathy diabetic retinopathy diastrophic dysplasia differentiated thyroid gland carcinoma diffuse large B-cell lymphoma diffuse scleroderma dilated cardiomyopathy 1A dilated cardiomyopathy disease of mental health disease of metabolism distal arthrogryposis double outlet right ventricle duodenum cancer duodenum disease dysgerminoma of ovary dysgerminoma dysplastic nevus syndrome dysthymic disorder dystonia ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 elephantiasis embryoma embryonal cancer embryonal carcinoma embryonal rhabdomyosarcoma encephalitis encephalomyelitis endemic goiter endocrine gland cancer endodermal sinus tumor endometrial adenocarcinoma endometrial cancer endometrial carcinoma endometrial hyperplasia endometrial serous adenocarcinoma endometrioid ovary carcinoma endometriosis of ovary endometriosis of uterus endometriosis endometritis endometrium carcinoma in situ endomyocardial fibrosis enophthalmos epidermal nevus epidermodysplasia verruciformis epilepsy episodic kinesigenic dyskinesia 1 epithelioid leiomyosarcoma epithelioid malignant peripheral nerve sheath tumor epithelioid sarcoma esophageal atresia esophageal cancer esophageal carcinoma esophageal disease esophagus adenocarcinoma esophagus small cell carcinoma esophagus squamous cell carcinoma essential hypertension essential thrombocythemia exanthem exfoliation syndrome exostosis extrahepatic bile duct carcinoma extramedullary plasmacytoma familial adenomatous polyposis 1 familial adenomatous polyposis familial hyperlipidemia familial meningioma familial periodic paralysis familial retinoblastoma female breast carcinoma female reproductive endometrioid cancer fetal alcohol spectrum disorder fibrillary astrocytoma fibrosarcoma fibrous meningioma filarial elephantiasis fissured tongue flat ductal epithelial atypia focal epilepsy follicular adenoma follicular lymphoma fragile X syndrome fundus albipunctatus galactosemia gallbladder cancer gallbladder carcinoma gallbladder disease gangliocytoma ganglioglioma ganglioneuroma gastric adenocarcinoma gastroenteritis gastroesophageal junction adenocarcinoma gastrointestinal stromal tumor gastrointestinal system cancer gemistocytic astrocytoma generalized anxiety disorder geographic tongue germ cell and embryonal cancer germ cell cancer germinoma gestational diabetes gestational trophoblastic neoplasm giant cell glioblastoma glaucoma glioblastoma gliomatosis cerebri gliosarcoma glomerulonephritis glomus tumor goiter granular cell carcinoma granular cell tumor granulomatosis with polyangiitis granulosa cell tumor gynecomastia head and neck cancer head and neck squamous cell carcinoma heart cancer hemangioblastoma hemangioma hemangiopericytoma hematologic cancer hepatitis B hepatitis C hepatitis hepatoblastoma hepatocellular carcinoma hepatopulmonary syndrome hereditary breast ovarian cancer syndrome hereditary hemorrhagic telangiectasia hereditary lymphedema I hereditary lymphedema IA hereditary lymphedema hidradenoma high grade glioma histiocytoid hemangioma human immunodeficiency virus infectious disease hydrocephalus hydrophthalmos hypereosinophilic syndrome hyperglycemia hyperinsulinism hyperostosis hypertension hyperthyroidism hypertrophic cardiomyopathy hypertrophy of breast hypertropia hypoglycemia hypothyroidism idiopathic interstitial pneumonia idiopathic pulmonary fibrosis ileitis ileocolitis immune system disease immunoglobulin alpha deficiency in situ carcinoma inclusion body myositis infant gynecomastia inflammatory bowel disease 1 inflammatory bowel disease inflammatory breast carcinoma influenza insulinoma intellectual disability intermediate coronary syndrome intermediate uveitis intestinal pseudo-obstruction intracranial aneurysm intracranial hypertension intrahepatic cholangiocarcinoma intramuscular hemangioma intraorbital meningioma intraventricular meningioma intrinsic asthma intussusception invasive ductal carcinoma inverted papilloma islet cell tumor