GlyCosmos Portal

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UniProt ID	Protein Name ▲	Gene Symbol	No. of Glycosylation Sites	No. of GlyTouCan IDs	Disease Ontology
P37287	Phosphatidylinositol N-acetylglucosaminyltransferase subunit A	PIGA	1	0	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
Q9H490	Phosphatidylinositol glycan anchor biosynthesis class U protein	PIGU CDC91L1	0	1	bladder carcinoma breast cancer breast carcinoma cancer carcinoma cerebral degeneration colon cancer colonic benign neoplasm colorectal cancer colorectal carcinoma differentiated thyroid gland carcinoma dysplastic nevus syndrome embryoma epilepsy hepatocellular carcinoma intellectual disability large intestine cancer learning disability liver cancer melanoma nasopharynx carcinoma papillary carcinoma sarcomatoid carcinoma scoliosis skin benign neoplasm skin cancer skin melanoma urinary bladder cancer visual epilepsy
Q9UMZ3	Phosphatidylinositol phosphatase PTPRQ	PTPRQ	10	0
Q9NRR6	Phosphatidylinositol polyphosphate 5-phosphatase type IV	INPP5E	0	1	Bannayan-Riley-Ruvalcaba syndrome Bardet-Biedl syndrome 10 Bardet-Biedl syndrome 11 Bardet-Biedl syndrome 12 Bardet-Biedl syndrome 13 Bardet-Biedl syndrome 14 Bardet-Biedl syndrome 15 Bardet-Biedl syndrome 16 Bardet-Biedl syndrome 17 Bardet-Biedl syndrome 18 Bardet-Biedl syndrome 19 Bardet-Biedl syndrome 1 Bardet-Biedl syndrome 2 Bardet-Biedl syndrome 3 Bardet-Biedl syndrome 4 Bardet-Biedl syndrome 5 Bardet-Biedl syndrome 6 Bardet-Biedl syndrome 7 Bardet-Biedl syndrome 8 Bardet-Biedl syndrome 9 Bardet-Biedl syndrome Cogan syndrome Hirschsprung's disease Joubert syndrome 1 Joubert syndrome Kartagener syndrome Klippel-Feil syndrome Laurence-Moon syndrome Meckel syndrome 1 Meckel syndrome adult medulloblastoma autosomal dominant polycystic kidney disease autosomal recessive polycystic kidney disease blindness cancer cataract central sleep apnea childhood medulloblastoma cleft palate clubfoot coloboma of optic nerve coloboma communicating hydrocephalus congenital nystagmus congenital ptosis cystic kidney disease dextrocardia diffuse interstitial keratitis dissociated nystagmus embryoma epilepsy episodic kinesigenic dyskinesia 1 fundus dystrophy glomerulonephritis hepatocellular carcinoma hydrocephalus hypertropia inguinal hernia intellectual disability interstitial lung disease isolated cleft palate kidney disease kidney failure learning disability leukoplakia of penis liver cancer liver cirrhosis mechanical strabismus medulloblastoma medullomyoblastoma melanoma melanotic medulloblastoma nephritis nephrosis non-congenital cyst of kidney obesity obstructive hydrocephalus oculocerebrorenal syndrome ophthalmoplegia patent ductus arteriosus pathologic nystagmus polycystic kidney disease 4 polydactyly portal hypertension primary ciliary dyskinesia 1 primary ciliary dyskinesia ptosis pyoureter scoliosis senile degeneration of brain skin melanoma spondylolisthesis spontaneous ocular nystagmus strabismus viral infectious disease visual epilepsy visual pathway disease
Q00169	Phosphatidylinositol transfer protein alpha isoform	PITPNA PITPN	1	2
P48739	Phosphatidylinositol transfer protein beta isoform	PITPNB	0	1
Q13492	Phosphatidylinositol-binding clathrin assembly protein	PICALM CALM	29	3
Q7Z7B1	Phosphatidylinositol-glycan biosynthesis class W protein	PIGW	1	0	Cogan syndrome Hirschsprung's disease Unverricht-Lundborg syndrome West syndrome alternating hemiplegia of childhood autonomic neuropathy blepharospasm capillary disease central nervous system disease congenital diaphragmatic hernia craniosynostosis diffuse interstitial keratitis early myoclonic encephalopathy epilepsy esotropia focal hand dystonia hereditary hemorrhagic telangiectasia hydronephrosis hyperopia intellectual disability learning disability monocular esotropia nervous system disease obsolete infantile epileptic encephalopathy oligohydramnios pneumonia scoliosis syndromic X-linked intellectual disability 94 telangiectasis visual epilepsy
