GlyCosmos Portal

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UniProt ID	Protein Name	Gene Symbol	No. of Glycosylation Sites	No. of GlyTouCan IDs	Disease Ontology ▼
Q86Z14	Beta-klotho	KLB	13	5	Clostridium difficile colitis allergic rhinitis autosomal dominant hypophosphatemic rickets breast cancer breast carcinoma cancer cartilage-hair hypoplasia diabetes mellitus diabetic ketoacidosis diarrhea disease of metabolism embryoma familial hyperlipidemia gestational diabetes hepatocellular carcinoma intrahepatic cholestasis of pregnancy invasive ductal carcinoma irritable bowel syndrome kidney failure liver cancer lung cancer lung non-small cell carcinoma neurocirculatory asthenia nodular prostate obesity ovarian disease papillary adenocarcinoma papillary renal cell carcinoma prostate cancer prostate carcinoma prostatic adenoma steatotic liver disease thyroid adenoma thyroid cancer thyroid gland anaplastic carcinoma thyroid gland carcinoma thyroid gland follicular carcinoma thyroid gland papillary carcinoma type 2 diabetes mellitus uremia vasomotor rhinitis
P30101	Protein disulfide-isomerase A3	PDIA3 ERP57 ERP60 GRP58	12	2	Clostridium difficile colitis Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Zika fever absence epilepsy acute myeloid leukemia adenocarcinoma adenoma allergic asthma amyotrophic lateral sclerosis arthritis arthropathy asphyxia neonatorum asthma autoimmune hepatitis breast cancer breast carcinoma breast ductal carcinoma cancer carcinoma central nervous system cancer cervical adenocarcinoma cervical cancer cervical squamous cell carcinoma cervix carcinoma cervix uteri carcinoma in situ childhood absence epilepsy chromophobe renal cell carcinoma clear cell renal cell carcinoma collecting duct carcinoma colorectal cancer colorectal carcinoma cribriform carcinoma depressive disorder dysplastic nevus syndrome embryoma endocrine system disease endometrial cancer endometrial carcinoma endometriosis of uterus endometriosis epilepsy essential thrombocythemia giant cell glioblastoma glioblastoma gliosarcoma granular cell carcinoma hepatitis B hepatitis C hepatitis hepatocellular carcinoma high grade glioma inflammatory and toxic neuropathy influenza intellectual disability intrinsic asthma invasive ductal carcinoma irritable bowel syndrome large intestine cancer laryngeal benign neoplasm laryngeal carcinoma larynx cancer learning disability liver cancer liver cirrhosis lung cancer lung non-small cell carcinoma major depressive disorder male infertility melancholic depression melanoma mixed glioma mood disorder myelodysplastic syndrome neuroblastoma neurocirculatory asthenia neurodegenerative disease neurotic disorder nonpapillary renal cell carcinoma obsolete melancholia osteoarthritis ovarian cancer ovarian carcinoma papillary renal cell carcinoma platelet-type bleeding disorder 11 platelet-type bleeding disorder 3 platelet-type bleeding disorder 8 platelet-type bleeding disorder 9 post-traumatic stress disorder primary pulmonary hypertension prion disease progressive muscular atrophy prostate cancer prostate carcinoma pulmonary hypertension renal carcinoma renal cell carcinoma rheumatoid arthritis sarcomatoid carcinoma sarcomatoid renal cell carcinoma skin melanoma spinocerebellar ataxia type 17 squamous cell carcinoma steatotic liver disease stomach cancer stomach carcinoma tongue squamous cell carcinoma tubular adenocarcinoma uterine corpus cancer visual epilepsy von Willebrand's disease
O00602	Ficolin-1	FCN1 FCNM	1	0	Clostridium difficile colitis Kawasaki disease acute myocardial infarction arthritis arthropathy autoimmune disease autoimmune lymphoproliferative syndrome brain ischemia brain stem infarction cancer cerebral artery occlusion cerebral infarction cerebrovascular disease chronic fatigue syndrome colorectal cancer colorectal carcinoma coronary artery disease coronary thrombosis cystic fibrosis embryoma encephalomyelitis familial hyperlipidemia immune system disease large intestine cancer lepromatous leprosy leprosy lupus nephritis myocardial infarction perinatal necrotizing enterocolitis rheumatic fever rheumatoid arthritis silent myocardial infarction transient cerebral ischemia vasculitis vertebrobasilar insufficiency
P17900	Ganglioside GM2 activator	GM2A	1	0	Clostridium difficile colitis GM2 gangliosidosis, AB variant GM2 gangliosidosis Laron syndrome Sandhoff disease Schimke immuno-osseous dysplasia Tay-Sachs disease achondroplasia alcohol dependence alcohol use disorder anxiety disorder blindness breast cancer breast carcinoma cancer cerebral degeneration choreatic disease chronic obstructive pulmonary disease dementia dystonia embryoma epilepsy generalized anxiety disorder neurodegenerative disease neuroendocrine carcinoma nicotine dependence perinatal necrotizing enterocolitis progressive muscular atrophy retinal disease retinitis spinal muscular atrophy syndromic X-linked intellectual disability type 10 visual epilepsy vulvovaginal candidiasis
