GlyCosmos Portal

Homo sapiens (human)

Summary

Taxonomy ID: 9606
PubChem Taxonomy: 9606

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

Displaying entries **601 - 625** of **1582** in total

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Gene ID	Gene Name ▲	Gene Symbol	Disease Ontology
1594	cytochrome P450 family 27 subfamily B member 1	CYP27B1 1alpha(OH)ase 25-Hydroxyvitamin D3 1alpha-hydroxylase CYP1 Calcidiol 1-monooxygenase P450c1 VDDR I	Addison's disease B-cell lymphoma Behcet's disease Crohn's colitis Crohn's disease Ehlers-Danlos syndrome Graves' disease Langerhans-cell histiocytosis Laron syndrome Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Wilson disease X-linked dominant hypophosphatemic rickets achondroplasia acquired immunodeficiency syndrome acute kidney failure adenocarcinoma adenoma adenosarcoma adrenal cortical hypofunction agnosia allergic asthma alopecia androgenic alopecia arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease asthma atherosclerosis atopic dermatitis autoimmune disease autoimmune lymphoproliferative syndrome autoimmune thyroiditis bacterial infectious disease basal cell carcinoma bile duct adenocarcinoma bile duct carcinoma bladder carcinoma bone osteosarcoma breast cancer breast carcinoma bronchus cancer bronchus carcinoma calcinosis calcium metabolism disease cancer carcinoma cardiomyopathy central nervous system cancer cerebrotendinous xanthomatosis childhood osteosarcoma cholangiocarcinoma chromophobe renal cell carcinoma chronic fatigue syndrome chronic granulomatous disease chronic kidney disease ciliary body disease clear cell renal cell carcinoma colitis collecting duct carcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma complement deficiency congestive heart failure coronary artery disease cribriform carcinoma dental enamel hypoplasia dermatitis developmental coordination disorder diabetes mellitus diabetic ketoacidosis diastolic heart failure differentiated thyroid gland carcinoma dysgerminoma dysplastic nevus syndrome embryoma encephalitis encephalomyelitis endomyocardial fibrosis essential hypertension exanthem gastroenteritis gestational diabetes giant cell glioblastoma glioblastoma gliosarcoma glomerulonephritis granular cell carcinoma hemochromatosis hepatitis B hepatitis C hepatocellular carcinoma high grade glioma human immunodeficiency virus infectious disease hypercalcemia hyperphosphatemia hypertension hyperthyroidism hypertrophic cardiomyopathy hypoparathyroidism hypophosphatemia hypospadias idiopathic interstitial pneumonia ileitis ileocolitis immune system disease inflammatory bowel disease 1 inflammatory bowel disease intrahepatic cholangiocarcinoma intrinsic asthma iris disease iron metabolism disease kidney disease lactic acidosis large intestine cancer liver cancer liver cirrhosis lung benign neoplasm lung cancer lung carcinoma lung disease lung non-small cell carcinoma lymphoma melanoma mixed glioma multiple sclerosis myelitis nephritis nephroblastoma nephrocalcinosis nephrosis neuromyelitis optica non-Hodgkin lymphoma nonpapillary renal cell carcinoma obesity obsolete type 1 diabetes mellitus 9 obsolete ymphosarcoma ocular melanoma osteochondrodysplasia osteogenesis imperfecta osteomalacia osteoporosis osteosarcoma ovarian cancer ovarian carcinoma panuveitis papillary adenocarcinoma papillary renal cell carcinoma parapsoriasis parathyroid adenoma parathyroid carcinoma phimosis phosphorus metabolism disease postinflammatory pulmonary fibrosis pre-eclampsia prostate cancer prostate carcinoma pseudohypoparathyroidism psoriasis psoriatic arthritis psychotic disorder pulmonary fibrosis pustulosis of palm and sole pyoureter renal carcinoma renal cell carcinoma reticulosarcoma retinoblastoma rickets sarcoidosis sarcomatoid carcinoma sarcomatoid renal cell carcinoma schizoaffective disorder schizophreniform disorder secondary hyperparathyroidism skin benign neoplasm skin cancer skin carcinoma skin melanoma squamous cell carcinoma steatotic liver disease thyroid adenoma thyroid cancer thyroid gland anaplastic carcinoma thyroid gland carcinoma thyroid gland follicular carcinoma thyroid gland papillary carcinoma thyrotoxicosis tongue squamous cell carcinoma tuberculosis tubular adenocarcinoma type 1 diabetes mellitus 10 type 1 diabetes mellitus 11 type 1 diabetes mellitus 12 type 1 diabetes mellitus 13 type 1 diabetes mellitus 15 type 1 diabetes mellitus 17 type 1 diabetes mellitus 18 type 1 diabetes mellitus 19 type 1 diabetes mellitus 20 type 1 diabetes mellitus 21 type 1 diabetes mellitus 22 type 1 diabetes mellitus 23 type 1 diabetes mellitus 24 type 1 diabetes mellitus 2 type 1 diabetes mellitus 3 type 1 diabetes mellitus 4 type 1 diabetes mellitus 5 type 1 diabetes mellitus 6 type 1 diabetes mellitus 7 type 1 diabetes mellitus 8 type 1 diabetes mellitus type 2 diabetes mellitus ulcerative colitis urinary bladder cancer uveitis uveoparotid fever vitamin D-dependent rickets type 1A
