GlyCosmos Portal

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GlyCosmos Genes

Integrated list of glycan-related genes extracted KEGG GENES Database, UniProt, GlycoGene Database (GGDB), Plant GARDEN and FlyGlycoDB. Glycan-related genes including glycosyltransferase, hydrolase activity (acting on glycosyl bonds), carbohydrate metabolic process, etc .

Source	Last Updated
FlyGlycoDB	March 25, 2024
GlycoGene Database (GGDB)	January 26, 2018
KEGG GENES Database	September 20, 2023
Plant GARDEN	May 28, 2020
UniProt	July 8, 2024

Selecting the function you want to look up from the categories displays a list narrowed down to glycan-related genes with that function (Gene Ontology).

Catalytic activity

glycosyltransferase activity

hydrolase activity, acting on glycosyl bonds

Binding

carbohydrate binding

Response to carbohydrate

Primary metabolic process

Displaying entries **1051 - 1075** of **1582** in total

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Gene ID	Gene Name	Gene Symbol	Organism	Disease Ontology ▼
10998	solute carrier family 27 member 5	SLC27A5 Aliases: ACSB ACSVL6 FACVL3 FATP5 FLJ22987 VLACSR VLCS-H2 VLCSH2 fatty-acid-Coenzyme A ligase, very long-chain 3	Homo sapiens (human)	B-cell lymphoma Bloch-Sulzberger syndrome Goodpasture syndrome Loeffler syndrome Takayasu's arteritis X-linked chronic granulomatous disease abdominal obesity-metabolic syndrome 1 acute lymphoblastic leukemia acute monocytic leukemia acute myeloid leukemia adrenoleukodystrophy adult acute lymphocytic leukemia adult lymphoma adult respiratory distress syndrome agranulocytosis allergic asthma asthma autoimmune lymphoproliferative syndrome type 2A autoimmune lymphoproliferative syndrome type 2B autoimmune lymphoproliferative syndrome type 3 autoimmune lymphoproliferative syndrome bacterial infectious disease brain disease bronchiectasis cancer central nervous system lymphoma childhood acute lymphocytic leukemia childhood lymphoma chronic granulomatous disease chronic obstructive pulmonary disease complement deficiency cutaneous porphyria cystic fibrosis embryoma eosinophilic pneumonia epithelioid sarcoma erythropoietic protoporphyria esophagus squamous cell carcinoma extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue extrinsic allergic alveolitis farmer's lung gastric lymphoma giardiasis granulomatosis with polyangiitis hepatitis hepatocellular carcinoma hypereosinophilic syndrome hypomelanosis of Ito idiopathic interstitial pneumonia idiopathic pulmonary fibrosis influenza interstitial lung disease intrinsic asthma leukopenia liver cancer liver cirrhosis lung disease lymphoma lymphoproliferative syndrome 1 lymphoproliferative syndrome 2 neutropenia newborn respiratory distress syndrome obesity obsolete ymphosarcoma pneumocystosis pneumonia polyarteritis nodosa postinflammatory pulmonary fibrosis primary ciliary dyskinesia 1 primary ciliary dyskinesia psychotic disorder pulmonary alveolar proteinosis pulmonary eosinophilia pulmonary fibrosis pulmonary sarcoidosis pulmonary tuberculosis red-green color blindness sarcoidosis sarcoma schizoaffective disorder schizophrenia schizophreniform disorder scleroderma severe congenital neutropenia spindle cell sarcoma steatotic liver disease systemic Epstein-Barr virus positive T-cell lymphoma of childhood systemic scleroderma tuberculosis tuberculous pneumothorax uveoparotid fever
1056	carboxyl ester lipase	CEL	Homo sapiens (human)	B-cell lymphoma Bloch-Sulzberger syndrome Goodpasture syndrome Loeffler syndrome Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Takayasu's arteritis Wolman disease X-linked chronic granulomatous disease acute lymphoblastic leukemia acute monocytic leukemia acute myeloid leukemia acute pancreatitis adamantinous craniopharyngioma adenocarcinoma adenoma adiposis dolorosa adult acute lymphocytic leukemia adult lymphoma adult respiratory distress syndrome aggressive systemic mastocytosis agranulocytosis alcoholic liver cirrhosis alcoholic pancreatitis allergic asthma arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease asthma ataxic cerebral palsy atherosclerosis autoimmune lymphoproliferative syndrome type 2A autoimmune lymphoproliferative syndrome type 2B autoimmune lymphoproliferative syndrome type 3 autoimmune lymphoproliferative syndrome bacterial infectious disease bone marrow cancer brain disease breast cancer breast carcinoma bronchiectasis cancer central nervous system lymphoma childhood acute lymphocytic leukemia childhood lymphoma chronic eosinophilic leukemia chronic granulomatous disease chronic neutrophilic leukemia chronic obstructive pulmonary disease complement deficiency coronary artery disease craniopharyngioma cribriform carcinoma cutaneous porphyria cystic fibrosis cystic kidney disease diabetes mellitus diabetic ketoacidosis embryoma eosinophilic pneumonia epithelioid sarcoma erythropoietic protoporphyria exocrine pancreatic insufficiency extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue extrinsic allergic alveolitis familial hyperinsulinemic hypoglycemia 1 familial hyperinsulinemic hypoglycemia 2 familial hyperlipidemia farmer's lung gastric lymphoma giardiasis glomerulonephritis granular cell carcinoma granulomatosis with polyangiitis hematologic cancer hepatitis C hepatitis hepatocellular carcinoma histoplasmosis hypereosinophilic syndrome hyperglycemia hyperinsulinemic hypoglycemia hypomelanosis of Ito idiopathic interstitial pneumonia idiopathic pulmonary fibrosis indolent systemic mastocytosis influenza interstitial lung disease intrinsic asthma kidney disease kwashiorkor leukopenia lipid storage disease lipomatosis liver cancer lung disease lymphoma lymphoproliferative syndrome 1 lymphoproliferative syndrome 2 lysosomal acid lipase deficiency malaria marasmus mastocytosis maturity-onset diabetes of the young type 8 maturity-onset diabetes of the young microphthalmia multiple symmetric lipomatosis myeloproliferative neoplasm nasopharynx carcinoma nephritis nephrosis neurofibromatosis 1 neurofibromatosis neutropenia newborn respiratory distress syndrome non-congenital cyst of kidney nutmeg liver nutrition disease obesity obsolete Matthew-Wood syndrome obsolete multiple symmetrical lipomatosis obsolete ymphosarcoma pancreas disease pancreatic cancer pancreatic carcinoma pancreatic ductal adenocarcinoma pancreatitis papillary craniopharyngioma placental insufficiency plasmacytoma pneumocystosis pneumonia polyarteritis nodosa polycythemia vera polycythemia postinflammatory pulmonary fibrosis primary ciliary dyskinesia 1 primary ciliary dyskinesia protein-energy malnutrition pulmonary alveolar proteinosis pulmonary eosinophilia pulmonary fibrosis pulmonary sarcoidosis pulmonary tuberculosis pyoureter red-green color blindness retinal disease retinitis sarcoidosis sarcoma scleroderma severe congenital neutropenia spindle cell sarcoma steatotic liver disease substance abuse substance-related disorder systemic Epstein-Barr virus positive T-cell lymphoma of childhood systemic mastocytosis systemic scleroderma tuberculosis tuberculous pneumothorax tubular adenocarcinoma type 1 diabetes mellitus type 2 diabetes mellitus uveoparotid fever
83666	poly(ADP-ribose) polymerase family member 9	PARP9 Aliases: ARTD9 BAL BAL1	Homo sapiens (human)	B-cell lymphoma Bloch-Sulzberger syndrome Gilles de la Tourette syndrome Goodpasture syndrome Loeffler syndrome Richter's syndrome Takayasu's arteritis X-linked chronic granulomatous disease acute lymphoblastic leukemia acute monocytic leukemia acute myeloid leukemia adult acute lymphocytic leukemia adult lymphoma adult respiratory distress syndrome agranulocytosis alcohol dependence alcohol use disorder allergic asthma anorexia nervosa asthma autoimmune lymphoproliferative syndrome type 2A autoimmune lymphoproliferative syndrome type 2B autoimmune lymphoproliferative syndrome type 3 autoimmune lymphoproliferative syndrome bacterial infectious disease bipolar disorder brain disease breast cancer breast carcinoma bronchiectasis cancer central nervous system lymphoma childhood acute lymphocytic leukemia childhood lymphoma chronic granulomatous disease chronic lymphocytic leukemia chronic obstructive pulmonary disease complement deficiency cutaneous porphyria cystic fibrosis diffuse large B-cell lymphoma embryoma eosinophilic pneumonia epithelioid sarcoma erythropoietic protoporphyria extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue extrinsic allergic alveolitis farmer's lung gastric lymphoma giardiasis granulomatosis with polyangiitis hepatitis hepatocellular carcinoma heroin dependence hypereosinophilic syndrome hypomelanosis of Ito idiopathic interstitial pneumonia idiopathic pulmonary fibrosis influenza interstitial lung disease intrinsic asthma leukopenia liver cancer lung disease lymphoma lymphoproliferative syndrome 1 lymphoproliferative syndrome 2 morphine dependence neutropenia newborn respiratory distress syndrome obesity obsolete ymphosarcoma opiate dependence pneumocystosis pneumonia polyarteritis nodosa postinflammatory pulmonary fibrosis primary ciliary dyskinesia 1 primary ciliary dyskinesia prostate cancer prostate carcinoma pulmonary alveolar proteinosis pulmonary eosinophilia pulmonary fibrosis pulmonary sarcoidosis pulmonary tuberculosis red-green color blindness rheumatoid arthritis sarcoidosis sarcoma schizophrenia scleroderma severe congenital neutropenia spindle cell sarcoma substance abuse substance-related disorder systemic Epstein-Barr virus positive T-cell lymphoma of childhood systemic scleroderma tuberculosis tuberculous pneumothorax uveoparotid fever
11141	interleukin 1 receptor accessory protein like 1	IL1RAPL1 Aliases: IL1R8 OPHN4 TIGIRR-2	Homo sapiens (human)	B-cell lymphoma Bell's palsy Coffin-Lowry syndrome Klinefelter syndrome Marfan syndrome Meckel's diverticulum Patau syndrome X-linked adrenal hypoplasia congenita allergic asthma asthma attention deficit hyperactivity disorder autism spectrum disorder autistic disorder autoimmune disease autoimmune lymphoproliferative syndrome brain cancer breast cancer breast carcinoma cancer cardiovascular system disease chromosome Xp21 deletion syndrome clubfoot diffuse large B-cell lymphoma embryoma facial nerve disease facial paralysis heart disease hepatocellular carcinoma immune system disease intellectual disability intrinsic asthma learning disability liver cancer melanoma non-syndromic X-linked intellectual disability 21 non-syndromic X-linked intellectual disability obesity obsolete ymphosarcoma placental insufficiency pyloric stenosis rheumatoid arthritis situs inversus skin melanoma syndromic X-linked intellectual disability 94 tuberous sclerosis visual epilepsy vitiligo
4507	methylthioadenosine phosphorylase	MTAP Aliases: MSAP S-methyl-5'-thioadenosine phosphorylase c86fus	Homo sapiens (human)	B-cell lymphoma Barrett's esophagus Ehlers-Danlos syndrome Ewing sarcoma Langerhans-cell histiocytosis Q fever Sezary's disease T-cell acute lymphoblastic leukemia X-linked ichthyosis acute lymphoblastic leukemia acute myocardial infarction acute pancreatitis adenocarcinoma adenoma adult T-cell leukemia/lymphoma adult acute lymphocytic leukemia adult fibrosarcoma adult lymphoma arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease atherosclerosis benign deep fibrous histiocytoma benign mesothelioma benign pleural mesothelioma biliary tract benign neoplasm biliary tract cancer bone cancer bone osteosarcoma breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer carcinoma central nervous system cancer central nervous system lymphoma cerebral infarction cerebrovascular disease childhood T-cell acute lymphoblastic leukemia childhood acute lymphocytic leukemia childhood lymphoma childhood osteosarcoma chondrosarcoma chromophobe renal cell carcinoma clear cell renal cell carcinoma collecting duct carcinoma colon carcinoma colorectal cancer common bile duct neoplasm coronary artery disease coronary thrombosis cribriform carcinoma cutaneous fibrous histiocytoma diaphyseal medullary stenosis with malignant fibrous histiocytoma diffuse large B-cell lymphoma dysplastic nevus syndrome embryoma endometrial cancer endometrial carcinoma epithelioid sarcoma esophageal cancer esophageal carcinoma esophagus adenocarcinoma esophagus squamous cell carcinoma familial retinoblastoma fibrosarcoma follicular adenoma gallbladder disease gastric adenocarcinoma gastrointestinal stromal tumor giant cell glioblastoma glioblastoma gliosarcoma granular cell carcinoma hepatocellular carcinoma hidradenoma high grade glioma histiocytoma laryngeal carcinoma laryngeal squamous cell carcinoma larynx cancer liver cancer liver cirrhosis liver disease lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma lymphoblastic lymphoma lymphoid leukemia lymphoma malignant mesothelioma malignant pleural mesothelioma mantle cell lymphoma melanoma microcystic adenoma mixed glioma mycosis fungoides myeloid leukemia myocardial infarction nasopharynx carcinoma neuroblastoma neuroendocrine carcinoma neuroendocrine tumor neurofibromatosis nodular malignant melanoma non-Hodgkin lymphoma nonpapillary renal cell carcinoma nutmeg liver obsolete T-cell lymphoblastic leukemia/lymphoma obsolete ymphosarcoma oropharynx cancer osteogenesis imperfecta osteosarcoma pancreatic adenocarcinoma pancreatic cancer pancreatic carcinoma pancreatitis papillary adenoma papillary renal cell carcinoma periampullary adenocarcinoma peripheral T-cell lymphoma pleurisy primary cutaneous T-cell non-Hodgkin lymphoma prostate cancer prostate carcinoma renal carcinoma renal cell carcinoma reticulohistiocytic granuloma reticulosarcoma retinoblastoma sarcoma sarcomatoid carcinoma sarcomatoid mesothelioma sarcomatoid renal cell carcinoma sclerosing hemangioma sensorineural hearing loss silent myocardial infarction skin benign neoplasm skin cancer skin melanoma skin papilloma skin tag sleeping sickness spindle cell sarcoma squamous cell carcinoma stomach cancer stomach carcinoma syringoma tongue squamous cell carcinoma trilateral retinoblastoma trypanosomiasis tubular adenocarcinoma typhus uterine corpus cancer vestibular schwannomatosis
