GlyCosmos Portal

Homo sapiens (human)

Summary

Taxonomy ID: 9606
PubChem Taxonomy: 9606

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

Displaying entries **1026 - 1050** of **1582** in total

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Gene ID	Gene Name	Gene Symbol ▼	Disease Ontology
2538	glucose-6-phosphatase catalytic subunit 1	G6PC1 GSD1a glycogen storage disease type I, von Gierke disease	Fabry disease Gerstmann-Straussler-Scheinker syndrome Gorham's disease Laron syndrome Zollinger-Ellison syndrome achondroplasia acute pancreatitis adenocarcinoma adenoma agranulocytosis anemia blood coagulation disease bone marrow cancer breast cancer cancer carcinoma chromophobe renal cell carcinoma chronic kidney disease chylomicron retention disease clear cell renal cell carcinoma collecting duct carcinoma cystinuria diabetes mellitus diabetic ketoacidosis disease of metabolism embryoma endometrial adenocarcinoma endometrial cancer endometrial carcinoma epilepsy essential hypertension eyelid disease familial hyperlipidemia familial periodic paralysis focal segmental glomerulosclerosis follicular adenoma galactosemia gallbladder disease gastrointestinal system disease gestational diabetes giant cell glioblastoma glioblastoma glomerulonephritis glucose intolerance glucose metabolism disease glucosephosphate dehydrogenase deficiency glycogen storage disease II glycogen storage disease III glycogen storage disease IV glycogen storage disease IXa glycogen storage disease IXb glycogen storage disease IXc glycogen storage disease IXd glycogen storage disease Ia glycogen storage disease VI glycogen storage disease VII glycogen storage disease VIII glycogen storage disease gout hepatitis C hepatocellular carcinoma high grade glioma hyperglycemia hyperinsulinism hypertension hyperuricemia hypoglycemia insulinoma intestinal disease kidney disease kidney failure kwashiorkor lactic acidosis leukopenia lipid storage disease liver cancer liver disease macrocytic anemia marasmus methemoglobinemia microcystic adenoma myeloproliferative neoplasm myopathy nephritis nephrolithiasis nephrosis neuroblastoma neutropenia nonpapillary renal cell carcinoma nutrition disease obesity obsolete type 1 diabetes mellitus 9 osteoporosis ovarian cancer ovarian carcinoma pancreatitis papillary adenoma papillary renal cell carcinoma placental insufficiency polycystic ovary syndrome prediabetes syndrome protein-energy malnutrition proteinuria pyoureter renal carcinoma renal cell carcinoma sarcomatoid carcinoma sarcomatoid renal cell carcinoma severe congenital neutropenia steatotic liver disease sudden infant death syndrome sulfhemoglobinemia type 1 diabetes mellitus 10 type 1 diabetes mellitus 11 type 1 diabetes mellitus 12 type 1 diabetes mellitus 13 type 1 diabetes mellitus 15 type 1 diabetes mellitus 17 type 1 diabetes mellitus 18 type 1 diabetes mellitus 19 type 1 diabetes mellitus 20 type 1 diabetes mellitus 21 type 1 diabetes mellitus 22 type 1 diabetes mellitus 23 type 1 diabetes mellitus 24 type 1 diabetes mellitus 2 type 1 diabetes mellitus 3 type 1 diabetes mellitus 4 type 1 diabetes mellitus 5 type 1 diabetes mellitus 6 type 1 diabetes mellitus 7 type 1 diabetes mellitus 8 type 1 diabetes mellitus type 2 diabetes mellitus uremia uric acid nephrolithiasis uterine corpus cancer visual epilepsy xanthomatosis
10690	fucosyltransferase 9	FUT9 Fuc-TIX alpha (1,3) fucosyltransferase	bronchus cancer bronchus carcinoma cancer candidiasis colorectal cancer colorectal carcinoma embryoma hepatocellular carcinoma large intestine cancer liver cancer lung benign neoplasm lung cancer lung carcinoma malaria
