GlyCosmos Portal

Homo sapiens (human)

Summary

Taxonomy ID: 9606
PubChem Taxonomy: 9606

Genes (9988) Glycans (5831) Glycoproteins (15733) Lectins (298) Pathways (2074)

Displaying entries **1 - 25** of **9988** in total

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Gene ID	Gene Name	Gene Symbol	Disease Ontology ▲
3293	hydroxysteroid 17-beta dehydrogenase 3	HSD17B3 SDR12C2 short chain dehydrogenase/reductase family 12C, member 2	17-beta hydroxysteroid dehydrogenase 3 deficiency Alzheimer's disease Kallmann syndrome Sheehan syndrome acne androgen insensitivity syndrome autoimmune hepatitis cancer congenital adrenal hyperplasia congenital hypothyroidism cryptorchidism diabetes mellitus disorder of sexual development endometriosis of uterus endometriosis gynecomastia hepatitis hermaphroditism hypertrophy of breast hypogonadism hypogonadotropic hypogonadism 1 with or without anosmia hypogonadotropic hypogonadism 10 with or without anosmia hypogonadotropic hypogonadism 11 with or without anosmia hypogonadotropic hypogonadism 12 with or without anosmia hypogonadotropic hypogonadism 13 with or without anosmia hypogonadotropic hypogonadism 14 with or without anosmia hypogonadotropic hypogonadism 16 with or without anosmia hypogonadotropic hypogonadism 17 with or without anosmia hypogonadotropic hypogonadism 18 with or without anosmia hypogonadotropic hypogonadism 19 with or without anosmia hypogonadotropic hypogonadism 2 with or without anosmia hypogonadotropic hypogonadism 20 with or without anosmia hypogonadotropic hypogonadism 21 with or without anosmia hypogonadotropic hypogonadism 22 with or without anosmia hypogonadotropic hypogonadism 23 with or without anosmia hypogonadotropic hypogonadism 3 with or without anosmia hypogonadotropic hypogonadism 4 with or without anosmia hypogonadotropic hypogonadism 5 with or without anosmia hypogonadotropic hypogonadism 6 with or without anosmia hypogonadotropic hypogonadism 7 with or without anosmia hypogonadotropic hypogonadism 8 with or without anosmia hypogonadotropic hypogonadism 9 with or without anosmia hypogonadotropic hypogonadism hypopituitarism hypospadias hypothyroidism infant gynecomastia infertility isolated growth hormone deficiency type IA isolated growth hormone deficiency type IB isolated growth hormone deficiency type II isolated growth hormone deficiency type III isolated growth hormone deficiency myxedema nicotine dependence nodular prostate obesity panhypopituitarism premature menopause prostate cancer prostate carcinoma prostatic adenoma pseudohermaphroditism type 2 diabetes mellitus
55526	dehydrogenase E1 and transketolase domain containing 1	DHTKD1	2-aminoadipic 2-oxoadipic aciduria Charcot-Marie-Tooth disease axonal type 2Q
3418	isocitrate dehydrogenase (NADP(+)) 2	IDH2 IDH-2	2-hydroxyglutaric aciduria 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 B-cell lymphoma Balo concentric sclerosis Burkitt lymphoma Cenani-Lenz syndactyly syndrome Chediak-Higashi syndrome D-2-hydroxyglutaric aciduria 1 D-2-hydroxyglutaric aciduria 2 D-2-hydroxyglutaric aciduria Duchenne muscular dystrophy Keshan disease Langerhans-cell histiocytosis Laron syndrome Maffucci syndrome Marinesco-Sjogren syndrome Ollier disease Pelger-Huet anomaly Peutz-Jeghers syndrome Pick's disease Reye syndrome Richter's syndrome T-cell acute lymphoblastic leukemia T-cell adult acute lymphocytic leukemia achondroplasia acoustic neuroma acute biphenotypic leukemia acute leukemia acute lymphoblastic leukemia acute monocytic leukemia acute myeloid leukemia acute promyelocytic leukemia adenocarcinoma adenoma adrenal cortex cancer adrenal gland cancer adrenoleukodystrophy adult acute lymphocytic leukemia adult astrocytic tumor adult lymphoma adult medulloblastoma adult oligodendroglioma alpha thalassemia-X-linked intellectual disability syndrome anaplastic astrocytoma anemia angioimmunoblastic T-cell lymphoma angiokeratoma aortic valve insufficiency aromatase excess syndrome arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease arthritis arthropathy atherosclerosis 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 ependymoma benign mastocytoma bile duct adenocarcinoma bile duct cancer bile duct carcinoma biliary tract cancer bipolar disorder bone cancer bone giant cell tumor bone marrow cancer bone osteosarcoma bone remodeling disease brain cancer brain stem glioma breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer carcinoma cardiomyopathy cardiovascular system disease cavernous hemangioma cellular ependymoma central nervous system cancer central nervous system disease central nervous system lymphoma cerebral degeneration cerebral palsy cherubism childhood acute lymphocytic leukemia childhood acute myeloid leukemia childhood astrocytic tumor childhood cerebral astrocytoma childhood leukemia childhood lymphoma childhood medulloblastoma childhood oligodendroglioma childhood osteosarcoma childhood pilocytic astrocytoma cholangiocarcinoma chondroblastoma chondroma chondrosarcoma chorioangioma chronic lymphocytic leukemia chronic monocytic leukemia chronic myeloid leukemia chronic ulcer of skin colitis colorectal cancer colorectal carcinoma cone-rod dystrophy congenital muscular dystrophy coronary artery disease cranial nerve disease cranial nerve palsy cribriform carcinoma degenerative disc disease demyelinating polyneuropathy diffuse infiltrative lymphocytosis syndrome diffuse large B-cell lymphoma disease of metabolism distal arthrogryposis distal myopathy duodenum cancer embryoma embryonal cancer endomyocardial fibrosis epilepsy epithelioid sarcoma esophagus squamous cell carcinoma essential hypertension essential thrombocythemia exanthem exostosis extracutaneous mastocytoma facioscapulohumeral muscular dystrophy familial hypertrophic cardiomyopathy familial retinoblastoma fibrillary astrocytoma focal epilepsy fundus albipunctatus ganglioglioma gastroenteritis gemistocytic astrocytoma germ cell and embryonal cancer germ cell cancer germinoma giant cell glioblastoma glioblastoma gliosarcoma glomus tumor goiter granular cell carcinoma head and neck squamous cell carcinoma heart cancer heart disease hemangioma hematologic cancer hematopoietic system disease hemiplegia hepatocellular carcinoma hepatocellular clear cell carcinoma hereditary multiple exostoses hidradenitis suppurativa hidradenitis high grade glioma histiocytoid hemangioma hydronephrosis hypertension hypertrophic cardiomyopathy ileitis ileocolitis indolent systemic mastocytosis inflammatory bowel disease inflammatory breast carcinoma inflammatory liposarcoma intellectual disability intrahepatic cholangiocarcinoma intramuscular hemangioma juvenile pilocytic astrocytoma kidney failure large intestine cancer learning disability leukemia limb-girdle muscular dystrophy liver cancer liver carcinoma luminal breast carcinoma A lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma lung squamous cell carcinoma lymphangioma lymphoblastic lymphoma lymphoid leukemia lymphoma macrocytic anemia malignant astrocytoma malignant fibrous histiocytoma mast cell neoplasm mastocytosis medulloblastoma medullomyoblastoma melanoma melanotic medulloblastoma meningioma mixed glioma mixed oligodendroglioma-astrocytoma mononeuritis multiplex mononeuropathy multiple myeloma muscular dystrophy myelodysplastic syndrome myelofibrosis myeloid leukemia myeloproliferative neoplasm myofibrillar myopathy 1 myofibrillar myopathy 3 myxopapillary ependymoma narcolepsy nervous system disease neurodegenerative disease neuroendocrine carcinoma neurofibromatosis 1 neurofibromatosis neuropathy non-Hodgkin lymphoma nontoxic goiter 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 ymphosarcoma oculopharyngeal muscular dystrophy olfactory neuroblastoma oligodendroglioma osteoarthritis osteoporosis osteosarcoma ovarian cancer ovarian carcinoma papillary carcinoma papillary ependymoma paraganglioma parathyroid adenoma parathyroid carcinoma partial motor epilepsy periarthritis peripheral T-cell lymphoma peripheral nervous system disease pheochromocytoma pilocytic astrocytoma pituitary adenoma pituitary cancer pituitary carcinoma plasmacytoma pleomorphic xanthoastrocytoma polycythemia vera polycythemia polyneuropathy pompholyx primary cerebellar degeneration prostate cancer prostate carcinoma protoplasmic astrocytoma pulmonary large cell neuroendocrine carcinoma reflex sympathetic dystrophy reticulosarcoma retinitis pigmentosa retinoblastoma rippling muscle disease 2 sarcoma sarcomatoid carcinoma sclerosing liposarcoma scoliosis sensorineural hearing loss skin melanoma small intestine cancer spastic diplegia spastic monoplegia spastic quadriplegic cerebral palsy spindle cell hemangioma spindle cell sarcoma status epilepticus steatotic liver disease stomach cancer stomach carcinoma subependymal giant cell astrocytoma tanycytic ependymoma telangiectatic osteogenic sarcoma tendinitis thrombophilia thyroid adenoma thyroid cancer thyroid gland anaplastic carcinoma thyroid gland carcinoma thyroid gland disease thyroid gland follicular carcinoma transitional cell carcinoma trilateral retinoblastoma tubular adenocarcinoma uremia urticaria pigmentosa visual epilepsy von Hippel-Lindau disease vulvar dystrophy well-differentiated liposarcoma