23600	alpha-methylacyl-CoA racemase	AMACR Aliases: P504S RACE	Homo sapiens (human)	B-cell lymphoma Barrett's esophagus Charcot-Marie-Tooth disease X-linked dominant 1 Charcot-Marie-Tooth disease X-linked dominant 6 Charcot-Marie-Tooth disease X-linked recessive 2 Charcot-Marie-Tooth disease X-linked recessive 3 Charcot-Marie-Tooth disease X-linked recessive 4 Charcot-Marie-Tooth disease X-linked recessive 5 Charcot-Marie-Tooth disease axonal type 2C Charcot-Marie-Tooth disease axonal type 2F Charcot-Marie-Tooth disease axonal type 2H Charcot-Marie-Tooth disease axonal type 2K Charcot-Marie-Tooth disease axonal type 2L Charcot-Marie-Tooth disease axonal type 2N Charcot-Marie-Tooth disease axonal type 2O Charcot-Marie-Tooth disease axonal type 2P Charcot-Marie-Tooth disease axonal type 2Q Charcot-Marie-Tooth disease axonal type 2T Charcot-Marie-Tooth disease axonal type 2U Charcot-Marie-Tooth disease dominant intermediate A Charcot-Marie-Tooth disease dominant intermediate B Charcot-Marie-Tooth disease dominant intermediate C Charcot-Marie-Tooth disease dominant intermediate D Charcot-Marie-Tooth disease dominant intermediate E Charcot-Marie-Tooth disease dominant intermediate F Charcot-Marie-Tooth disease recessive intermediate B Charcot-Marie-Tooth disease recessive intermediate C Charcot-Marie-Tooth disease recessive intermediate D Charcot-Marie-Tooth disease type 1A Charcot-Marie-Tooth disease type 1B Charcot-Marie-Tooth disease type 1C Charcot-Marie-Tooth disease type 1D Charcot-Marie-Tooth disease type 1E Charcot-Marie-Tooth disease type 1F Charcot-Marie-Tooth disease type 2 Charcot-Marie-Tooth disease type 2A1 Charcot-Marie-Tooth disease type 2A2A Charcot-Marie-Tooth disease type 2B1 Charcot-Marie-Tooth disease type 2B2 Charcot-Marie-Tooth disease type 2B Charcot-Marie-Tooth disease type 2D Charcot-Marie-Tooth disease type 2E Charcot-Marie-Tooth disease type 2I Charcot-Marie-Tooth disease type 2J Charcot-Marie-Tooth disease type 2R Charcot-Marie-Tooth disease type 2Y Charcot-Marie-Tooth disease type 3 Charcot-Marie-Tooth disease type 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 Ewing sarcoma Gilbert syndrome Japanese encephalitis Kawasaki disease Langerhans-cell histiocytosis MHC class II deficiency Marfan syndrome Rett syndrome acinar cell carcinoma acute myeloid leukemia adenocarcinoma adenoma adenosine deaminase deficiency agenesis of the corpus callosum with peripheral neuropathy alpha-methylacyl-CoA racemase deficiency atrial fibrillation atrophy of prostate bilirubin metabolic disorder bladder carcinoma blindness blood coagulation disease brain disease breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer carcinoma cardiovascular system disease central nervous system cancer cerebral infarction cerebral primitive neuroectodermal tumor cerebrovascular disease cholestasis chondroma chondrosarcoma chromophobe renal cell carcinoma chronic kidney disease clear cell adenocarcinoma clear cell renal cell carcinoma collecting duct carcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma common wart cone-rod dystrophy congenital bile acid synthesis defect 4 congenital bile acid synthesis defect congestive heart failure cribriform carcinoma cutaneous fibrous histiocytoma dengue disease depressive disorder diabetes mellitus diffuse large B-cell lymphoma dysplastic nevus syndrome dysthymic disorder embryoma embryonal cancer epilepsy esophagus adenocarcinoma essential hypertension essential thrombocythemia follicular adenoma fundus albipunctatus gallbladder disease gastrointestinal stromal tumor germ cell and embryonal cancer germ cell cancer germinoma gliosarcoma granular cell carcinoma heart disease hepatocellular carcinoma hereditary neuropathy with liability to pressure palsies hidradenoma high grade glioma hypertension hypogonadism inflammatory bowel disease 1 inflammatory bowel disease inflammatory myofibroblastic tumor intrahepatic cholestasis kidney cancer kwashiorkor large intestine cancer lipoma liver cancer liver disease lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma major depressive disorder marasmus mastitis medulloblastoma medulloepithelioma melancholic depression melanoma microcystic adenoma migraine mixed glioma motor neuritis motor peripheral neuropathy multiple sclerosis multiple symmetric lipomatosis myelodysplastic syndrome nasopharynx carcinoma neuritis neuroblastoma neuroectodermal tumor neuroendocrine carcinoma neuropathy neurotic disorder nodular prostate nonpapillary renal cell carcinoma nutrition disease obesity obsolete embryonal Tumor with Multilayered Rosettes, C19MC-Altered obsolete hereditary motor and sensory neuropathy with agenesis of the corpus callosum obsolete inherited blood coagulation disease obsolete melancholia obsolete ymphosarcoma oxyphilic adenoma pancreatic cancer pancreatitis papillary adenocarcinoma papillary adenoma papillary renal cell carcinoma papilloma peripheral nervous system disease peroxisomal disease pleomorphic lipoma primary cutaneous amyloidosis prostate adenocarcinoma prostate cancer prostate carcinoma in situ prostate carcinoma prostatic adenoma protein-energy malnutrition renal carcinoma renal cell carcinoma renal oncocytoma retinitis pigmentosa rheumatoid arthritis sarcomatoid carcinoma sarcomatoid renal cell carcinoma schizophrenia severe combined immunodeficiency situs inversus skin melanoma skin papilloma skin tag squamous cell carcinoma squamous cell papilloma status epilepticus supratentorial primitive neuroectodermal tumor syringoma thyroid adenoma thyroid cancer thyroid gland carcinoma thyroid gland papillary carcinoma tongue squamous cell carcinoma tuberculosis tuberous sclerosis 1 tuberous sclerosis tubular adenocarcinoma type 2 diabetes mellitus ulcerative colitis urinary bladder cancer viral infectious disease visual epilepsy yellow fever
27349	malonyl-CoA-acyl carrier protein transacylase	MCAT Aliases: FASN2C MCT MCT1 MT NET62 [acyl-carrier-protein] S-malonyltransferase fabD	Homo sapiens (human)	B-cell lymphoma Barrett's esophagus Burkitt lymphoma Langerhans-cell histiocytosis Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Richter's syndrome abdominal aortic aneurysm abdominal obesity-metabolic syndrome 1 actinic keratosis acute myeloid leukemia adenocarcinoma adenoma adult lymphoma benign mastocytoma bladder carcinoma bone osteosarcoma borderline personality disorder brain disease breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer carcinoma cardiomyopathy central nervous system lymphoma cervical adenocarcinoma cervical cancer cervix carcinoma childhood lymphoma childhood osteosarcoma choriocarcinoma chromophobe renal cell carcinoma chronic lymphocytic leukemia clear cell renal cell carcinoma collecting duct carcinoma colorectal cancer colorectal carcinoma congestive heart failure cribriform carcinoma depressive disorder diabetes mellitus diffuse large B-cell lymphoma distal arthrogryposis dysthymic disorder embryoma endomyocardial fibrosis epilepsy esophagus adenocarcinoma esophagus squamous cell carcinoma essential hypertension extracutaneous mastocytoma exudative vitreoretinopathy 1 exudative vitreoretinopathy familial hyperinsulinemic hypoglycemia 1 familial hyperinsulinemic hypoglycemia 2 familial medullary thyroid carcinoma follicular lymphoma gastrointestinal stromal tumor gestational diabetes giant cell glioblastoma glioblastoma granular cell carcinoma hepatocellular carcinoma high grade glioma hyperglycemia hyperinsulinemic hypoglycemia hypertension hypertrophic cardiomyopathy idiopathic generalized epilepsy inflammatory bowel disease insulinoma intermittent explosive disorder invasive ductal carcinoma large intestine cancer liver cancer lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma lymphoma major depressive disorder malaria malignant pleural mesothelioma mast cell neoplasm mastocytosis melancholic depression melanoma microphthalmia multiple endocrine neoplasia type 2A multiple myeloma neuroblastoma neurotic disorder non-Hodgkin lymphoma nonpapillary renal cell carcinoma obesity obsolete Matthew-Wood syndrome obsolete melancholia obsolete ymphosarcoma optic atrophy osteomalacia osteosarcoma ovarian cancer ovarian carcinoma pancreatic cancer pancreatic carcinoma papillary adenocarcinoma papillary renal cell carcinoma placenta cancer premenstrual tension primary hyperparathyroidism primary pulmonary hypertension prostate cancer prostate carcinoma renal carcinoma renal cell carcinoma reticulosarcoma retinopathy of prematurity rickets sarcomatoid carcinoma sarcomatoid renal cell carcinoma schizophrenia skin melanoma squamous cell carcinoma steatotic liver disease stomach cancer stomach carcinoma thyroid gland medullary carcinoma thyroid gland papillary carcinoma tongue squamous cell carcinoma tubular adenocarcinoma type 2 diabetes mellitus urinary bladder cancer urticaria pigmentosa visual epilepsy