P20933	N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase	AGA	4	11	Clostridium difficile colitis Down syndrome Fabry disease Klippel-Feil syndrome Laron syndrome abdominal obesity-metabolic syndrome 1 achalasia achondroplasia acne acrodermatitis agranulocytosis alcoholic hepatitis allergic bronchopulmonary aspergillosis alopecia androgenic alopecia arthritis arthropathy aspartylglucosaminuria attention deficit hyperactivity disorder cancer cataract celiac disease cerebral degeneration cervical squamous cell carcinoma cholecystitis chylomicron retention disease clubfoot common wart congenital disorder of glycosylation craniosynostosis dental caries dentin caries dermatitis herpetiformis diabetes mellitus diabetic ketoacidosis diarrhea dystonia encephalitis encephalomyelitis enterocele eosinophilic esophagitis epilepsy esophageal disease familial isolated hypoparathyroidism fucosidosis functional diarrhea gestational diabetes gingival hypertrophy gingival overgrowth goiter hepatitis C hepatocellular carcinoma hypoparathyroidism immunoglobulin alpha deficiency inflammatory bowel disease 1 inflammatory bowel disease influenza inguinal hernia intellectual disability irritable bowel syndrome learning disability lingual-facial-buccal dyskinesia lipid storage disease livedoid vasculitis liver cancer liver cirrhosis lupus nephritis lysosomal storage disease megaesophagus microcephaly mitral valve insufficiency mitral valve prolapse mucopolysaccharidosis I mucopolysaccharidosis II mucopolysaccharidosis III mucopolysaccharidosis IV mucopolysaccharidosis Ih mucopolysaccharidosis VI mucopolysaccharidosis multiple sclerosis myelitis neurocirculatory asthenia neutropenia obsolete dyspepsia obsolete type 1 diabetes mellitus 9 omphalocele otitis media peroxisome biogenesis disorder 10A placental insufficiency primary sclerosing cholangitis schizoaffective disorder schizophrenia schizophreniform disorder sclerosing cholangitis scoliosis selective IgA deficiency disease severe congenital neutropenia skeletal tuberculosis speech disorder spondylolisthesis spondylolysis stomach cancer stomach carcinoma stomach disease thyroid gland disease tropical sprue tuberculosis 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 ulcerative colitis umbilical hernia vascular skin disease visual epilepsy
P10645	Chromogranin-A	CHGA	6	8	Clostridium difficile colitis Creutzfeldt-Jakob disease Ewing sarcoma IgA glomerulonephritis Peutz-Jeghers syndrome abdominal obesity-metabolic syndrome 1 acute myocardial infarction adenocarcinoma adenoma adrenal adenoma adrenal carcinoma adrenal cortex cancer adrenal gland cancer adrenocortical carcinoma adult lymphoma amyotrophic lateral sclerosis anxiety disorder aortic atherosclerosis arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease arthritis arthropathy atherosclerosis atrial fibrillation atrophic gastritis bladder carcinoma breast cancer breast carcinoma cancer carcinoma cerebral primitive neuroectodermal tumor cervix small cell carcinoma childhood angiosarcoma childhood lymphoma chronic fatigue syndrome chronic kidney disease colitis collagenous colitis colon cancer colon carcinoma colonic benign neoplasm colorectal cancer congestive heart failure coronary artery disease coronary thrombosis cribriform carcinoma deafness-dystonia-optic neuronopathy syndrome dermatitis diabetes mellitus diabetic ketoacidosis diarrhea duodenum cancer embryoma encephalitis encephalomyelitis endocrine gland cancer esophageal cancer esophageal carcinoma essential hypertension familial adenomatous polyposis follicular adenoma gastrinoma gastroenteritis generalized anxiety disorder granular cell carcinoma heart cancer hypertension hypoglycemia ileitis ileocolitis inflammatory bowel disease 1 inflammatory bowel disease insulinoma intermediate coronary syndrome irritable bowel syndrome islet cell tumor kidney failure large intestine cancer lung cancer lung disease lung non-small cell carcinoma lung oat cell carcinoma lung small cell carcinoma lymphocytic colitis medulloblastoma medulloepithelioma microcystic adenoma multiple sclerosis myelitis myocardial infarction nephrosclerosis neuroblastoma neurocirculatory asthenia neurodegenerative disease neuroectodermal tumor neuroendocrine carcinoma neuroendocrine tumor obesity obsolete dyspepsia obsolete embryonal Tumor with Multilayered Rosettes, C19MC-Altered osteoarthritis pancreatic cancer pancreatic carcinoma pancreatic ductal adenocarcinoma papillary adenoma paraganglioma periodontitis pheochromocytoma phobic disorder pineal gland cancer pineoblastoma progressive muscular atrophy prolactinoma prostate cancer prostate carcinoma pulmonary embolism pulmonary large cell neuroendocrine carcinoma renal hypertension sarcomatoid carcinoma schizophrenia silent myocardial infarction small intestine cancer squamous cell carcinoma stomach cancer stomach carcinoma supratentorial primitive neuroectodermal tumor thyroid gland medullary carcinoma tongue squamous cell carcinoma transitional cell carcinoma trichohepatoenteric syndrome 1 trichohepatoenteric syndrome tubular adenocarcinoma type 2 diabetes mellitus ulcerative colitis ureter small cell carcinoma urinary bladder cancer von Hippel-Lindau disease
