GlyCosmos Portal

Homo sapiens (human)

Summary

Taxonomy ID: 9606
PubChem Taxonomy: 9606

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

Displaying entries **2776 - 2800** of **9988** in total

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Gene ID	Gene Name ▼	Gene Symbol	Disease Ontology
93183	phosphatidylinositol glycan anchor biosynthesis class M	PIGM DPM:GlcN-(acyl-)PI mannosyltransferase GPI mannosyltransferase 1 GPI-MT-I PIG-M dol-P-Man dependent GPI mannosyltransferase	Budd-Chiari syndrome epilepsy focal epilepsy paroxysmal nocturnal hemoglobinuria partial motor epilepsy portal hypertension portal vein thrombosis thrombophilia visual epilepsy
9487	phosphatidylinositol glycan anchor biosynthesis class L	PIGL N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase N-acetylglucosaminylphosphatidylinositol deacetylase PIG-L	CAKUT2 CHIME syndrome Cogan syndrome Hailey-Hailey disease Hirschsprung's disease Rothmund-Thomson syndrome T-cell acute lymphoblastic leukemia Unverricht-Lundborg syndrome acquired hyperkeratosis acute biphenotypic leukemia acute leukemia acute lymphoblastic leukemia amyotrophic lateral sclerosis anodontia autistic disorder autosomal dominant cutis laxa 1 autosomal dominant cutis laxa 2 autosomal dominant cutis laxa 3 autosomal dominant cutis laxa 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 blepharospasm capillary disease cerebral degeneration chronic ulcer of skin cleft palate coloboma congenital ptosis craniosynostosis cutis laxa dextro-looped transposition of the great arteries diffuse interstitial keratitis disease of mental health early myoclonic encephalopathy epilepsy esotropia focal hand dystonia granuloma annulare hereditary hemorrhagic telangiectasia hydronephrosis hyperopia hypertropia hypotrichosis ichthyosis intellectual disability isolated cleft palate learning disability lymphoblastic lymphoma mal de Meleda mechanical strabismus monocular esotropia multiple types of congenital heart defects 6 nonepidermolytic palmoplantar keratoderma obsolete dextro-looped transposition of the great arteries 1 oligohydramnios ophthalmoplegia palmoplantar keratosis progressive muscular atrophy psychotic disorder ptosis recurrent corneal erosion restrictive dermopathy scoliosis sensorineural hearing loss strabismus syndromic X-linked intellectual disability 94 telangiectasis tetralogy of Fallot tooth agenesis ventricular septal defect visual epilepsy
10026	phosphatidylinositol glycan anchor biosynthesis class K	PIGK GPI transamidase subunit GPI-anchor transamidase GPI8 GPI8 homolog (S. cerevisiae) PIG-K hGPI8	adult lymphoma cancer central nervous system lymphoma colorectal cancer colorectal carcinoma hepatocellular carcinoma large intestine cancer liver cancer lymphoma obsolete ymphosarcoma
5283	phosphatidylinositol glycan anchor biosynthesis class H	PIGH GPI-H phosphatidylinositol N-acetylglucosaminyltransferase subunit H	autistic disorder cancer embryoma epilepsy microcephaly visual epilepsy
54872	phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group)	PIGG FLJ20265 GPI ethanolamine phosphate transferase 2 GPI7 LAS21 LAS21 (GPI7) homolog (S. cerevisiae)	cerebral degeneration epilepsy intellectual disability learning disability placental insufficiency visual epilepsy
5281	phosphatidylinositol glycan anchor biosynthesis class F	PIGF PIG-F	arteriosclerotic cardiovascular disease atherosclerosis bone osteosarcoma cancer cavernous hemangioma chorioangioma colorectal cancer colorectal carcinoma congestive heart failure coronary artery disease embryonal cancer familial retinoblastoma germ cell and embryonal cancer germ cell cancer germinoma glomus tumor hemangioma histiocytoid hemangioma intramuscular hemangioma large intestine cancer lymphangioma osteosarcoma paroxysmal nocturnal hemoglobinuria placental insufficiency retinoblastoma systemic lupus erythematosus trilateral retinoblastoma
5279	phosphatidylinositol glycan anchor biosynthesis class C	PIGC GPI2 PIG-C phosphatidylinositol N-acetylglucosaminyltransferase subunit C	Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease agnosia cerebral degeneration choreatic disease depressive disorder developmental coordination disorder dysthymic disorder dystonia epilepsy focal epilepsy glycosylphosphatidylinositol biosynthesis defect 16 intellectual disability learning disability lingual-facial-buccal dyskinesia major depressive disorder melancholic depression microcephaly neurotic disorder nicotine dependence obsolete infantile epileptic encephalopathy obsolete melancholia partial motor epilepsy stereotypic movement disorder syndromic X-linked intellectual disability 94 syndromic X-linked intellectual disability type 10 visual epilepsy
9488	phosphatidylinositol glycan anchor biosynthesis class B	PIGB GPI mannosyltransferase 3 GPI-MT-III PIG-B dol-P-Man dependent GPI mannosyltransferase III	axonal neuropathy developmental and epileptic encephalopathy 80 epilepsy intellectual disability learning disability sleeping sickness visual epilepsy