1576	cytochrome P450 family 3 subfamily A member 4	CYP3A4	Alzheimer's disease 10 Alzheimer's disease 11 Alzheimer's disease 12 Alzheimer's disease 13 Alzheimer's disease 14 Alzheimer's disease 15 Alzheimer's disease 1 Alzheimer's disease 2 Alzheimer's disease 5 Alzheimer's disease 6 Alzheimer's disease 7 Alzheimer's disease 8 Alzheimer's disease Balo concentric sclerosis Crohn's colitis Crohn's disease Hodgkin's granuloma Hodgkin's lymphoma, lymphocytic depletion Hodgkin's lymphoma, lymphocytic-histiocytic predominance Hodgkin's lymphoma, mixed cellularity Hodgkin's lymphoma Huntington's disease-like 1 Huntington's disease-like 2 Huntington's disease Leber congenital amaurosis 1 Pick's disease Reye syndrome Stevens-Johnson syndrome T-cell acute lymphoblastic leukemia abdominal obesity-metabolic syndrome 1 acquired immunodeficiency syndrome acute biphenotypic leukemia acute chest syndrome acute leukemia acute lymphoblastic leukemia acute monocytic leukemia acute myeloid leukemia acute myocardial infarction adrenal gland hyperfunction adrenoleukodystrophy adult acute lymphocytic leukemia agnosia alcohol use disorder allergic asthma arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease asthma atherosclerosis atrial fibrillation atrophic gastritis attention deficit hyperactivity disorder autoimmune hepatitis beta thalassemia biliary tract disease bladder carcinoma bone marrow cancer bone osteosarcoma brain stem infarction breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer cartilage-hair hypoplasia central nervous system disease central nervous system lymphoma cerebral artery occlusion cerebral degeneration cerebral infarction cerebral palsy cerebrotendinous xanthomatosis cerebrovascular disease childhood acute lymphocytic leukemia cholestasis chronic kidney disease chronic myeloid leukemia colon adenocarcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer congestive heart failure coronary artery disease coronary thrombosis cystic fibrosis depressive disorder diabetes mellitus diabetic ketoacidosis diarrhea dysthymic disorder embryoma endometrial cancer endometrial carcinoma endometriosis of uterus endometriosis epilepsy esophagus squamous cell carcinoma essential hypertension familial adenomatous polyposis familial mediterranean fever familial nephrotic syndrome familial periodic paralysis gallbladder disease gastrointestinal system cancer gynecomastia hemiplegia hepatitis B hepatitis C hepatitis hepatoblastoma hepatocellular carcinoma human immunodeficiency virus infectious disease hypertension hypertrophy of breast infant gynecomastia inflammatory bowel disease 1 inflammatory bowel disease intrinsic asthma islet cell tumor isolated growth hormone deficiency kidney cancer kidney failure large intestine cancer laryngeal squamous cell carcinoma leukopenia lingual-facial-buccal dyskinesia lipoid nephrosis liver cancer liver cirrhosis liver disease lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma lymphoma major depressive disorder malaria melancholic depression multiple myeloma multiple sclerosis myeloproliferative neoplasm myocardial infarction myopathy narcolepsy nephrosclerosis nephrotic syndrome nervous system disease neuroblastoma neuropathy neurotic disorder nodular prostate obesity obsolete Cushing's syndrome obsolete melancholia obsolete ymphosarcoma obstructive jaundice osteomalacia osteoporosis osteosarcoma ovarian cancer ovarian carcinoma pancreatic cancer pancreatic carcinoma parapsoriasis peripheral T-cell lymphoma peripheral nervous system disease primary biliary cholangitis primary hyperaldosteronism prostate cancer prostate carcinoma prostatic adenoma psoriasis pustulosis of palm and sole rabies renal hypertension rheumatoid arthritis rickets sarcoma schizophrenia secondary hyperparathyroidism silent myocardial infarction spastic diplegia spastic monoplegia spastic quadriplegic cerebral palsy steatotic liver disease stomach cancer stomach carcinoma thalassemia thrombocytopenia thyroid adenoma thyroid cancer thyroid gland carcinoma tuberculosis type 2 diabetes mellitus ulcerative colitis uremia urinary bladder cancer uterine corpus cancer visual epilepsy
1577	cytochrome P450 family 3 subfamily A member 5	CYP3A5 CP35 P450PCN3 PCN3	B-lymphoblastic leukemia/lymphoma Balkan nephropathy Cockayne syndrome Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease T-cell acute lymphoblastic leukemia abdominal obesity-metabolic syndrome 1 acute biphenotypic leukemia acute chest syndrome acute intermittent porphyria acute leukemia acute lymphoblastic leukemia adenocarcinoma adenoma adult acute lymphocytic leukemia adult medulloblastoma adult respiratory distress syndrome agnosia agranulocytosis alcohol dependence alcohol use disorder allergic asthma ankylosing spondylitis anxiety disorder arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease asthma atherosclerosis atrial fibrillation atypical chronic myeloid leukemia, BCR-ABL1 negative autoimmune disease autoimmune lymphoproliferative syndrome bladder carcinoma bone disease brain stem infarction breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer carcinoma