3417	isocitrate dehydrogenase (NADP(+)) 1	IDH1	2-hydroxyglutaric aciduria 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 B-cell lymphoma Cenani-Lenz syndactyly syndrome Chediak-Higashi syndrome Crohn's colitis Crohn's disease D-2-hydroxyglutaric aciduria Huntington's disease-like 1 Huntington's disease-like 2 Huntington's disease Langerhans-cell histiocytosis Laron syndrome Li-Fraumeni syndrome 1 Li-Fraumeni syndrome Maffucci syndrome Marfan syndrome Nijmegen breakage syndrome Ollier disease Pelger-Huet anomaly Pick's disease Reye syndrome Richter's syndrome T-cell acute lymphoblastic leukemia achondroplasia acoustic neuroma acquired immunodeficiency syndrome acute biphenotypic leukemia acute leukemia acute lymphoblastic leukemia acute monocytic leukemia acute myeloid leukemia acute promyelocytic leukemia adamantinous craniopharyngioma adenocarcinoma adenoid cystic carcinoma adenoma adrenal cortex cancer adrenal gland cancer adult acute lymphocytic leukemia adult astrocytic tumor adult fibrosarcoma adult lymphoma adult medulloblastoma adult oligodendroglioma alpha thalassemia-X-linked intellectual disability syndrome anaplastic astrocytoma anemia angioimmunoblastic T-cell lymphoma angiokeratoma aortic valve insufficiency aromatase excess syndrome astroblastoma ataxia with oculomotor apraxia type 1 atypical chronic myeloid leukemia, BCR-ABL1 negative autoimmune disease benign ependymoma benign giant cell tumor bile duct adenocarcinoma bile duct carcinoma biliary tract cancer bipolar disorder bladder urothelial carcinoma bone cancer bone marrow cancer bone osteosarcoma brain cancer brain stem glioma breast adenocarcinoma breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer carcinoma cataract 4 multiple types cavernous hemangioma cellular ependymoma central nervous system cancer central nervous system lymphoma central neurocytoma cerebellar liponeurocytoma cerebral degeneration cerebral palsy cherubism childhood acute lymphocytic leukemia childhood acute myeloid leukemia childhood astrocytic tumor childhood cerebral astrocytoma childhood ependymoma childhood leukemia childhood lymphoma childhood medulloblastoma childhood oligodendroglioma childhood osteosarcoma childhood pilocytic astrocytoma cholangiocarcinoma cholangiolocellular carcinoma chondroblastic osteosarcoma chondroma chondrosarcoma chordoma chorioangioma chromophobe renal cell carcinoma chronic lymphocytic leukemia chronic monocytic leukemia chronic myeloid leukemia chronic ulcer of skin clear cell renal cell carcinoma collecting duct carcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma connective tissue benign neoplasm cranial nerve disease cranial nerve palsy craniopharyngioma cribriform carcinoma degenerative disc disease dementia demyelinating polyneuropathy diffuse infiltrative lymphocytosis syndrome diffuse large B-cell lymphoma dilated cardiomyopathy 1A dilated cardiomyopathy disease of mental health disease of metabolism distal arthrogryposis duodenum cancer dysembryoplastic neuroepithelial tumor dysplastic nevus syndrome embryoma embryonal cancer endometrial cancer endometrial carcinoma epilepsy epithelioid sarcoma esophagus squamous cell carcinoma essential thrombocythemia exanthem exostosis familial retinoblastoma fibrillary astrocytoma fibrosarcoma follicular adenoma gallbladder cancer gallbladder carcinoma ganglioglioma gastrointestinal system cancer gemistocytic astrocytoma germ cell and embryonal cancer germ cell cancer giant cell glioblastoma glioblastoma gliomatosis cerebri gliosarcoma glomus tumor goiter granular cell carcinoma heart cancer hemangioma hematologic cancer hemiplegia hepatocellular carcinoma hepatocellular clear cell carcinoma hereditary multiple exostoses hidradenitis suppurativa hidradenitis high grade glioma histiocytoid hemangioma human immunodeficiency virus infectious disease inflammatory bowel disease 1 inflammatory bowel disease inflammatory liposarcoma intellectual disability intrahepatic cholangiocarcinoma intramuscular hemangioma invasive ductal carcinoma invasive lobular carcinoma juvenile pilocytic astrocytoma kidney cancer large intestine cancer learning disability leukemia liver cancer liver carcinoma liver cirrhosis lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma lung small cell carcinoma lung squamous cell carcinoma lymphangioma lymphoblastic lymphoma lymphoid leukemia lymphoma macrocytic anemia malignant astrocytoma malignant fibrous histiocytoma medulloblastoma medullomyoblastoma melanoma melanotic medulloblastoma meningioma microcystic adenoma microphthalmia mixed glioma mixed oligodendroglioma-astrocytoma monocytic leukemia mononeuritis multiplex mononeuropathy multiple myeloma myelodysplastic syndrome myelofibrosis myeloid leukemia myeloproliferative neoplasm myxopapillary ependymoma nervous system cancer neurofibromatosis 1 neurofibromatosis neuropathy non-Hodgkin lymphoma nonpapillary renal cell carcinoma nontoxic goiter obsolete Matthew-Wood syndrome obsolete ymphosarcoma oligodendroglioma osteosarcoma ovarian cancer ovarian carcinoma pancreatic cancer pancreatic carcinoma pancreatic ductal adenocarcinoma papillary adenocarcinoma papillary adenoma papillary craniopharyngioma papillary ependymoma papillary renal cell carcinoma paraganglioma parathyroid adenoma parathyroid carcinoma paroxysmal nocturnal hemoglobinuria patent ductus arteriosus periarthritis peripheral T-cell lymphoma peripheral nervous system disease pheochromocytoma pilocytic astrocytoma of cerebellum pilocytic astrocytoma pituitary adenoma pituitary cancer pituitary carcinoma plasmacytoma pleomorphic xanthoastrocytoma polycythemia vera polycythemia polyneuropathy pompholyx primary immunodeficiency disease prostate adenocarcinoma prostate cancer prostate carcinoma protoplasmic astrocytoma psychotic disorder renal carcinoma renal cell carcinoma respiratory failure reticulosarcoma retinoblastoma rheumatic fever salivary gland adenoid cystic carcinoma sarcoma sarcomatoid carcinoma sarcomatoid renal cell carcinoma sclerosing liposarcoma scoliosis situs inversus skin melanoma small intestine cancer spastic diplegia spastic monoplegia spastic quadriplegic cerebral palsy spindle cell hemangioma spindle cell sarcoma squamous cell carcinoma status epilepticus stomach cancer stomach carcinoma subependymal giant cell astrocytoma supratentorial cancer tanycytic ependymoma tendinitis thalamic neoplasm thrombophilia thyroid adenoma thyroid cancer thyroid gland anaplastic carcinoma thyroid gland carcinoma thyroid gland disease thyroid gland follicular carcinoma thyroid gland papillary carcinoma tongue squamous cell carcinoma trilateral retinoblastoma tuberous sclerosis tubular adenocarcinoma ulcerative colitis uterine corpus cancer uveal melanoma vascular cancer visual epilepsy vulvar dystrophy well-differentiated liposarcoma