2530	fucosyltransferase 8	FUT8 alpha (1,6) fucosyltransferase	Laron syndrome achondroplasia adenocarcinoma adenoma arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease atherosclerosis brain disease breast cancer breast carcinoma bronchus cancer bronchus carcinoma buphthalmos cancer chronic fatigue syndrome chronic myeloid leukemia chronic obstructive pulmonary disease colorectal cancer colorectal carcinoma congenital disorder of glycosylation coronary artery disease embryoma encephalitis encephalomyelitis epilepsy follicular adenoma glaucoma hepatitis A hepatitis C hepatitis hepatocellular carcinoma hydrophthalmos idiopathic interstitial pneumonia intellectual disability juvenile glaucoma large intestine cancer learning disability liver cancer lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma melanoma microcephaly microcystic adenoma myelitis ovarian cancer ovarian carcinoma pancreatic ductal adenocarcinoma pancreatic intraductal papillary-mucinous neoplasm papillary adenoma papillary carcinoma placental insufficiency polyhydramnios postinflammatory pulmonary fibrosis prostate cancer prostate carcinoma pseudomyxoma peritonei pulmonary emphysema pulmonary fibrosis schizophrenia scoliosis skin melanoma visual epilepsy
2529	fucosyltransferase 7	FUT7 alpha (1,3) fucosyltransferase	acute myocardial infarction arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease atherosclerosis bronchus cancer bronchus carcinoma cancer candidiasis chronic fatigue syndrome colon cancer colon carcinoma colonic benign neoplasm colorectal cancer coronary thrombosis dermatitis encephalitis encephalomyelitis familial retinoblastoma hepatocellular carcinoma large intestine cancer liver cancer lung cancer lung carcinoma myelitis myocardial infarction polycystic ovary syndrome prostate cancer prostate carcinoma retinoblastoma silent myocardial infarction trilateral retinoblastoma
2528	fucosyltransferase 6	FUT6 FCT3A FLJ40754 FT1A FucT-VI alpha-(1,3)-fucosyltransferase galactoside 3-L-fucosyltransferase	Kuhnt-Junius degeneration age related macular degeneration breast cancer cancer candidiasis carcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma degeneration of macula and posterior pole embryoma hepatocellular carcinoma large intestine cancer liver cancer macular degeneration pernicious anemia prostate cancer prostate carcinoma sarcomatoid carcinoma stomach cancer stomach carcinoma
2527	fucosyltransferase 5	FUT5 FUC-TV alpha (1,3) fucosyltransferase	bronchus cancer bronchus carcinoma candidiasis colorectal cancer colorectal carcinoma hepatocellular carcinoma large intestine cancer liver cancer lung benign neoplasm lung cancer lung carcinoma prostate cancer prostate carcinoma stomach cancer stomach carcinoma
2526	fucosyltransferase 4	FUT4 FUC-TIV alpha (1,3) fucosyltransferase, myeloid-specific galactoside 3-L-fucosyltransferase	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
2525	fucosyltransferase 3 (Lewis blood group)	FUT3 CD174 galactoside 3(4)-L-fucosyltransferase	Crohn's colitis Crohn's disease achalasia adult respiratory distress syndrome alopecia anemia arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease atherosclerosis bile duct adenocarcinoma bile duct carcinoma bipolar disorder bone osteosarcoma breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer candidiasis carcinoma childhood leukemia childhood osteosarcoma cholangiocarcinoma chromophobe renal cell carcinoma clear cell renal cell carcinoma colitis collecting duct carcinoma colon adenocarcinoma colon carcinoma colorectal cancer colorectal carcinoma congenital diaphragmatic hernia coronary artery disease cystic fibrosis depressive disorder dilated cardiomyopathy 1A dilated cardiomyopathy embryoma esophagitis gastroenteritis gastroesophageal reflux disease herpes simplex hiatus hernia ileitis ileocolitis immunoglobulin alpha deficiency inflammatory bowel disease 1 inflammatory bowel disease intrahepatic cholangiocarcinoma invasive