cardiovascular system disease cartilage disease central nervous system origin vertigo central sleep apnea cerebral artery occlusion cerebral infarction cerebrovascular disease childhood acute lymphocytic leukemia childhood leukemia childhood medulloblastoma cholestasis chromophobe renal cell carcinoma chronic kidney disease chronic monocytic leukemia chronic myeloid leukemia chronic obstructive pulmonary disease clear cell renal cell carcinoma clonorchiasis collagen disease collecting duct carcinoma colorectal cancer colorectal carcinoma congestive heart failure connective tissue disease coronary artery disease depressive disorder diabetes mellitus diabetic ketoacidosis disease of mental health embryoma end stage renal disease epilepsy esophageal cancer esophageal carcinoma esophagus squamous cell carcinoma essential hypertension essential thrombocythemia familial nephrotic syndrome familial periodic paralysis follicular adenoma gastrointestinal system cancer glomerulonephritis heart disease hepatitis C hepatocellular carcinoma hypertension immune system disease inflammatory bowel disease 1 inflammatory bowel disease intrinsic asthma kidney disease kidney failure large intestine cancer laryngeal squamous cell carcinoma leukemia leukopenia lingual-facial-buccal dyskinesia lipoid nephrosis liver cancer lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma lung small cell carcinoma lupus nephritis lymphoblastic lymphoma lymphoid leukemia medulloblastoma medullomyoblastoma melanotic medulloblastoma membranous glomerulonephritis microcystic adenoma microphthalmia myasthenia gravis myelodysplastic syndrome myeloid leukemia myopathy nephritis nephrolithiasis nephrosclerosis nephrosis nephrotic syndrome neuroblastoma neuropathy neutropenia newborn respiratory distress syndrome nicotine dependence nodular prostate nonpapillary renal cell carcinoma nutmeg liver obsolete Matthew-Wood syndrome oral submucous fibrosis ovarian cancer ovarian carcinoma pancreatic ductal adenocarcinoma papillary adenoma papillary renal cell carcinoma peripheral nervous system disease polyneuropathy pre-eclampsia prostate cancer prostate carcinoma prostatic adenoma psychotic disorder pyoureter renal carcinoma renal cell carcinoma renal hypertension rheumatoid arthritis sarcomatoid carcinoma sarcomatoid renal cell carcinoma schizophrenia seminoma severe congenital neutropenia squamous cell carcinoma subacute delirium systemic lupus erythematosus testicular cancer testicular malignant germ cell cancer testis seminoma thrombophilia thrombosis tongue squamous cell carcinoma toxic encephalopathy tuberculosis type 2 diabetes mellitus ulcerative colitis uric acid nephrolithiasis urinary bladder cancer
1551	cytochrome P450 family 3 subfamily A member 7	CYP3A7 CP37 P450-HFLA	adult respiratory distress syndrome allergic asthma asthma breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer carcinoma embryoma endometrial cancer endometrial carcinoma hepatocellular carcinoma intrinsic asthma liver cancer liver cirrhosis lung cancer lung carcinoma newborn respiratory distress syndrome sarcomatoid carcinoma seminoma testicular cancer testicular malignant germ cell cancer testis seminoma uterine corpus cancer
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
1579	cytochrome P450 family 4 subfamily A member 11	CYP4A11 CYP4AII	Meckel syndrome acute myocardial infarction alcoholic liver cirrhosis arteriosclerotic cardiovascular disease atherosclerosis autosomal dominant polycystic kidney disease autosomal recessive polycystic kidney disease brain stem infarction cancer cerebral artery occlusion cerebral infarction cerebrovascular disease coronary artery disease coronary thrombosis diabetes mellitus diabetic ketoacidosis embryoma essential hypertension hepatocellular carcinoma hypertension liver cancer liver cirrhosis myocardial infarction nephrosclerosis nutmeg liver renal artery disease renal hypertension silent myocardial infarction steatotic liver disease varicose veins
284541	cytochrome P450 family 4 subfamily A member 22	CYP4A22	autosomal recessive polycystic kidney disease hepatocellular carcinoma hypertension liver cancer polycystic kidney disease 4
8529	cytochrome P450 family 4 subfamily F member 2	CYP4F2	Crohn's colitis Crohn's disease abdominal obesity-metabolic syndrome 1 acute myocardial infarction adrenal carcinoma adrenal cortex cancer adrenocortical carcinoma adrenoleukodystrophy arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease atherosclerosis atrial fibrillation brain stem infarction cancer cardiovascular system disease cerebral artery occlusion cerebral infarction cerebrovascular disease coronary artery disease coronary thrombosis embryoma essential hypertension heart disease hepatocellular carcinoma hypertension inflammatory bowel disease 1 inflammatory bowel disease liver cancer myocardial infarction nutmeg liver obesity pancreatic ductal adenocarcinoma patent ductus arteriosus silent myocardial infarction steatotic liver disease thrombophilia ulcerative colitis varicose veins vascular disease