79944	L-2-hydroxyglutarate dehydrogenase	L2HGDH 2-hydroxyglutarate dehydrogenase FLJ12618	2-hydroxyglutaric aciduria D-2-hydroxyglutaric aciduria 1 D-2-hydroxyglutaric aciduria L-2-hydroxyglutaric aciduria brain cancer cerebellar ataxia chromophobe renal cell carcinoma clear cell renal cell carcinoma collecting duct carcinoma congenital nystagmus disease of metabolism dissociated nystagmus dystonia encephalitis encephalomyelitis epilepsy giant cell glioblastoma glioblastoma hereditary spastic paraplegia high grade glioma hypertropia intellectual disability learning disability mechanical strabismus myelitis nervous system cancer neurodegenerative disease nonpapillary renal cell carcinoma ophthalmoplegia optic atrophy papillary renal cell carcinoma pathologic nystagmus renal carcinoma renal cell carcinoma sarcomatoid renal cell carcinoma sensorineural hearing loss spontaneous ocular nystagmus strabismus syndromic X-linked intellectual disability 94 vascular dementia visual epilepsy
8455	attractin	ATRN DPPT-L MGCA mahogany protein	3-methylglutaconic aciduria type 3 Barth syndrome allergic asthma anaplastic astrocytoma asthma cancer cardiomyopathy central nervous system cancer childhood cerebral astrocytoma endomyocardial fibrosis fibrillary astrocytoma gemistocytic astrocytoma gliosarcoma high grade glioma hypertrophic cardiomyopathy intrinsic asthma juvenile pilocytic astrocytoma leukodystrophy malignant astrocytoma mixed glioma obesity pilocytic astrocytoma protoplasmic astrocytoma restless legs syndrome skin benign neoplasm skin cancer squamous cell carcinoma subependymal giant cell astrocytoma tongue squamous cell carcinoma
8803	succinate-CoA ligase ADP-forming subunit beta	SUCLA2 succinate--CoA ligase (ADP-forming)	3-methylglutaconic aciduria type 4 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 3 Alzheimer's disease 5 Alzheimer's disease 6 Alzheimer's disease 7 Alzheimer's disease 8 Alzheimer's disease Creutzfeldt-Jakob disease Crohn's colitis Crohn's disease Down syndrome Grn-related frontotemporal lobar degeneration with Tdp43 inclusions Laron syndrome Leigh disease Lewy body dementia Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Pick's disease Reye syndrome achondroplasia age related macular degeneration alternating hemiplegia of childhood amnestic disorder amyloidosis arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease atherosclerosis autonomic neuropathy blindness central nervous system disease cerebral degeneration congenital ptosis congestive heart failure coronary artery disease cutaneous porphyria degeneration of macula and posterior pole dementia depressive disorder diabetes mellitus diabetic ketoacidosis dissociative amnesia dysthymic disorder dystonia enterocele epilepsy erythropoietic protoporphyria familial retinoblastoma focal hand dystonia frontotemporal dementia generalized dystonia herpes simplex hydrocephalus hypertropia inflammatory bowel disease 1 inflammatory bowel disease isolated elevated serum creatine phosphokinase levels lactic acidosis leukopenia lingual-facial-buccal dyskinesia macular degeneration major depressive disorder mechanical strabismus melancholic depression methylmalonic acidemia microcephaly mitochondrial DNA depletion syndrome 5 mitochondrial DNA depletion syndrome 9 mitochondrial DNA depletion syndrome mitochondrial encephalomyopathy movement disease nervous system disease neuroblastoma neurodegenerative disease neuropathy neurotic disorder obesity obsolete melancholia ophthalmoplegia parasitic helminthiasis infectious disease peripheral nervous system disease ptosis retinoblastoma retrocochlear disease retrograde amnesia sensorineural hearing loss sideroblastic anemia 1 strabismus trichohepatoenteric syndrome 1 trichohepatoenteric syndrome trilateral retinoblastoma tuberculosis type 2 diabetes mellitus ulcerative colitis vascular dementia visual epilepsy
1892	enoyl-CoA hydratase, short chain 1	ECHS1 SCEH short chain enoyl-CoA hydratase	3-methylglutaconic aciduria Balo concentric sclerosis Hailey-Hailey disease Leigh disease Rothmund-Thomson syndrome adrenoleukodystrophy alcohol dependence alcohol use disorder anemia autosomal dominant cutis laxa 1 autosomal dominant cutis laxa 2 autosomal dominant cutis laxa 3 autosomal dominant cutis laxa autosomal recessive cutis laxa type IA autosomal recessive cutis laxa type IB autosomal recessive cutis laxa type II classic type autosomal recessive cutis laxa type IIA autosomal recessive cutis laxa type IIB autosomal recessive cutis laxa type IIC autosomal recessive cutis laxa type IID autosomal recessive cutis laxa type IIIA autosomal recessive cutis laxa type IIIB breast cancer breast carcinoma cancer cardiomyopathy central nervous system disease childhood onset GLUT1 deficiency syndrome 2 chromophobe renal cell carcinoma clear cell renal cell carcinoma collecting duct carcinoma cone-rod dystrophy congenital nystagmus congenital ptosis cutis laxa disease of metabolism dissociated nystagmus dystonia embryoma endomyocardial fibrosis epilepsy familial hypertrophic cardiomyopathy focal hand dystonia fundus albipunctatus generalized dystonia giant cell glioblastoma glioblastoma hepatitis A hepatitis hepatocellular carcinoma high grade glioma hypertrichosis hypertrophic cardiomyopathy hypertropia inherited metabolic disorder lactic acidosis leukodystrophy lingual-facial-buccal dyskinesia liver cancer liver carcinoma macrocytic anemia mal de Meleda mechanical strabismus mitochondrial metabolism disease narcolepsy nervous system disease neuropathy nonpapillary renal cell carcinoma obesity ophthalmoplegia optic atrophy overnutrition papillary renal cell carcinoma pathologic nystagmus peripheral nervous system disease periventricular leukomalacia ptosis pyruvate carboxylase deficiency disease pyruvate decarboxylase deficiency renal carcinoma renal cell carcinoma restrictive dermopathy retinitis pigmentosa sarcomatoid renal cell carcinoma sensorineural hearing loss spontaneous ocular nystagmus stomach cancer stomach carcinoma strabismus syndromic X-linked intellectual disability 94 ventricular septal defect visual epilepsy
1717	7-dehydrocholesterol reductase	DHCR7	3-methylglutaconic aciduria Behcet's disease Dandy-Walker syndrome Hailey-Hailey disease Laron syndrome Marfan syndrome Meckel syndrome Potter's syndrome Rapp-Hodgkin syndrome Rothmund-Thomson syndrome Smith-Lemli-Opitz syndrome X-linked ichthyosis achondroplasia ankyloblepharon-ectodermal defects-cleft lip/palate syndrome arteriosclerotic cardiovascular disease atherosclerosis atrioventricular septal defect autism spectrum disorder autistic disorder autoimmune disease autoimmune lymphoproliferative syndrome autosomal dominant cutis laxa 1 autosomal dominant cutis laxa 2 autosomal dominant cutis laxa 3 autosomal dominant cutis laxa autosomal dominant polycystic kidney disease autosomal recessive cutis laxa type IA autosomal recessive cutis laxa type IB autosomal recessive cutis laxa type II classic type autosomal recessive cutis laxa type IIA autosomal recessive cutis laxa type IIB autosomal recessive cutis laxa type IIC autosomal recessive cutis laxa type IID autosomal recessive cutis laxa type IIIA autosomal recessive cutis laxa type IIIB bilateral optic nerve hypoplasia bilateral renal aplasia cardiovascular system disease choanal atresia coloboma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer congenital disorder of glycosylation type II congenital disorder of glycosylation type IIc coronary artery disease cutis laxa dermatitis diabetes mellitus diabetic ketoacidosis fissured tongue glaucoma glycoproteinosis heart disease hepatitis C hepatocellular carcinoma hydrocephalus hypohidrotic ectodermal dysplasia hypospadias immune system disease intellectual disability interstitial nephritis large intestine cancer learning disability leukocyte adhesion deficiency 2 leukocyte adhesion deficiency lingual-facial-buccal dyskinesia liver cancer liver cirrhosis mal de Meleda microcephaly movement disease multiple sclerosis nutmeg liver obsolete type 1 diabetes mellitus 9 oligohydramnios osteomalacia periventricular nodular heterotopia photosensitive epilepsy photosensitivity disease placental insufficiency polycystic ovary syndrome polydactyly polyhydramnios pyelitis pyelonephritis restrictive dermopathy rheumatoid arthritis rickets scoliosis sensorineural hearing loss situs inversus syndromic X-linked intellectual disability type 10 tongue disease 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 ventricular septal defect
55750	acylglycerol kinase	AGK FLJ10842	3-methylglutaconic aciduria Chanarin-Dorfman syndrome Sengers syndrome agnosia 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 breast cancer breast carcinoma cancer cardiomyopathy cataract 1 multiple types cataract 10 multiple types cataract 11 multiple types cataract 12 multiple types cataract 13 with adult i phenotype cataract 14 multiple types cataract 15 multiple types cataract 16 multiple types cataract 17 multiple types cataract 18 cataract 19 multiple types cataract 2 multiple types cataract 20 multiple types cataract 21 multiple types cataract 22 multiple types cataract 23 cataract 24 cataract 25 cataract 26 multiple types cataract 27 cataract 29 cataract 3 multiple types cataract 30 cataract 31 multiple types cataract 32 multiple types cataract 33 cataract 34 multiple types cataract 35 cataract 37 cataract 38 cataract 39 multiple types cataract 4 multiple types cataract 40 cataract 41 cataract 42 cataract 43 cataract 44 cataract 45 cataract 46 juvenile-onset cataract 5 multiple types cataract 6 multiple types cataract 7 cataract 8 multiple types cataract 9 multiple types cataract central nervous system cancer cervical squamous cell carcinoma cervix uteri carcinoma in situ congenital muscular dystrophy congenital nystagmus corneal dystrophy developmental coordination disorder dissociated nystagmus distal myopathy embryoma endomyocardial fibrosis esophagus squamous cell carcinoma facioscapulohumeral muscular dystrophy familial hypertrophic cardiomyopathy familial periodic paralysis glaucoma gliosarcoma high grade glioma hypertrophic cardiomyopathy hypertropia lactic acidosis limb-girdle muscular dystrophy mechanical strabismus mitochondrial DNA depletion syndrome 12b mitochondrial metabolism disease mitochondrial myopathy mixed glioma muscular dystrophy myopathy myopia nasopharynx 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 oculopharyngeal muscular dystrophy ophthalmoplegia papillary adenocarcinoma papillary renal cell carcinoma pathologic nystagmus prostate cancer prostate carcinoma spontaneous ocular nystagmus squamous cell carcinoma strabismus thyroid adenoma thyroid cancer thyroid gland carcinoma thyroid gland papillary carcinoma tongue squamous cell carcinoma trichohepatoenteric syndrome 1
36	acyl-CoA dehydrogenase short/branched chain	ACADSB ACAD7 SBCAD	3-methylglutaconic aciduria Smith-Lemli-Opitz syndrome agnosia alternating exotropia autistic disorder breast cancer breast carcinoma developmental coordination disorder diabetes mellitus diabetic ketoacidosis epilepsy essential hypertension exotropia familial hyperlipidemia hepatocellular carcinoma hypertension hypoglycemia liver cancer microcephaly monocular exotropia short chain acyl-CoA dehydrogenase deficiency syndromic X-linked intellectual disability type 10 visual epilepsy
5648	MBL associated serine protease 1	MASP1 C4/C2 activating component of Ra-reactive factor MAP-1 MASP MASP-3 Map44 mannose-binding lectin-associated serine protease 1	3MC syndrome 1 3MC syndrome 2 3MC syndrome 3 3MC syndrome 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 Bloch-Sulzberger syndrome Klippel-Feil syndrome Lewy body dementia Marfan syndrome Pick's disease Reye syndrome acute myocardial infarction age related macular degeneration amyotrophic lateral sclerosis type 1 amyotrophic lateral sclerosis type 6 arthritis arthropathy 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 atypical hemolytic-uremic syndrome bacterial infectious disease bacterial sepsis blepharophimosis blindness cancer cardiovascular system disease cerebral degeneration cerebral infarction cerebrovascular disease cervical adenocarcinoma cervical cancer cervix carcinoma cleft lip cleft palate cleidocranial dysplasia congenital ptosis coronary thrombosis craniosynostosis cryptorchidism cystic fibrosis degeneration of macula and posterior pole diabetes mellitus diabetic ketoacidosis disseminated intravascular coagulation esophagus squamous cell carcinoma gallbladder disease glaucoma glomerulonephritis heart disease hemolytic-uremic syndrome hepatitis C humeroradial synostosis hydronephrosis hypomelanosis of Ito inclusion body myopathy with Paget disease of bone and frontotemporal dementia inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1 intellectual disability isolated cleft palate kidney disease kidney failure learning disability liver cirrhosis liver disease lung squamous cell carcinoma lupus erythematosus macular degeneration microcephaly multiple sclerosis myocardial infarction nephritis omphalocele patent ductus arteriosus patent foramen ovale placental insufficiency prostate cancer prostate carcinoma ptosis pulmonary tuberculosis purpura fulminans radioulnar synostosis rheumatoid arthritis scoliosis sensorineural hearing loss silent myocardial infarction situs inversus spina bifida occulta spondylolisthesis squamous cell carcinoma systemic lupus erythematosus tongue squamous cell carcinoma tuberculosis tuberculous pneumothorax tuberous sclerosis type 2 diabetes mellitus umbilical hernia uremia vascular dementia ventricular septal defect
78989	collectin subfamily member 11	COLEC11 CL-11 CL-K1 Collectin K1 MGC3279	3MC syndrome 1 3MC syndrome 2 3MC syndrome 3 3MC syndrome Bloch-Sulzberger syndrome Chagas disease Klippel-Feil syndrome acquired immunodeficiency syndrome bacterial infectious disease bacterial sepsis blepharophimosis cleft lip cleft palate cleidocranial dysplasia congenital ptosis craniosynostosis cryptorchidism disseminated intravascular coagulation enterobiasis glomerulonephritis human immunodeficiency virus infectious disease humeroradial synostosis hypertropia hypomelanosis of Ito intellectual disability intestinal schistosomiasis isolated cleft palate kidney disease learning disability mechanical strabismus nephritis nephrosis neurodegenerative disease omphalocele ophthalmoplegia pneumonia ptosis purpura fulminans pyoureter radioulnar synostosis schistosomiasis scoliosis sensorineural hearing loss spina bifida occulta spondylolisthesis strabismus trichinosis trypanosomiasis tuberculosis umbilical hernia urinary schistosomiasis viral infectious disease
10584	collectin subfamily member 10	COLEC10 CL-10 CL-L1	3MC syndrome 3 3MC syndrome Klippel-Feil syndrome Laron syndrome Richter's syndrome achondroplasia acute leukemia acute lymphoblastic leukemia acute myeloid leukemia allergic asthma asthma basal cell carcinoma blepharophimosis cancer carcinoma chronic lymphocytic leukemia cleft lip cleft palate cleidocranial dysplasia congenital ptosis craniosynostosis cryptorchidism essential thrombocythemia hepatocellular carcinoma humeroradial synostosis intellectual disability isolated cleft palate learning disability liver cancer lymphoblastic lymphoma lymphoplasmacytic lymphoma macroglobulinemia monoclonal gammopathy of uncertain significance multiple myeloma myelodysplastic syndrome obsolete lymphoplasmacytic lymphoma omphalocele ptosis radioulnar synostosis scoliosis sebaceous carcinoma sensorineural hearing loss spina bifida occulta spondylolisthesis sweat gland cancer umbilical hernia