Q8TBF5	Phosphatidylinositol-glycan biosynthesis class X protein	PIGX	3	3	Bannayan-Riley-Ruvalcaba syndrome Bardet-Biedl syndrome 10 Bardet-Biedl syndrome 11 Bardet-Biedl syndrome 12 Bardet-Biedl syndrome 13 Bardet-Biedl syndrome 14 Bardet-Biedl syndrome 15 Bardet-Biedl syndrome 16 Bardet-Biedl syndrome 17 Bardet-Biedl syndrome 18 Bardet-Biedl syndrome 19 Bardet-Biedl syndrome 1 Bardet-Biedl syndrome 2 Bardet-Biedl syndrome 3 Bardet-Biedl syndrome 4 Bardet-Biedl syndrome 5 Bardet-Biedl syndrome 6 Bardet-Biedl syndrome 7 Bardet-Biedl syndrome 8 Bardet-Biedl syndrome 9 Bardet-Biedl syndrome Laurence-Moon syndrome allergic asthma allergic disease asthma breast cancer breast carcinoma cancer dermatitis embryoma intrinsic asthma polydactyly
P80108	Phosphatidylinositol-glycan-specific phospholipase D	GPLD1 PIGPLD1	10	39	Budd-Chiari syndrome Norum disease Richter's syndrome Tangier disease abetalipoproteinemia acute myocardial infarction arteriosclerotic cardiovascular disease atherosclerosis brain infarction breast cancer breast carcinoma cancer carcinoma choreaacanthocytosis chronic lymphocytic leukemia colon cancer colon carcinoma colonic benign neoplasm colorectal cancer coronary artery disease coronary thrombosis embryoma hypolipoproteinemia large intestine cancer melanoma myocardial infarction nutmeg liver osteoporosis papillary carcinoma prostate cancer prostate carcinoma rheumatoid arthritis sarcomatoid carcinoma silent myocardial infarction skin melanoma succinic semialdehyde dehydrogenase deficiency thyroid adenoma thyroid cancer thyroid gland carcinoma
P48651	Phosphatidylserine synthase 1	PTDSS1 KIAA0024 PSSA	0	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 Bell's palsy Hailey-Hailey disease Laron syndrome Lenz-Majewski hyperostotic dwarfism Pick's disease Reye syndrome Rothmund-Thomson syndrome achondroplasia aortic disease aortic valve disease 2 aortic valve stenosis autistic disorder autosomal dominant cutis laxa 1 autosomal dominant cutis laxa 2 autosomal dominant cutis laxa 3 autosomal dominant cutis laxa autosomal dominant osteopetrosis 2 autosomal recessive cutis laxa type IA autosomal recessive cutis laxa type IB autosomal recessive cutis laxa type II classic type autosomal recessive cutis laxa type IIA autosomal recessive cutis laxa type IIB autosomal recessive cutis laxa type IIC autosomal recessive cutis laxa type IID autosomal recessive cutis laxa type IIIA autosomal recessive cutis laxa type IIIB autosomal recessive osteopetrosis 7 cerebral degeneration choanal atresia communicating hydrocephalus cryptorchidism cutis laxa dental enamel hypoplasia facial nerve disease facial paralysis humeroradial synostosis hydrocephalus hypogonadism hypospadias inguinal hernia intellectual disability lateral meningocele syndrome learning disability mal de Meleda obstructive hydrocephalus osteopetrosis osteosclerosis placental insufficiency priapism restrictive dermopathy scoliosis senile degeneration of brain sensorineural hearing loss syndactyly tongue disease
Q9BVG9	Phosphatidylserine synthase 2	PTDSS2 PSS2	1	5