ductal carcinoma large intestine cancer leech infestation leukemia lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung disease macrocytic anemia major depressive disorder megaesophagus melancholic depression microphthalmia myiasis nonpapillary renal cell carcinoma nutmeg liver obsolete Matthew-Wood syndrome obsolete melancholia osteosarcoma pancreatic cancer pancreatic carcinoma papillary renal cell carcinoma peptic esophagitis primary sclerosing cholangitis prostate cancer prostate carcinoma renal carcinoma renal cell carcinoma rumination disorder sarcomatoid carcinoma sarcomatoid renal cell carcinoma sclerosing cholangitis selective IgA deficiency disease stomach cancer stomach carcinoma toxoplasmosis ulcerative colitis
2524	fucosyltransferase 2 (H blood group)	FUT2 GDP-L-fucose:beta-D-galactoside 2-alpha-L-fucosyltransferase 2 SEC2 Se2 alpha (1,2) fucosyltransferase alpha(1,2)FT2 galactoside 2-alpha-L-fucosyltransferase 2 secretor blood group alpha-2-fucosyltransferase secretor factor sej	Behcet's disease Crohn's colitis Crohn's disease Graves' disease Marfan syndrome acquired immunodeficiency syndrome acute pancreatitis allergic asthma anemia ankylosing spondylitis arthritis arthropathy ascending cholangitis asthma autoimmune disease autoimmune lymphoproliferative syndrome autoimmune thyroiditis bile duct adenocarcinoma bile duct carcinoma breast cancer breast carcinoma bronchiolitis bronchus cancer bronchus carcinoma cancer candidiasis cardiovascular system disease celiac disease cholangiocarcinoma cholangitis colitis colon adenocarcinoma colon carcinoma colonic disease colorectal cancer colorectal carcinoma common variable immunodeficiency cystic fibrosis dermatitis diabetes mellitus diabetic ketoacidosis diarrhea embryoma gallbladder disease gastritis gastroduodenal Crohn's disease gastroenteritis heart disease hemochromatosis type 1 hemochromatosis hepatocellular carcinoma human immunodeficiency virus infectious disease hyperthyroidism ileitis ileocolitis immune system disease immunoglobulin alpha deficiency inflammatory bowel disease 1 inflammatory bowel disease influenza intrahepatic cholangiocarcinoma intrinsic asthma jejunoileitis juvenile rheumatoid arthritis lactose intolerance large intestine cancer leech infestation liver cancer liver disease lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma macrocytic anemia melanoma myiasis obsolete type 1 diabetes mellitus 9 oral candidiasis osteoarthritis otitis media pancreatic cancer pancreatitis parapsoriasis pneumonia primary sclerosing cholangitis psoriasis pustulosis of palm and sole rabies sclerosing cholangitis selective IgA deficiency disease situs inversus skin melanoma status epilepticus stomach cancer stomach carcinoma sudden infant death syndrome suppurative cholangitis systemic lupus erythematosus thyrotoxicosis toxic shock syndrome toxoplasmosis tuberculosis tuberous sclerosis type 1 diabetes mellitus 10 type 1 diabetes mellitus 11 type 1 diabetes mellitus 12 type 1 diabetes mellitus 13 type 1 diabetes mellitus 15 type 1 diabetes mellitus 17 type 1 diabetes mellitus 18 type 1 diabetes mellitus 19 type 1 diabetes mellitus 20 type 1 diabetes mellitus 21 type 1 diabetes mellitus 22 type 1 diabetes mellitus 23 type 1 diabetes mellitus 24 type 1 diabetes mellitus 2 type 1 diabetes mellitus 3 type 1 diabetes mellitus 4 type 1 diabetes mellitus 5 type 1 diabetes mellitus 6 type 1 diabetes mellitus 7 type 1 diabetes mellitus 8 type 1 diabetes mellitus type 2 diabetes mellitus ulcerative colitis viral infectious disease vitamin B12 deficiency
170384	fucosyltransferase 11	FUT11 MGC33202 alpha (1,3) fucosyltransferase	bronchus cancer bronchus carcinoma chromophobe renal cell carcinoma clear cell renal cell carcinoma collecting duct carcinoma hepatocellular carcinoma liver cancer lung benign neoplasm lung cancer lung carcinoma nonpapillary renal cell carcinoma papillary renal cell carcinoma renal carcinoma renal cell carcinoma sarcomatoid renal cell carcinoma schizophrenia stomach cancer