4051	cytochrome P450 family 4 subfamily F member 3	CYP4F3 CYP4F	Bartter disease 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 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 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 Clostridium difficile colitis Conn's syndrome Crohn's colitis Crohn's disease Meier-Gorlin syndrome 1 Meier-Gorlin syndrome Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Plasmodium vivax malaria Waterhouse-Friderichsen syndrome acoustic neuroma acquired immunodeficiency syndrome acute intermittent porphyria acute lymphoblastic leukemia acute myocardial infarction adrenal adenoma adrenal cortex cancer adrenal gland cancer adrenal gland hyperfunction adult acute lymphocytic leukemia agenesis of the corpus callosum with peripheral neuropathy alcohol use disorder allergic asthma anaplastic astrocytoma angiomatous meningioma asthma attention deficit hyperactivity disorder bacterial sepsis benign meningioma breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer carcinoma cardiovascular system disease cerebral convexity meningioma cervical adenocarcinoma cervical cancer cervix carcinoma childhood acute lymphocytic leukemia childhood cerebral astrocytoma choriocarcinoma clear cell meningioma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma congenital adrenal hyperplasia congenital aphakia congestive heart failure coronary thrombosis cystinuria diabetes mellitus embryoma endometrial cancer endometrial carcinoma endometriosis of uterus endometriosis epilepsy essential hypertension fibrillary astrocytoma fibrous meningioma galactosemia gallbladder disease gastric cardia carcinoma gemistocytic astrocytoma glucosephosphate dehydrogenase deficiency glycogen storage disease Ia glycogen storage disease gout heart disease hepatitis C hepatoblastoma hepatocellular carcinoma hereditary neuropathy with liability to pressure palsies hereditary sensory and autonomic neuropathy type 1 hereditary sensory and autonomic neuropathy type 1A hereditary sensory neuropathy hidradenitis suppurativa hidradenitis high grade glioma human immunodeficiency virus infectious disease hypertension inflammatory bowel disease 1 inflammatory bowel disease intraorbital meningioma intraventricular meningioma intrinsic asthma irritable bowel syndrome juvenile pilocytic astrocytoma kidney cancer kidney failure large intestine cancer laryngeal squamous cell carcinoma leiomyoma lingual-facial-buccal dyskinesia liver cancer liver cirrhosis liver disease lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma lymphoplasmacyte-rich meningioma malignant astrocytoma meningioma meningothelial meningioma microcystic meningioma motor peripheral neuropathy myocardial infarction myofibroma neurocirculatory asthenia obesity obsolete Cushing's syndrome obsolete hereditary motor and sensory neuropathy with agenesis of the corpus callosum olfactory groove meningioma pancreatic ductal adenocarcinoma parasagittal meningioma patent ductus arteriosus pilocytic astrocytoma pituitary adenoma placenta cancer pompholyx primary hyperaldosteronism prostate cancer prostate carcinoma protoplasmic astrocytoma psammomatous meningioma sarcomatoid carcinoma schizophrenia secretory meningioma sensory peripheral neuropathy silent myocardial infarction spinal meningioma squamous cell carcinoma steatotic liver disease stomach cancer stomach carcinoma subependymal giant cell astrocytoma sudden infant death syndrome tongue squamous cell carcinoma transitional meningioma tuberculosis type 2 diabetes mellitus ulcerative colitis uterine corpus cancer uterine fibroid viral infectious disease visual epilepsy
11283	cytochrome P450 family 4 subfamily F member 8	CYP4F8	colorectal adenocarcinoma hypertension prostate cancer prostate carcinoma
10858	cytochrome P450 family 46 subfamily A member 1	CYP46A1	Alzheimer's disease 10 Alzheimer's disease 11 Alzheimer's disease 12 Alzheimer's disease 13 Alzheimer's disease 14 Alzheimer's disease 15 Alzheimer's disease 1 Alzheimer's disease 2 Alzheimer's disease 5 Alzheimer's disease 6 Alzheimer's disease 7 Alzheimer's disease 8 Alzheimer's disease Creutzfeldt-Jakob disease Huntington's disease-like 1 Huntington's disease-like 2 Huntington's disease Lennox-Gastaut syndrome Pick's disease Reye syndrome abdominal obesity-metabolic syndrome 1 age related macular degeneration amyloidosis brain disease cancer cardiac arrest cerebral degeneration cerebrovascular disease chronic fatigue syndrome colorectal cancer colorectal carcinoma degeneration of macula and posterior pole depressive disorder diabetes mellitus dysthymic disorder encephalitis encephalomyelitis giant cell glioblastoma glioblastoma high grade glioma large intestine cancer macular degeneration major depressive disorder melancholic depression multiple sclerosis myelitis neurodegenerative disease neurotic disorder obsolete melancholia primary open angle glaucoma tauopathy type 2 diabetes mellitus