1583	cytochrome P450 family 11 subfamily A member 1	CYP11A1 P450SCC cholesterol monooxygenase (side-chain-cleaving)	3p deletion syndrome 46,XY sex reversal Addison's disease 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 Angelman syndrome Bannayan-Riley-Ruvalcaba syndrome Bartter disease Cockayne syndrome Conn's syndrome Cornelia de Lange syndrome Cowden syndrome Dubowitz syndrome Fanconi anemia NFIA-related disorder Niemann-Pick disease 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 Pick's disease Prader-Willi syndrome Reye syndrome Robinow syndrome SATB2-associated syndrome Seckel syndrome Sertoli cell-only syndrome Silver-Russell syndrome Smith-Magenis syndrome Waterhouse-Friderichsen syndrome X-linked Aarskog syndrome X-linked adrenal hypoplasia congenita X-linked spermatogenic failure 1 adenocarcinoma adenoma adrenal adenoma adrenal carcinoma adrenal cortex cancer adrenal cortical hypofunction adrenocortical carcinoma allergic asthma asthma 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 autoimmune hepatitis autosomal dominant Robinow syndrome 1 autosomal dominant Robinow syndrome 2 autosomal dominant Robinow syndrome 3 autosomal recessive Robinow syndrome breast cancer breast carcinoma breast disease breast fibrocystic disease cancer cerebral degeneration cholera chondrodysplasia-pseudohermaphroditism syndrome choriocarcinoma 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 chronic ethmoiditis chronic sphenoidal sinusitis congenital adrenal hyperplasia congenital adrenal insufficiency cryptorchidism diabetes mellitus disorder of sexual development distal 10q deletion syndrome endometrial cancer endometrial carcinoma endometrial hyperplasia endometriosis of uterus endometriosis epilepsy esophagus squamous cell carcinoma essential hypertension focal epilepsy follicular adenoma gynecomastia hepatitis hepatocellular carcinoma hermaphroditism herpes zoster hyperandrogenism hyperglycemia hypertension hypertrophy of breast hypogonadism hypogonadotropic hypogonadism 23 with or without anosmia hypospadias inclusion body myositis infant gynecomastia intrinsic asthma kidney disease lactic acidosis lactocele lesion of sciatic nerve liver cancer microcephalic osteodysplastic primordial dwarfism type I microcephalic osteodysplastic primordial dwarfism type II microcystic adenoma microglandular adenosis nephrosis nodular prostate obesity osteoporosis ovarian hyperstimulation syndrome papillary adenoma partial motor epilepsy patent foramen ovale placenta cancer placental insufficiency polycystic ovary syndrome primary hyperaldosteronism prostate cancer prostate carcinoma prostatic adenoma pseudohermaphroditism sciatic neuropathy sphingolipidosis status epilepticus trichohepatoenteric syndrome 1 trichohepatoenteric syndrome type 2 diabetes mellitus uterine corpus cancer visual epilepsy
5621	prion protein (Kanno blood group)	PRNP AltPrP CD230 Creutzfeldt-Jakob disease Gerstmann-Strausler-Scheinker syndrome PRP fatal familial insomnia p27-30	3p deletion syndrome Alpers-Huttenlocher syndrome 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 Angelman syndrome Balo concentric sclerosis Bernard-Soulier 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 Chediak-Higashi syndrome Cockayne syndrome Cornelia de Lange syndrome Creutzfeldt-Jakob disease Down syndrome Dubowitz syndrome Friedreich ataxia Gerstmann-Straussler-Scheinker syndrome Grn-related frontotemporal lobar degeneration with Tdp43 inclusions Horner's syndrome Huntington's disease-like 1 Huntington's disease-like 2 Huntington's disease ITM2B-related cerebral amyloid angiopathy 1 Japanese encephalitis Kennedy's disease Lewy body dementia MYH-9 related disease Marfan syndrome NFIA-related disorder Noonan syndrome 10 Noonan syndrome 1 Noonan syndrome 2 Noonan syndrome 3 Noonan syndrome 4 Noonan syndrome 5 Noonan syndrome 6 Noonan syndrome 7 Noonan syndrome 8 Noonan syndrome 9 Noonan syndrome Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Pelger-Huet anomaly Pick's disease Prader-Willi syndrome REM sleep behavior disorder Reye syndrome Robinow syndrome SATB2-associated syndrome Seckel syndrome Silver-Russell syndrome Smith-Magenis syndrome Unverricht-Lundborg syndrome Wilson disease X-linked Aarskog syndrome acoustic neuroma acquired immunodeficiency syndrome acute myocardial infarction adenocarcinoma adenoma adrenoleukodystrophy agenesis of the corpus callosum with peripheral neuropathy agnosia akinetic mutism alcoholic hepatitis allergic asthma alopecia alternating hemiplegia of childhood amnestic disorder amyloidosis amyotrophic lateral sclerosis anaplastic astrocytoma androgenic alopecia anxiety disorder aphasia apraxia arachnoiditis arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease arthritis arthropathy asthma atherosclerosis attention deficit hyperactivity disorder autonomic neuropathy autosomal dominant Robinow syndrome 1 autosomal dominant Robinow syndrome 2 autosomal dominant Robinow syndrome 3 autosomal dominant cerebellar ataxia autosomal recessive Robinow syndrome bipolar disorder blepharospasm blindness bone osteosarcoma brain disease brain ischemia brain stem infarction breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer carcinoma cellular schwannoma central nervous system cancer central nervous system disease cerebellar ataxia cerebellar disease cerebral amyloid angiopathy cerebral artery occlusion cerebral degeneration cerebral infarction cerebrovascular disease childhood cerebral astrocytoma childhood osteosarcoma chondrodysplasia-pseudohermaphroditism syndrome chondrosarcoma choreatic disease chromophobe renal cell carcinoma 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 chronic kidney disease chronic obstructive pulmonary disease chronic wasting disease clear cell renal cell carcinoma collecting duct carcinoma colorectal cancer colorectal carcinoma common wart complex partial epilepsy cone-rod dystrophy congenital diarrhea 5 with tufting enteropathy congenital nystagmus conversion disorder coronary artery disease coronary thrombosis cribriform carcinoma critical illness polyneuropathy cystic fibrosis dementia demyelinating polyneuropathy dengue disease dentatorubral-pallidoluysian atrophy depressive disorder diabetic cataract diabetic retinopathy diarrhea dissociated nystagmus dissociative disorder distal 10q deletion syndrome dysthymic disorder early myoclonic encephalopathy embryoma encephalitis encephalomyelitis epilepsy essential hypertension factor VIII deficiency familial mediterranean fever familial periodic paralysis fatal familial insomnia fibrillary astrocytoma focal hand dystonia frontotemporal dementia frozen shoulder fundus albipunctatus gemistocytic astrocytoma generalized anxiety disorder giant cell glioblastoma glaucoma glioblastoma gliosarcoma granular cell carcinoma head and neck squamous cell carcinoma hemochromatosis hepatitis B hepatitis C hepatocellular carcinoma hereditary ataxia hereditary neuropathy with liability to pressure palsies high grade glioma human immunodeficiency virus infectious disease hydrocephalus hyperekplexia 1 hyperekplexia 2 hyperekplexia 3 hyperekplexia hyperglycemia hypertension hypothalamic disease inclusion body myositis inflammatory and toxic neuropathy inflammatory bowel disease influenza intrinsic asthma iron metabolism disease juvenile pilocytic astrocytoma juvenile rheumatoid arthritis kuru large intestine cancer lingual-facial-buccal dyskinesia liver cancer lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma major depressive disorder malignant astrocytoma malignant peripheral nerve sheath tumor melancholic depression melanoma melanotic neurilemmoma meningitis meningoencephalitis mevalonic aciduria microcephalic osteodysplastic primordial dwarfism type I microcephalic osteodysplastic primordial dwarfism type II microphthalmia migraine mixed glioma mood disorder motor peripheral neuropathy movement disease multiple sclerosis multiple system atrophy myelitis myocardial infarction myopathy myotonic disease myotonic dystrophy type 1 myotonic dystrophy type 2 narcolepsy neovascular glaucoma nervous system disease neurilemmoma neuroblastoma neurodegenerative disease neuropathy neurotic disorder normal pressure hydrocephalus obesity obsolete Alpers syndrome obsolete Matthew-Wood syndrome obsolete constipation obsolete hereditary motor and sensory neuropathy with agenesis of the corpus callosum obsolete melancholia ocular hypotension osteoarthritis osteosarcoma ovarian cancer ovarian carcinoma pancreatic cancer pancreatic carcinoma pancreatic ductal adenocarcinoma papillary renal cell carcinoma parathyroid gland disease paroxysmal nocturnal hemoglobinuria pathologic nystagmus peripheral nervous system disease pilocytic astrocytoma pityriasis rubra pilaris placental insufficiency plexiform schwannoma polyneuropathy primary cerebellar degeneration primary cutaneous amyloidosis primary open angle glaucoma prion disease progressive multifocal leukoencephalopathy progressive muscular atrophy progressive myoclonus epilepsy 1A progressive myoclonus epilepsy 4 progressive myoclonus epilepsy progressive supranuclear palsy prostate cancer prostate carcinoma protoplasmic astrocytoma psychotic disorder qualitative platelet defect radial nerve lesion radial neuropathy recurrent hypersomnia renal carcinoma renal cell carcinoma retinitis pigmentosa retrograde amnesia sarcomatoid carcinoma sarcomatoid renal cell carcinoma schizoaffective disorder schizophrenia schizophreniform disorder scrapie secondary Parkinson disease sickle cell anemia silent myocardial infarction situs inversus skin melanoma spinal muscular atrophy spinocerebellar ataxia type 31 spinocerebellar ataxia type 7 spontaneous ocular nystagmus squamous cell carcinoma stomach cancer stomach carcinoma subependymal giant cell astrocytoma sudden infant death syndrome syndromic X-linked intellectual disability type 10 synovitis tauopathy temporal lobe epilepsy tendinitis tenosynovitis tongue squamous cell carcinoma trichohepatoenteric syndrome 1 trichohepatoenteric syndrome trigeminal neuralgia tuberous sclerosis tubular adenocarcinoma vascular dementia vestibular nystagmus viral infectious disease visual epilepsy vitiligo yellow fever