84750	fucosyltransferase 10	FUT10 alpha (1,3) fucosyltransferase	Grn-related frontotemporal lobar degeneration with Tdp43 inclusions amnestic disorder bronchus cancer bronchus carcinoma colon adenocarcinoma dissociative amnesia frontotemporal dementia hepatocellular carcinoma liver cancer lung benign neoplasm lung cancer lung carcinoma retrograde amnesia
2523	fucosyltransferase 1 (H blood group)	FUT1 galactoside 2-alpha-L-fucosyltransferase	B-cell lymphoma Edwards syndrome Fanconi anemia complementation group A Fanconi anemia complementation group D2 Fanconi anemia Kawasaki disease MHC class II deficiency Scheie syndrome T-cell acute lymphoblastic leukemia Wiskott-Aldrich syndrome X-linked lymphoproliferative syndrome 1 X-linked lymphoproliferative syndrome 2 X-linked severe combined immunodeficiency acquired immunodeficiency syndrome acquired polycythemia acute myeloid leukemia acute promyelocytic leukemia adenosine deaminase deficiency adrenoleukodystrophy alcoholic hepatitis alcoholic liver cirrhosis anemia arthritis arthropathy autoimmune disease autoimmune lymphoproliferative syndrome azoospermia beta thalassemia bile duct adenocarcinoma bile duct carcinoma bone marrow cancer breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer carcinoma 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 cerebral infarction cerebrovascular disease childhood leukemia cholangiocarcinoma chronic myeloid leukemia colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma combined T cell and B cell immunodeficiency congenital hemolytic anemia cutaneous porphyria cystic fibrosis diarrhea distal arthrogryposis embryoma erythropoietic protoporphyria erythropoietin polycythemia essential thrombocythemia factor VIII deficiency familial erythrocytosis 2 gallbladder disease glycogen storage disease II head and neck squamous cell carcinoma hematologic cancer hematopoietic system disease hemochromatosis type 1 hemochromatosis hemoglobin C disease hemoglobin D disease hemoglobin E disease hemoglobinopathy hemophagocytic lymphohistiocytosis hepatitis C hepatocellular carcinoma human immunodeficiency virus infectious disease immune system disease inherited metabolic disorder intrahepatic cholangiocarcinoma juvenile myelomonocytic leukemia large intestine cancer leukemia liver cancer liver cirrhosis liver disease lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung squamous cell carcinoma lysosomal storage disease macrocytic anemia malignant teratoma mantle cell lymphoma mature teratoma melanoma metachromatic leukodystrophy mucopolysaccharidosis I mucopolysaccharidosis II mucopolysaccharidosis III mucopolysaccharidosis IV mucopolysaccharidosis Ih mucopolysaccharidosis VI mucopolysaccharidosis multiple myeloma myelodysplastic syndrome myeloproliferative neoplasm obsolete ymphosarcoma orofaciodigital syndrome VIII osteoarthritis ovarian cancer ovarian carcinoma pancytopenia paroxysmal nocturnal hemoglobinuria polycythemia vera polycythemia progressive muscular atrophy prostate cancer prostate carcinoma proteinuria psoriatic arthritis sarcomatoid carcinoma severe combined immunodeficiency sickle cell anemia skin benign neoplasm skin cancer skin melanoma skin squamous cell carcinoma spinal muscular atrophy squamous cell carcinoma stomach cancer stomach carcinoma stress polycythemia teratocarcinoma teratoma tongue squamous cell carcinoma
282969	fucose mutarotase	FUOM
2519	alpha-L-fucosidase 2	FUCA2 MGC1314 a-L-fucosidase 2 dJ20N2.5 plasma fucosidase α-L-fucosidase 2	autoimmune disease autoimmune lymphoproliferative syndrome duodenal ulcer glycoproteinosis immune system disease schizophrenia sickle cell anemia