Q8NFW8	N-acylneuraminate cytidylyltransferase	CMAS	0	1	Churg-Strauss syndrome Coffin-Siris syndrome 1 Coffin-Siris syndrome Graves' disease Norrie disease autistic disorder cancer chromophobe renal cell carcinoma chronic kidney disease clear cell renal cell carcinoma collecting duct carcinoma colorectal cancer colorectal carcinoma embryoma epithelioid sarcoma gastrointestinal stromal tumor gastrointestinal system cancer giant cell glioblastoma glioblastoma head and neck squamous cell carcinoma high grade glioma hyperthyroidism intellectual disability large intestine cancer laryngeal benign neoplasm laryngeal carcinoma larynx cancer learning disability liver cirrhosis mediastinal malignant lymphoma melanoma nonpapillary renal cell carcinoma obesity papillary renal cell carcinoma paraganglioma primary immunodeficiency disease prostate cancer prostate carcinoma renal artery obstruction renal carcinoma renal cell carcinoma sarcoma sarcomatoid renal cell carcinoma skin melanoma spindle cell sarcoma steatotic liver disease thyrotoxicosis transitional cell carcinoma tuberculosis vasculitis
O14798	Tumor necrosis factor receptor superfamily member 10C	TNFRSF10C DCR1 LIT TRAILR3 TRID	4	1	Churg-Strauss syndrome Coffin-Siris syndrome 1 Coffin-Siris syndrome Crohn's colitis Crohn's disease Down syndrome Richter's syndrome acute myeloid leukemia acute promyelocytic leukemia adenocarcinoma adenoma adult lymphoma agranulocytosis benign ependymoma benign mesothelioma bladder carcinoma breast cancer breast carcinoma cancer cellular ependymoma central nervous system cancer central nervous system lymphoma cervical adenocarcinoma cervical cancer cervix carcinoma childhood leukemia childhood lymphoma chronic lymphocytic leukemia chronic obstructive pulmonary disease congenital heart disease cribriform carcinoma cystadenoma distal arthrogryposis embryoma endometrial cancer endometrial carcinoma essential thrombocythemia familial hypercholesterolemia giant cell glioblastoma glioblastoma gliosarcoma granular cell carcinoma hepatocellular carcinoma high grade glioma hypereosinophilic syndrome inflammatory bowel disease 1 inflammatory bowel disease intellectual disability juvenile rheumatoid arthritis learning disability leukemia leukopenia liver cancer lung cancer lung non-small cell carcinoma lymphoma malignant mesothelioma melanoma mixed glioma multiple myeloma multiple sclerosis myelodysplastic syndrome myxopapillary ependymoma neuroblastoma neutropenia obsolete ymphosarcoma ovarian cancer ovarian carcinoma pancreatic cancer pancreatic carcinoma papillary ependymoma periodontitis post-traumatic stress disorder prostate cancer prostate carcinoma severe congenital neutropenia skin melanoma systemic lupus erythematosus tanycytic ependymoma tongue squamous cell carcinoma tubular adenocarcinoma ulcerative colitis urinary bladder cancer uterine corpus cancer uveal melanoma
Q9UNP4	Lactosylceramide alpha-2,3-sialyltransferase	ST3GAL5 SIAT9	3	2	Charcot-Marie-Tooth disease type 5 MASA syndrome Mast syndrome Niemann-Pick disease type C1 Niemann-Pick disease Rett syndrome SPOAN syndrome Troyer syndrome Unverricht-Lundborg syndrome agnosia arthritis arthropathy blepharospasm blindness cerebral palsy congenital nystagmus developmental and epileptic encephalopathy 36 dissociated nystagmus dystonia early myoclonic encephalopathy endocrine exophthalmos focal hand dystonia hemiplegia hepatocellular carcinoma 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 intellectual disability learning disability lingual-facial-buccal dyskinesia liver cancer locked-in syndrome microcephaly optic atrophy paroxysmal nonkinesigenic dyskinesia 1 paroxysmal nonkinesigenic dyskinesia 2 pathologic nystagmus quadriplegia salt and pepper syndrome sensorineural hearing loss spastic diplegia spastic monoplegia spastic quadriplegic cerebral palsy spontaneous ocular nystagmus status epilepticus stereotypic movement disorder syndromic X-linked intellectual disability 94 thromboangiitis obliterans trichohepatoenteric syndrome 1 trichohepatoenteric syndrome visual epilepsy