5277	phosphatidylinositol glycan anchor biosynthesis class A	PIGA GPI3 GPI3 (SPT14) homolog (S. cerevisiae) PIG-A Phosphatidylinositol N-acetylglucosaminyltransferase subunit A paroxysmal nocturnal hemoglobinuria	Barrett's esophagus Burkitt lymphoma Hirschsprung's disease Marfan syndrome Miller-Dieker lissencephaly syndrome Simpson-Golabi-Behmel syndrome type 1 Simpson-Golabi-Behmel syndrome type 2 Unverricht-Lundborg syndrome West syndrome acute myeloid leukemia acute myocardial infarction antithrombin III deficiency aplastic anemia 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 atypical hemolytic-uremic syndrome autoimmune disease autoimmune lymphoproliferative syndrome autosomal recessive congenital ichthyosis 4B blepharospasm blood coagulation disease bone marrow cancer brain disease cancer chondroma chromosome 17p13.1 deletion syndrome coronary thrombosis dental caries dentin caries developmental and epileptic encephalopathy 3 early infantile epileptic encephalopathy early myoclonic encephalopathy embryoma epilepsy esophagitis esophagus adenocarcinoma essential thrombocythemia extramedullary plasmacytoma fetal erythroblastosis focal hand dystonia gastroesophageal reflux disease gingival hypertrophy gingival overgrowth hematopoietic system disease hemoglobinuria hemolytic anemia hemolytic-uremic syndrome immune system disease inflammatory bowel disease intellectual disability learning disability lissencephaly multiple congenital anomalies-hypotonia-seizures syndrome 2 multiple myeloma myelodysplastic syndrome myeloproliferative neoplasm myocardial infarction obsolete congenital ichthyosiform erythroderma obsolete infantile epileptic encephalopathy paroxysmal nocturnal hemoglobinuria patent foramen ovale peptic esophagitis plasma cell neoplasm plasmacytoma polycythemia vera primary pulmonary hypertension protein C deficiency protein S deficiency pulmonary embolism sensorineural hearing loss silent myocardial infarction situs inversus thrombophilia thrombotic thrombocytopenic purpura transient cerebral ischemia trichohepatoenteric syndrome 1 trichohepatoenteric syndrome tuberous sclerosis vertebrobasilar insufficiency visual epilepsy
8301	phosphatidylinositol binding clathrin assembly protein	PICALM
55300	phosphatidylinositol 4-kinase type 2 beta	PI4K2B FLJ11105 PI4KIIB PIK42B	attention deficit hyperactivity disorder bipolar disorder childhood leukemia chronic myeloid leukemia disease of mental health leukemia psychotic disorder schizophrenia
55361	phosphatidylinositol 4-kinase type 2 alpha	PI4K2A DKFZP761G1923 PI4KII PIK42A	Hermansky-Pudlak syndrome breast cancer cancer embryoma giant cell glioblastoma glioblastoma
5298	phosphatidylinositol 4-kinase beta	PI4KB PI4K-BETA pi4K92	EAST syndrome autosomal dominant nonsyndromic deafness hepatitis C severe acute respiratory syndrome
5297	phosphatidylinositol 4-kinase alpha	PI4KA PI4K-ALPHA phosphatidylinositol 4-kinase III alpha phosphatidylinositol 4-kinase IIIα pi4K230	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 CEDNIK syndrome Pick's disease Reye syndrome anemia cancer cerebral degeneration chromosome 22q11.2 deletion syndrome, distal clubfoot disease of mental health hepatitis C hepatocellular carcinoma hereditary spastic paraplegia 84 hypomyelinating leukodystrophy 2 liver cancer macrocytic anemia prostate cancer prostate carcinoma psychotic disorder schizophrenia
5289	phosphatidylinositol 3-kinase catalytic subunit type 3	PIK3C3 Vps34 hVps34 vacuolar protein sorting 34 homolog	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 Marfan syndrome Pick's disease Reye syndrome bipolar disorder bladder carcinoma breast cancer breast carcinoma cancer carcinoma cardiomyopathy central nervous system cancer cerebral degeneration chronic kidney disease colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma congenital hypothyroidism diabetes mellitus embryoma endomyocardial fibrosis familial hypertrophic cardiomyopathy giant cell glioblastoma glioblastoma hepatitis C high grade glioma hypertrophic cardiomyopathy hypothyroidism inflammatory bowel disease kidney failure large intestine cancer lung benign neoplasm lung cancer lung non-small cell carcinoma melanoma myxedema primary pulmonary hypertension respiratory failure rheumatic fever sarcomatoid carcinoma schizophrenia situs inversus skin melanoma temporal arteritis tuberous sclerosis 1 tuberous sclerosis type 2 diabetes mellitus uremia urinary bladder cancer
9489	phosphatidylglycerophosphate synthase 1	PGS1 DKFZP762M186	acute myeloid leukemia
157310	phosphatidylethanolamine binding protein 4	PEBP4
5037	phosphatidylethanolamine binding protein 1	PEBP1
10400	phosphatidylethanolamine N-methyltransferase	PEMT PEMPT PEMT2	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 Chanarin-Dorfman syndrome Down syndrome Pick's disease Reye syndrome arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease atherosclerosis bladder carcinoma breast cancer breast carcinoma cancer capillary disease cerebral degeneration choline deficiency disease coronary artery disease diabetes mellitus diabetic ketoacidosis gallbladder disease hepatocellular carcinoma hereditary hemorrhagic telangiectasia homocystinuria liver cancer liver carcinoma liver cirrhosis liver disease obesity schizophrenia skin benign neoplasm skin cancer steatotic liver disease telangiectasis type 2 diabetes mellitus urinary bladder cancer
5251	phosphate regulating endopeptidase X-linked	PHEX
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
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
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
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
65979	phosphatase and actin regulator 4	PHACTR4

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