5048	platelet activating factor acetylhydrolase 1b regulatory subunit 1	PAFAH1B1 LIS1 NudF PAFAH lissencephaly-1	3p deletion syndrome Alzheimer's disease Angelman syndrome B-cell lymphoma Behcet's disease Crohn's colitis Crohn's disease Ewing sarcoma Gaucher's disease type I Gaucher's disease Hodgkin's granuloma Hodgkin's lymphoma, lymphocytic depletion Hodgkin's lymphoma, lymphocytic-histiocytic predominance Hodgkin's lymphoma, mixed cellularity Hodgkin's lymphoma Joubert syndrome Langerhans-cell histiocytosis Marfan syndrome Miller-Dieker lissencephaly syndrome NFIA-related disorder Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease REM sleep behavior disorder Rett syndrome SATB2-associated syndrome Shwachman-Diamond syndrome Smith-Magenis syndrome West syndrome X-linked juvenile retinoschisis 1 Zellweger syndrome acute monocytic leukemia acute myeloid leukemia adult medulloblastoma adult respiratory distress syndrome aggressive periodontitis allergic asthma alternating hemiplegia of childhood anxiety disorder aplastic anemia asthma autism spectrum disorder autistic disorder autonomic neuropathy bone marrow cancer bone osteosarcoma bronchus cancer bronchus carcinoma cancer central nervous system disease childhood acute myeloid leukemia childhood leukemia childhood medulloblastoma childhood osteosarcoma chromophobe renal cell carcinoma 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 17p13.1 deletion syndrome chromosome 17p13.3 duplication 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 chronic monocytic leukemia chronic myelomonocytic leukemia 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 congestive heart failure cortical dysplasia-focal epilepsy syndrome dementia depressive disorder distal 10q deletion syndrome distal arthrogryposis dysthymic disorder dystonia embryoma epilepsy essential thrombocythemia essential tremor familial adenomatous polyposis 1 familial adenomatous polyposis generalized anxiety disorder giant cell glioblastoma glioblastoma glomerulonephritis hematologic cancer hepatocellular carcinoma high grade glioma hydranencephaly hydrocephalus impulse control disorder inclusion body myositis inflammatory bowel disease 1 inflammatory bowel disease inguinal hernia intellectual disability intermittent explosive disorder intrinsic asthma islet cell tumor juvenile myelomonocytic leukemia kidney disease kleptomania late onset Parkinson's disease learning disability leukemia lingual-facial-buccal dyskinesia lissencephaly 1 lissencephaly liver cancer lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma lymphoma major depressive disorder medulloblastoma medullomyoblastoma melancholic depression melanotic medulloblastoma microcephaly mood disorder movement disease multiple myeloma multiple system atrophy myelodysplastic syndrome myelodysplastic/myeloproliferative neoplasm myeloproliferative neoplasm nephritis nephrosis nervous system disease neurotic disorder newborn respiratory distress syndrome non-Hodgkin lymphoma nonpapillary renal cell carcinoma obsolete constipation obsolete infantile epileptic encephalopathy obsolete melancholia obsolete ymphosarcoma obstructive hydrocephalus oculocerebrorenal syndrome omphalocele osteosarcoma papillary renal cell carcinoma periodontosis periventricular nodular heterotopia peroxisome biogenesis disorder 1A phobic disorder polycystic ovary syndrome polyhydramnios pontocerebellar hypoplasia type 2D pontocerebellar hypoplasia type 7 pontocerebellar hypoplasia type 8 pontocerebellar hypoplasia type 9 postural orthostatic tachycardia syndrome progressive supranuclear palsy psychotic disorder pyoureter renal carcinoma renal cell carcinoma reticulosarcoma retinitis pigmentosa 13 sarcomatoid renal cell carcinoma schizoaffective disorder schizophrenia schizophreniform disorder secondary Parkinson disease senile degeneration of brain septooptic dysplasia short-rib thoracic dysplasia 14 with polydactyly situs inversus speech disorder subcortical band heterotopia syndromic X-linked intellectual disability Najm type trichohepatoenteric syndrome 1 trichohepatoenteric syndrome tuberous sclerosis ulcerative colitis umbilical hernia vascular 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
1109	aldo-keto reductase family 1 member C4	AKR1C4 3-alpha hydroxysteroid dehydrogenase, type I 3-alpha-HSD C11 CDR DD4 HAKRA MGC22581 chlordecone reductase dihydrodiol dehydrogenase 4	46,XY sex reversal 8 46,XY sex reversal 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 3 Alzheimer's disease 5 Alzheimer's disease 6 Alzheimer's disease 7 Alzheimer's disease 8 Alzheimer's disease Baraitser-Winter syndrome Fraser syndrome Goldenhar syndrome Marfan syndrome Moebius syndrome Muenke Syndrome Nance-Horan syndrome Pick's disease Reye syndrome Richter's syndrome Sakati-Nyhan syndrome Smith-McCort dysplasia Warburg micro syndrome 1 Warburg micro syndrome 2 Warburg micro syndrome 3 Warburg micro syndrome 4 Weissenbacher-Zweymuller syndrome acute myeloid leukemia alcohol dependence alcohol use disorder alopecia amyloidosis androgenic alopecia anemia angle-closure glaucoma bacterial infectious disease bipolar disorder bladder carcinoma branchiootic syndrome breast cancer breast carcinoma cancer cerebral degeneration chikungunya childhood leukemia chronic closed-angle glaucoma chronic lymphocytic leukemia cryptorchidism delusional disorder dementia dengue hemorrhagic fever depressive disorder disorder of sexual development dysthymic disorder embryoma essential hypertension essential thrombocythemia follicular lymphoma glaucoma hepatocellular carcinoma hermaphroditism hypertension hypogonadotropic hypogonadism 23 with or without anosmia influenza leukemia liver cancer liver carcinoma lupus erythematosus macrocytic anemia major depressive disorder melancholic depression myelofibrosis neurotic disorder obsolete melancholia orofaciodigital syndrome I orofaciodigital syndrome X osteoporosis paranoid schizophrenia plasmacytoma polycythemia vera polycythemia primary angle-closure glaucoma primary ciliary dyskinesia 1 primary ciliary dyskinesia pseudohermaphroditism secondary Parkinson disease situs inversus systemic lupus erythematosus tuberous sclerosis urinary bladder cancer viral infectious disease
1646	aldo-keto reductase family 1 member C2	AKR1C2 BABP DD DD2 HAKRD MCDR2 dihydrodiol dehydrogenase 2; bile acid binding protein; 3-alpha hydroxysteroid dehydrogenase, type III	46,XY sex reversal 8 46,XY sex reversal 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 Barrett's esophagus Pick's disease Reye syndrome X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 adenocarcinoma adenoma amelogenesis imperfecta hypomaturation type 2A2 amelogenesis imperfecta hypomaturation type 2A3 amelogenesis imperfecta hypomaturation type 2A4 amelogenesis imperfecta hypomaturation type 2A5 amelogenesis imperfecta type 1A amelogenesis imperfecta type 1B amelogenesis imperfecta type 1C amelogenesis imperfecta type 1E amelogenesis imperfecta type 1F amelogenesis imperfecta type 1G amelogenesis imperfecta type 1H amelogenesis imperfecta type 2A1 amelogenesis imperfecta type 3A amelogenesis imperfecta type 4 amelogenesis imperfecta arthritis arthropathy benign mesothelioma breast cancer breast carcinoma cancer cerebral degeneration contact dermatitis cribriform carcinoma cryptorchidism dentin dysplasia dentinogenesis imperfecta depressive disorder diabetes mellitus diabetic ketoacidosis disorder of sexual development dysthymic disorder embryoma endometriosis of ovary endometriosis of uterus endometriosis esophagus adenocarcinoma esophagus squamous cell carcinoma granular cell carcinoma hepatocellular carcinoma hermaphroditism hypogonadotropic hypogonadism 23 with or without anosmia liver cancer liver carcinoma lung adenocarcinoma lung cancer lung non-small cell carcinoma lung squamous cell carcinoma major depressive disorder malignant mesothelioma melancholic depression neurotic disorder obesity obsolete melancholia occupational dermatitis osteoarthritis papillary adenocarcinoma papillary renal cell carcinoma polycystic ovary syndrome primary cutaneous amyloidosis prostate cancer prostate carcinoma pseudohermaphroditism squamous cell carcinoma thyroid adenoma thyroid cancer thyroid gland carcinoma thyroid gland papillary carcinoma tongue squamous cell carcinoma tubular adenocarcinoma type 2 diabetes mellitus urinary bladder cancer uterine disease