1595	cytochrome P450 family 51 subfamily A member 1	CYP51A1 CP51 CYPL1 LDM P450-14DM P450L1	Alzheimer's disease Antley-Bixler syndrome with disordered steroidogenesis Bloch-Sulzberger syndrome Chagas disease Cryptococcal meningitis Fanconi syndrome Poland syndrome aspergillosis black piedra cancer candidiasis cataract classic galactosemia coccidioidomycosis cryptococcosis cystinosis dermatophytosis diabetes mellitus embryoma familial hyperlipidemia fungal infectious disease galactokinase deficiency galactosemia gallbladder disease hepatocellular carcinoma histoplasmosis hypomelanosis of Ito leishmaniasis liver cancer liver disease myotonic dystrophy type 2 oral candidiasis pancreatic cancer pancreatic carcinoma parasitic protozoa infectious disease polycystic ovary syndrome primary amebic meningoencephalitis prostate cancer seborrheic infantile dermatitis spondyloepimetaphyseal dysplasia, Sponastrime type sporotrichosis superficial mycosis trypanosomiasis tuberculosis visceral leishmaniasis white piedra
1581	cytochrome P450 family 7 subfamily A member 1	CYP7A1 cholesterol 7 alpha-monooxygenase cholesterol 7α-hydroxylase	Aicardi-Goutieres syndrome Gerstmann-Straussler-Scheinker syndrome Gorham's disease Graves' disease acute monocytic leukemia acute myeloid leukemia acute myocardial infarction alcoholic hepatitis androgen insensitivity syndrome arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease atherosclerosis biliary atresia cardiovascular system disease cholangiocarcinoma cholecystolithiasis choledocholithiasis cholelithiasis cholestasis colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma congenital bile acid synthesis defect 3 congenital bile acid synthesis defect coronary artery disease coronary thrombosis diabetes mellitus diabetic ketoacidosis diarrhea disease of metabolism essential hypertension extrahepatic cholestasis familial combined hyperlipidemia familial hypercholesterolemia familial hyperlipidemia gallbladder cancer gallbladder carcinoma gallbladder disease gestational diabetes heart disease hepatitis hepatoblastoma hepatocellular carcinoma homocystinuria hypertension hyperthyroidism intrahepatic cholangiocarcinoma kwashiorkor large intestine cancer liver cancer liver disease marasmus metabolic dysfunction-associated steatohepatitis multiple sclerosis myocardial infarction neuromyelitis optica nutmeg liver nutrition disease obesity obsolete type 1 diabetes mellitus 9 osteomalacia placental insufficiency premature menopause primary biliary cholangitis primary ovarian insufficiency protein-energy malnutrition rickets silent myocardial infarction steatotic liver disease thyrotoxicosis 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
9420	cytochrome P450 family 7 subfamily B member 1	CYP7B1	Alzheimer's disease 10 Alzheimer's disease 11 Alzheimer's disease 12 Alzheimer's disease 13 Alzheimer's disease 14 Alzheimer's disease 15 Alzheimer's disease 1 Alzheimer's disease 2 Alzheimer's disease 5 Alzheimer's disease 6 Alzheimer's disease 7 Alzheimer's disease 8 Alzheimer's disease Charcot-Marie-Tooth disease type 5 Henoch-Schoenlein purpura MASA syndrome Mast syndrome Pick's disease Reye syndrome SPOAN syndrome Troyer syndrome acquired immunodeficiency syndrome adenocarcinoma adenoma arthritis arthropathy autosomal recessive polycystic kidney disease blood coagulation disease breast cancer breast carcinoma cancer cataract cerebellar ataxia cerebellar disease cerebral degeneration cholestasis chronic obstructive pulmonary disease colitis colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma congenital bile acid synthesis defect 3 congenital bile acid synthesis defect congenital nystagmus cribriform carcinoma critical illness polyneuropathy depressive disorder diabetes mellitus diabetic ketoacidosis diarrhea disease of metabolism dissociated nystagmus embryoma gallbladder cancer gallbladder carcinoma gallbladder disease gastroenteritis granular cell carcinoma hepatitis 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 ileitis ileocolitis inflammatory and toxic neuropathy inflammatory bowel disease 1 inflammatory bowel disease intrahepatic cholestasis kwashiorkor large intestine cancer lipid metabolism disorder liver disease luminal breast carcinoma A major depressive disorder marasmus melancholic depression meningoencephalitis multiple sclerosis neurodegenerative disease neuropathy nutrition disease obsolete inherited blood coagulation disease obsolete melancholia obsolete steatorrhea optic atrophy osteoarthritis paraplegia pathologic nystagmus peripheral nervous system disease polycystic kidney disease 4 polyneuropathy prostate adenocarcinoma prostate cancer prostate carcinoma protein-energy malnutrition rheumatoid arthritis scoliosis sensorineural hearing loss spontaneous ocular nystagmus steatotic liver disease tubular adenocarcinoma type 2 diabetes mellitus ulcerative colitis