2271	fumarate hydratase	FH Aliases: fumarase	Homo sapiens (human)	B-cell lymphoma Barrett's esophagus Burkitt lymphoma Crohn's colitis Crohn's disease Gilbert syndrome Hirschsprung's disease Langerhans-cell histiocytosis MELAS syndrome Parkinson's disease Richter's syndrome Tangier disease acquired polycythemia actinic keratosis acute lymphoblastic leukemia acute myeloid leukemia acute promyelocytic leukemia adenosarcoma adrenal carcinoma adrenal cortex cancer adrenal gland cancer adrenal gland hyperfunction adrenocortical carcinoma adult acute lymphocytic leukemia adult lymphoma aggressive systemic mastocytosis agranulocytosis aniridia aortic valve disease 2 aortic valve stenosis arthritis arthropathy autism spectrum disorder autistic disorder autoimmune disease autoimmune hepatitis autoimmune lymphoproliferative syndrome type 2A autoimmune lymphoproliferative syndrome type 2B autoimmune lymphoproliferative syndrome type 3 autoimmune lymphoproliferative syndrome bilirubin metabolic disorder bizarre leiomyoma bladder carcinoma blindness brain disease breast cancer cancer carcinoma cataract central nervous system lymphoma cerebral degeneration cerebral malaria childhood acute lymphocytic leukemia childhood kidney cell carcinoma childhood lymphoma cholestasis chromophobe renal cell carcinoma chronic lymphocytic leukemia clear cell renal cell carcinoma collecting duct carcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer congenital adrenal hyperplasia congestive heart failure cutaneous leiomyosarcoma cutaneous leishmaniasis cystic kidney disease duodenum cancer embryoma endometrial cancer endometrial carcinoma epilepsy epithelioid leiomyosarcoma erythropoietin polycythemia familial adenomatous polyposis familial erythrocytosis 2 familial renal papillary carcinoma follicular lymphoma fumarase deficiency glomerulonephritis heart cancer hemangioblastoma hypercalcemia hypertensive retinopathy immune system disease indolent systemic mastocytosis inflammatory bowel disease 1 inflammatory bowel disease kidney cancer kidney disease kwashiorkor lactic acidosis large intestine cancer late onset Parkinson's disease leiomyoma cutis leiomyoma leiomyomatosis leiomyosarcoma leukopenia lung non-small cell carcinoma lymphoma lymphoproliferative syndrome 1 lymphoproliferative syndrome 2 mantle cell lymphoma marasmus mastocytosis microcephaly microphthalmia mucinous ovarian cystadenoma mucocutaneous leishmaniasis multiple endocrine neoplasia type 2A multiple myeloma multiple sclerosis muscle benign neoplasm muscle cancer myofibroma myxoid leiomyosarcoma nasopharynx carcinoma nephritis nephroblastoma nephrocalcinosis neuroblastoma neuroendocrine carcinoma neurofibromatosis 1 neurofibromatosis neutropenia non-Hodgkin lymphoma non-congenital cyst of kidney nonpapillary renal cell carcinoma nutrition disease obsolete Cushing's syndrome obsolete ymphosarcoma optic atrophy osteoarthritis oxyphilic adenoma pancreatic cancer pancreatic carcinoma panic disorder papillary adenocarcinoma papillary renal cell carcinoma paraganglioma pheochromocytoma phosphorus metabolism disease polycythemia vera polycythemia primary biliary cholangitis primary hyperaldosteronism prostate cancer prostate carcinoma protein-energy malnutrition proteinuria rectal benign neoplasm rectum adenocarcinoma rectum cancer renal carcinoma renal cell carcinoma renal osteodystrophy reticulosarcoma sarcomatoid carcinoma sarcomatoid renal cell carcinoma schizophrenia seborrheic keratosis severe congenital neutropenia sickle cell anemia skin disease small intestine cancer smooth muscle tumor speech disorder status epilepticus stomach cancer stomach carcinoma stress polycythemia systemic Epstein-Barr virus positive T-cell lymphoma of childhood systemic lupus erythematosus systemic mastocytosis testicular cancer thyroid adenoma thyroid cancer thyroid gland carcinoma thyroid gland papillary carcinoma trichohepatoenteric syndrome 1 trichohepatoenteric syndrome ulcerative colitis urinary bladder cancer uterine corpus cancer uterine fibroid uterus leiomyosarcoma vaginal cancer visceral leishmaniasis visual epilepsy
1543	cytochrome P450 family 1 subfamily A member 1	CYP1A1 Aliases: CP11 P1-450 P450-C P450DX	Homo sapiens (human)	B-cell lymphoma Barrett's esophagus Behcet's disease Burkitt lymphoma Crohn's colitis Crohn's disease Graves' disease Keshan disease Langerhans-cell histiocytosis Lynch syndrome Mycoplasma pneumoniae pneumonia Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Richter's syndrome Sjogren's syndrome T-cell acute lymphoblastic leukemia acoustic neuroma acquired immunodeficiency syndrome actinic keratosis acute biphenotypic leukemia acute chest syndrome acute leukemia acute lymphoblastic leukemia acute myeloid leukemia acute myocardial infarction acute pancreatitis acute pericementitis adenocarcinoma in situ adenocarcinoma adenoma adult T-cell leukemia/lymphoma adult acute lymphocytic leukemia adult lymphoma adult medulloblastoma adult respiratory distress syndrome aggressive periodontitis alcohol dependence alcoholic hepatitis alcoholic liver cirrhosis allergic asthma allergic contact dermatitis allergic disease ampulla of Vater carcinoma amyotrophic lateral sclerosis angiomatous meningioma ankylosing spondylitis anxiety disorder aortitis aplastic anemia arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease ascariasis ascaridiasis asthma atherosclerosis atopic dermatitis bacterial sepsis bacteriuria basal cell carcinoma benign meningioma benign mesothelioma bile duct adenocarcinoma bile duct cancer bile duct carcinoma biliary tract cancer bladder carcinoma bladder urothelial carcinoma bone cancer brain cancer brain stem infarction breast adenocarcinoma breast cancer breast carcinoma breast fibroadenoma breast fibrocystic disease bronchitis bronchus cancer bronchus carcinoma cancer carcinoma cardiomyopathy cardiovascular system disease cataract 32 multiple types central nervous system cancer central nervous system lymphoma cerebral artery occlusion cerebral convexity meningioma cerebral infarction cerebrovascular disease cervical adenocarcinoma cervical cancer cervix carcinoma cervix uteri carcinoma in situ childhood acute lymphocytic leukemia childhood kidney cell carcinoma childhood leukemia childhood lymphoma childhood medulloblastoma cholangiocarcinoma chorioamnionitis chromophobe renal cell carcinoma chronic kidney disease chronic lymphocytic leukemia chronic myeloid leukemia chronic obstructive pulmonary disease clear cell meningioma clear cell renal cell carcinoma clubfoot collecting duct carcinoma colon adenocarcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma common wart congestive heart failure contact dermatitis coronary artery disease coronary thrombosis cribriform carcinoma cystic fibrosis depressive disorder diabetes mellitus diabetic ketoacidosis diffuse large B-cell lymphoma dilated cardiomyopathy echinococcosis embryoma end stage renal disease endemic goiter endocrine exophthalmos endometrial cancer endometrial carcinoma endometrial hyperplasia endometriosis of ovary endometriosis of uterus endometriosis endomyocardial fibrosis epilepsy esophageal cancer esophageal carcinoma esophagus adenocarcinoma esophagus squamous cell carcinoma essential hypertension familial hyperlipidemia female breast carcinoma female reproductive system disease fibrous meningioma follicular adenoma gallbladder cancer gallbladder carcinoma gallbladder disease gastric adenocarcinoma gastric cardia carcinoma generalized anxiety disorder gliosarcoma granular cell carcinoma head and neck cancer head and neck squamous cell carcinoma heart disease hemorrhoid hepatitis C hepatitis E hepatoblastoma hepatocellular carcinoma herpes simplex high grade glioma human immunodeficiency virus infectious disease hydronephrosis hyperhomocysteinemia hypertension hyperthyroidism hypertrophic cardiomyopathy hypopharynx cancer hypospadias inflammatory bowel disease 1 inflammatory bowel disease intermittent claudication intrahepatic cholangiocarcinoma intraorbital meningioma intraventricular meningioma intrinsic asthma keratoconjunctivitis sicca kidney cancer large cell carcinoma large intestine cancer laryngeal benign neoplasm laryngeal carcinoma laryngeal disease larynx cancer leiomyoma leukemia leukopenia liver cancer liver cirrhosis liver disease long QT syndrome lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung disease lung non-small cell carcinoma lung oat cell carcinoma lung small cell carcinoma lung squamous cell carcinoma lupus erythematosus lymphoblastic lymphoma lymphoma lymphoplasmacyte-rich meningioma male infertility malignant hypertension malignant mesothelioma malignant pleural mesothelioma mastitis medulloblastoma medullomyoblastoma melanotic medulloblastoma meningioma meningothelial meningioma microcystic adenoma microcystic meningioma microglandular adenosis mixed glioma multiple myeloma myocardial infarction myofibroma nevoid basal cell carcinoma syndrome newborn respiratory distress syndrome nodular prostate non-Hodgkin lymphoma nonpapillary renal cell carcinoma nutmeg liver obesity obsolete ymphosarcoma occupational dermatitis olfactory groove meningioma oral cavity cancer oral mucosa leukoplakia oral squamous cell carcinoma oral submucous fibrosis osteoporosis ovarian cancer ovarian carcinoma pancreatic adenocarcinoma pancreatic cancer pancreatic carcinoma pancreatitis papillary adenocarcinoma papillary adenoma papillary carcinoma papillary renal cell carcinoma parapsoriasis parasagittal meningioma peptic ulcer disease periodontitis periodontosis peripheral vascular disease pharynx cancer phimosis pituitary adenoma placental insufficiency plasmacytoma pleomorphic carcinoma pneumonia polycystic ovary syndrome polycythemia vera polycythemia porphyria cutanea tarda primary open angle glaucoma primary ovarian insufficiency primary pulmonary hypertension progressive muscular atrophy prostate cancer prostate carcinoma prostatic adenoma psammomatous meningioma psoriasis psoriatic arthritis pterygium pulmonary hypertension pure red-cell aplasia pustulosis of palm and sole reactive arthritis rectal benign neoplasm rectum adenocarcinoma rectum cancer renal carcinoma renal cell carcinoma respiratory failure reticulosarcoma rheumatoid arthritis sarcomatoid carcinoma sarcomatoid renal cell carcinoma scleroderma secretory meningioma seminoma silent myocardial infarction skin carcinoma spinal meningioma sporadic breast cancer squamous cell carcinoma steatotic liver disease stomach cancer stomach carcinoma substernal goiter sudden infant death syndrome systemic lupus erythematosus systemic scleroderma testicular cancer testicular malignant germ cell cancer testis seminoma thrombophilia thyroid adenoma thyroid cancer thyroid gland carcinoma thyroid gland papillary carcinoma thyrotoxicosis tongue squamous cell carcinoma tracheal disease transitional meningioma tuberculosis tubular adenocarcinoma type 2 diabetes mellitus ulcerative colitis urinary bladder cancer uterine corpus cancer uterine fibroid vasculitis visual epilepsy white sponge nevus xeroderma pigmentosum group A
22914	killer cell lectin like receptor K1	KLRK1 Aliases: CD314 KLR NKG2-D NKG2D	Homo sapiens (human)	B-cell lymphoma Barrett's esophagus Behcet's disease Burkitt lymphoma Crohn's colitis Crohn's disease Ewing sarcoma Hodgkin's granuloma Hodgkin's lymphoma, lymphocytic depletion Hodgkin's lymphoma, lymphocytic-histiocytic predominance Hodgkin's lymphoma, mixed cellularity Hodgkin's lymphoma Kaposi's sarcoma Kawasaki disease Langerhans-cell histiocytosis Sezary's disease X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia acute leukemia acute lymphoblastic leukemia acute monocytic leukemia acute myeloid leukemia acute myocardial infarction adenocarcinoma adenoma adult lymphoma alopecia alveolar echinococcosis anogenital venereal wart arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease asbestosis ataxia telangiectasia atherosclerosis atypical chronic myeloid leukemia, BCR-ABL1 negative autoimmune disease autoimmune hepatitis autoimmune lymphoproliferative syndrome basal cell carcinoma benign deep fibrous histiocytoma benign mesothelioma bile duct adenocarcinoma bile duct carcinoma bone osteosarcoma breast cancer breast carcinoma bronchiolitis obliterans bronchiolitis bronchus cancer bronchus carcinoma byssinosis cancer carcinoma celiac disease central nervous system cancer cervical adenocarcinoma cervical cancer cervix carcinoma cervix uteri carcinoma in situ childhood acute myeloid leukemia childhood leukemia childhood lymphoma childhood osteosarcoma cholangiocarcinoma chronic fatigue syndrome chronic monocytic leukemia chronic obstructive pulmonary disease colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma congestive heart failure coronary artery disease coronary thrombosis cribriform carcinoma cutaneous fibrous histiocytoma diabetes mellitus diabetic ketoacidosis distal arthrogryposis embryoma encephalitis encephalomyelitis endometriosis of uterus endometriosis epithelioid sarcoma esophagus squamous cell carcinoma familial adenomatous polyposis 1 familial adenomatous polyposis familial hyperlipidemia familial retinoblastoma fibrosarcoma gallbladder disease gastrointestinal system cancer giant cell glioblastoma glioblastoma gliosarcoma granular cell carcinoma hepatitis A hepatitis B hepatitis C hepatitis hepatocellular carcinoma high grade glioma histiocytoma hyperglycemia idiopathic interstitial pneumonia idiopathic pulmonary fibrosis immune system disease inflammatory bowel disease 1 inflammatory bowel disease intrahepatic cholangiocarcinoma islet cell tumor large intestine cancer leukemia leukocyte adhesion deficiency 1 leukocyte adhesion deficiency liver cancer liver carcinoma liver disease lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma lupus erythematosus lymphoblastic lymphoma lymphoid leukemia lymphoma lymphoproliferative syndrome malignant mesothelioma melanoma mixed glioma monoclonal gammopathy of uncertain significance monocytic leukemia multiple myeloma multiple sclerosis myelitis myeloid leukemia myocardial infarction myocarditis nasopharynx carcinoma neuroblastoma non-Hodgkin lymphoma obsolete ymphosarcoma osteosarcoma ovarian cancer ovarian carcinoma pancreatic cancer pancreatic carcinoma pancytopenia paroxysmal nocturnal hemoglobinuria primary sclerosing cholangitis prolactinoma prostate cancer prostate carcinoma refractory plasma cell neoplasm reticulohistiocytic granuloma reticulosarcoma retinoblastoma rheumatoid arthritis sarcoma sclerosing cholangitis sclerosing hemangioma sebaceous carcinoma silent myocardial infarction skin melanoma spindle cell sarcoma spondyloarthropathy spondylosis squamous cell carcinoma squamous cell neoplasm stomach cancer stomach carcinoma sweat gland cancer systemic lupus erythematosus temporal arteritis thyroid gland anaplastic carcinoma tongue squamous cell carcinoma trilateral retinoblastoma tropical spastic paraparesis tuberculosis tubular adenocarcinoma type 2 diabetes mellitus ulcerative colitis viral infectious disease