O95394	Phosphoacetylglucosamine mutase	PGM3 AGM1	0	1	Desbuquois dysplasia Laron syndrome MHC class II deficiency Richter's syndrome achondroplasia adenosine deaminase deficiency agranulocytosis allergic asthma allergic rhinitis asthma atopic dermatitis bacterial sepsis breast cancer breast carcinoma bronchiectasis central nervous system lymphoma chronic ethmoiditis chronic lymphocytic leukemia chronic sphenoidal sinusitis chronic ulcer of skin combined T cell and B cell immunodeficiency congenital disorder of glycosylation cystic fibrosis dermatitis epilepsy esophagitis gastroesophageal reflux disease granuloma annulare hemolytic anemia hyper IgE recurrent infection syndrome 1 hypereosinophilic syndrome intellectual disability intrinsic asthma lactose intolerance learning disability lymphoma lymphopenia membranoproliferative glomerulonephritis mucopolysaccharidosis IV multiple epiphyseal dysplasia neuropathy neutropenia obsolete ymphosarcoma osteochondrodysplasia osteomyelitis otitis media pancytopenia peptic esophagitis peripheral nervous system disease polyneuropathy primary immunodeficiency disease scoliosis sensorineural hearing loss severe combined immunodeficiency severe congenital neutropenia subacute sclerosing panencephalitis vasomotor rhinitis visual epilepsy
Q16822	Phosphoenolpyruvate carboxykinase [GTP], mitochondrial	PCK2 PEPCK2	1	1	abdominal obesity-metabolic syndrome 1 bone osteosarcoma bronchus cancer bronchus carcinoma cancer childhood osteosarcoma diabetes mellitus diabetic ketoacidosis disease of metabolism embryoma hepatitis C hepatocellular carcinoma hyperglycemia hypoglycemia kwashiorkor liver cancer liver carcinoma lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma marasmus melanoma nutrition disease obesity osteosarcoma prostate cancer prostate carcinoma protein-energy malnutrition pyruvate carboxylase deficiency disease pyruvate decarboxylase deficiency rectal benign neoplasm rectum adenocarcinoma rectum cancer skin melanoma steatotic liver disease type 2 diabetes mellitus viral infectious disease
P35558	Phosphoenolpyruvate carboxykinase, cytosolic [GTP]	PCK1 PEPCK1	1	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 Pick's disease Reye syndrome abdominal obesity-metabolic syndrome 1 biliary atresia cancer celiac disease cerebral degeneration colorectal cancer colorectal carcinoma congenital generalized lipodystrophy type 1 congenital generalized lipodystrophy type 2 congenital generalized lipodystrophy type 3 congenital generalized lipodystrophy type 4 congestive heart failure cryptococcosis cystic fibrosis diabetes mellitus diabetic ketoacidosis embryoma epilepsy gestational diabetes hepatic coma hepatic encephalopathy hepatocellular carcinoma hyperglycemia hypoglycemia lactic acidosis large intestine cancer leprosy lipoatrophic diabetes mellitus lipodystrophy liver cancer liver carcinoma maturity-onset diabetes of the young multiple sclerosis obesity optic atrophy placental insufficiency pyruvate carboxylase deficiency disease pyruvate decarboxylase deficiency schizophrenia steatotic liver disease type 2 diabetes mellitus visual epilepsy
Q8TCT1	Phosphoethanolamine/phosphocholine phosphatase	PHOSPHO1	0	1	diabetes mellitus osteomalacia rickets type 2 diabetes mellitus
Q6VY07	Phosphofurin acidic cluster sorting protein 1	PACS1 KIAA1175	3	1
Q86VP3	Phosphofurin acidic cluster sorting protein 2	PACS2 KIAA0602 PACS1L	2	1