1582	cytochrome P450 family 8 subfamily B member 1	CYP8B1 CYP12	Alzheimer's disease 10 Alzheimer's disease 11 Alzheimer's disease 12 Alzheimer's disease 13 Alzheimer's disease 14 Alzheimer's disease 15 Alzheimer's disease 1 Alzheimer's disease 2 Alzheimer's disease 5 Alzheimer's disease 6 Alzheimer's disease 7 Alzheimer's disease 8 Alzheimer's disease Pick's disease Reye syndrome androgen insensitivity syndrome cerebral degeneration cholecystolithiasis choledocholithiasis cholelithiasis cholestasis diabetes mellitus diabetic ketoacidosis disease of metabolism extrahepatic cholestasis metabolic dysfunction-associated steatotic liver disease premature menopause steatotic liver disease type 2 diabetes mellitus
51706	cytochrome b5 reductase 1	CYB5R1 humb5R2	cancer colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma large intestine cancer
51700	cytochrome b5 reductase 2	CYB5R2	cancer giant cell glioblastoma glioblastoma nasopharynx carcinoma prostate cancer prostate carcinoma
1727	cytochrome b5 reductase 3	CYB5R3 B5R NADH-cytochrome b5 reductase 3	acquired polycythemia alternating hemiplegia of childhood autonomic neuropathy bladder urothelial carcinoma brain disease breast cancer breast carcinoma cancer central nervous system disease colon cancer colonic benign neoplasm colorectal cancer contagious pustular dermatitis cowpox dystonia embryoma epilepsy erythema infectiosum erythropoietin polycythemia esotropia essential hypertension estrogen-receptor negative breast cancer exanthema subitum familial erythrocytosis 2 familial hyperlipidemia hypertension hypertropia idiopathic scoliosis intellectual disability large intestine cancer learning disability lingual-facial-buccal dyskinesia locked-in syndrome maple syrup urine disease mechanical strabismus methemoglobinemia microcephaly milker's nodule monocular esotropia movement disease nervous system disease ophthalmoplegia placental insufficiency polycythemia vera polycythemia quadriplegia sickle cell anemia smallpox strabismus stress polycythemia sulfhemoglobinemia syndromic X-linked intellectual disability 94 tarsal-carpal coalition syndrome thyroid adenoma thyroid cancer thyroid gland carcinoma variola major variola minor visual epilepsy
51167	cytochrome b5 reductase 4	CYB5R4 b5+b5R dJ676J13.1	breast cancer diabetes mellitus diabetic ketoacidosis gestational diabetes glucose intolerance maturity-onset diabetes of the young prediabetes syndrome type 2 diabetes mellitus
606495	cytochrome b5 reductase like	CYB5RL LOC606495
1635	dCMP deaminase	DCTD	breast cancer cancer esophagus squamous cell carcinoma gliosarcoma high grade glioma leukopenia mixed glioma pancreatic adenocarcinoma pancreatic cancer pancreatic carcinoma
1634	decorin	DCN DSPG2 SLRR1B decorin proteoglycan	Alzheimer's disease 10 Alzheimer's disease 11 Alzheimer's disease 12 Alzheimer's disease 13 Alzheimer's disease 14 Alzheimer's disease 15 Alzheimer's disease 1 Alzheimer's disease 2 Alzheimer's disease 5 Alzheimer's disease 6 Alzheimer's disease 7 Alzheimer's disease 8 Alzheimer's disease CADASIL 1 CADASIL Cockayne syndrome Cornelia de Lange syndrome Dubowitz syndrome Duchenne muscular dystrophy Ehlers-Danlos syndrome spondylodysplastic type 2 Ehlers-Danlos syndrome Hailey-Hailey disease IgA glomerulonephritis Kaposi's sarcoma Li-Fraumeni syndrome 1 Li-Fraumeni syndrome Lyme disease Marfan syndrome Noonan syndrome 10 Noonan syndrome 1 Noonan syndrome 2 Noonan syndrome 3 Noonan syndrome 4 Noonan syndrome 5 Noonan syndrome 6 Noonan syndrome 7 Noonan syndrome 8 Noonan syndrome 9 Noonan syndrome Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Peyronie's disease Pick's disease Prader-Willi syndrome Reye syndrome Richter's syndrome Robinow syndrome Rothmund-Thomson syndrome SADDAN Seckel syndrome Silver-Russell syndrome Werner syndrome X-linked Aarskog syndrome abdominal aortic aneurysm achondrogenesis type IB achondroplasia actinic keratosis acute interstitial pneumonia acute myocardial infarction adult respiratory distress syndrome allergic asthma alopecia amyloidosis angiokeratoma angiosarcoma angle-closure glaucoma arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease arthritis arthropathy asthma atherosclerosis atrophic gastritis autosomal dominant Emery-Dreifuss muscular dystrophy 2 autosomal dominant Robinow syndrome 1 autosomal dominant Robinow syndrome 2 autosomal dominant Robinow syndrome 3 autosomal dominant cutis laxa 1 autosomal dominant cutis laxa 2 autosomal dominant cutis laxa 3 autosomal dominant cutis laxa 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 dominant polycystic kidney disease autosomal recessive Robinow syndrome autosomal recessive cutis laxa type IA autosomal recessive cutis laxa type IB autosomal recessive cutis laxa type II classic type autosomal recessive cutis laxa type IIA autosomal recessive cutis laxa type IIB autosomal recessive cutis laxa type IIC autosomal recessive cutis laxa type IID autosomal recessive cutis laxa type IIIA autosomal recessive cutis laxa type IIIB autosomal recessive 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 balanitis xerotica obliterans basal cell carcinoma benign breast phyllodes tumor bladder carcinoma bladder neck obstruction bone disease bone giant cell tumor bone osteosarcoma brain cancer breast cancer breast