6382	syndecan 1	SDC1 Aliases: CD138 SYND1 syndecan syndecan proteoglycan 1	Homo sapiens (human)	B-cell lymphoma Bannayan-Riley-Ruvalcaba syndrome Burkitt lymphoma Cowden syndrome 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, nodular sclerosis Hodgkin's lymphoma IgG4-related disease Kaposi's sarcoma Kawasaki disease POEMS syndrome Richter's syndrome acquired hyperkeratosis acquired immunodeficiency syndrome acrodermatitis actinic keratosis acute myocardial infarction adenocarcinoma adenoid cystic carcinoma adenoma adhesions of uterus adult fibrosarcoma adult liposarcoma adult medulloblastoma allergic contact dermatitis ameloblastoma amyloidosis antithrombin III deficiency aortic valve disease 2 aortic valve stenosis arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease arthritis arthropathy atherosclerosis autoimmune disease autoimmune lymphoproliferative syndrome type 2A autoimmune lymphoproliferative syndrome type 2B autoimmune lymphoproliferative syndrome type 3 autoimmune lymphoproliferative syndrome bacterial infectious disease bacterial sepsis basal cell carcinoma benign mesothelioma benign peritoneal mesothelioma bile duct adenocarcinoma bile duct carcinoma bladder carcinoma bladder urothelial carcinoma blood coagulation disease bone disease bone osteosarcoma breast cancer breast carcinoma breast ductal carcinoma bronchus cancer bronchus carcinoma cancer carcinoma cardiac arrest cartilage disease celiac disease central nervous system cancer central nervous system lymphoma cerebral infarction cerebrovascular disease cervical adenocarcinoma cervical cancer cervix carcinoma childhood liposarcoma childhood medulloblastoma cholangiocarcinoma choriocarcinoma chromophobe renal cell carcinoma chronic fatigue syndrome chronic kidney disease chronic lymphocytic leukemia clear cell adenocarcinoma clear cell renal cell carcinoma colitis collecting duct carcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma common variable immunodeficiency common wart congestive heart failure connective tissue disease coronary artery disease coronary thrombosis craniosynostosis cribriform carcinoma dedifferentiated liposarcoma dermatitis dermoid cyst diabetes mellitus diabetic cataract diabetic retinopathy diffuse large B-cell lymphoma dilated cardiomyopathy 1A dilated cardiomyopathy disseminated intravascular coagulation diverticulitis of colon embryoma encephalitis encephalomyelitis endometrial cancer endometrial carcinoma essential hypertension extramedullary plasmacytoma familial hyperlipidemia familial nephrotic syndrome fibrolamellar carcinoma fibrosarcoma follicular lymphoma gallbladder cancer gallbladder carcinoma gallbladder disease gastroenteritis gastrointestinal system cancer giant cell glioblastoma glioblastoma gliosarcoma glomerulonephritis gonorrhea granular cell carcinoma granular corneal dystrophy 2 hair follicle neoplasm head and neck squamous cell carcinoma heavy chain disease hematologic cancer hepatitis C hepatitis hepatocellular carcinoma high grade glioma human immunodeficiency virus infectious disease hyperglycemia hypertension idiopathic interstitial pneumonia idiopathic pulmonary fibrosis ileitis ileocolitis immune system disease immunoglobulin alpha deficiency impotence inclusion body myositis inflammatory bowel disease 1 inflammatory bowel disease inflammatory breast carcinoma influenza interstitial nephritis intrahepatic cholangiocarcinoma invasive ductal carcinoma keratoacanthoma kidney disease kidney failure large intestine cancer leukemia lipoid nephrosis liposarcoma liver cancer liver cirrhosis liver disease lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lymphoma lymphoproliferative syndrome 1 lymphoproliferative syndrome 2 malaria malignant mesothelioma medulloblastoma medullomyoblastoma melanoma melanotic medulloblastoma mesenchymal cell neoplasm microphthalmia mixed glioma monoclonal gammopathy of uncertain significance monoclonal paraproteinemia multiple myeloma multiple sclerosis myelitis myocardial infarction myoepithelioma nasopharynx carcinoma nephritis nephrosis nephrotic syndrome neuroblastoma neuroendocrine carcinoma neuroendocrine tumor neuromyelitis optica obesity obsolete Matthew-Wood syndrome obsolete constipation obsolete inherited blood coagulation disease obsolete ymphosarcoma optic neuritis osteoarthritis osteosarcoma ovarian cancer ovarian carcinoma pancreatic adenocarcinoma pancreatic cancer pancreatic carcinoma papillary renal cell carcinoma papilloma parapsoriasis peritoneal mesothelioma pilomatrixoma placenta cancer placental insufficiency plasma cell neoplasm plasmacytoma pleomorphic liposarcoma pneumonia polycythemia vera polyp of corpus uteri postinflammatory pulmonary fibrosis pre-eclampsia premature ejaculation primary ciliary dyskinesia 1 primary ciliary dyskinesia primary immunodeficiency disease primary sclerosing cholangitis proliferative diabetic retinopathy prostate cancer prostate carcinoma protein C deficiency protein S deficiency proteinuria psoriasis psychologic dyspareunia pulmonary fibrosis purpura fulminans pustulosis of palm and sole pyelitis pyelonephritis pyoureter refractory plasma cell neoplasm relapsing-remitting multiple sclerosis renal cell carcinoma renal infectious disease renal oncocytoma rheumatoid arthritis salivary gland adenoid cystic carcinoma sarcomatoid carcinoma sarcomatoid renal cell carcinoma scleroderma sclerosing cholangitis sebaceous carcinoma selective IgA deficiency disease silent myocardial infarction skin benign neoplasm skin cancer skin melanoma skin squamous cell carcinoma squamous cell carcinoma squamous cell papilloma stomach cancer stomach carcinoma subacute sclerosing panencephalitis sweat gland cancer systemic Epstein-Barr virus positive T-cell lymphoma of childhood systemic lupus erythematosus systemic scleroderma thrombophilia thyroid adenoma thyroid cancer thyroid gland carcinoma tongue squamous cell carcinoma transitional cell carcinoma tuberculosis tubular adenocarcinoma type 2 diabetes mellitus ulcerative colitis uremia urinary bladder cancer uterine corpus cancer uterus leiomyosarcoma
8644	aldo-keto reductase family 1 member C3	AKR1C3 Aliases: 3-alpha hydroxysteroid dehydrogenase, type II DDX HAKRB KIAA0119 PGFS dihydrodiol dehydrogenase X prostaglandin F synthase	Homo sapiens (human)	B-cell lymphoma B-lymphoblastic leukemia/lymphoma Langerhans-cell histiocytosis T-cell acute lymphoblastic leukemia Zollinger-Ellison syndrome abdominal obesity-metabolic syndrome 1 acrodermatitis acute lymphoblastic leukemia acute myeloid leukemia adenocarcinoma adenoma adenosarcoma adrenal adenoma adrenal carcinoma adrenal cortex cancer adrenocortical carcinoma adult acute lymphocytic leukemia alcohol dependence alcohol use disorder anaplastic astrocytoma androgen insensitivity syndrome anxiety disorder aortic valve insufficiency atopic dermatitis benign mesothelioma bladder carcinoma breast cancer breast carcinoma breast ductal carcinoma bronchus cancer bronchus carcinoma cancer carcinoma castration-resistant prostate carcinoma cervical adenocarcinoma cervical cancer cervix carcinoma childhood acute lymphocytic leukemia childhood cerebral astrocytoma childhood germ cell cancer childhood leukemia choriocarcinoma chromophobe renal cell carcinoma chronic myeloid leukemia cicatricial pemphigoid clear cell renal cell carcinoma collecting duct carcinoma colon cancer colonic benign neoplasm colorectal cancer cribriform carcinoma dermatitis dermoid cyst of ovary dermoid cyst disease of metabolism disorder of sexual development ductal carcinoma in situ embryoma embryonal cancer endometrial adenocarcinoma endometrial cancer endometrial carcinoma endometrial hyperplasia endometriosis of ovary endometriosis of uterus endometriosis epilepsy esophageal cancer esophageal carcinoma essential hypertension fibrillary astrocytoma gemistocytic astrocytoma generalized anxiety disorder germ cell and embryonal cancer germ cell cancer germinoma glaucoma granular cell carcinoma hepatocellular carcinoma hermaphroditism high grade glioma hyperandrogenism hyperinsulinism hypertension juvenile pilocytic astrocytoma kidney cancer large intestine cancer leukemia liver cancer liver carcinoma lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma lymphoma malignant astrocytoma malignant mesothelioma nephroblastoma non-Hodgkin lymphoma nonpapillary renal cell carcinoma obesity obsolete ymphosarcoma ovarian cancer ovarian carcinoma panic disorder papillary renal cell carcinoma papillary transitional carcinoma parapsoriasis parathyroid adenoma parathyroid carcinoma phobic disorder pilocytic astrocytoma placenta cancer polycystic ovary syndrome pre-eclampsia prostate adenocarcinoma prostate cancer prostate carcinoma protoplasmic astrocytoma pseudohermaphroditism psoriasis pustulosis of palm and sole renal carcinoma renal cell carcinoma reticulosarcoma sarcomatoid carcinoma sarcomatoid renal cell carcinoma skin squamous cell carcinoma squamous cell carcinoma stomach cancer stomach carcinoma subependymal giant cell astrocytoma tongue squamous cell carcinoma tubular adenocarcinoma urinary bladder cancer uterine corpus cancer
2526	fucosyltransferase 4	FUT4 Aliases: FUC-TIV alpha (1,3) fucosyltransferase, myeloid-specific galactoside 3-L-fucosyltransferase	Homo sapiens (human)	B-cell adult acute lymphocytic leukemia Barrett's esophagus Burkitt lymphoma Castleman disease Hodgkin's granuloma Hodgkin's lymphoma, lymphocytic depletion Hodgkin's lymphoma, lymphocytic-histiocytic predominance Hodgkin's lymphoma, mixed cellularity Hodgkin's lymphoma Kimura disease Leber congenital amaurosis 1 T-cell acute lymphoblastic leukemia acute biphenotypic leukemia acute leukemia acute lymphoblastic leukemia acute monocytic leukemia acute myeloid leukemia acute myocardial infarction acute promyelocytic leukemia adenocarcinoma adenoma adenosarcoma adult T-cell leukemia/lymphoma adult acute lymphocytic leukemia adult medulloblastoma arthropathy autosomal recessive distal hereditary motor neuronopathy 1 bacterial sepsis benign mesothelioma benign peritoneal mesothelioma beta thalassemia bladder carcinoma bladder urothelial carcinoma bone marrow cancer brain cancer breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer candidiasis carcinoma cardiomyopathy celiac disease central nervous system cancer chancroid childhood B-cell acute lymphoblastic leukemia childhood acute lymphocytic leukemia childhood leukemia childhood medulloblastoma chromophobe renal cell carcinoma chronic monocytic leukemia chronic myeloid leukemia chronic myelomonocytic leukemia clear cell adenocarcinoma clear cell renal cell carcinoma collecting duct carcinoma colon adenocarcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma congenital disorder of glycosylation type II congenital disorder of glycosylation type IIc coronary thrombosis cribriform carcinoma cystic fibrosis embryoma embryonal carcinoma endometrial adenocarcinoma endomyocardial fibrosis esophagus squamous cell carcinoma essential thrombocythemia familial adenomatous polyposis 1 familial adenomatous polyposis familial medullary thyroid carcinoma follicular adenoma gastric ulcer gastritis gastrointestinal system cancer giant cell glioblastoma glioblastoma gliosarcoma granular cell carcinoma head and neck squamous cell carcinoma hepatocellular carcinoma high grade glioma hypertrophic cardiomyopathy inflammatory bowel disease 1 inflammatory bowel disease islet cell tumor juvenile myelomonocytic leukemia large intestine cancer laryngeal carcinoma larynx cancer leptospirosis leukemia leukocyte adhesion deficiency 2 leukocyte adhesion deficiency liver cancer lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma lymphoblastic lymphoma lymphogranuloma venereum malignant mesothelioma medulloblastoma medullomyoblastoma melanoma melanotic medulloblastoma microcystic adenoma microphthalmia mixed glioma monoclonal gammopathy of uncertain significance multiple endocrine neoplasia type 1 multiple endocrine neoplasia type 2A mycosis fungoides myelodysplastic syndrome myeloproliferative neoplasm myocardial infarction myocarditis necrotizing ulcerative gingivitis nephroblastoma neuromyelitis optica nonpapillary renal cell carcinoma obsolete Matthew-Wood syndrome obsolete T-cell lymphoblastic leukemia/lymphoma obsolete leukocyte-adhesion deficiency syndrome osteoarthritis pancreatic cancer pancreatic carcinoma papillary adenocarcinoma papillary adenoma papillary carcinoma papillary renal cell carcinoma paroxysmal nocturnal hemoglobinuria peptic ulcer disease peritoneal mesothelioma primary mediastinal B-cell lymphoma prostate cancer prostate carcinoma renal carcinoma renal cell carcinoma rheumatoid arthritis sarcomatoid carcinoma sarcomatoid renal cell carcinoma septic arthritis silent myocardial infarction skin melanoma squamous cell carcinoma steatotic liver disease stomach cancer stomach carcinoma teratocarcinoma thrombosis thyroid gland medullary carcinoma thyroid gland papillary carcinoma tongue squamous cell carcinoma tubular adenocarcinoma ulcerative colitis urinary bladder cancer yaws