2517	alpha-L-fucosidase 1	FUCA1 a-L-fucosidase 1 tissue fucosidase α-L-fucosidase 1	Laron syndrome Sjogren's syndrome achondroplasia acquired immunodeficiency syndrome angiokeratoma anhidrosis aspartylglucosaminuria autoimmune disease autoimmune lymphoproliferative syndrome breast cancer breast carcinoma cancer cerebral degeneration colorectal cancer colorectal carcinoma congenital generalized lipodystrophy type 1 congenital generalized lipodystrophy type 2 congenital generalized lipodystrophy type 3 congenital generalized lipodystrophy type 4 congenital hypothyroidism craniosynostosis critical illness polyneuropathy diabetes mellitus diabetic cataract diabetic retinopathy embryoma enterocele epilepsy fucosidosis head and neck cancer human immunodeficiency virus infectious disease hypertrichosis hypohidrosis hypothyroidism immune system disease inflammatory and toxic neuropathy intellectual disability keratoconjunctivitis sicca large intestine cancer learning disability lipoatrophic diabetes mellitus lipodystrophy livedoid vasculitis lobular neoplasia locked-in syndrome lysosomal storage disease meningoencephalitis mucoepidermoid carcinoma mucopolysaccharidosis I mucopolysaccharidosis II mucopolysaccharidosis III mucopolysaccharidosis IV mucopolysaccharidosis Ih mucopolysaccharidosis VI mucopolysaccharidosis myxedema neuropathy papillary adenocarcinoma papillary renal cell carcinoma peripheral nervous system disease polyneuropathy quadriplegia recurrent corneal erosion scoliosis sensorineural hearing loss squamous cell carcinoma syndromic X-linked intellectual disability 94 thyroid adenoma thyroid cancer thyroid gland anaplastic carcinoma thyroid gland carcinoma thyroid gland papillary carcinoma tongue squamous cell carcinoma type 1 diabetes mellitus type 2 diabetes mellitus vascular skin disease visual epilepsy
158326	FRAS1 related extracellular matrix 1	FREM1 C9orf143 C9orf145 DKFZp686M16108 FLJ25461 TILRR	3p deletion syndrome Angelman syndrome Baraitser-Winter syndrome CAKUT Fraser syndrome 1 Fraser syndrome Goldenhar syndrome Moebius syndrome Muenke Syndrome NFIA-related disorder Nance-Horan syndrome Potter's syndrome SATB2-associated syndrome Sakati-Nyhan syndrome Smith-Magenis syndrome Warburg micro syndrome 1 Warburg micro syndrome 2 Warburg micro syndrome 3 Warburg micro syndrome 4 Weissenbacher-Zweymuller syndrome acquired immunodeficiency syndrome anorectal stricture bilateral renal aplasia branchiootic syndrome cardiovascular system disease chromosome 13q14 deletion syndrome chromosome 15q13.3 microdeletion syndrome chromosome 15q24 deletion syndrome chromosome 15q26-qter deletion syndrome chromosome 16p11.2 deletion syndrome, 220-kb chromosome 16p12.2-p11.2 deletion syndrome chromosome 17q12 deletion syndrome chromosome 17q23.1-q23.2 deletion syndrome chromosome 18q deletion syndrome chromosome 1q21.1 deletion syndrome chromosome 1q41-q42 deletion syndrome chromosome 2p16.1-p15 deletion syndrome chromosome 6pter-p24 deletion syndrome chromosome 8q21.11 deletion syndrome chromosome 9p deletion syndrome congenital diaphragmatic hernia craniosynostosis distal 10q deletion syndrome eye disease heart disease hiatus hernia human immunodeficiency virus infectious disease microphthalmia myelofibrosis omphalocele orofaciodigital syndrome I orofaciodigital syndrome X rectal prolapse renal agenesis umbilical hernia
8790	fucose-1-phosphate guanylyltransferase	FPGT GFPP	chromophobe renal cell carcinoma clear cell renal cell carcinoma collecting duct carcinoma papillary renal cell carcinoma renal carcinoma renal cell carcinoma sarcomatoid renal cell carcinoma
3607	forkhead box K2	FOXK2
221937	forkhead box K1	FOXK1