Q00973	Beta-1,4 N-acetylgalactosaminyltransferase 1	B4GALNT1 GALGT SIAT2	3	0	Charcot-Marie-Tooth disease type 5 Henoch-Schoenlein purpura MASA syndrome Mast syndrome Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Richter's syndrome SPOAN syndrome Troyer syndrome alternating hemiplegia of childhood androgen insensitivity syndrome autonomic neuropathy breast cancer breast carcinoma cancer cataract central nervous system disease chromophobe renal cell carcinoma chronic lymphocytic leukemia clear cell renal cell carcinoma collecting duct carcinoma coronary artery disease diabetic ketoacidosis dystonia embryoma eunuchism gastrointestinal system cancer giant cell glioblastoma glioblastoma hepatocellular carcinoma 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 high grade glioma hypersensitivity vasculitis hypogonadism intellectual disability intestinal benign neoplasm intestinal cancer learning disability lingual-facial-buccal dyskinesia liver cancer melanoma nervous system disease neuroblastoma nonpapillary renal cell carcinoma obsolete type 1 diabetes mellitus 9 ovarian cancer ovarian carcinoma papillary renal cell carcinoma paraplegia premature menopause pseudobulbar palsy renal carcinoma renal cell carcinoma sarcomatoid renal cell carcinoma scoliosis skin melanoma 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
Q13613	Myotubularin-related protein 1	MTMR1	2	2	Charcot-Marie-Tooth disease type 4B1 centronuclear myopathy X-linked centronuclear myopathy congenital structural myopathy myotonic dystrophy type 1 myotonic dystrophy type 2
P55084	Trifunctional enzyme subunit beta, mitochondrial	HADHB	0	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 Norum disease Tangier disease X-linked dilated cardiomyopathy abetalipoproteinemia adrenoleukodystrophy agenesis of the corpus callosum with peripheral neuropathy agnosia beta-ketothiolase deficiency breast cancer breast carcinoma cancer cardiomyopathy cardiovascular system disease cholestasis choreaacanthocytosis clubfoot colorectal cancer colorectal carcinoma cone-rod dystrophy congestive heart failure critical illness polyneuropathy developmental coordination disorder dilated cardiomyopathy 1AA dilated cardiomyopathy 1B dilated cardiomyopathy 1BB dilated cardiomyopathy 1C dilated cardiomyopathy 1CC dilated cardiomyopathy 1D dilated cardiomyopathy 1DD dilated cardiomyopathy 1E dilated cardiomyopathy 1EE dilated cardiomyopathy 1FF dilated cardiomyopathy 1G dilated cardiomyopathy 1GG dilated cardiomyopathy 1H dilated cardiomyopathy 1HH dilated cardiomyopathy 1I dilated cardiomyopathy 1II dilated cardiomyopathy 1JJ dilated cardiomyopathy 1K dilated cardiomyopathy 1KK dilated cardiomyopathy 1L dilated cardiomyopathy 1M dilated cardiomyopathy 1NN dilated cardiomyopathy 1O dilated cardiomyopathy 1P dilated cardiomyopathy 1Q dilated cardiomyopathy 1R dilated cardiomyopathy 1S dilated cardiomyopathy 1T dilated cardiomyopathy 1U dilated cardiomyopathy 1V dilated cardiomyopathy 1W dilated cardiomyopathy 1X dilated cardiomyopathy 1Y dilated cardiomyopathy 1Z dilated cardiomyopathy 2A dilated cardiomyopathy 2B dilated cardiomyopathy embryoma endomyocardial fibrosis epilepsy familial hyperlipidemia familial periodic paralysis fibromyalgia fundus albipunctatus heart disease hereditary neuropathy with liability to pressure palsies hereditary sensory and autonomic neuropathy type 2 hypercalcemia hypertrophic cardiomyopathy hypolipoproteinemia hypoparathyroidism inflammatory and toxic neuropathy intellectual disability lactic acidosis large intestine cancer learning disability melanoma meningoencephalitis mitochondrial trifunctional protein deficiency mitral valve insufficiency mitral valve prolapse motor peripheral neuropathy myoglobinuria myopathy myositis nephrocalcinosis neuropathy obsolete hereditary motor and sensory neuropathy with agenesis of the corpus callosum peripheral nervous system disease phosphorus metabolism disease placental insufficiency polydactyly polyneuropathy prostate adenocarcinoma prostate cancer prostate carcinoma prostatitis pseudohypoparathyroidism pseudosarcomatous fibromatosis retinitis pigmentosa sick sinus syndrome skin melanoma steatotic liver disease tricuspid valve insufficiency urea cycle disorder visual epilepsy