P36871	Phosphoglucomutase-1	PGM1	1	1	Charcot-Marie-Tooth disease X-linked dominant 1 Charcot-Marie-Tooth disease X-linked dominant 6 Charcot-Marie-Tooth disease X-linked recessive 2 Charcot-Marie-Tooth disease X-linked recessive 3 Charcot-Marie-Tooth disease X-linked recessive 4 Charcot-Marie-Tooth disease X-linked recessive 5 Charcot-Marie-Tooth disease axonal type 2C Charcot-Marie-Tooth disease axonal type 2F Charcot-Marie-Tooth disease axonal type 2H Charcot-Marie-Tooth disease axonal type 2K Charcot-Marie-Tooth disease axonal type 2L Charcot-Marie-Tooth disease axonal type 2N Charcot-Marie-Tooth disease axonal type 2O Charcot-Marie-Tooth disease axonal type 2P Charcot-Marie-Tooth disease axonal type 2Q Charcot-Marie-Tooth disease axonal type 2T Charcot-Marie-Tooth disease axonal type 2U Charcot-Marie-Tooth disease dominant intermediate A Charcot-Marie-Tooth disease dominant intermediate B Charcot-Marie-Tooth disease dominant intermediate C Charcot-Marie-Tooth disease dominant intermediate D Charcot-Marie-Tooth disease dominant intermediate E Charcot-Marie-Tooth disease dominant intermediate F Charcot-Marie-Tooth disease recessive intermediate B Charcot-Marie-Tooth disease recessive intermediate C Charcot-Marie-Tooth disease recessive intermediate D Charcot-Marie-Tooth disease type 1A Charcot-Marie-Tooth disease type 1B Charcot-Marie-Tooth disease type 1C Charcot-Marie-Tooth disease type 1D Charcot-Marie-Tooth disease type 1E Charcot-Marie-Tooth disease type 1F Charcot-Marie-Tooth disease type 2 Charcot-Marie-Tooth disease type 2A1 Charcot-Marie-Tooth disease type 2A2A Charcot-Marie-Tooth disease type 2B1 Charcot-Marie-Tooth disease type 2B2 Charcot-Marie-Tooth disease type 2B Charcot-Marie-Tooth disease type 2D Charcot-Marie-Tooth disease type 2E Charcot-Marie-Tooth disease type 2I Charcot-Marie-Tooth disease type 2J Charcot-Marie-Tooth disease type 2R Charcot-Marie-Tooth disease type 2Y Charcot-Marie-Tooth disease type 4A Charcot-Marie-Tooth disease type 4B1 Charcot-Marie-Tooth disease type 4B2 Charcot-Marie-Tooth disease type 4B3 Charcot-Marie-Tooth disease type 4C Charcot-Marie-Tooth disease type 4D Charcot-Marie-Tooth disease type 4E Charcot-Marie-Tooth disease type 4F Charcot-Marie-Tooth disease type 4G Charcot-Marie-Tooth disease type 4H Charcot-Marie-Tooth disease type 4J Charcot-Marie-Tooth disease type 4K Charcot-Marie-Tooth disease Laron syndrome Marfan syndrome NGLY1-deficiency Plasmodium falciparum malaria Plasmodium vivax malaria X-linked dilated cardiomyopathy achondroplasia actinic keratosis agenesis of the corpus callosum with peripheral neuropathy cancer cardiomyopathy cleft palate colorectal cancer colorectal carcinoma congenital disorder of glycosylation It congenital disorder of glycosylation type I congenital disorder of glycosylation coronary artery disease cystinuria diabetes mellitus diabetic ketoacidosis dilated cardiomyopathy 1A 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 disease of metabolism embryoma endomyocardial fibrosis familial hyperinsulinemic hypoglycemia 1 familial hyperinsulinemic hypoglycemia 2 familial periodic paralysis galactosemia gestational trophoblastic neoplasm glucosephosphate dehydrogenase deficiency glycogen storage disease IXa glycogen storage disease IXb glycogen storage disease IXc glycogen storage disease IXd glycogen storage disease Ia glycogen storage disease V glycogen storage disease hepatitis hepatocellular carcinoma hereditary neuropathy with liability to pressure palsies hereditary sensory and autonomic neuropathy type 2 hyperinsulinemic hypoglycemia hypertrophic cardiomyopathy hypoglycemia isolated cleft palate large intestine cancer liver cancer localized scleroderma lupus nephritis malaria malignant teratoma mature teratoma mood disorder motor peripheral neuropathy myopathy obsolete hereditary motor and sensory neuropathy with agenesis of the corpus callosum obsolete type 1 diabetes mellitus 9 papillary adenocarcinoma papillary renal cell carcinoma phenylketonuria psoriatic arthritis rheumatoid arthritis scleroderma seborrheic keratosis sick sinus syndrome situs inversus skin disease steatotic liver disease systemic lupus erythematosus systemic scleroderma teratoma thyroid gland papillary carcinoma tuberculosis tuberous sclerosis 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