juvenile myelomonocytic leukemia juvenile pilocytic astrocytoma juvenile polyposis syndrome keratoconjunctivitis sicca keratosis follicularis kidney cancer kidney disease lactocele large intestine cancer laryngeal carcinoma laryngeal squamous cell carcinoma larynx cancer larynx squamous papilloma lateral meningocele syndrome learning disability leiomyoma leiomyosarcoma leprosy leptomeninges sarcoma leukemia leukocyte adhesion deficiency 1 leukocyte adhesion deficiency lingual-facial-buccal dyskinesia lipoma lipomatosis liposarcoma lissencephaly livedoid vasculitis liver angiosarcoma liver cancer liver carcinoma liver cirrhosis liver disease long QT syndrome low tension glaucoma luminal breast carcinoma A lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung disease lung non-small cell carcinoma lung oat cell carcinoma lung small cell carcinoma lung squamous cell carcinoma lupus nephritis lymphadenitis lymphangioma lymphedema lymphoblastic lymphoma lymphocytic colitis lymphoid leukemia lymphoma lymphoplasmacyte-rich meningioma macrocephaly-autism syndrome macrocytic anemia macular degeneration major depressive disorder male breast cancer malignant adult ependymoma malignant astrocytoma malignant fibrous histiocytoma malignant mesothelioma malignant peripheral nerve sheath tumor malignant teratoma mature teratoma mechanical strabismus medulloblastoma medulloepithelioma medullomyoblastoma melancholic depression melanoma melanotic medulloblastoma melanotic neurilemmoma membranoproliferative glomerulonephritis meninges sarcoma meningioma meningothelial meningioma microcephalic osteodysplastic primordial dwarfism type I microcephalic osteodysplastic primordial dwarfism type II microcephaly microcystic adenoma microcystic meningioma microglandular adenosis microinvasive gastric cancer microphthalmia microscopic colitis middle cerebral artery infarction migraine mitochondrial trifunctional protein deficiency mixed glioma mixed oligodendroglioma-astrocytoma mixed sleep apnea mongolian spot motor neuritis movement disease mucinous adenocarcinoma mucopolysaccharidosis IV multilocular clear cell renal cell carcinoma multiple endocrine neoplasia type 1 multiple endocrine neoplasia type 2A multiple epiphyseal dysplasia multiple myeloma multiple symmetric lipomatosis mycosis fungoides myelitis myelodysplastic syndrome myeloid leukemia myocardial infarction myofibrillar myopathy myofibroma myopathy myopia myxedema myxoid leiomyosarcoma myxopapillary ependymoma narcolepsy nasopharynx carcinoma nephritis nephroblastoma nephrosis nervous system cancer nervous system disease neurilemmoma neuritis neuroblastoma neurodegenerative disease neuroectodermal tumor neuroendocrine carcinoma neuroendocrine tumor neurofibroma neurofibromatosis 1 neurofibromatosis neurofibrosarcoma neurohypophyseal diabetes insipidus neuropathy neurotic disorder nicotine dependence nodular prostate non-Hodgkin lymphoma non-congenital cyst of kidney nonepidermolytic palmoplantar keratoderma nonpapillary renal cell carcinoma nontoxic goiter nutmeg liver nutritional optic neuropathy obesity obsolete Matthew-Wood syndrome obsolete T-cell lymphoblastic leukemia/lymphoma obsolete constipation obsolete embryonal Tumor with Multilayered Rosettes, C19MC-Altered obsolete exophthalmos obsolete extraskeletal myxoid chondrosarcoma obsolete intestinal pseudo-obstruction obsolete malignant histiocytosis obsolete melancholia obsolete multiple symmetrical lipomatosis obsolete type 1 diabetes mellitus 9 obsolete ymphosarcoma obstructive hydrocephalus obstructive sleep apnea oculocerebrorenal syndrome oculocutaneous albinism olfactory groove meningioma oligodendroglioma ophthalmoplegia optic nerve disease oral cavity cancer oral squamous cell carcinoma orbital disease osteoarthritis osteochondrodysplasia osteoglophonic dysplasia osteoporosis osteosarcoma otitis media ovarian cancer ovarian carcinoma ovarian cyst ovarian germ cell cancer ovarian germ cell teratoma ovarian mucinous neoplasm ovarian papillary neoplasm ovarian serous carcinoma oxyphilic adenoma palmoplantar keratosis pancreas disease pancreatic adenocarcinoma pancreatic cancer pancreatic carcinoma pancreatic ductal adenocarcinoma pancreatic intraductal papillary-mucinous neoplasm pancreatitis pancytopenia papillary adenocarcinoma papillary adenoma papillary carcinoma papillary ependymoma papillary renal cell carcinoma papillary transitional carcinoma papilloma paraganglioma paralytic ileus parapsoriasis parasagittal meningioma parathyroid adenoma parathyroid carcinoma partial motor epilepsy patent ductus arteriosus patent foramen ovale penis squamous cell carcinoma periarthritis perineurioma peripheral nerve sheath neoplasm peripheral nervous system disease peripheral nervous system neoplasm peritoneal carcinoma peritoneal mesothelioma persistent fetal circulation syndrome pheochromocytoma pilocytic astrocytoma pituitary adenoma pituitary cancer pituitary carcinoma placenta cancer placental insufficiency plasma cell leukemia plasma cell neoplasm plasmacytoma pleomorphic adenoma pleomorphic lipoma pleomorphic liposarcoma plexiform neurofibroma plexiform schwannoma polyarteritis nodosa polycystic ovary syndrome polycythemia vera polydactyly polyneuropathy polyp of corpus uteri porphyria cutanea tarda portal hypertension postinflammatory pulmonary fibrosis premature menopause primary cerebellar degeneration primary cutaneous T-cell non-Hodgkin lymphoma primary cutaneous amyloidosis primary immunodeficiency disease primary open angle glaucoma primary ovarian insufficiency primary pulmonary hypertension progressive muscular atrophy progressive supranuclear palsy prostate adenocarcinoma prostate cancer prostate carcinoma prostate disease prostatic adenoma protein C deficiency protein S deficiency protein-losing enteropathy protoplasmic astrocytoma psammomatous meningioma pseudotumor cerebri pseudoxanthoma elasticum psoriasis psychotic disorder pterygium ptosis pulmonary embolism pulmonary emphysema pulmonary fibrosis pulmonary sclerosing hemangioma pustulosis of palm and sole pyoureter rectal benign neoplasm rectal prolapse rectum adenocarcinoma rectum cancer renal carcinoma renal cell carcinoma respiratory failure reticulosarcoma retinal detachment retinitis pigmentosa 1 retinitis pigmentosa retinoblastoma retrograde amnesia rhabdomyosarcoma rheumatic fever rheumatoid arthritis salivary gland adenoid cystic carcinoma sarcoma sarcomatoid carcinoma sarcomatoid renal cell carcinoma schizophrenia scleroderma scoliosis sebaceous adenocarcinoma sebaceous carcinoma seborrheic keratosis secondary Parkinson disease secondary hypertrophic osteoarthropathy secretory meningioma selective IgA deficiency disease seminoma senile angioma senile degeneration of brain sensorineural hearing loss serous cystadenocarcinoma severe combined immunodeficiency signet ring cell adenocarcinoma silent myocardial infarction silicosis situs inversus skin benign neoplasm skin cancer skin disease skin melanoma skin papilloma skin squamous cell carcinoma skin tag sleep apnea small intestine adenocarcinoma small intestine cancer small intestine carcinoma speech disorder spinal meningioma spinal muscular atrophy spindle cell sarcoma spindle cell thymoma sporadic breast cancer squamous cell carcinoma squamous cell neoplasm squamous cell papilloma squamous papillomatosis status epilepticus steatotic liver disease stomach cancer stomach carcinoma stomach disease strabismus subependymal giant cell astrocytoma substance abuse substance-related disorder substernal goiter superficial urinary bladder cancer supraglottis squamous cell carcinoma supratentorial primitive neuroectodermal tumor sweat gland cancer synovial sarcoma syringoma systemic lupus erythematosus systemic scleroderma tanycytic ependymoma tarsal-carpal coalition syndrome telangiectasis temporal arteritis tendinitis teratoma testicular cancer testicular