P27824	Calnexin	CANX	11	5	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 Lyme disease MASA syndrome Marfan syndrome Zollinger-Ellison syndrome abdominal obesity-metabolic syndrome 1 absence epilepsy acute myocardial infarction adult medulloblastoma agenesis of the corpus callosum with peripheral neuropathy arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease atherosclerosis bone osteosarcoma breast adenocarcinoma breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer central nervous system lymphoma cervical squamous cell carcinoma cervix uteri carcinoma in situ childhood absence epilepsy childhood medulloblastoma childhood osteosarcoma cone-rod dystrophy coronary artery disease coronary thrombosis diabetes mellitus diabetic angiopathy diabetic ketoacidosis embryoma exanthema subitum fundus albipunctatus giant cell glioblastoma glioblastoma head and neck squamous cell carcinoma hepatocellular carcinoma hereditary neuropathy with liability to pressure palsies hereditary sensory and autonomic neuropathy type 2 high grade glioma hyperinsulinism interstitial lung disease keratosis follicularis liver cancer lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lymphoma measles medulloblastoma medullomyoblastoma melanoma melanotic medulloblastoma mongolian spot monoclonal gammopathy of uncertain significance motor peripheral neuropathy mucopolysaccharidosis II mucopolysaccharidosis III mucopolysaccharidosis IV mucopolysaccharidosis VI mucopolysaccharidosis multiple myeloma multiple sclerosis myocardial infarction nephrogenic diabetes insipidus neuropathy nodular prostate obsolete hereditary motor and sensory neuropathy with agenesis of the corpus callosum oculocutaneous albinism type IA oculocutaneous albinism osteosarcoma peripheral nervous system disease platelet-type bleeding disorder 11 platelet-type bleeding disorder 3 platelet-type bleeding disorder 8 platelet-type bleeding disorder 9 polyneuropathy post-traumatic stress disorder progressive muscular atrophy prostate cancer prostate carcinoma prostatic adenoma pseudoachondroplasia pseudoxanthoma elasticum renal tubular acidosis retinitis pigmentosa rubella silent myocardial infarction situs inversus skin melanoma spinal muscular atrophy stomach cancer stomach carcinoma tuberous sclerosis 1 tuberous sclerosis type 2 diabetes mellitus vitiligo von Willebrand's disease
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
Q92562	Polyphosphoinositide phosphatase	FIG4 KIAA0274 SAC3	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 3 Charcot-Marie-Tooth disease type 4 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 Joubert syndrome Laron syndrome Marfan syndrome Miller-Dieker lissencephaly syndrome Papillon-Lefevre disease Yunis-Varon syndrome achondroplasia agenesis of the corpus callosum with peripheral neuropathy amyotrophic lateral sclerosis type 11 amyotrophic lateral sclerosis type 1 amyotrophic lateral sclerosis type 2 amyotrophic lateral sclerosis type 4 amyotrophic lateral sclerosis anterior horn cell disease anxiety disorder 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 autosomal recessive distal hereditary motor neuronopathy 1 breast cancer breast carcinoma cardiomyopathy cataract communicating hydrocephalus complex cortical dysplasia with other brain malformations 1 complex cortical dysplasia with other brain malformations 7 cortical dysplasia-focal epilepsy syndrome cryptorchidism demyelinating disease demyelinating polyneuropathy depressive disorder distal arthrogryposis dysthymic disorder endomyocardial fibrosis enophthalmos epilepsy essential hypertension generalized anxiety disorder gingival recession gliosarcoma hereditary neuropathy with liability to pressure palsies hereditary sensory and autonomic neuropathy type 1 hereditary sensory and autonomic neuropathy type 2 hereditary spastic paraplegia 7 high grade glioma holoprosencephaly 1 holoprosencephaly hydranencephaly hydrocephalus hypertension hypertrophic cardiomyopathy hypospadias laryngostenosis lateral sclerosis lissencephaly lysosomal storage disease major depressive disorder melancholic depression microcephaly mixed glioma motor neuron disease motor peripheral neuropathy neuroblastoma neurodegenerative disease neuropathy neurotic disorder obsolete exophthalmos obsolete hereditary motor and sensory neuropathy with agenesis of the corpus callosum obsolete melancholia obstructive hydrocephalus orbital disease patent foramen ovale peripheral nervous system disease placental insufficiency polyhydramnios polyneuropathy pontocerebellar hypoplasia type 2D pontocerebellar hypoplasia type 7 pontocerebellar hypoplasia type 8 pontocerebellar hypoplasia type 9 primary pulmonary hypertension progressive muscular atrophy pyloric stenosis renal artery obstruction renovascular hypertension sclerocornea senile degeneration of brain sensorineural hearing loss septooptic dysplasia short-rib thoracic dysplasia 14 with polydactyly situs inversus status epilepticus subacute delirium syndactyly syndromic X-linked intellectual disability Najm type tetralogy of Fallot tuberous sclerosis ventricular septal defect