1584	cytochrome P450 family 11 subfamily B member 1	CYP11B1 CPN1 FHI P450C11 steroid 11-beta-monooxygenase	46,XY sex reversal ACTH-secreting pituitary adenoma Addison's disease Bartter disease Clouston syndrome Conn's syndrome Laron syndrome Liddle syndrome Waterhouse-Friderichsen syndrome X-linked adrenal hypoplasia congenita achondroplasia acute myocardial infarction adenocarcinoma adenoma adrenal adenoma adrenal carcinoma adrenal cortex cancer adrenal cortical adenoma adrenal cortical hypofunction adrenal gland cancer adrenal gland hyperfunction adrenocortical carcinoma aromatase excess syndrome autism spectrum disorder autistic disorder autoimmune hepatitis brain infarction breast cancer breast carcinoma cancer cardiovascular system disease cerebral infarction cerebrovascular disease chronic ethmoiditis chronic sphenoidal sinusitis clear cell renal cell carcinoma congenital adrenal hyperplasia congenital central hypoventilation syndrome congestive heart failure coronary thrombosis craniosynostosis cryptorchidism disease of metabolism disorder of sexual development essential hypertension follicular adenoma glucocorticoid-remediable aldosteronism gynecomastia heart disease hepatitis hermaphroditism hypertension hypertrichosis hypertrophy of breast hypokalemia infant gynecomastia kidney cancer microcystic adenoma myocardial infarction myocarditis obsolete Cushing's syndrome osteoporosis papillary adenoma pituitary-dependent Cushing's disease placental insufficiency polycystic ovary syndrome pre-eclampsia primary hyperaldosteronism proteinuria pseudohermaphroditism renal carcinoma renal cell carcinoma renal tubular acidosis silent myocardial infarction trichohepatoenteric syndrome 1 trichohepatoenteric syndrome
5743	prostaglandin-endoperoxide synthase 2	PTGS2 COX2 cyclooxygenase 2 prostaglandin G/H synthase 2	46,XY sex reversal Aicardi-Goutieres syndrome 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 3 Alzheimer's disease 5 Alzheimer's disease 6 Alzheimer's disease 7 Alzheimer's disease 8 Alzheimer's disease B-cell lymphoma Barrett's adenocarcinoma Barrett's esophagus Bartter disease Burkitt lymphoma Chagas disease Charcot-Marie-Tooth disease X-linked dominant 1 Charcot-Marie-Tooth disease X-linked dominant 6 Charcot-Marie-Tooth disease X-linked recessive 2 Charcot-Marie-Tooth disease X-linked recessive 3 Charcot-Marie-Tooth disease X-linked recessive 4 Charcot-Marie-Tooth disease X-linked recessive 5 Charcot-Marie-Tooth disease axonal type 2C Charcot-Marie-Tooth disease axonal type 2F Charcot-Marie-Tooth disease axonal type 2H Charcot-Marie-Tooth disease axonal type 2K Charcot-Marie-Tooth disease axonal type 2L Charcot-Marie-Tooth disease axonal type 2N Charcot-Marie-Tooth disease axonal type 2O Charcot-Marie-Tooth disease axonal type 2P Charcot-Marie-Tooth disease axonal type 2Q Charcot-Marie-Tooth disease axonal type 2T Charcot-Marie-Tooth disease axonal type 2U Charcot-Marie-Tooth disease dominant intermediate A Charcot-Marie-Tooth disease dominant intermediate B Charcot-Marie-Tooth disease dominant intermediate C Charcot-Marie-Tooth disease dominant intermediate D Charcot-Marie-Tooth disease dominant intermediate E Charcot-Marie-Tooth disease dominant intermediate F Charcot-Marie-Tooth disease recessive intermediate B Charcot-Marie-Tooth disease recessive intermediate C Charcot-Marie-Tooth disease recessive intermediate D Charcot-Marie-Tooth disease type 1A Charcot-Marie-Tooth disease type 1B Charcot-Marie-Tooth disease type 1C Charcot-Marie-Tooth disease type 1D Charcot-Marie-Tooth disease type 1E Charcot-Marie-Tooth disease type 1F Charcot-Marie-Tooth disease type 2A1 Charcot-Marie-Tooth disease type 2A2A Charcot-Marie-Tooth disease type 2B1 Charcot-Marie-Tooth disease type 2B2 Charcot-Marie-Tooth disease type 2B Charcot-Marie-Tooth disease type 2D Charcot-Marie-Tooth disease type 2E Charcot-Marie-Tooth disease type 2I Charcot-Marie-Tooth disease type 2J Charcot-Marie-Tooth disease type 2R Charcot-Marie-Tooth disease type 2Y Charcot-Marie-Tooth disease type 3 Charcot-Marie-Tooth disease type 4A Charcot-Marie-Tooth disease type 4B1 Charcot-Marie-Tooth disease type 4B2 Charcot-Marie-Tooth disease type 4B3 Charcot-Marie-Tooth disease type 4C Charcot-Marie-Tooth disease type 4D Charcot-Marie-Tooth disease type 4E Charcot-Marie-Tooth disease type 4F Charcot-Marie-Tooth disease type 4G Charcot-Marie-Tooth disease type 4H Charcot-Marie-Tooth disease type 4J Charcot-Marie-Tooth disease type 4K Charcot-Marie-Tooth disease Clostridium difficile colitis Clouston syndrome Conn's syndrome Creutzfeldt-Jakob disease Crohn's colitis Crohn's disease Cytomegalovirus retinitis Down syndrome Dyggve-Melchior-Clausen disease Ehlers-Danlos syndrome Evans' syndrome Ewing sarcoma Friedreich ataxia Gitelman syndrome Guillain-Barre syndrome Hantavirus hemorrhagic fever with renal syndrome Hodgkin's granuloma Hodgkin's lymphoma, lymphocytic depletion Hodgkin's lymphoma, lymphocytic-histiocytic predominance Hodgkin's lymphoma, mixed cellularity Hodgkin's lymphoma Huntington's disease-like 1 Huntington's disease-like 2 Huntington's disease Japanese encephalitis Kaposi's sarcoma Kawasaki disease Langerhans-cell histiocytosis Lewy body dementia Leydig cell tumor Liddle syndrome Lyme disease Lynch syndrome MHC class II deficiency Marfan syndrome Marinesco-Sjogren syndrome Meckel syndrome Miller Fisher syndrome Netherton syndrome Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Parkinsonism Peutz-Jeghers syndrome Pick's disease Plasmodium falciparum malaria Q fever Reye syndrome Richter's syndrome Shwachman-Diamond syndrome Stevens-Johnson syndrome Stickler syndrome Streptococcus pneumonia Van der Woude syndrome Wernicke encephalopathy abdominal aortic aneurysm abdominal obesity-metabolic syndrome 1 acne acoustic neuroma acquired hyperkeratosis acquired immunodeficiency syndrome acrodermatitis actinic keratosis acute chest syndrome acute interstitial pneumonia acute kidney failure acute kidney tubular necrosis acute lymphoblastic leukemia acute myeloid leukemia acute myocardial infarction acute myocarditis acute pancreatitis acute pericementitis acute promyelocytic leukemia acute pyelonephritis adenocarcinoma adenoid cystic carcinoma adenoma adenosarcoma adenosine deaminase deficiency adrenal gland cancer adult fibrosarcoma adult hepatocellular carcinoma adult lymphoma adult medulloblastoma adult oligodendroglioma adult respiratory distress syndrome agenesis of the corpus callosum with peripheral neuropathy aggressive periodontitis agnosia allergic asthma allergic rhinitis alopecia alternating hemiplegia of childhood ameloblastoma amnestic disorder ampulla of Vater carcinoma amyloidosis amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 amyotrophic lateral sclerosis anaplastic astrocytoma anemia angioedema angiomatous meningioma ankyloblepharon-ectodermal defects-cleft lip/palate syndrome ankylosing spondylitis anorexia nervosa anthracosilicosis anthracosis anxiety disorder aortic aneurysm aortic atherosclerosis aromatase excess syndrome arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease arthritis arthropathy asbestosis asphyxia neonatorum aspirin-induced respiratory