933	CD22 molecule	CD22 Aliases: SIGLEC-2 SIGLEC2 sialic acid binding Ig-like lectin 2	Homo sapiens (human)	B-cell adult acute lymphocytic leukemia B-cell lymphoma Burkitt lymphoma CREST syndrome HCL-V Langerhans-cell histiocytosis Niemann-Pick disease type C1 Niemann-Pick disease Richter's syndrome T-cell acute lymphoblastic leukemia X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia abdominal aortic aneurysm acute biphenotypic leukemia acute leukemia acute lymphoblastic leukemia acute myeloid leukemia adrenal carcinoma adrenal cortex cancer adrenocortical carcinoma adult acute lymphocytic leukemia adult lymphoma arthritis arthropathy arthus reaction autoimmune disease autoimmune lymphoproliferative syndrome type 2A autoimmune lymphoproliferative syndrome type 2B autoimmune lymphoproliferative syndrome type 3 autoimmune lymphoproliferative syndrome bacterial sepsis bone disease breast cancer breast carcinoma bronchus cancer bronchus carcinoma bullous pemphigoid cancer capillary leak syndrome cartilage disease central nervous system lymphoma childhood B-cell acute lymphoblastic leukemia childhood acute lymphocytic leukemia childhood leukemia childhood lymphoma chronic lymphocytic leukemia collagen disease connective tissue disease diffuse large B-cell lymphoma disease of mental health embryoma enthesopathy essential thrombocythemia fibromyalgia giant cell glioblastoma glioblastoma hairy cell leukemia hematologic cancer hemolytic-uremic syndrome hepatic veno-occlusive disease hepatocellular carcinoma high grade glioma hypersensitivity reaction type III disease immune system disease interstitial lung disease leukemia limited scleroderma liver cancer lung benign neoplasm lung cancer lung carcinoma lymphoblastic lymphoma lymphoid leukemia lymphoma lymphoplasmacytic lymphoma lymphoproliferative syndrome 1 lymphoproliferative syndrome 2 macroglobulinemia melanoma multiple myeloma myelodysplastic syndrome myeloid leukemia non-Hodgkin lymphoma obsolete lymphoplasmacytic lymphoma obsolete ymphosarcoma primary cutaneous T-cell non-Hodgkin lymphoma psychotic disorder refractory hairy cell leukemia reticulosarcoma rheumatoid arthritis scleroderma skin melanoma systemic Epstein-Barr virus positive T-cell lymphoma of childhood systemic lupus erythematosus systemic scleroderma vasculitis
145173	beta 3-glucosyltransferase	B3GLCT Aliases: B3GTL B3Glc-T beta-1,3-glucosyltransferase	Homo sapiens (human)	Axenfeld-Rieger syndrome IGSF1 deficiency syndrome Klippel-Feil syndrome Kuhnt-Junius degeneration Meckel syndrome Peters anomaly Peters plus syndrome Tn polyagglutination syndrome age related macular degeneration anemia atrial heart septal defect 1 atrial heart septal defect 2 atrial heart septal defect 3 atrial heart septal defect 4 atrial heart septal defect 5 atrial heart septal defect 6 atrial heart septal defect 7 atrial heart septal defect 8 atrial heart septal defect 9 atrial heart septal defect autism spectrum disorder autistic disorder autosomal dominant polycystic kidney disease blindness cataract cerebral degeneration cleft lip cleft palate coloboma communicating hydrocephalus congenital hypothyroidism congenital nongoitrous hypothyroidism 1 congenital nongoitrous hypothyroidism 2 congenital nongoitrous hypothyroidism 3 congenital nongoitrous hypothyroidism 4 congenital nongoitrous hypothyroidism 5 congenital nongoitrous hypothyroidism 6 congenital nystagmus congenital ptosis cornea plana craniosynostosis cryptorchidism degeneration of macula and posterior pole depressive disorder dissociated nystagmus epilepsy eye disease glaucoma heart septal defect hydrocephalus hydronephrosis hypoplastic left heart syndrome hypospadias hypothyroidism imperforate anus inguinal hernia intellectual disability isolated cleft palate learning disability macrocytic anemia macular degeneration major depressive disorder melancholic depression microcephaly myopia myxedema obsolete melancholia obstructive hydrocephalus omphalocele optic atrophy patent ductus arteriosus patent foramen ovale pathologic nystagmus placental insufficiency polyhydramnios popliteal pterygium syndrome ptosis pulmonary valve stenosis recurrent corneal erosion renal hypoplasia scoliosis senile degeneration of brain sensorineural hearing loss spina bifida occulta spondylolisthesis spontaneous ocular nystagmus syndactyly trichohepatoenteric syndrome 1 trichohepatoenteric syndrome umbilical hernia ventricular septal defect visual epilepsy
729920	CDP-L-ribitol pyrophosphorylase A	CRPPA Aliases: 4-diphosphocytidyl-2C-methyl-D-erythritol synthase homolog (Arabidopsis) D-ribitol-5-phosphate cytidylyltransferase IspD Nip hCG_1745121 notch1-induced protein	Homo sapiens (human)	Axenfeld-Rieger syndrome Dandy-Walker syndrome Duchenne muscular dystrophy Fukuyama congenital muscular dystrophy Joubert syndrome Miller-Dieker lissencephaly syndrome Peters anomaly Walker-Warburg syndrome agnosia anemia autosomal dominant Emery-Dreifuss muscular dystrophy 2 autosomal dominant limb-girdle muscular dystrophy type 1 autosomal dominant limb-girdle muscular dystrophy type 1H autosomal dominant limb-girdle muscular dystrophy type 2 autosomal dominant limb-girdle muscular dystrophy type 3 autosomal dominant limb-girdle muscular dystrophy autosomal recessive limb-girdle muscular dystrophy type 2A autosomal recessive limb-girdle muscular dystrophy type 2B autosomal recessive limb-girdle muscular dystrophy type 2C autosomal recessive limb-girdle muscular dystrophy type 2D autosomal recessive limb-girdle muscular dystrophy type 2E autosomal recessive limb-girdle muscular dystrophy type 2F autosomal recessive limb-girdle muscular dystrophy type 2G autosomal recessive limb-girdle muscular dystrophy type 2H autosomal recessive limb-girdle muscular dystrophy type 2I autosomal recessive limb-girdle muscular dystrophy type 2J autosomal recessive limb-girdle muscular dystrophy type 2K autosomal recessive limb-girdle muscular dystrophy type 2L autosomal recessive limb-girdle muscular dystrophy type 2M autosomal recessive limb-girdle muscular dystrophy type 2N autosomal recessive limb-girdle muscular dystrophy type 2O autosomal recessive limb-girdle muscular dystrophy type 2P autosomal recessive limb-girdle muscular dystrophy type 2Q autosomal recessive limb-girdle muscular dystrophy type 2S autosomal recessive limb-girdle muscular dystrophy type 2T autosomal recessive limb-girdle muscular dystrophy type 2U autosomal recessive limb-girdle muscular dystrophy type 2Y autosomal recessive limb-girdle muscular dystrophy bilateral optic nerve hypoplasia cataract chromophobe renal cell carcinoma clear cell renal cell carcinoma collecting duct carcinoma coloboma communicating hydrocephalus complex cortical dysplasia with other brain malformations 1 complex cortical dysplasia with other brain malformations 7 congenital muscular dystrophy due to integrin alpha-7 deficiency congenital muscular dystrophy-dystroglycanopathy A7 congenital muscular dystrophy-dystroglycanopathy type A1 congenital muscular dystrophy-dystroglycanopathy type A8 congenital muscular dystrophy cornea plana cortical dysplasia-focal epilepsy syndrome cryptorchidism developmental coordination disorder distal myopathy epilepsy facioscapulohumeral muscular dystrophy familial periodic paralysis fibromyalgia fundus dystrophy glaucoma hydranencephaly hydrocephalus intellectual disability isolated elevated serum creatine phosphokinase levels learning disability limb-girdle muscular dystrophy lissencephaly macrocytic anemia microcephaly microphthalmia muscular dystrophy-dystroglycanopathy type B1 muscular dystrophy myofibrillar myopathy 1 myofibrillar myopathy 3 myopathy myositis nonpapillary renal cell carcinoma 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 obstructive hydrocephalus oculopharyngeal muscular dystrophy optic atrophy papillary renal cell carcinoma persistent hyperplastic primary vitreous pneumonia pontocerebellar hypoplasia type 2D pontocerebellar hypoplasia type 7 pontocerebellar hypoplasia type 8 pontocerebellar hypoplasia type 9 recurrent corneal erosion renal carcinoma renal cell carcinoma retinal detachment rippling muscle disease 2 sarcomatoid renal cell carcinoma scoliosis senile degeneration of brain septooptic dysplasia short-rib thoracic dysplasia 14 with polydactyly syndromic X-linked intellectual disability Najm type visual epilepsy
2218	fukutin	FKTN Aliases: LGMD2M	Homo sapiens (human)	Axenfeld-Rieger syndrome Dandy-Walker syndrome Duchenne muscular dystrophy Fukuyama congenital muscular dystrophy Joubert syndrome Miller-Dieker lissencephaly syndrome Peters anomaly Walker-Warburg syndrome X-linked dilated cardiomyopathy agnosia anaplastic astrocytoma atrial heart septal defect 1 atrial heart septal defect 2 atrial heart septal defect 3 atrial heart septal defect 4 atrial heart septal defect 5 atrial heart septal defect 6 atrial heart septal defect 7 atrial heart septal defect 8 atrial heart septal defect 9 atrial heart septal defect autosomal dominant Emery-Dreifuss muscular dystrophy 2 autosomal dominant limb-girdle muscular dystrophy type 1 autosomal dominant limb-girdle muscular dystrophy type 1H autosomal dominant limb-girdle muscular dystrophy type 2 autosomal dominant limb-girdle muscular dystrophy type 3 autosomal dominant limb-girdle muscular dystrophy autosomal recessive limb-girdle muscular dystrophy type 2A autosomal recessive limb-girdle muscular dystrophy type 2B autosomal recessive limb-girdle muscular dystrophy type 2C autosomal recessive limb-girdle muscular dystrophy type 2D autosomal recessive limb-girdle muscular dystrophy type 2E autosomal recessive limb-girdle muscular dystrophy type 2F autosomal recessive limb-girdle muscular dystrophy type 2G autosomal recessive limb-girdle muscular dystrophy type 2H autosomal recessive limb-girdle muscular dystrophy type 2I autosomal recessive limb-girdle muscular dystrophy type 2J autosomal recessive limb-girdle muscular dystrophy type 2K autosomal recessive limb-girdle muscular dystrophy type 2L autosomal recessive limb-girdle muscular dystrophy type 2M autosomal recessive limb-girdle muscular dystrophy type 2N autosomal recessive limb-girdle muscular dystrophy type 2O autosomal recessive limb-girdle muscular dystrophy type 2P autosomal recessive limb-girdle muscular dystrophy type 2Q autosomal recessive limb-girdle muscular dystrophy type 2S autosomal recessive limb-girdle muscular dystrophy type 2T autosomal recessive limb-girdle muscular dystrophy type 2U autosomal recessive limb-girdle muscular dystrophy type 2Y autosomal recessive limb-girdle muscular dystrophy bilateral optic nerve hypoplasia blindness breast cancer buphthalmos campomelic dysplasia cancer cardiomyopathy cataract centronuclear myopathy childhood cerebral astrocytoma cleft lip cleft palate coloboma communicating hydrocephalus complex cortical dysplasia with other brain malformations 1 complex cortical dysplasia with other brain malformations 