P23786	Carnitine O-palmitoyltransferase 2, mitochondrial	CPT2 CPT1	0	1	Chanarin-Dorfman syndrome Meckel syndrome Pearson syndrome Reye syndrome X-linked dilated cardiomyopathy abdominal obesity-metabolic syndrome 1 acute myocardial infarction arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease arthritis arthropathy atherosclerosis attention deficit hyperactivity disorder autosomal dominant polycystic kidney disease beta thalassemia brain disease brain edema breast cancer breast carcinoma cancer carcinoma cardiomyopathy carnitine palmitoyltransferase I deficiency carnitine palmitoyltransferase II deficiency cataract chronic fatigue syndrome chronic kidney disease clubfoot colorectal cancer colorectal carcinoma congestive heart failure coronary artery disease coronary thrombosis 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 encephalitis encephalomyelitis endomyocardial fibrosis epilepsy essential thrombocythemia familial hyperlipidemia familial periodic paralysis fibromyalgia glycogen storage disease II glycogen storage disease V hepatitis C hepatitis hepatocellular carcinoma hydrocephalus hydronephrosis hyperglycemia hypertrophic cardiomyopathy hypoglycemia influenza isolated elevated serum creatine phosphokinase levels kidney failure large intestine cancer liver cancer liver cirrhosis medium chain acyl-CoA dehydrogenase deficiency microcephaly mitochondrial metabolism disease mitochondrial myopathy mitochondrial trifunctional protein deficiency multiple acyl-CoA dehydrogenase deficiency myelitis myelodysplastic syndrome myocardial infarction myoglobinuria myopathy myositis neurogenic arthropathy neuroleptic malignant syndrome obesity ovarian cancer pancytopenia placental insufficiency polycystic ovary syndrome primary pulmonary hypertension prostate cancer prostate carcinoma pseudosarcomatous fibromatosis psoriatic arthritis sarcomatoid carcinoma sick sinus syndrome silent myocardial infarction status epilepticus steatotic liver disease systemic primary carnitine deficiency disease thalassemia type 2 diabetes mellitus urea cycle disorder very long chain acyl-CoA dehydrogenase deficiency viral infectious disease visual epilepsy
P49247	Ribose-5-phosphate isomerase	RPIA RPI	2	1	Chagas disease agnosia cancer colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma congenital nystagmus critical illness polyneuropathy disease of metabolism dissociated nystagmus epilepsy familial adenomatous polyposis 1 familial adenomatous polyposis hepatocellular carcinoma inflammatory and toxic neuropathy islet cell tumor large intestine cancer liver cancer liver carcinoma meningoencephalitis multiple myeloma neuropathy optic atrophy papillary adenocarcinoma papillary renal cell carcinoma pathologic nystagmus peripheral nervous system disease polyneuropathy spontaneous ocular nystagmus thyroid adenoma thyroid cancer thyroid gland carcinoma thyroid gland medullary carcinoma thyroid gland papillary carcinoma trypanosomiasis visual epilepsy
P31431	Syndecan-4	SDC4	9	2	Chagas disease Sezary's disease actinic keratosis acute interstitial pneumonia acute myeloid leukemia acute myocardial infarction allergic asthma anaplastic astrocytoma aortic valve disease 2 aortic valve stenosis arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease arthritis arthropathy asthma atherosclerosis autism spectrum disorder autistic disorder bacterial infectious disease bone osteosarcoma breast cancer breast carcinoma cancer cataract 32 multiple types cerebral infarction cerebrovascular disease childhood cerebral astrocytoma childhood osteosarcoma chronic obstructive pulmonary disease colitis colon cancer colon carcinoma colonic benign neoplasm colorectal cancer congestive heart failure coronary artery disease coronary thrombosis diabetes mellitus diabetic ketoacidosis dilated cardiomyopathy 1A dilated cardiomyopathy embryoma endometriosis of uterus endometriosis fibrillary astrocytoma fibrodysplasia ossificans progressiva gastroenteritis gemistocytic astrocytoma glomerulonephritis hepatitis C high grade glioma hyperglycemia idiopathic interstitial pneumonia idiopathic pulmonary fibrosis ileitis ileocolitis intrinsic asthma juvenile pilocytic astrocytoma kidney disease large intestine cancer leprosy liver cirrhosis lung cancer lung non-small cell carcinoma malignant astrocytoma melanoma myocardial infarction myositis ossificans nephritis nephrosis osteoarthritis osteosarcoma papillary adenocarcinoma papillary renal cell carcinoma pilocytic astrocytoma pneumonia postinflammatory pulmonary fibrosis primary cutaneous T-cell non-Hodgkin lymphoma protoplasmic astrocytoma pulmonary fibrosis pyoureter rheumatoid arthritis seborrheic keratosis silent myocardial infarction skin disease skin melanoma subependymal giant cell astrocytoma synovitis tenosynovitis thyroid adenoma thyroid cancer thyroid gland carcinoma thyroid gland papillary carcinoma trypanosomiasis type 2 diabetes mellitus ureteral obstruction
Q9BW60	Very long chain fatty acid elongase 1	ELOVL1 SSC1	0	1	Cauda equina syndrome acanthosis nigricans acrodermatitis adrenoleukodystrophy cancer dermatitis dry eye syndrome hyperglycemia neurogenic bladder obsolete asthenopia xerophthalmia