2350	folate receptor beta	FOLR2 FRβ	Alzheimer's disease 10 Alzheimer's disease 11 Alzheimer's disease 12 Alzheimer's disease 13 Alzheimer's disease 14 Alzheimer's disease 15 Alzheimer's disease 1 Alzheimer's disease 2 Alzheimer's disease 5 Alzheimer's disease 6 Alzheimer's disease 7 Alzheimer's disease 8 Alzheimer's disease Ebola hemorrhagic fever Fleck corneal dystrophy Lyme disease Pick's disease Rett syndrome Reye syndrome Stevens-Johnson syndrome acute myeloid leukemia acute myocardial infarction adenocarcinoma adenoma arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease atherosclerosis autism spectrum disorder autistic disorder autoimmune disease autoimmune lymphoproliferative syndrome benign mesothelioma bone osteosarcoma breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer cerebral degeneration cerebral folate receptor alpha deficiency childhood osteosarcoma chronic fatigue syndrome chronic myeloid leukemia colorectal cancer colorectal carcinoma coronary artery disease coronary thrombosis cribriform carcinoma diabetes mellitus diabetic ketoacidosis diverticulitis embryoma encephalitis encephalomyelitis endometrial cancer endometrial carcinoma enthesopathy erythema multiforme fibromyalgia gestational diabetes granular cell carcinoma head and neck squamous cell carcinoma hematologic cancer hemolytic anemia hepatocellular carcinoma hyperhomocysteinemia idiopathic interstitial pneumonia idiopathic pulmonary fibrosis immune system disease interstitial lung disease large intestine cancer lingual-facial-buccal dyskinesia liver cancer liver carcinoma localized scleroderma lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma malignant mesothelioma malignant pleural mesothelioma maturity-onset diabetes of the young measles melanoma mitochondrial metabolism disease mitochondrial myopathy movement disease multiple myeloma multiple sclerosis myelitis myelomeningocele myocardial infarction neurodegenerative disease osteosarcoma ovarian cancer ovarian carcinoma pancreatic cancer pancreatic carcinoma pancreatic ductal adenocarcinoma postinflammatory pulmonary fibrosis pulmonary fibrosis rheumatoid arthritis scleroderma silent myocardial infarction skin melanoma spina bifida squamous cell carcinoma steatotic liver disease stomach cancer stomach carcinoma synovitis systemic scleroderma temporal arteritis tenosynovitis tethered spinal cord syndrome tongue squamous cell carcinoma tubular adenocarcinoma type 2 diabetes mellitus uterine corpus cancer vascular disease
2348	folate receptor alpha	FOLR1 FRα	Cockayne syndrome Cornelia de Lange syndrome Dubowitz 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 Prader-Willi syndrome Rett syndrome Robinow syndrome Seckel syndrome Silver-Russell syndrome Stevens-Johnson syndrome X-linked Aarskog syndrome acoustic neuroma acute myocardial infarction adult medulloblastoma alcohol dependence alcohol use disorder angiomatous meningioma autism spectrum disorder autistic disorder autosomal dominant Robinow syndrome 1 autosomal dominant Robinow syndrome 2 autosomal dominant Robinow syndrome 3 autosomal recessive Robinow syndrome benign meningioma benign mesothelioma bone osteosarcoma bronchus cancer bronchus carcinoma cancer carcinoma cerebral convexity meningioma cerebral folate receptor alpha deficiency cervical cancer cervical squamous cell carcinoma cervix carcinoma childhood medulloblastoma chondrodysplasia-pseudohermaphroditism syndrome clear cell meningioma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer coronary thrombosis embryoma endometrial cancer endometrial carcinoma endometrial serous adenocarcinoma epilepsy erythema multiforme familial retinoblastoma fibrous meningioma giant cell glioblastoma glioblastoma hepatocellular carcinoma hyperhomocysteinemia intraorbital meningioma intraventricular meningioma large intestine cancer liver cancer lung cancer lung