7 congenital generalized lipodystrophy type 1 congenital generalized lipodystrophy type 2 congenital generalized lipodystrophy type 3 congenital generalized lipodystrophy type 4 congenital merosin-deficient muscular dystrophy 1A congenital muscular dystrophy 1B congenital muscular dystrophy due to LMNA mutation congenital muscular dystrophy due to integrin alpha-7 deficiency congenital muscular dystrophy-dystroglycanopathy type A1 congenital muscular dystrophy congenital myopathy 1A congenital myopathy 4A congenital structural myopathy congestive heart failure cornea plana cortical dysplasia-focal epilepsy syndrome craniometaphyseal dysplasia craniosynostosis cryptorchidism developmental coordination disorder dextro-looped transposition of the great arteries dilated cardiomyopathy 1A dilated cardiomyopathy 1AA dilated cardiomyopathy 1B dilated cardiomyopathy 1BB dilated cardiomyopathy 1C dilated cardiomyopathy 1CC dilated cardiomyopathy 1D dilated cardiomyopathy 1DD dilated cardiomyopathy 1E dilated cardiomyopathy 1EE dilated cardiomyopathy 1FF dilated cardiomyopathy 1G dilated cardiomyopathy 1GG dilated cardiomyopathy 1H dilated cardiomyopathy 1HH dilated cardiomyopathy 1I dilated cardiomyopathy 1II dilated cardiomyopathy 1JJ dilated cardiomyopathy 1K dilated cardiomyopathy 1KK dilated cardiomyopathy 1L dilated cardiomyopathy 1M dilated cardiomyopathy 1NN dilated cardiomyopathy 1O dilated cardiomyopathy 1P dilated cardiomyopathy 1Q dilated cardiomyopathy 1R dilated cardiomyopathy 1S dilated cardiomyopathy 1T dilated cardiomyopathy 1U dilated cardiomyopathy 1V dilated cardiomyopathy 1W dilated cardiomyopathy 1X dilated cardiomyopathy 1Y dilated cardiomyopathy 1Z dilated cardiomyopathy 2A dilated cardiomyopathy 2B dilated cardiomyopathy distal myopathy embryoma endomyocardial fibrosis epilepsy facioscapulohumeral muscular dystrophy familial hypertrophic cardiomyopathy familial periodic paralysis fibrillary astrocytoma fibromyalgia fundus dystrophy gallbladder cancer gallbladder carcinoma gemistocytic astrocytoma glaucoma high grade glioma holoprosencephaly 1 holoprosencephaly hydranencephaly hydrocephalus hydrophthalmos hyperopia hypertrophic cardiomyopathy hypertropia imperforate anus intellectual disability isolated cleft palate isolated elevated serum creatine phosphokinase levels juvenile pilocytic astrocytoma learning disability limb-girdle muscular dystrophy lipoatrophic diabetes mellitus lipodystrophy lissencephaly malignant astrocytoma mechanical strabismus megaconial type congenital muscular dystrophy megalocornea meningocele microcephaly microphthalmia multiple types of congenital heart defects 6 muscular dystrophy-dystroglycanopathy type B1 muscular dystrophy-dystroglycanopathy type B4 muscular dystrophy-dystroglycanopathy type B5 muscular dystrophy-dystroglycanopathy type B6 muscular dystrophy myocarditis myofibrillar myopathy 1 myofibrillar myopathy 3 myopathy myopia myositis nemaline myopathy nonepidermolytic palmoplantar keratoderma 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 dextro-looped transposition of the great arteries 1 obstructive hydrocephalus oculopharyngeal muscular dystrophy ophthalmoplegia optic atrophy palmoplantar keratosis patent foramen ovale peripheral retinal degeneration pilocytic astrocytoma placental insufficiency pontocerebellar hypoplasia type 2D pontocerebellar hypoplasia type 7 pontocerebellar hypoplasia type 8 pontocerebellar hypoplasia type 9 protoplasmic astrocytoma pulmonary valve stenosis recurrent corneal erosion renal agenesis retinal detachment rigid spine muscular dystrophy 1 rippling muscle disease 2 scoliosis senile degeneration of brain sensorineural hearing loss septooptic dysplasia short-rib thoracic dysplasia 14 with polydactyly speech disorder stomach cancer stomach carcinoma strabismus subependymal giant cell astrocytoma syndromic X-linked intellectual disability 94 syndromic X-linked intellectual disability Najm type visual epilepsy
10585	protein O-mannosyltransferase 1	POMT1 Aliases: LGMD2K dolichyl-phosphate-mannose-protein mannosyltransferase	Homo sapiens (human)	Axenfeld-Rieger syndrome Bell's palsy Dandy-Walker syndrome Duchenne muscular dystrophy Fukuyama congenital muscular dystrophy Joubert syndrome Marfan syndrome Miller-Dieker lissencephaly syndrome Peters anomaly Walker-Warburg syndrome agnosia autosomal dominant Emery-Dreifuss muscular dystrophy 2 autosomal dominant limb-girdle muscular dystrophy type 1 autosomal dominant limb-girdle muscular dystrophy type 1H autosomal dominant limb-girdle muscular dystrophy type 2 autosomal dominant limb-girdle muscular dystrophy type 3 autosomal dominant limb-girdle muscular dystrophy autosomal recessive limb-girdle muscular dystrophy type 2A autosomal recessive limb-girdle muscular dystrophy type 2B autosomal recessive limb-girdle muscular dystrophy type 2C autosomal recessive limb-girdle muscular dystrophy type 2D autosomal recessive limb-girdle muscular dystrophy type 2E autosomal recessive limb-girdle muscular dystrophy type 2F autosomal recessive limb-girdle muscular dystrophy type 2G autosomal recessive limb-girdle muscular dystrophy type 2H autosomal recessive limb-girdle muscular dystrophy type 2I autosomal recessive limb-girdle muscular dystrophy type 2J autosomal recessive limb-girdle muscular dystrophy type 2K autosomal recessive limb-girdle muscular dystrophy type 2L autosomal recessive limb-girdle muscular dystrophy type 2M autosomal recessive limb-girdle muscular dystrophy type 2N autosomal recessive limb-girdle muscular dystrophy type 2O autosomal recessive limb-girdle muscular dystrophy type 2P autosomal recessive limb-girdle muscular dystrophy type 2Q autosomal recessive limb-girdle muscular dystrophy type 2S autosomal recessive limb-girdle muscular dystrophy type 2T autosomal recessive limb-girdle muscular dystrophy type 2U autosomal recessive limb-girdle muscular dystrophy type 2Y autosomal recessive limb-girdle muscular dystrophy bilateral optic nerve hypoplasia blindness brain cancer brain disease buphthalmos campomelic dysplasia cardiomyopathy cataract centronuclear myopathy cleft lip cleft palate clubfoot coloboma communicating hydrocephalus complex cortical dysplasia with other brain malformations 1 complex cortical dysplasia with other brain malformations 7 cone-rod dystrophy congenital merosin-deficient muscular dystrophy 1A congenital muscular dystrophy 1B congenital muscular dystrophy due to LMNA mutation congenital muscular dystrophy due to integrin alpha-7 deficiency congenital muscular dystrophy-dystroglycanopathy type A1 congenital muscular dystrophy congenital myopathy 1A congenital myopathy 4A congenital structural myopathy cornea plana cortical dysplasia-focal epilepsy syndrome craniometaphyseal dysplasia cryptorchidism developmental coordination disorder distal myopathy endomyocardial fibrosis epilepsy facial nerve disease facial paralysis facioscapulohumeral muscular dystrophy familial periodic paralysis fibromyalgia fundus albipunctatus fundus dystrophy glaucoma holoprosencephaly 1 holoprosencephaly hydranencephaly hydrocephalus hydrophthalmos hypertrophic cardiomyopathy hypertropia imperforate anus intellectual disability isolated cleft palate isolated elevated serum creatine phosphokinase levels learning disability limb-girdle muscular dystrophy lissencephaly locked-in syndrome mechanical strabismus megaconial type congenital muscular dystrophy megalocornea meningocele microcephaly microphthalmia muscular dystrophy-dystroglycanopathy type B1 muscular dystrophy-dystroglycanopathy type B5 muscular dystrophy-dystroglycanopathy type B6 muscular dystrophy-dystroglycanopathy muscular dystrophy myofibrillar myopathy 1 myofibrillar myopathy 3 myopathy myopia myositis nemaline myopathy neuromuscular disease 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 obstructive hydrocephalus oculopharyngeal muscular dystrophy oligohydramnios ophthalmoplegia optic atrophy peripheral retinal degeneration placental insufficiency pontocerebellar hypoplasia type 2D pontocerebellar hypoplasia type 7 pontocerebellar hypoplasia type 8 pontocerebellar hypoplasia type 9 quadriplegia recurrent corneal erosion renal agenesis retinal detachment retinitis pigmentosa rigid spine muscular dystrophy 1 rippling muscle disease 2 scoliosis senile degeneration of brain sensorineural hearing loss septooptic dysplasia short-rib thoracic dysplasia 14 with polydactyly situs inversus speech disorder strabismus syndromic X-linked intellectual disability 94 syndromic X-linked intellectual disability Najm type tuberous sclerosis visual epilepsy
29954	protein O-mannosyltransferase 2	POMT2 Aliases: Dolichyl-phosphate-mannose--protein mannosyltransferase LGMD2N	Homo sapiens (human)	Axenfeld-Rieger syndrome Bell's palsy Dandy-Walker syndrome Duchenne muscular dystrophy Fukuyama congenital muscular dystrophy Joubert syndrome Marfan syndrome Miller-Dieker lissencephaly syndrome Peters anomaly Walker-Warburg syndrome X-linked dilated cardiomyopathy agnosia autosomal dominant Emery-Dreifuss muscular dystrophy 2 autosomal dominant limb-girdle muscular dystrophy type 1 autosomal dominant limb-girdle muscular dystrophy type 1H autosomal dominant limb-girdle muscular dystrophy type 2 autosomal dominant limb-girdle muscular dystrophy type 3 autosomal dominant limb-girdle muscular dystrophy autosomal recessive limb-girdle muscular dystrophy type 2A autosomal recessive limb-girdle muscular dystrophy type 2B autosomal recessive limb-girdle muscular dystrophy type 2C autosomal recessive limb-girdle muscular dystrophy type 2D autosomal recessive limb-girdle muscular dystrophy type 2E autosomal recessive limb-girdle muscular dystrophy type 2F autosomal recessive limb-girdle muscular dystrophy type 2G autosomal recessive limb-girdle muscular dystrophy type 2H autosomal recessive limb-girdle muscular dystrophy type 2I autosomal recessive limb-girdle muscular dystrophy type 2J autosomal recessive limb-girdle muscular dystrophy type 2K autosomal recessive limb-girdle muscular dystrophy type 2L autosomal recessive limb-girdle muscular dystrophy type 2M autosomal recessive limb-girdle muscular dystrophy type 2N autosomal recessive limb-girdle muscular dystrophy type 2O autosomal recessive limb-girdle muscular dystrophy type 2P autosomal recessive limb-girdle muscular dystrophy type 2Q autosomal recessive limb-girdle muscular dystrophy type 2S autosomal recessive limb-girdle muscular dystrophy type 2T autosomal recessive limb-girdle muscular dystrophy type 2U autosomal recessive limb-girdle muscular dystrophy type 2Y autosomal recessive limb-girdle muscular dystrophy bilateral optic nerve hypoplasia blindness buphthalmos campomelic dysplasia cancer cataract cleft lip cleft palate coloboma communicating hydrocephalus complex cortical dysplasia with other brain malformations 1 complex cortical dysplasia with other brain malformations 7 cone-rod dystrophy congenital muscular dystrophy-dystroglycanopathy type A1 congenital muscular dystrophy-dystroglycanopathy type A2 congenital muscular dystrophy cornea plana cortical dysplasia-focal epilepsy syndrome craniometaphyseal dysplasia cryptorchidism cystic kidney disease developmental coordination disorder dilated cardiomyopathy 1AA dilated cardiomyopathy 1B dilated cardiomyopathy 1BB dilated cardiomyopathy 1C dilated cardiomyopathy 1CC dilated cardiomyopathy 1D dilated cardiomyopathy 1DD dilated cardiomyopathy 1E dilated cardiomyopathy 1EE dilated cardiomyopathy 1FF dilated cardiomyopathy 1G dilated cardiomyopathy 1GG dilated cardiomyopathy 1H dilated cardiomyopathy 1HH dilated cardiomyopathy 1I dilated cardiomyopathy 1II dilated cardiomyopathy 1JJ dilated cardiomyopathy 1K dilated cardiomyopathy 1KK dilated cardiomyopathy 1L dilated cardiomyopathy 1M dilated cardiomyopathy 1NN dilated cardiomyopathy 1O dilated cardiomyopathy 1P dilated cardiomyopathy 1Q dilated cardiomyopathy 1R dilated cardiomyopathy 1S dilated cardiomyopathy 1T dilated cardiomyopathy 1U dilated cardiomyopathy 1V dilated cardiomyopathy 1W dilated cardiomyopathy 1X dilated cardiomyopathy 1Y dilated cardiomyopathy 1Z dilated cardiomyopathy 2A dilated cardiomyopathy 2B dilated cardiomyopathy distal myopathy embryoma epilepsy facial nerve disease facial paralysis facioscapulohumeral muscular dystrophy familial periodic paralysis fundus albipunctatus glaucoma holoprosencephaly 1 holoprosencephaly hydranencephaly hydrocephalus hydrophthalmos hyperopia hypertropia imperforate anus intellectual disability isolated cleft palate isolated elevated serum creatine phosphokinase levels learning disability limb-girdle muscular dystrophy lissencephaly mechanical strabismus megalocornea meningocele microcephaly microphthalmia muscular dystrophy-dystroglycanopathy type B1 muscular dystrophy-dystroglycanopathy type B2 muscular dystrophy-dystroglycanopathy muscular dystrophy myofibrillar myopathy 1 myofibrillar myopathy 3 myopathy myopia 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 obstructive hydrocephalus oculopharyngeal muscular dystrophy ophthalmoplegia optic atrophy peripheral retinal degeneration pontocerebellar hypoplasia type 2D pontocerebellar hypoplasia type 7 pontocerebellar hypoplasia type 8 pontocerebellar hypoplasia type 9 recurrent corneal erosion renal agenesis retinal detachment retinitis pigmentosa rippling muscle disease 2 scoliosis senile degeneration of brain septooptic dysplasia short-rib thoracic dysplasia 14 with polydactyly situs inversus speech disorder strabismus syndromic X-linked intellectual disability 94 syndromic X-linked intellectual disability Najm type tuberous sclerosis visual epilepsy