carcinoma breast fibroadenoma breast fibrocystic disease breast malignant phyllodes tumor breast metaplastic carcinoma bronchus cancer bronchus carcinoma cancer carcinoma cardiomyopathy cardiovascular system disease cartilage disease central nervous system cancer cerebral degeneration cerebral infarction cerebrovascular disease cervical adenocarcinoma cervical cancer cervix carcinoma cherubism childhood angiosarcoma childhood osteosarcoma cholestasis chondrodysplasia-pseudohermaphroditism syndrome chondrosarcoma chromophobe renal cell carcinoma chronic closed-angle glaucoma chronic interstitial cystitis chronic lymphocytic leukemia chronic obstructive pulmonary disease chronic ulcer of skin clear cell renal cell carcinoma collagen disease collecting duct carcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma congenital diaphragmatic hernia congenital disorder of glycosylation congenital merosin-deficient muscular dystrophy 1A congenital muscular dystrophy congenital stromal corneal dystrophy congestive heart failure connective tissue disease cornea plana corneal neovascularization coronary artery disease coronary thrombosis crescentic glomerulonephritis cutis laxa cystic fibrosis diabetes mellitus diabetic ketoacidosis distal myopathy embryoma endometrial cancer endometrial carcinoma endometriosis of uterus endometriosis endomyocardial fibrosis epidermolysis bullosa dystrophica epithelioid malignant peripheral nerve sheath tumor epithelioid sarcoma esophageal cancer esophageal carcinoma essential hypertension exostosis facioscapulohumeral muscular dystrophy 1 facioscapulohumeral muscular dystrophy familial adenomatous polyposis familial periodic paralysis female stress incontinence gestational diabetes giant cell glioblastoma glioblastoma gliosarcoma glomerulonephritis glucose intolerance heart disease hepatocellular carcinoma hiatus hernia high grade glioma hyperglycemia hypertension hypertrophic cardiomyopathy hypochondroplasia idiopathic interstitial pneumonia idiopathic pulmonary fibrosis inclusion body myositis intellectual disability interstitial cystitis interstitial nephritis intestinal benign neoplasm intestinal cancer intrinsic asthma invasive ductal carcinoma kidney disease kidney failure kidney hypertrophy large intestine cancer laryngeal benign neoplasm laryngeal carcinoma laryngeal disease larynx cancer learning disability limb-girdle muscular dystrophy lipoma liver cancer liver carcinoma liver cirrhosis localized scleroderma lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung disease lung non-small cell carcinoma mal de Meleda malignant peripheral nerve sheath tumor mesangial proliferative glomerulonephritis microcephalic osteodysplastic primordial dwarfism type I microcephalic osteodysplastic primordial dwarfism type II microglandular adenosis mixed glioma multiple myeloma multiple sclerosis multiple symmetric lipomatosis muscular dystrophy myeloproliferative disorder with eosinophilia myocardial infarction myocarditis myofibrillar myopathy 1 myofibrillar myopathy 3 myopathy myopia myxofibrosarcoma neovascular inflammatory vitreoretinopathy nephritis nephrosclerosis nephrosis neurilemmoma neuroblastoma neurofibrosarcoma neurogenic arthropathy newborn respiratory distress syndrome nonpapillary renal cell carcinoma obesity 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 obsolete type 1 diabetes mellitus 9 oculopharyngeal muscular dystrophy ossification of the posterior longitudinal ligament of spine osteoarthritis osteochondrodysplasia osteogenesis imperfecta type 10 osteogenesis imperfecta type 11 osteogenesis imperfecta type 12 osteogenesis imperfecta type 13 osteogenesis imperfecta type 14 osteogenesis imperfecta type 15 osteogenesis imperfecta type 16 osteogenesis imperfecta type 17 osteogenesis imperfecta type 1 osteogenesis imperfecta type 2 osteogenesis imperfecta type 3 osteogenesis imperfecta type 4 osteogenesis imperfecta type 5 osteogenesis imperfecta type 6 osteogenesis imperfecta type 7 osteogenesis imperfecta type 8 osteogenesis imperfecta type 9 osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures osteogenesis imperfecta osteosarcoma ovarian cancer ovarian carcinoma pancreatic cancer pancreatic carcinoma papillary adenocarcinoma papillary renal cell carcinoma papilloma periarthritis placental insufficiency pleomorphic lipoma polycystic kidney disease 1 polycystic ovary syndrome posterior amorphous corneal dystrophy postinflammatory pulmonary fibrosis prediabetes syndrome primary angle-closure glaucoma primary open angle glaucoma primary pulmonary hypertension progeria prostate cancer prostate carcinoma proteinuria pseudoachondroplasia pseudosarcomatous fibromatosis pulmonary fibrosis pulmonary hypertension pyelitis pyelonephritis pyoureter rapidly progressive glomerulonephritis recessive dystrophic epidermolysis bullosa renal carcinoma renal cell carcinoma renal infectious disease restrictive dermopathy retinal disease retinitis rippling muscle disease 2 sarcoma sarcomatoid carcinoma sarcomatoid renal cell carcinoma scleroderma seborrheic keratosis silent myocardial infarction situs inversus skin atrophy skin disease spindle cell sarcoma squamous cell carcinoma squamous cell papilloma steatotic liver disease stomach cancer stomach carcinoma systemic scleroderma tendinitis thrombosis thyroid adenoma thyroid cancer thyroid gland carcinoma thyroid gland papillary carcinoma tongue squamous cell carcinoma tracheal disease transitional cell carcinoma 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 uremia urinary bladder cancer uterine corpus cancer vascular cancer vascular disease vulva carcinoma vulvar dystrophy