P83436	Conserved oligomeric Golgi complex subunit 7	COG7	1	1	Cauda equina syndrome Laron syndrome achondroplasia autosomal recessive congenital ichthyosis 10 autosomal recessive congenital ichthyosis 1 autosomal recessive congenital ichthyosis 2 autosomal recessive congenital ichthyosis 3 autosomal recessive congenital ichthyosis 4A autosomal recessive congenital ichthyosis 5 autosomal recessive congenital ichthyosis 6 autosomal recessive congenital ichthyosis 7 autosomal recessive congenital ichthyosis 8 autosomal recessive congenital ichthyosis 9 autosomal recessive congenital ichthyosis cardiomyopathy cerebral degeneration congenital disorder of glycosylation type II congenital disorder of glycosylation type IIe congenital disorder of glycosylation congenital heart disease congestive heart failure endomyocardial fibrosis esophagitis familial hypertrophic cardiomyopathy gastroesophageal reflux disease hydronephrosis hypertrichosis hypertrophic cardiomyopathy hypoglycemia isolated elevated serum creatine phosphokinase levels microcephaly neurogenic bladder obsolete congenital ichthyosiform erythroderma peptic esophagitis placental insufficiency sensorineural hearing loss
O95822	Malonyl-CoA decarboxylase, mitochondrial	MLYCD	1	1	Castleman disease Kaposi's sarcoma Kimura disease Laron syndrome Marfan syndrome Meesmann corneal dystrophy Schmid metaphyseal chondrodysplasia Senior-Loken syndrome achondroplasia acquired immunodeficiency syndrome acute kidney tubular necrosis adult lymphoma autoimmune lymphoproliferative syndrome type 2A autoimmune lymphoproliferative syndrome type 2B autoimmune lymphoproliferative syndrome type 3 autoimmune lymphoproliferative syndrome cancer cardiomyopathy central nervous system lymphoma childhood lymphoma choline deficiency disease diabetes mellitus diarrhea endomyocardial fibrosis epilepsy essential hypertension familial hypertrophic cardiomyopathy familial nephrotic syndrome focal segmental glomerulosclerosis glomerulonephritis human immunodeficiency virus infectious disease hypertension hypertrophic cardiomyopathy hypoglycemia inherited metabolic disorder kidney disease lactic acidosis lipoid nephrosis liver cirrhosis lymphoma lymphoproliferative syndrome 1 lymphoproliferative syndrome 2 macular corneal dystrophy membranous glomerulonephritis microphthalmia multicentric Castleman disease nasopharynx carcinoma nephritis nephronophthisis 1 nephronophthisis nephrosclerosis nephrosis nephrotic syndrome normal pressure hydrocephalus obesity obsolete Matthew-Wood syndrome obsolete constipation obsolete ymphosarcoma oral tuberculosis primary immunodeficiency disease pyoureter situs inversus steatotic liver disease systemic Epstein-Barr virus positive T-cell lymphoma of childhood tuberculosis tuberous sclerosis 1 tuberous sclerosis type 2 diabetes mellitus visual epilepsy
P24557	Thromboxane-A synthase	TBXAS1 CYP5 CYP5A1 TXAS	0	1	Camurati-Engelmann disease acute myocardial infarction alcoholic hepatitis alcoholic liver cirrhosis allergic asthma anemia arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease asthma ataxia telangiectasia atherosclerosis autosomal recessive osteopetrosis 7 benign mesothelioma brain infarction brain stem infarction breast cancer breast carcinoma cardiovascular system disease cerebral artery occlusion cerebral infarction cerebrovascular disease coronary artery disease coronary thrombosis essential hypertension glomerulonephritis heart disease hydronephrosis hypertension inflammatory bowel disease 1 inflammatory bowel disease intrinsic asthma kidney disease liver cirrhosis lung benign neoplasm macrocytic anemia malignant mesothelioma malignant pleural mesothelioma membranous glomerulonephritis myelofibrosis myocardial infarction nephritis osteopetrosis osteosclerosis pancytopenia pituitary adenoma pituitary cancer pituitary carcinoma platelet-type bleeding disorder 14 prostate cancer prostate carcinoma pulmonary embolism schizophrenia silent myocardial infarction speech disorder thrombocytopenia thrombosis ulcerative colitis urinary bladder cancer
Q9HC07	Putative divalent cation/proton antiporter TMEM165	TMEM165 TPARL	4	3	Camurati-Engelmann disease Laron syndrome Marfan syndrome X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 achondroplasia acoustic neuroma amelogenesis imperfecta hypomaturation type 2A2 amelogenesis imperfecta hypomaturation type 2A3 amelogenesis imperfecta hypomaturation type 2A4 amelogenesis imperfecta hypomaturation type 2A5 amelogenesis imperfecta type 1A amelogenesis imperfecta type 1B amelogenesis imperfecta type 1C amelogenesis imperfecta type 1E amelogenesis imperfecta type 1F amelogenesis imperfecta type 1G amelogenesis imperfecta type 1H amelogenesis imperfecta type 2A1 amelogenesis imperfecta type 3A amelogenesis imperfecta type 4 amelogenesis imperfecta cancer cellular schwannoma chondrodysplasia punctata congenital disorder of glycosylation type II congenital disorder of glycosylation type IIk congenital disorder of glycosylation dentin dysplasia dentinogenesis imperfecta embryoma hepatocellular carcinoma isolated elevated serum creatine phosphokinase levels liver cancer melanotic neurilemmoma meningioma neurilemmoma neurofibromatosis osteoporosis pituitary adenoma plexiform schwannoma scoliosis situs inversus tuberous sclerosis vestibular schwannomatosis