P00558	Phosphoglycerate kinase 1	PGK1 PGKA	6	1	Charcot-Marie-Tooth disease X-linked dominant 1 Charcot-Marie-Tooth disease X-linked dominant 6 Charcot-Marie-Tooth disease X-linked recessive 2 Charcot-Marie-Tooth disease X-linked recessive 3 Charcot-Marie-Tooth disease X-linked recessive 4 Charcot-Marie-Tooth disease X-linked recessive 5 Charcot-Marie-Tooth disease axonal type 2C Charcot-Marie-Tooth disease axonal type 2F Charcot-Marie-Tooth disease axonal type 2H Charcot-Marie-Tooth disease axonal type 2K Charcot-Marie-Tooth disease axonal type 2L Charcot-Marie-Tooth disease axonal type 2N Charcot-Marie-Tooth disease axonal type 2O Charcot-Marie-Tooth disease axonal type 2P Charcot-Marie-Tooth disease axonal type 2Q Charcot-Marie-Tooth disease axonal type 2T Charcot-Marie-Tooth disease axonal type 2U Charcot-Marie-Tooth disease dominant intermediate A Charcot-Marie-Tooth disease dominant intermediate B Charcot-Marie-Tooth disease dominant intermediate C Charcot-Marie-Tooth disease dominant intermediate D Charcot-Marie-Tooth disease dominant intermediate E Charcot-Marie-Tooth disease dominant intermediate F Charcot-Marie-Tooth disease recessive intermediate B Charcot-Marie-Tooth disease recessive intermediate C Charcot-Marie-Tooth disease recessive intermediate D Charcot-Marie-Tooth disease type 1A Charcot-Marie-Tooth disease type 1B Charcot-Marie-Tooth disease type 1C Charcot-Marie-Tooth disease type 1D Charcot-Marie-Tooth disease type 1E Charcot-Marie-Tooth disease type 1F Charcot-Marie-Tooth disease type 2 Charcot-Marie-Tooth disease type 2A1 Charcot-Marie-Tooth disease type 2A2A Charcot-Marie-Tooth disease type 2B1 Charcot-Marie-Tooth disease type 2B2 Charcot-Marie-Tooth disease type 2B Charcot-Marie-Tooth disease type 2D Charcot-Marie-Tooth disease type 2E Charcot-Marie-Tooth disease type 2I Charcot-Marie-Tooth disease type 2J Charcot-Marie-Tooth disease type 2R Charcot-Marie-Tooth disease type 2Y Charcot-Marie-Tooth disease type 4A Charcot-Marie-Tooth disease type 4B1 Charcot-Marie-Tooth disease type 4B2 Charcot-Marie-Tooth disease type 4B3 Charcot-Marie-Tooth disease type 4C Charcot-Marie-Tooth disease type 4D Charcot-Marie-Tooth disease type 4E Charcot-Marie-Tooth disease type 4F Charcot-Marie-Tooth disease type 4G Charcot-Marie-Tooth disease type 4H Charcot-Marie-Tooth disease type 4J Charcot-Marie-Tooth disease type 4K Charcot-Marie-Tooth disease Gilbert syndrome Kawasaki disease Menkes disease Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Wiskott-Aldrich syndrome X-linked cleft palate with or without ankyloglossia X-linked distal spinal muscular atrophy 3 X-linked dystonia-parkinsonism X-linked severe combined immunodeficiency adenosquamous carcinoma agenesis of the corpus callosum with peripheral neuropathy amyotrophic lateral sclerosis anaplastic astrocytoma anemia ankyloblepharon-ectodermal defects-cleft lip/palate syndrome bilirubin metabolic disorder blindness brain cancer breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer carcinoma cardiomyopathy central nervous system cancer childhood cerebral astrocytoma chromophobe renal cell carcinoma clear cell renal cell carcinoma collecting duct carcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma combined T cell and B cell immunodeficiency congestive heart failure cystinuria embryoma endometrial adenocarcinoma endometrial cancer endometrial carcinoma endomyocardial fibrosis epilepsy