GlyCosmos Portal

Homo sapiens (human)

Summary

Taxonomy ID: 9606
PubChem Taxonomy: 9606

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

Displaying entries **876 - 900** of **1582** in total

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Gene ID	Gene Name	Gene Symbol	Disease Ontology ▼
8525	diacylglycerol kinase zeta	DGKZ DAGK5 DAGK6 DGK-ZETA hDGKzeta	Clouston syndrome acute myocardial infarction adenocarcinoma adenoma adult lymphoma aplastic anemia bone osteosarcoma cancer colon cancer colon carcinoma colonic benign neoplasm colorectal cancer coronary thrombosis cribriform carcinoma diabetes mellitus embryoma giant cell glioblastoma glioblastoma granular cell carcinoma high grade glioma large intestine cancer myocardial infarction osteosarcoma pancytopenia prostate cancer prostate carcinoma pure red-cell aplasia schizophrenia silent myocardial infarction tubular adenocarcinoma type 2 diabetes mellitus
4668	alpha-N-acetylgalactosaminidase	NAGA D22S674 alpha-galactosidase B	Clouston syndrome Fabry disease Kanzaki disease Schindler disease type 1 Unverricht-Lundborg syndrome acquired hyperkeratosis alternating hemiplegia of childhood angiokeratoma autistic disorder autonomic neuropathy blepharospasm cancer cardiomyopathy cataract central nervous system disease central nervous system origin vertigo cerebral degeneration chylomicron retention disease congenital nystagmus dissociated nystagmus early myoclonic encephalopathy elephantiasis embryoma endomyocardial fibrosis epilepsy familial hypertrophic cardiomyopathy focal hand dystonia gallbladder disease hypertrophic cardiomyopathy hypertropia influenza intellectual disability learning disability lipid storage disease liver disease lymphedema mechanical strabismus nervous system disease neuroaxonal dystrophy neurodegeneration with brain iron accumulation 2a neuropathy ophthalmoplegia optic atrophy pathologic nystagmus peripheral nervous system disease sensorineural hearing loss spontaneous ocular nystagmus strabismus syndromic X-linked intellectual disability 94 trichomoniasis visual epilepsy
152831	klotho beta	KLB b-Klotho	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 disease 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
2923	protein disulfide isomerase family A member 3	PDIA3 ERp57 ERp60 ERp61 GRP57 HsT17083 P58 PI-PLC	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
2219	ficolin 1	FCN1 FCNM	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
2760	ganglioside GM2 activator	GM2A GM2-AP GM2-activator protein GM2AP SAP-3 cerebroside sulfate activator protein sphingolipid activator protein 3	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
175	aspartylglucosaminidase	AGA ASRG N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase glycosylasparaginase	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
1113	chromogranin A	CHGA PHE5 PHES pancreastatin parastatin parathyroid secretory protein 1 vasostatin	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 end stage renal disease 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
55907	cytidine monophosphate N-acetylneuraminic acid synthetase	CMAS CMP-Neu5Ac synthetase N-acylneuraminate cytidylyltransferase	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 focal segmental glomerulosclerosis 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
8794	TNF receptor superfamily member 10c	TNFRSF10C CD263 DcR1 LIT TRAILR3 TRID	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 colon cancer 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 osteoarthritis 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
9107	myotubularin related protein 6	MTMR6	Charcot-Marie-Tooth disease cancer centronuclear myopathy X-linked centronuclear myopathy
55613	myotubularin related protein 8	MTMR8 FLJ20126	Charcot-Marie-Tooth disease breast cancer centronuclear myopathy X-linked centronuclear myopathy
9110	myotubularin related protein 4	MTMR4 KIAA0647 ZFYVE11	Charcot-Marie-Tooth disease anterior horn cell disease benign mesothelioma centronuclear myopathy X-linked herpes simplex malignant mesothelioma muscular atrophy
8897	myotubularin related protein 3	MTMR3 FYVE-DSP1 KIAA0371 ZFYVE10	Charcot-Marie-Tooth disease Crohn's colitis Crohn's disease IgA glomerulonephritis acute myeloid leukemia breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer central nervous system cancer centronuclear myopathy X-linked cleft lip cleft palate colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma dental caries dentin caries diabetes mellitus embryoma gliosarcoma herpes simplex high grade glioma inflammatory bowel disease 1 inflammatory bowel disease isolated cleft palate large intestine cancer lung benign neoplasm lung cancer lung carcinoma mixed glioma rheumatoid arthritis stomach cancer stomach carcinoma systemic lupus erythematosus type 2 diabetes mellitus ulcerative colitis