carcinoma malignant mesothelioma malignant pleural mesothelioma medulloblastoma medullomyoblastoma melanotic medulloblastoma meningioma meningothelial meningioma microcephalic osteodysplastic primordial dwarfism type I microcephalic osteodysplastic primordial dwarfism type II microcystic meningioma multiple myeloma myelomeningocele myocardial infarction nasopharynx carcinoma neuropathy olfactory groove meningioma osteosarcoma ovarian cancer ovarian carcinoma pancreatic cancer pancreatic carcinoma pancreatic ductal adenocarcinoma parasagittal meningioma peripheral nervous system disease phototoxic dermatitis pituitary adenoma psammomatous meningioma retinoblastoma sarcomatoid carcinoma secretory meningioma silent myocardial infarction spina bifida spinal meningioma stomach cancer stomach carcinoma tethered spinal cord syndrome transitional meningioma trilateral retinoblastoma uterine cancer uterine corpus cancer
2331	fibromodulin	FMOD SLRR2E fibromodulin proteoglycan	B-cell lymphoma Richter's syndrome adult cystic teratoma adult lymphoma adult teratoma age related macular degeneration arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease arthritis arthropathy atherosclerosis breast cancer breast carcinoma cancer central nervous system cancer central nervous system lymphoma childhood leukemia childhood lymphoma chronic lymphocytic leukemia colon carcinoma colorectal cancer congestive heart failure coronary artery disease cystic teratoma degeneration of macula and posterior pole embryoma enthesopathy exostosis female stress incontinence fibromyalgia giant cell glioblastoma gingivitis glioblastoma gliosarcoma glomerulonephritis high grade glioma kidney disease leiomyoma leukemia liver cirrhosis lung small cell carcinoma lymphoma macular degeneration malignant teratoma mantle cell lymphoma mature teratoma mixed glioma myofibroma myopia neovascular inflammatory vitreoretinopathy nephritis nephrosis obsolete ymphosarcoma osteoarthritis periarthritis periodontitis prostate cancer prostate carcinoma prostate disease pyoureter tendinitis teratoma uterine fibroid
2218	fukutin	FKTN LGMD2M	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
79147	fukutin related protein	FKRP FKTR LGMD2I MDC1C	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
9896	FIG4 phosphoinositide 5-phosphatase	FIG4 ALS11 CMT4J SAC3 dJ249I4.1 hSac3	Charcot-Marie-Tooth disease X-linked dominant 1 Charcot-Marie-Tooth disease X-linked dominant 6 Charcot-Marie-Tooth disease X-linked recessive 2 Charcot-Marie-Tooth disease X-linked recessive 3 Charcot-Marie-Tooth disease X-linked recessive 4 Charcot-Marie-Tooth disease X-linked recessive 5 Charcot-Marie-Tooth disease axonal type 2C Charcot-Marie-Tooth disease axonal type 2F Charcot-Marie-Tooth disease axonal type 2H Charcot-Marie-Tooth disease axonal type 2K Charcot-Marie-Tooth disease axonal type 2L Charcot-Marie-Tooth disease axonal type 2N Charcot-Marie-Tooth disease axonal type 2O Charcot-Marie-Tooth disease axonal type 2P Charcot-Marie-Tooth disease axonal type 2Q Charcot-Marie-Tooth disease axonal type 2T Charcot-Marie-Tooth disease axonal type 2U Charcot-Marie-Tooth disease dominant intermediate A Charcot-Marie-Tooth disease dominant intermediate B Charcot-Marie-Tooth disease dominant intermediate C Charcot-Marie-Tooth disease dominant intermediate D Charcot-Marie-Tooth disease dominant intermediate E Charcot-Marie-Tooth disease dominant intermediate F Charcot-Marie-Tooth disease recessive intermediate B Charcot-Marie-Tooth disease recessive intermediate C Charcot-Marie-Tooth disease recessive intermediate D Charcot-Marie-Tooth disease type 1A Charcot-Marie-Tooth disease type 1B Charcot-Marie-Tooth disease type 1C Charcot-Marie-Tooth disease type 1D Charcot-Marie-Tooth disease type 1E Charcot-Marie-Tooth disease type 1F