9215	LARGE xylosyl- and glucuronyltransferase 1	LARGE1 Aliases: KIAA0609 like-acetylglucosaminyltransferase	Homo sapiens (human)	Axenfeld-Rieger syndrome Becker muscular dystrophy Bell's palsy Dandy-Walker syndrome Duchenne muscular dystrophy Fukuyama congenital muscular dystrophy Joubert syndrome Laron syndrome Miller-Dieker lissencephaly syndrome Peters anomaly Walker-Warburg syndrome achondroplasia acoustic neuroma agnosia amphetamine abuse angiomatous meningioma atypical chronic myeloid leukemia, BCR-ABL1 negative autosomal dominant Emery-Dreifuss muscular dystrophy 2 autosomal dominant limb-girdle muscular dystrophy type 1 autosomal dominant limb-girdle muscular dystrophy type 1H autosomal dominant limb-girdle muscular dystrophy type 2 autosomal dominant limb-girdle muscular dystrophy type 3 autosomal dominant limb-girdle muscular dystrophy autosomal recessive limb-girdle muscular dystrophy type 2A autosomal recessive limb-girdle muscular dystrophy type 2B autosomal recessive limb-girdle muscular dystrophy type 2C autosomal recessive limb-girdle muscular dystrophy type 2D autosomal recessive limb-girdle muscular dystrophy type 2E autosomal recessive limb-girdle muscular dystrophy type 2F autosomal recessive limb-girdle muscular dystrophy type 2G autosomal recessive limb-girdle muscular dystrophy type 2H autosomal recessive limb-girdle muscular dystrophy type 2I autosomal recessive limb-girdle muscular dystrophy type 2J autosomal recessive limb-girdle muscular dystrophy type 2K autosomal recessive limb-girdle muscular dystrophy type 2L autosomal recessive limb-girdle muscular dystrophy type 2M autosomal recessive limb-girdle muscular dystrophy type 2N autosomal recessive limb-girdle muscular dystrophy type 2O autosomal recessive limb-girdle muscular dystrophy type 2P autosomal recessive limb-girdle muscular dystrophy type 2Q autosomal recessive limb-girdle muscular dystrophy type 2S autosomal recessive limb-girdle muscular dystrophy type 2T autosomal recessive limb-girdle muscular dystrophy type 2U autosomal recessive limb-girdle muscular dystrophy type 2Y autosomal recessive limb-girdle muscular dystrophy benign meningioma bilateral optic nerve hypoplasia blindness buphthalmos cancer cataract centronuclear myopathy cerebral convexity meningioma chronic monocytic leukemia clear cell meningioma cleft lip cleft palate coloboma communicating hydrocephalus complex cortical dysplasia with other brain malformations 1 complex cortical dysplasia with other brain malformations 7 cone-rod dystrophy congenital merosin-deficient muscular dystrophy 1A congenital muscular dystrophy 1B congenital muscular dystrophy due to LMNA mutation congenital muscular dystrophy due to integrin alpha-7 deficiency congenital muscular dystrophy-dystroglycanopathy type A1 congenital muscular dystrophy-dystroglycanopathy type A6 congenital muscular dystrophy congenital myopathy 1A congenital myopathy 4A congenital structural myopathy cornea plana cortical dysplasia-focal epilepsy syndrome cryptorchidism depressive disorder developmental coordination disorder diabetes mellitus dissociated nystagmus distal myopathy endomyocardial fibrosis epilepsy facial nerve disease facial paralysis facioscapulohumeral muscular dystrophy 1 facioscapulohumeral muscular dystrophy familial periodic paralysis fibrous meningioma fundus albipunctatus fundus dystrophy glaucoma hepatocellular carcinoma holoprosencephaly 1 holoprosencephaly hydranencephaly hydrocephalus hydrophthalmos hypertropia idiopathic scoliosis imperforate anus intellectual disability intraorbital meningioma intraventricular meningioma isolated cleft palate isolated elevated serum creatine phosphokinase levels learning disability limb-girdle muscular dystrophy lissencephaly liver cancer lymphoid leukemia lymphoplasmacyte-rich meningioma major depressive disorder mechanical strabismus megaconial type congenital muscular dystrophy megalocornea melancholic depression meningioma meningocele meningothelial meningioma microcephaly microcystic meningioma microphthalmia muscular dystrophy-dystroglycanopathy type B1 muscular dystrophy-dystroglycanopathy type B5 muscular dystrophy-dystroglycanopathy type B6 muscular dystrophy myeloid leukemia myofibrillar myopathy 1 myofibrillar myopathy 3 myopathy myopia nemaline myopathy 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 melancholia obstructive hydrocephalus oculopharyngeal muscular dystrophy olfactory groove meningioma ophthalmoplegia optic atrophy parasagittal meningioma pathologic nystagmus peripheral retinal degeneration pituitary adenoma pontocerebellar hypoplasia type 2D pontocerebellar hypoplasia type 7 pontocerebellar hypoplasia type 8 pontocerebellar hypoplasia type 9 psammomatous meningioma recurrent corneal erosion renal agenesis retinal detachment retinitis pigmentosa rhabdomyosarcoma rigid spine muscular dystrophy 1 rippling muscle disease 2 scoliosis secretory meningioma senile degeneration of brain septooptic dysplasia short-rib thoracic dysplasia 14 with polydactyly speech disorder spinal meningioma spontaneous ocular nystagmus strabismus syndromic X-linked intellectual disability 94 syndromic X-linked intellectual disability Najm type transitional meningioma type 2 diabetes mellitus visual epilepsy
79147	fukutin related protein	FKRP Aliases: FKTR LGMD2I MDC1C	Homo sapiens (human)	Axenfeld-Rieger syndrome Becker muscular dystrophy Bell's palsy Bethlem myopathy Dandy-Walker syndrome Duchenne muscular dystrophy Fukuyama congenital muscular dystrophy Joubert syndrome Miller-Dieker lissencephaly syndrome Peters anomaly Richter's syndrome Walker-Warburg syndrome X-linked dilated cardiomyopathy agnosia amnestic disorder autosomal dominant Emery-Dreifuss muscular dystrophy 2 autosomal dominant limb-girdle muscular dystrophy type 1 autosomal dominant limb-girdle muscular dystrophy type 1H autosomal dominant limb-girdle muscular dystrophy type 2 autosomal dominant limb-girdle muscular dystrophy type 3 autosomal dominant limb-girdle muscular dystrophy autosomal recessive limb-girdle muscular dystrophy type 2A autosomal recessive limb-girdle muscular dystrophy type 2B autosomal recessive limb-girdle muscular dystrophy type 2C autosomal recessive limb-girdle muscular dystrophy type 2D autosomal recessive limb-girdle muscular dystrophy type 2E autosomal recessive limb-girdle muscular dystrophy type 2F autosomal recessive limb-girdle muscular dystrophy type 2G autosomal recessive limb-girdle muscular dystrophy type 2H autosomal recessive limb-girdle muscular dystrophy type 2I autosomal recessive limb-girdle muscular dystrophy type 2J autosomal recessive limb-girdle muscular dystrophy type 2K autosomal recessive limb-girdle muscular dystrophy type 2L autosomal recessive limb-girdle muscular dystrophy type 2M autosomal recessive limb-girdle muscular dystrophy type 2N autosomal recessive limb-girdle muscular dystrophy type 2O autosomal recessive limb-girdle muscular dystrophy type 2P autosomal recessive limb-girdle muscular dystrophy type 2Q autosomal recessive limb-girdle muscular dystrophy type 2S autosomal recessive limb-girdle muscular dystrophy type 2T autosomal recessive limb-girdle muscular dystrophy type 2U autosomal recessive limb-girdle muscular dystrophy type 2Y autosomal recessive limb-girdle muscular dystrophy bilateral optic nerve hypoplasia blindness buphthalmos campomelic dysplasia cardiomyopathy cataract catecholaminergic polymorphic ventricular tachycardia 1 catecholaminergic polymorphic ventricular tachycardia 2 catecholaminergic polymorphic ventricular tachycardia 3 catecholaminergic polymorphic ventricular tachycardia 4 catecholaminergic polymorphic ventricular tachycardia 5 catecholaminergic polymorphic ventricular tachycardia central nervous system origin vertigo centronuclear myopathy chronic lymphocytic leukemia cleft lip cleft palate coloboma communicating hydrocephalus complex cortical dysplasia with other brain malformations 1 complex cortical dysplasia with other brain malformations 7 cone-rod dystrophy congenital heart disease congenital merosin-deficient muscular dystrophy 1A congenital muscular dystrophy 1B congenital muscular dystrophy due to LMNA mutation congenital muscular dystrophy due to integrin alpha-7 deficiency congenital muscular dystrophy-dystroglycanopathy type A1 congenital muscular dystrophy-dystroglycanopathy type A5 congenital muscular dystrophy congenital myopathy 1A congenital myopathy 4A congenital structural myopathy congestive heart failure cornea plana cortical dysplasia-focal epilepsy syndrome craniometaphyseal dysplasia cryptorchidism developmental coordination disorder diabetic ketoacidosis dilated cardiomyopathy 1A dilated cardiomyopathy 1AA dilated cardiomyopathy 1B dilated cardiomyopathy 1BB dilated cardiomyopathy 1C dilated cardiomyopathy 1CC dilated cardiomyopathy 1D dilated cardiomyopathy 1DD dilated cardiomyopathy 1E dilated cardiomyopathy 1EE dilated cardiomyopathy 1FF dilated cardiomyopathy 1G dilated cardiomyopathy 1GG dilated cardiomyopathy 1H dilated cardiomyopathy 1HH dilated cardiomyopathy 1I dilated cardiomyopathy 1II dilated cardiomyopathy 1JJ dilated cardiomyopathy 1K dilated cardiomyopathy 1KK dilated cardiomyopathy 1L dilated cardiomyopathy 1M dilated cardiomyopathy 1NN dilated cardiomyopathy 1O dilated cardiomyopathy 1P dilated cardiomyopathy 1Q dilated cardiomyopathy 1R dilated cardiomyopathy 1S dilated cardiomyopathy 1T dilated cardiomyopathy 1U dilated cardiomyopathy 1V dilated cardiomyopathy 1W dilated cardiomyopathy 1X dilated cardiomyopathy 1Y dilated cardiomyopathy 1Z dilated cardiomyopathy 2A dilated cardiomyopathy 2B dilated cardiomyopathy distal myopathy endomyocardial fibrosis epilepsy facial nerve disease facial paralysis facioscapulohumeral muscular dystrophy familial periodic paralysis fibromyalgia fundus albipunctatus fundus dystrophy glaucoma holoprosencephaly 1 holoprosencephaly hydranencephaly hydrocephalus hydrophthalmos hypertrophic cardiomyopathy hypertropia imperforate anus intellectual disability isolated cleft palate isolated elevated serum creatine phosphokinase levels learning disability limb-girdle muscular dystrophy lissencephaly mechanical strabismus megaconial type congenital muscular dystrophy megalocornea meningocele microcephaly microphthalmia muscular dystrophy-dystroglycanopathy type B1 muscular dystrophy-dystroglycanopathy type B5 muscular dystrophy-dystroglycanopathy type B6 muscular dystrophy myofibrillar myopathy 1 myofibrillar myopathy 3 myopathy myopia myositis nemaline myopathy neuromuscular disease 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 obstructive hydrocephalus oculopharyngeal muscular dystrophy ophthalmoplegia optic atrophy peripheral retinal degeneration pontocerebellar hypoplasia type 2D pontocerebellar hypoplasia type 7 pontocerebellar hypoplasia type 8 pontocerebellar hypoplasia type 9 pseudosarcomatous fibromatosis recurrent corneal erosion renal agenesis retinal detachment retinitis pigmentosa retrograde amnesia rigid spine muscular dystrophy 1 rippling muscle disease 2 scoliosis senile degeneration of brain septooptic dysplasia short-rib thoracic dysplasia 14 with polydactyly speech disorder strabismus syndromic X-linked intellectual disability 94 syndromic X-linked intellectual disability Najm type 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 visual epilepsy