esophageal cancer esophageal carcinoma essential thrombocythemia familial periodic paralysis fibrillary astrocytoma fundus dystrophy galactosemia gallbladder cancer gallbladder carcinoma gemistocytic astrocytoma giant cell glioblastoma glioblastoma gliosarcoma glucosephosphate dehydrogenase deficiency glycogen storage disease IXa glycogen storage disease IXb glycogen storage disease IXc glycogen storage disease IXd glycogen storage disease Ia glycogen storage disease hemolytic anemia hepatocellular carcinoma hereditary neuropathy with liability to pressure palsies hereditary sensory and autonomic neuropathy type 2 hereditary spherocytosis high grade glioma hypertrophic cardiomyopathy hypohidrotic ectodermal dysplasia intellectual disability juvenile pilocytic astrocytoma kidney failure large intestine cancer learning disability liver cancer liver carcinoma lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma lupus erythematosus macrocytic anemia malignant astrocytoma melanoma microphthalmia migraine mixed glioma motor peripheral neuropathy myelodysplastic syndrome myoglobinuria myopathy neuroblastoma nonpapillary renal cell carcinoma obsolete Matthew-Wood syndrome obsolete hereditary motor and sensory neuropathy with agenesis of the corpus callosum occipital horn syndrome ovarian cancer ovarian carcinoma oxyphilic adenoma pancreatic cancer pancreatic carcinoma pancreatic ductal adenocarcinoma papillary adenocarcinoma papillary renal cell carcinoma pilocytic astrocytoma progressive muscular atrophy prostate cancer prostate carcinoma protoplasmic astrocytoma pseudosarcomatous fibromatosis pulmonary large cell neuroendocrine carcinoma pure red-cell aplasia renal carcinoma renal cell carcinoma retinitis pigmentosa 10 rheumatoid arthritis sarcomatoid carcinoma sarcomatoid renal cell carcinoma schizophrenia skin melanoma spinal muscular atrophy stomach cancer stomach carcinoma subependymal giant cell astrocytoma systemic lupus erythematosus thyroid gland papillary carcinoma uterine corpus cancer visual epilepsy
P07205	Phosphoglycerate kinase 2	PGK2 PGKB	0	1	azoospermia cryptorchidism
P18669	Phosphoglycerate mutase 1	PGAM1 PGAMA	1	1	Creutzfeldt-Jakob disease Sertoli cell-only syndrome X-linked spermatogenic failure 1 Y-linked spermatogenic failure 1 adenocarcinoma adenoma anaplastic astrocytoma anemia arthritis arthropathy bipolar disorder bladder carcinoma bone osteosarcoma breast cancer breast carcinoma cancer carcinoma central nervous system cancer childhood cerebral astrocytoma childhood osteosarcoma colorectal cancer colorectal carcinoma cribriform carcinoma embryoma fibrillary astrocytoma gemistocytic astrocytoma giant cell glioblastoma glioblastoma gliosarcoma granular cell carcinoma hepatocellular carcinoma high grade glioma juvenile pilocytic astrocytoma large intestine cancer leiomyoma liver cancer lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma macrocytic anemia malaria malignant astrocytoma microphthalmia mixed glioma myofibroma obsolete Matthew-Wood syndrome oligospermia osteoarthritis osteosarcoma pancreatic ductal adenocarcinoma pilocytic astrocytoma prostate cancer prostate carcinoma protoplasmic astrocytoma sarcomatoid carcinoma squamous cell carcinoma stomach cancer stomach carcinoma subependymal giant cell astrocytoma tongue squamous cell carcinoma tubular adenocarcinoma urinary bladder cancer uterine fibroid
Q99570	Phosphoinositide 3-kinase regulatory subunit 4	PIK3R4 VPS15	4	1
Q5HYD7	Phosphoinositide phospholipase C	DKFZp686K101	2	0
Q96FE7	Phosphoinositide-3-kinase-interacting protein 1	PIK3IP1 HGFL	6	20

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