Charcot-Marie-Tooth disease type 2 Charcot-Marie-Tooth disease type 2A1 Charcot-Marie-Tooth disease type 2A2A Charcot-Marie-Tooth disease type 2B1 Charcot-Marie-Tooth disease type 2B2 Charcot-Marie-Tooth disease type 2B Charcot-Marie-Tooth disease type 2D Charcot-Marie-Tooth disease type 2E Charcot-Marie-Tooth disease type 2I Charcot-Marie-Tooth disease type 2J Charcot-Marie-Tooth disease type 2R Charcot-Marie-Tooth disease type 2Y Charcot-Marie-Tooth disease type 3 Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease type 4A Charcot-Marie-Tooth disease type 4B1 Charcot-Marie-Tooth disease type 4B2 Charcot-Marie-Tooth disease type 4B3 Charcot-Marie-Tooth disease type 4C Charcot-Marie-Tooth disease type 4D Charcot-Marie-Tooth disease type 4E Charcot-Marie-Tooth disease type 4F Charcot-Marie-Tooth disease type 4G Charcot-Marie-Tooth disease type 4H Charcot-Marie-Tooth disease type 4J Charcot-Marie-Tooth disease type 4K Charcot-Marie-Tooth disease Joubert syndrome Laron syndrome Marfan syndrome Miller-Dieker lissencephaly syndrome Papillon-Lefevre disease Yunis-Varon syndrome achondroplasia agenesis of the corpus callosum with peripheral neuropathy amyotrophic lateral sclerosis type 11 amyotrophic lateral sclerosis type 1 amyotrophic lateral sclerosis type 2 amyotrophic lateral sclerosis type 4 amyotrophic lateral sclerosis anterior horn cell disease anxiety disorder atrial heart septal defect 1 atrial heart septal defect 2 atrial heart septal defect 3 atrial heart septal defect 4 atrial heart septal defect 5 atrial heart septal defect 6 atrial heart septal defect 7 atrial heart septal defect 8 atrial heart septal defect 9 atrial heart septal defect autosomal recessive distal hereditary motor neuronopathy 1 bilateral parasagittal parieto-occipital polymicrogyria breast cancer breast carcinoma cardiomyopathy cataract communicating hydrocephalus complex cortical dysplasia with other brain malformations 1 complex cortical dysplasia with other brain malformations 7 cortical dysplasia-focal epilepsy syndrome cryptorchidism demyelinating disease demyelinating polyneuropathy depressive disorder distal arthrogryposis dysthymic disorder endomyocardial fibrosis enophthalmos epilepsy essential hypertension generalized anxiety disorder gingival recession gliosarcoma hereditary neuropathy with liability to pressure palsies hereditary sensory and autonomic neuropathy type 1 hereditary sensory and autonomic neuropathy type 2 hereditary spastic paraplegia 7 high grade glioma holoprosencephaly 1 holoprosencephaly hydranencephaly hydrocephalus hypertension hypertrophic cardiomyopathy hypospadias laryngostenosis lateral sclerosis lissencephaly lysosomal storage disease major depressive disorder melancholic depression microcephaly mixed glioma motor neuron disease motor peripheral neuropathy neuroblastoma neurodegenerative disease neuropathy neurotic disorder obsolete exophthalmos obsolete hereditary motor and sensory neuropathy with agenesis of the corpus callosum obsolete melancholia obstructive hydrocephalus orbital disease patent foramen ovale peripheral nervous system disease placental insufficiency polyhydramnios polyneuropathy pontocerebellar hypoplasia type 2D pontocerebellar hypoplasia type 7 pontocerebellar hypoplasia type 8 pontocerebellar hypoplasia type 9 primary pulmonary hypertension progressive muscular atrophy pyloric stenosis renal artery obstruction renovascular hypertension sclerocornea senile degeneration of brain sensorineural hearing loss septooptic dysplasia short-rib thoracic dysplasia 14 with polydactyly situs inversus status epilepticus subacute delirium syndactyly syndromic X-linked intellectual disability Najm type tetralogy of Fallot tuberous sclerosis ventricular septal defect

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