1545	cytochrome P450 family 1 subfamily B member 1	CYP1B1 Aliases: CP1B	Homo sapiens (human)	Axenfeld-Rieger syndrome B-cell lymphoma Bloch-Sulzberger syndrome Foster-Kennedy syndrome Langerhans-cell histiocytosis Lynch syndrome Marfan syndrome Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Peters anomaly Peutz-Jeghers syndrome Sveinsson chorioretinal atrophy acoustic neuroma acute lymphoblastic leukemia acute myeloid leukemia acute myocardial infarction adenocarcinoma adenoma adult medulloblastoma adult respiratory distress syndrome agranulocytosis allergic asthma amnestic disorder anaplastic astrocytoma anemia angiomatous meningioma angle-closure glaucoma aniridia ankylosing spondylitis anterior segment dysgenesis 6 anterior segment dysgenesis arteriosclerotic cardiovascular disease arthritis arthropathy asthma atherosclerosis atrial heart septal defect 1 atrial heart septal defect 2 atrial heart septal defect 3 atrial heart septal defect 4 atrial heart septal defect 5 atrial heart septal defect 6 atrial heart septal defect 7 atrial heart septal defect 8 atrial heart septal defect 9 atrial heart septal defect autism spectrum disorder autistic disorder basal cell carcinoma benign meningioma bladder carcinoma blindness brain cancer branch retinal artery occlusion breast adenocarcinoma breast cancer breast carcinoma breast fibrocystic disease bronchus cancer bronchus carcinoma buphthalmos cancer capillary hemangioma carcinoma cardiovascular system disease cavernous hemangioma central nervous system cancer central nervous system lymphoma central retinal artery occlusion cerebral convexity meningioma cervical adenocarcinoma cervical cancer cervix carcinoma childhood acute lymphocytic leukemia childhood cerebral astrocytoma childhood kidney cell carcinoma childhood leukemia childhood medulloblastoma choriocarcinoma chromophobe renal cell carcinoma chronic closed-angle glaucoma chronic obstructive pulmonary disease clear cell meningioma clear cell renal cell carcinoma collecting duct carcinoma coloboma colon cancer colonic benign neoplasm colorectal cancer colorectal carcinoma common wart congenital nystagmus congestive heart failure contact dermatitis cornea plana corneal neovascularization coronary artery disease coronary thrombosis cribriform carcinoma depressive disorder diabetes mellitus disease of metabolism dissociated nystagmus dysplastic nevus syndrome ectropion embryoma endometrial cancer endometrial carcinoma endometriosis of uterus endometriosis esophageal cancer esophageal carcinoma esophagus squamous cell carcinoma essential hypertension essential thrombocythemia eye disease familial adenomatous polyposis familial hyperlipidemia familial multiple nevi flammei female breast carcinoma fibrillary astrocytoma fibrous meningioma follicular adenoma gallbladder cancer gallbladder carcinoma gallbladder disease gastrointestinal stromal tumor gemistocytic astrocytoma gestational diabetes giant cell glioblastoma glaucoma glioblastoma gliosarcoma glucose intolerance granular cell carcinoma head and neck cancer head and neck squamous cell carcinoma heart disease hepatitis hepatocellular carcinoma high grade glioma hydrophthalmos hyperglycemia hypertension hypertrophic cardiomyopathy hypertropia hypomelanosis of Ito hypospadias inflammatory breast carcinoma intraorbital meningioma intraventricular meningioma intrinsic asthma juvenile glaucoma juvenile pilocytic astrocytoma kidney cancer large intestine cancer laryngeal benign neoplasm laryngeal carcinoma larynx cancer leiomyoma leukemia leukopenia liver cancer liver disease low tension glaucoma lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma lung squamous cell carcinoma lymphoblastic lymphoma lymphoma lymphoplasmacyte-rich meningioma macrocytic anemia male breast cancer male infertility malignant astrocytoma mechanical strabismus medulloblastoma medullomyoblastoma melanoma melanotic medulloblastoma meningioma meningothelial meningioma microcystic adenoma microcystic meningioma microglandular adenosis microphthalmia mixed glioma multiple myeloma multiple sclerosis myelodysplastic syndrome myocardial infarction myofibroma neutropenia newborn respiratory distress syndrome nodular prostate non-Hodgkin lymphoma nonpapillary renal cell carcinoma obesity obsolete anterior segment mesenchymal dysgenesis obsolete ymphosarcoma occupational dermatitis ocular hypertension oculodentodigital dysplasia olfactory groove meningioma open-angle glaucoma ophthalmoplegia optic atrophy 1 optic atrophy optic nerve disease oral mucosa leukoplakia osteoarthritis osteoporosis ovarian cancer ovarian carcinoma pancreatic cancer pancreatic carcinoma pancreatic ductal adenocarcinoma pancreatitis papillary adenoma papillary renal cell carcinoma parasagittal meningioma patent ductus arteriosus patent foramen ovale pathologic nystagmus periodontitis phimosis pilocytic astrocytoma pituitary adenoma placenta cancer polycystic ovary syndrome prediabetes syndrome primary angle-closure glaucoma primary cutaneous amyloidosis primary open angle glaucoma primary pulmonary hypertension prostate cancer prostate carcinoma prostatic adenoma protoplasmic astrocytoma psammomatous meningioma recurrent corneal erosion renal carcinoma renal cell carcinoma reticulosarcoma retinal artery occlusion retinal detachment retinal disease retinal vein occlusion retinitis retrograde amnesia sarcomatoid carcinoma sarcomatoid renal cell carcinoma sebaceous carcinoma secretory meningioma severe congenital neutropenia silent myocardial infarction situs inversus skin melanoma spinal meningioma spontaneous ocular nystagmus squamous cell carcinoma squamous cell neoplasm steatotic liver disease strabismus subependymal giant cell astrocytoma sweat gland cancer tongue squamous cell carcinoma transitional cell carcinoma transitional meningioma tuberous sclerosis tubular adenocarcinoma type 2 diabetes mellitus urinary bladder cancer uterine corpus cancer uterine fibroid visual pathway disease von Hippel-Lindau disease white sponge nevus xeroderma pigmentosum group A xeroderma pigmentosum group B xeroderma pigmentosum group C xeroderma pigmentosum group D xeroderma pigmentosum group E xeroderma pigmentosum group F xeroderma pigmentosum group G xeroderma pigmentosum variant type xeroderma pigmentosum
8604	solute carrier family 25 member 12	SLC25A12	Homo sapiens (human)	Asperger syndrome autism spectrum disorder autistic disorder citrullinemia common bile duct disease developmental and epileptic encephalopathy 39 intrahepatic cholestasis
414	arylsulfatase D	ARSD Aliases: ASD	Homo sapiens (human)	Asperger syndrome Bannayan-Riley-Ruvalcaba syndrome Beckwith-Wiedemann syndrome CLOVES syndrome Cockayne syndrome Cornelia de Lange syndrome 1 Cornelia de Lange syndrome Cowden syndrome Down syndrome Dubowitz syndrome Lown-Ganong-Levine syndrome Marfan syndrome Mowat-Wilson 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 Perlman syndrome Prader-Willi syndrome Rett syndrome Richter's syndrome Robinow syndrome Seckel syndrome Silver-Russell syndrome Sotos syndrome Williams-Beuren syndrome Wolff-Parkinson-White syndrome X-linked Aarskog syndrome acute kidney tubular necrosis acute myeloid leukemia acute promyelocytic leukemia adult respiratory distress syndrome alexia amnestic disorder aniridia anxiety disorder aortic valve disease 1 aortic valve disease 2 aortic valve stenosis argininosuccinic aciduria arteriosclerotic cardiovascular disease atherosclerosis atrial heart septal defect 1 atrial heart septal defect 2 atrial heart septal defect 3 atrial heart septal defect 4 atrial heart septal defect 5 atrial heart septal defect 6 atrial heart septal defect 7 atrial heart septal defect 8 atrial heart septal defect 9 atrial heart septal defect atrioventricular block atrioventricular septal defect attention deficit hyperactivity disorder autism spectrum disorder autistic disorder autoimmune disease autoimmune lymphoproliferative syndrome autosomal dominant Robinow syndrome 1 autosomal dominant Robinow syndrome 2 autosomal dominant Robinow syndrome 3 autosomal recessive Robinow syndrome bicuspid aortic valve disease breast cancer breast carcinoma buphthalmos cardiomyopathy cardiovascular system disease cerebral palsy chondrodysplasia-pseudohermaphroditism syndrome chronic lymphocytic leukemia citrullinemia communication disorder conduct disorder congenital heart disease congestive heart failure coronary artery disease depressive disorder developmental coordination disorder disease of mental health dyslexia dysthymic disorder eating disorder endocarditis endometriosis of uterus endometriosis endomyocardial fibrosis epilepsy essential hypertension excessive tearing familial hypertrophic cardiomyopathy fragile X syndrome generalized anxiety disorder glaucoma heart disease hemiplegia hydrophthalmos hyperargininemia hypertension hypertrophic cardiomyopathy hypospadias immune system disease infective endocarditis intellectual disability juvenile glaucoma lacrimal apparatus disease language disorder learning disability major depressive disorder melancholic depression microcephalic osteodysplastic primordial dwarfism type I microcephalic osteodysplastic primordial dwarfism type II microphthalmia neurotic disorder newborn respiratory distress syndrome nicotine dependence obesity obsolete melancholia patent ductus arteriosus patent foramen ovale phobic disorder polycystic ovary syndrome post-traumatic stress disorder primary open angle glaucoma psychotic disorder pulmonary valve stenosis retrograde amnesia schizophrenia sclerocornea situs inversus spastic diplegia spastic monoplegia spastic quadriplegic cerebral palsy subacute bacterial endocarditis substance abuse substance-related disorder supravalvular aortic stenosis syndromic X-linked intellectual disability 94 tuberous sclerosis ventricular septal defect visual epilepsy
5631	phosphoribosyl pyrophosphate synthetase 1	PRPS1 Aliases: CMTX5 DFNX1 PPRibP PRS I PRS-I ribose-phosphate diphosphokinase 1	Homo sapiens (human)	Arts syndrome 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 type X Charcot-Marie-Tooth disease Foster-Kennedy syndrome Laron syndrome Werner syndrome X-linked deafness 1 X-linked nonsyndromic deafness achondroplasia acute lymphoblastic leukemia adult acute lymphocytic leukemia agenesis of the corpus callosum with peripheral neuropathy agnosia alternating exotropia anaplastic astrocytoma blindness breast cancer breast carcinoma cancer carcinoma central sleep apnea childhood acute lymphocytic leukemia childhood cerebral astrocytoma coloboma colorectal cancer colorectal carcinoma communication disorder congenital nystagmus critical illness polyneuropathy developmental coordination disorder diabetes insipidus disease of metabolism dissociated nystagmus embryoma epilepsy exotropia fibrillary astrocytoma fundus dystrophy gemistocytic astrocytoma giant cell glioblastoma glioblastoma gout hepatocellular carcinoma hereditary neuropathy with liability to pressure palsies hereditary sensory and autonomic neuropathy type 2 high grade glioma hyperuricemia inflammatory and toxic neuropathy intellectual disability juvenile pilocytic astrocytoma kidney failure kwashiorkor language disorder large intestine cancer learning disability liver cancer locked-in syndrome malignant astrocytoma marasmus meningoencephalitis monocular exotropia motor peripheral neuropathy neuroblastoma neurodegeneration with brain iron accumulation neurohypophyseal diabetes insipidus neuropathy nutrition disease nutritional optic neuropathy obsolete hereditary motor and sensory neuropathy with agenesis of the corpus callosum optic atrophy optic nerve disease pancreas disease paraplegia pathologic nystagmus peripheral nervous system disease phosphoribosylpyrophosphate synthetase superactivity pilocytic astrocytoma placental insufficiency polyneuropathy primary immunodeficiency disease progeria protein-energy malnutrition protoplasmic astrocytoma quadriplegia retinitis pigmentosa sarcomatoid carcinoma scoliosis sensorineural hearing loss sensory peripheral neuropathy spontaneous ocular nystagmus subependymal giant cell astrocytoma uric acid nephrolithiasis visual epilepsy visual pathway disease

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