9108	myotubularin related protein 7	MTMR7	Charcot-Marie-Tooth disease Creutzfeldt-Jakob disease cancer centronuclear myopathy X-linked centronuclear myopathy colorectal cancer colorectal carcinoma embryoma large intestine cancer
84188	fatty acyl-CoA reductase 1	FAR1 FLJ22728 SDR10E1 short chain dehydrogenase/reductase family 10E, member 1	Charcot-Marie-Tooth disease type 5 MASA syndrome Mast syndrome SPOAN syndrome Troyer syndrome dermatitis 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 microcephaly rhizomelic chondrodysplasia punctata type 1 rhizomelic chondrodysplasia punctata rhizomelic chondrodysplasia punctate type 4
85465	selenoprotein I	SELENOI KIAA1724 SELI SEPI	Charcot-Marie-Tooth disease type 5 MASA syndrome Mast syndrome SPOAN syndrome Troyer syndrome cancer cleft palate coronary artery disease hepatoblastoma 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 81 hereditary spastic paraplegia 8 hereditary spastic paraplegia 9A hereditary spastic paraplegia 9B hereditary spastic paraplegia isolated cleft palate liver cancer microcephaly
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
51302	cytochrome P450 family 39 subfamily A member 1	CYP39A1	Charcot-Marie-Tooth disease type 5 MASA syndrome Mast syndrome SPOAN syndrome Troyer syndrome agranulocytosis gallbladder cancer gallbladder carcinoma 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 leukopenia liver cancer neutropenia prostate cancer prostate carcinoma severe congenital neutropenia
8869	ST3 beta-galactoside alpha-2,3-sialyltransferase 5	ST3GAL5 SIATGM3S ST3GalV ganglioside GM3 synthase lactosylceramide alpha-2,3-sialyltransferase	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
2583	beta-1,4-N-acetyl-galactosaminyltransferase 1	B4GALNT1 GD2 synthase, GM2 synthase beta1-4GalNAc-T	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
57704	glucosylceramidase beta 2	GBA2 AD035 DKFZp762K054 KIAA1605 bile acid beta-glucosidase glucocerebrosidase 2 non-lysosomal glucosylceramidase	Charcot-Marie-Tooth disease type 5 Gaucher's disease Henoch-Schoenlein purpura Huntington's disease-like 1 Huntington's disease-like 2 Huntington's disease MASA syndrome Mast syndrome Niemann-Pick disease type C1 Niemann-Pick disease Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease SPOAN syndrome Troyer syndrome alternating hemiplegia of childhood autonomic neuropathy cancer cataract central nervous system disease cerebellar ataxia cerebellar disease cerebral degeneration congenital nystagmus cystic fibrosis dementia dissociated nystagmus glaucoma 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 hypersensitivity vasculitis infertility intellectual disability learning disability male infertility nervous system disease paraplegia pathologic nystagmus scoliosis sensorineural hearing loss spontaneous ocular nystagmus trichohepatoenteric syndrome 1 trichohepatoenteric syndrome
113612	cytochrome P450 family 2 subfamily U member 1	CYP2U1 SPG49 spastic paraplegia 49	Charcot-Marie-Tooth disease type 5 GM1 gangliosidosis type 1 GM1 gangliosidosis Henoch-Schoenlein purpura MASA syndrome Mast syndrome SPOAN syndrome Troyer syndrome agnosia blindness breast cancer breast carcinoma cancer developmental coordination disorder dystonia embryoma focal hand dystonia generalized dystonia 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 hypersensitivity vasculitis intellectual disability learning disability neurodegenerative disease neuropathy paraplegia peripheral nervous system disease polyneuropathy syringomyelia
8776	myotubularin related protein 1	MTMR1	Charcot-Marie-Tooth disease type 4B1 Charcot-Marie-Tooth disease centronuclear myopathy X-linked centronuclear myopathy congenital structural myopathy myopathy myotonic dystrophy type 1 myotonic dystrophy type 2
84649	diacylglycerol O-acyltransferase 2	DGAT2	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 agenesis of the corpus callosum with peripheral neuropathy androgen insensitivity syndrome cancer cholestasis chronic kidney disease generalized atherosclerosis hepatitis B hepatitis C hepatocellular carcinoma hereditary neuropathy with liability to pressure palsies hereditary sensory and autonomic neuropathy type 2 liver cancer metabolic dysfunction-associated steatotic liver disease motor peripheral neuropathy neuropathy obesity obsolete hereditary motor and sensory neuropathy with agenesis of the corpus callosum peripheral nervous system disease polyneuropathy premature menopause prostate cancer prostate carcinoma steatotic liver disease

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