germ cell cancer testis seminoma thrombocytopenia due to platelet alloimmunization thrombocytopenia thrombophilia thrombophlebitis thymic carcinoma thymoma thymus cancer thymus lymphoma thyroid adenoma thyroid cancer thyroid gland anaplastic carcinoma thyroid gland carcinoma thyroid gland disease thyroid gland follicular carcinoma thyroid gland papillary carcinoma thyroiditis thyrotoxicosis tongue cancer tongue squamous cell carcinoma tonsil cancer transient cerebral ischemia transitional cell carcinoma transitional meningioma trichohepatoenteric syndrome 1 trichohepatoenteric syndrome trilateral retinoblastoma tuberous sclerosis 1 tuberous sclerosis 2 tuberous sclerosis tubular adenocarcinoma 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 type C thymoma ulcerative colitis urinary bladder cancer uterine cancer uterine carcinosarcoma uterine corpus cancer uterine corpus sarcoma uterine fibroid uterus leiomyosarcoma uveal melanoma varicocele vascular disease vascular skin disease venous insufficiency verrucous carcinoma vertebrobasilar insufficiency vestibular schwannomatosis viral infectious disease visual epilepsy visual pathway disease von Hippel-Lindau disease vulva cancer vulva carcinoma xeroderma pigmentosum group A xeroderma pigmentosum group B xeroderma pigmentosum group C xeroderma pigmentosum group D xeroderma pigmentosum group E xeroderma pigmentosum group F xeroderma pigmentosum group G xeroderma pigmentosum variant type xeroderma pigmentosum
5130	phosphate cytidylyltransferase 1A, choline	PCYT1A CCTalpha CT CTP:phosphocholine cytidylyltransferase-alpha CTPCT choline-phosphate cytidylyltransferase alpha phosphate cytidylyltransferase 1, choline, alpha isoform phosphorylcholine transferase alpha	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 Cockayne syndrome Down syndrome Graves' disease Laron syndrome Leber congenital amaurosis Pick's disease Prinzmetal angina Reye syndrome Richter's syndrome Turner syndrome X-linked dilated cardiomyopathy abdominal aortic aneurysm abdominal obesity-metabolic syndrome 1 achondroplasia achromatopsia acquired color blindness acute chest syndrome acute myeloid leukemia acute myocardial infarction acute vascular insufficiency of intestine adult medulloblastoma alopecia anxiety disorder aortic aneurysm aortitis appendicitis arteriosclerotic cardiovascular disease arteriovenous malformation arteriovenous malformations of the brain astigmatism atherosclerosis atrial fibrillation 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 atrioventricular septal defect atypical chronic myeloid leukemia, BCR-ABL1 negative autism spectrum disorder autistic disorder autoimmune thyroiditis blindness blue color blindness bone disease bone marrow cancer bone osteosarcoma brain cancer brain stem infarction bronchus cancer bronchus carcinoma cancer cardiac tamponade carotid artery thrombosis carotid stenosis cartilage disease cataract central sleep apnea cerebellar ataxia cerebellar disease cerebral artery occlusion cerebral degeneration cerebral infarction cerebrovascular disease childhood medulloblastoma childhood osteosarcoma cholangiocarcinoma chronic kidney disease chronic lymphocytic leukemia chronic monocytic leukemia chronic myeloid leukemia collagen disease colon cancer colon carcinoma colonic benign neoplasm color blindness colorectal cancer colorectal carcinoma congenital generalized lipodystrophy type 1 congenital generalized lipodystrophy type 2 congenital generalized lipodystrophy type 3 congenital generalized lipodystrophy type 4 congenital generalized lipodystrophy congenital nystagmus congenital stationary night blindness 1A congenital stationary night blindness connective tissue disease corneal disease coronary artery anomaly coronary artery disease coronary stenosis coronary thrombosis diabetes mellitus diabetic ketoacidosis diffuse large B-cell lymphoma 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 dissociated nystagmus