P16444	Dipeptidase 1	DPEP1 MDP RDP	6	142	Camurati-Engelmann disease Crohn's colitis Crohn's disease Duchenne muscular dystrophy Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease SAPHO syndrome X-linked lymphoproliferative syndrome 2 adenoma amyloidosis ankylosing spondylitis arthritis arthropathy autosomal dominant Emery-Dreifuss muscular dystrophy 2 autosomal dominant limb-girdle muscular dystrophy type 1 autosomal dominant limb-girdle muscular dystrophy type 1H autosomal dominant limb-girdle muscular dystrophy type 2 autosomal dominant limb-girdle muscular dystrophy type 3 autosomal dominant limb-girdle muscular dystrophy autosomal recessive limb-girdle muscular dystrophy type 2A autosomal recessive limb-girdle muscular dystrophy type 2B autosomal recessive limb-girdle muscular dystrophy type 2C autosomal recessive limb-girdle muscular dystrophy type 2D autosomal recessive limb-girdle muscular dystrophy type 2E autosomal recessive limb-girdle muscular dystrophy type 2F autosomal recessive limb-girdle muscular dystrophy type 2G autosomal recessive limb-girdle muscular dystrophy type 2H autosomal recessive limb-girdle muscular dystrophy type 2I autosomal recessive limb-girdle muscular dystrophy type 2J autosomal recessive limb-girdle muscular dystrophy type 2K autosomal recessive limb-girdle muscular dystrophy type 2L autosomal recessive limb-girdle muscular dystrophy type 2M autosomal recessive limb-girdle muscular dystrophy type 2N autosomal recessive limb-girdle muscular dystrophy type 2O autosomal recessive limb-girdle muscular dystrophy type 2P autosomal recessive limb-girdle muscular dystrophy type 2Q autosomal recessive limb-girdle muscular dystrophy type 2S autosomal recessive limb-girdle muscular dystrophy type 2T autosomal recessive limb-girdle muscular dystrophy type 2U autosomal recessive limb-girdle muscular dystrophy type 2Y autosomal recessive limb-girdle muscular dystrophy bladder calculus bone cancer bone osteosarcoma breast cancer breast carcinoma cancer cardiovascular system disease central nervous system cancer childhood osteosarcoma cholecystolithiasis choledocholithiasis cholelithiasis chronic kidney disease colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma congenital muscular dystrophy distal myopathy dystonia embryoma epithelioid leiomyosarcoma essential hypertension facioscapulohumeral muscular dystrophy familial adenomatous polyposis 1 familial adenomatous polyposis familial hemiplegic migraine 2 familial hemiplegic migraine fibrodysplasia ossificans progressiva focal hand dystonia follicular adenoma generalized dystonia gliosarcoma heart disease hepatoblastoma hepatocellular carcinoma high grade glioma hypertension hyperuricemia inflammatory bowel disease 1 inflammatory bowel disease influenza interstitial nephritis invasive ductal carcinoma large intestine cancer laryngeal disease leiomyosarcoma lepromatous leprosy limb-girdle muscular dystrophy metachondromatosis microcystic adenoma microphthalmia mixed glioma mucopolysaccharidosis II mucopolysaccharidosis III mucopolysaccharidosis IV mucopolysaccharidosis VI mucopolysaccharidosis muscular dystrophy myofibrillar myopathy 1 myofibrillar myopathy 3 myositis ossificans myxoid leiomyosarcoma neuroendocrine carcinoma obsolete Matthew-Wood syndrome obsolete autosomal dominant limb-girdle muscular dystrophy type 1A obsolete autosomal dominant limb-girdle muscular dystrophy type 1B obsolete autosomal dominant limb-girdle muscular dystrophy type 1C obsolete autosomal recessive limb-girdle muscular dystrophy type 2R oculopharyngeal muscular dystrophy osteoarthritis osteoporosis osteosarcoma pancreatic adenocarcinoma pancreatic cancer pancreatic carcinoma pancreatic ductal adenocarcinoma papillary adenoma periostitis peritoneal carcinoma proliferative diabetic retinopathy prostate cancer prostate carcinoma pulmonary embolism pyelitis pyelonephritis rheumatoid arthritis rippling muscle disease 2 secondary Parkinson disease secondary hypertrophic osteoarthropathy severe nonproliferative diabetic retinopathy stone in bladder diverticulum thyroid adenoma thyroid cancer thyroid gland carcinoma thyroid gland follicular carcinoma tracheal disease ulcerative colitis

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