1603	defender against cell death 1	DAD1	Barrett's esophagus allergic asthma asthma cancer embryoma intrinsic asthma lung small cell carcinoma neuroendocrine carcinoma neuroendocrine tumor
79947	dehydrodolichyl diphosphate synthase subunit	DHDDS DS FLJ13102 HDS RP59 hCIT	Alzheimer's disease Cockayne syndrome Cornelia de Lange syndrome Crohn's colitis Crohn's disease Dubowitz syndrome Ehrlich tumor carcinoma Laron syndrome Noonan syndrome 10 Noonan syndrome 1 Noonan syndrome 2 Noonan syndrome 3 Noonan syndrome 4 Noonan syndrome 5 Noonan syndrome 6 Noonan syndrome 7 Noonan syndrome 8 Noonan syndrome 9 Noonan syndrome Patau syndrome Prader-Willi syndrome Robinow syndrome Seckel syndrome Silver-Russell syndrome Unverricht-Lundborg syndrome Weissenbacher-Zweymuller syndrome X-linked Aarskog syndrome Zollinger-Ellison syndrome achondroplasia acute myeloid leukemia adenocarcinoma adenoma adult medulloblastoma adult oligodendroglioma agranulocytosis amyotrophic lateral sclerosis anodontia attention deficit hyperactivity disorder autosomal dominant Robinow syndrome 1 autosomal dominant Robinow syndrome 2 autosomal dominant Robinow syndrome 3 autosomal recessive Robinow syndrome bladder carcinoma blepharospasm blindness bone osteosarcoma brain stem glioma breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer carnitine palmitoyltransferase II deficiency cataract central nervous system cancer central nervous system lymphoma cerebral degeneration cervical squamous cell carcinoma childhood medulloblastoma childhood oligodendroglioma chondrodysplasia-pseudohermaphroditism syndrome chromophobe renal cell carcinoma clear cell renal cell carcinoma collecting duct carcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma cone-rod dystrophy congenital diaphragmatic hernia corneal disease cribriform carcinoma cryptorchidism decubitus ulcer dementia depressive disorder developmental delay and seizures with or without movement abnormalities diarrhea dysthymic disorder dystonia early myoclonic encephalopathy embryoma endometrial cancer endometrial carcinoma epilepsy esophagus squamous cell carcinoma focal hand dystonia fundus albipunctatus giant cell glioblastoma glaucoma glioblastoma gliosarcoma granular cell carcinoma hepatocellular carcinoma hiatus hernia high grade glioma hyperinsulinism hypoglycemia hypogonadism inflammatory bowel disease 1 inflammatory bowel disease islet cell tumor keratoconus kidney failure large intestine cancer leukopenia lingual-facial-buccal dyskinesia liver cancer liver cirrhosis lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma lung small cell carcinoma lymphoma major depressive disorder medulloblastoma medullomyoblastoma melancholic depression melanotic medulloblastoma microcephalic osteodysplastic primordial dwarfism type I microcephalic osteodysplastic primordial dwarfism type II microcephaly mitochondrial metabolism disease mitochondrial myopathy mitochondrial trifunctional protein deficiency mixed glioma mixed oligodendroglioma-astrocytoma multiple myeloma neuroblastoma neurofibromatosis 1 neurofibromatosis neurotic disorder neutropenia obsolete infantile epileptic encephalopathy obsolete melancholia obsolete ymphosarcoma oligodendroglioma ophthalmoplegia osteosarcoma ovarian cancer ovarian carcinoma pancreatic cancer pancreatic carcinoma pancreatic endocrine carcinoma papillary renal cell carcinoma pathological gambling progressive muscular atrophy prostate cancer prostate carcinoma psychotic disorder pyruvate carboxylase deficiency disease pyruvate decarboxylase deficiency rectal benign neoplasm rectum adenocarcinoma rectum cancer renal carcinoma renal cell carcinoma retinal degeneration retinitis pigmentosa 59 retinitis pigmentosa rippling muscle disease 2 sarcomatoid renal cell carcinoma schizoaffective disorder schizophrenia schizophreniform disorder severe congenital neutropenia squamous cell carcinoma squamous cell neoplasm status epilepticus steatotic liver disease stomach cancer stomach carcinoma subacute bacterial endocarditis substance abuse substance-related disorder thyroid gland medullary carcinoma tooth agenesis tubular adenocarcinoma ulcerative colitis urinary bladder cancer uterine corpus cancer varicocele visual epilepsy
55526	dehydrogenase E1 and transketolase domain containing 1	DHTKD1	2-aminoadipic 2-oxoadipic aciduria Charcot-Marie-Tooth disease axonal type 2Q

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