embryoma embryonal cancer endocarditis epilepsy episodic kinesigenic dyskinesia 1 esophageal cancer esophageal carcinoma essential hypertension extramedullary plasmacytoma familial adenomatous polyposis fibromyalgia fundus dystrophy generalized anxiety disorder germ cell and embryonal cancer germ cell cancer germinoma giant cell glioblastoma glioblastoma gonadal dysgenesis head and neck cancer hematologic cancer hepatitis B hepatitis C hepatocellular carcinoma high grade glioma hypertension hyperthyroidism impotence infective endocarditis insulinoma intellectual disability intermittent claudication intracranial aneurysm intracranial thrombosis intrahepatic cholangiocarcinoma intussusception islet cell tumor keratoconus large intestine cancer learning disability lipoatrophic diabetes mellitus lipodystrophy liver cancer lung benign neoplasm lung cancer lung carcinoma lymphoid leukemia medulloblastoma medullomyoblastoma melanoma melanotic medulloblastoma multiple myeloma myeloid leukemia myelomeningocele myeloproliferative neoplasm myocardial infarction myopia neuroendocrine carcinoma neuroendocrine tumor night blindness nutmeg liver obsolete asthenopia osteoarthritis osteosarcoma ovarian cancer ovarian carcinoma pancreatic cancer pancreatic carcinoma papillary adenocarcinoma papillary renal cell carcinoma patent foramen ovale pathologic nystagmus peripheral artery disease peripheral vascular disease phobic disorder plasmacytoma polycythemia vera premature ejaculation primary pulmonary hypertension prostate cancer prostate carcinoma psychologic dyspareunia pterygium pulmonary embolism red color blindness red-green color blindness rheumatoid arthritis schizophrenia scoliosis seminoma sensorineural hearing loss sick sinus syndrome silent myocardial infarction skin melanoma spina bifida spinocerebellar ataxia type 8 split hand-foot malformation 1 spondyloepimetaphyseal dysplasia, Strudwick type spondylometaphyseal dysplasia with cone-rod dystrophy spontaneous ocular nystagmus squamous cell carcinoma squamous cell neoplasm subacute bacterial endocarditis superior mesenteric artery syndrome testicular cancer testis seminoma tethered spinal cord syndrome thyroid gland papillary carcinoma thyrotoxicosis tongue squamous cell carcinoma type 2 diabetes mellitus urinary bladder cancer visual epilepsy
9468	phosphate cytidylyltransferase 1B, choline	PCYT1B CCT-beta CCTbeta CTB CTP:phosphocholine cytidylyltransferase-beta choline-phosphate cytidylyltransferase beta phosphorylcholine transferase beta	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 Clouston syndrome Leber congenital amaurosis 1 Pick's disease Reye syndrome adult respiratory distress syndrome allergic rhinitis amyotrophic lateral sclerosis arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease atherosclerosis breast cancer breast carcinoma breast ductal carcinoma cancer cerebral degeneration cholera colon cancer colon carcinoma colonic benign neoplasm colorectal cancer coronary artery disease diabetes mellitus diabetic ketoacidosis embryoma hepatocellular carcinoma inflammatory bowel disease 1 inflammatory bowel disease juvenile rheumatoid arthritis large intestine cancer liver cancer liver carcinoma newborn respiratory distress syndrome progressive muscular atrophy prostate cancer prostate carcinoma type 2 diabetes mellitus ulcerative colitis urinary tract obstruction vasomotor rhinitis
5833	phosphate cytidylyltransferase 2, ethanolamine	PCYT2 CTP:phosphoethanolamine cytidylyltransferase ET ethanolamine-phosphate cytidylyltransferase: phosphorylethanolamine transferase	Charcot-Marie-Tooth disease type 5 MASA syndrome Mast syndrome SPOAN syndrome Troyer syndrome cancer cerebral degeneration embryoma 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 82 hereditary spastic paraplegia 8 hereditary spastic paraplegia 9A hereditary spastic paraplegia 9B hereditary spastic paraplegia

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