disease asthma atherosclerosis atopic dermatitis atrial fibrillation atrophic gastritis atypical chronic myeloid leukemia, BCR-ABL1 negative atypical teratoid rhabdoid tumor autism spectrum disorder autistic disorder autoimmune disease autoimmune lymphoproliferative syndrome autoimmune thrombocytopenic purpura autoimmune thyroiditis autonomic neuropathy autosomal dominant polycystic kidney disease avian influenza bacterial infectious disease bacterial sepsis bagassosis basal cell carcinoma benign ependymoma benign meningioma benign mesothelioma bile duct adenocarcinoma bile duct cancer bile duct carcinoma bile reflux biliary tract cancer bipolar disorder bladder carcinoma bladder neck obstruction bladder urothelial carcinoma bone cancer bone marrow disease bone osteosarcoma brain cancer brain disease brain ischemia brain stem infarction breast adenocarcinoma breast cancer breast carcinoma breast ductal carcinoma breast fibroadenosis breast fibrocystic disease bronchus cancer bronchus carcinoma bursitis calcific tendinitis calcinosis calcium metabolism disease cancer cannabis abuse cannabis dependence carcinoma cardiac arrest cardiomyopathy cardiovascular system disease carotid artery disease carotid stenosis carpal tunnel syndrome cat-scratch disease 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 cellular ependymoma cellular schwannoma central nervous system cancer central nervous system disease central nervous system lymphoma cerebral artery occlusion cerebral cavernous malformation 1 cerebral convexity meningioma cerebral degeneration cerebral infarction cerebral malaria cerebral palsy cerebral primitive neuroectodermal tumor cerebrovascular disease cervical adenocarcinoma cervical cancer cervix carcinoma cervix uteri carcinoma in situ cherubism childhood acute lymphocytic leukemia childhood cerebral astrocytoma childhood hepatocellular carcinoma childhood leukemia childhood lymphoma childhood medulloblastoma childhood oligodendroglioma childhood osteosarcoma childhood type dermatomyositis cholangiocarcinoma cholecystolithiasis choledocholithiasis cholelithiasis cholesteatoma of middle ear cholesteatoma chondroblastoma chondrocalcinosis chondrosarcoma chorioamnionitis chromophobe renal cell carcinoma chromosome 10q23 deletion syndrome chronic fatigue syndrome chronic inflammatory demyelinating polyneuritis chronic inflammatory demyelinating polyradiculoneuropathy chronic interstitial cystitis chronic kidney disease chronic lymphocytic leukemia chronic monocytic leukemia chronic myeloid leukemia chronic obstructive pulmonary disease clear cell meningioma clear cell renal cell carcinoma clitoris cancer colitis collecting duct carcinoma colon adenocarcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma common wart complement deficiency complex partial epilepsy congenital central hypoventilation syndrome congenital heart disease congenital hypothyroidism congenital secretory sodium diarrhea 3 congenital secretory sodium diarrhea 8 congestive heart failure corneal ulcer coronary artery disease coronary thrombosis craniosynostosis cribriform carcinoma cutaneous fibrous histiocytoma cyclic hematopoiesis cystic fibrosis cystitis cytochrome-c oxidase deficiency disease decubitus ulcer degenerative disc disease dementia demyelinating disease demyelinating polyneuropathy dengue disease depressive disorder dermatitis dermatomyositis dermoid cyst diabetes mellitus diabetic autonomic neuropathy diabetic cataract diabetic ketoacidosis diabetic neuropathy diabetic polyneuropathy diabetic retinopathy diarrhea differentiated thyroid gland carcinoma diffuse large B-cell lymphoma dilated cardiomyopathy 1A dilated cardiomyopathy disease of mental health disease of metabolism distal arthrogryposis double outlet right ventricle dry eye syndrome ductal carcinoma in situ duodenal ulcer duodenum cancer duodenum disease dysplastic nevus syndrome dysthymic disorder eclampsia embryoma encephalitis encephalomyelitis endemic goiter endocervical carcinoma endocrine exophthalmos endometrial adenocarcinoma endometrial cancer endometrial carcinoma endometrial hyperplasia endometrioid ovary carcinoma endometriosis of ovary endometriosis of uterus endometriosis endometritis endomyocardial fibrosis enthesopathy eosinophilic esophagitis epidermodysplasia verruciformis epilepsy epithelioid leiomyosarcoma epithelioid sarcoma esophageal cancer esophageal carcinoma esophageal disease esophagitis esophagus adenocarcinoma esophagus squamous cell carcinoma essential hypertension exanthem exfoliation syndrome exostosis extrahepatic bile duct carcinoma extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue familial adenomatous polyposis 1 familial adenomatous polyposis familial hyperlipidemia familial hypocalciuric hypercalcemia 1 familial nephrotic syndrome familial periodic paralysis familial retinoblastoma fasciitis fibrillary astrocytoma fibromyalgia fibrosarcoma fibrous dysplasia fibrous meningioma focal epilepsy follicular adenoma frozen shoulder gallbladder cancer gallbladder carcinoma gallbladder disease gastric adenocarcinoma gastric cardia adenocarcinoma gastric lymphoma gastric tubular adenocarcinoma gastric ulcer gastritis gastroenteritis gastroesophageal junction adenocarcinoma gastroesophageal reflux disease gastrointestinal stromal tumor gastrointestinal system cancer gastrointestinal system disease gemistocytic astrocytoma generalized anxiety disorder gestational diabetes giant cell glioblastoma gingivitis glioblastoma gliosarcoma glomerulonephritis goiter gonorrhea granular cell carcinoma granuloma annulare granulosa cell tumor growth hormone secreting pituitary adenoma head and neck cancer head and neck squamous cell carcinoma heart cancer heart disease hematologic cancer hemiplegia hemolytic anemia hemopericardium hepatitis A hepatitis B hepatitis C hepatitis hepatoblastoma hepatocellular carcinoma hepatopulmonary syndrome hereditary neuropathy with liability to pressure palsies hereditary spherocytosis type 1 hereditary spherocytosis herpes simplex hidradenoma high grade glioma human immunodeficiency virus infectious disease hydronephrosis hypercalcemia hypereosinophilic syndrome hyperglycemia hyperhomocysteinemia hyperparathyroidism hypertension hypertrophic cardiomyopathy hypohidrotic ectodermal dysplasia hypothyroidism hypotrichosis 7 hypotrichosis idiopathic interstitial pneumonia idiopathic pulmonary fibrosis ileitis ileocolitis ileus immune system disease in situ carcinoma inclusion conjunctivitis inflammatory and toxic neuropathy inflammatory bowel disease 1 inflammatory bowel disease inflammatory breast carcinoma inflammatory myofibroblastic tumor influenza intermediate coronary syndrome interstitial cystitis intestinal benign neoplasm intestinal cancer intestinal disease intestinal obstruction intracranial aneurysm intrahepatic cholangiocarcinoma intraorbital meningioma intraventricular meningioma intrinsic asthma invasive ductal carcinoma invasive lobular carcinoma inverted follicular keratosis irritable bowel syndrome ischemia ischemic colitis islet cell tumor isovaleric acidemia juvenile pilocytic astrocytoma juvenile polyposis syndrome keratoacanthoma keratosis follicularis kidney cancer kidney disease kidney failure kwashiorkor large intestine cancer laryngeal benign neoplasm laryngeal carcinoma laryngeal disease laryngeal squamous cell carcinoma larynx cancer late onset Parkinson's disease leiomyoma leiomyosarcoma leprosy leukemia leukopenia lichen disease lichen planus lipoid nephrosis liver cancer liver carcinoma liver cirrhosis liver disease lobular neoplasia localized scleroderma lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung disease lung non-small cell carcinoma lung small cell carcinoma lung squamous cell carcinoma lupus erythematosus lupus nephritis lymphangioleiomyomatosis lymphoid leukemia lymphoma lymphoplasmacyte-rich meningioma macrocytic anemia major depressive disorder malaria malignant astrocytoma malignant conjunctival melanoma malignant fibrous histiocytoma malignant mesothelioma malignant peripheral nerve sheath tumor malignant pleural mesothelioma marasmus mast-cell leukemia mastocytosis meconium aspiration syndrome medulloblastoma medulloepithelioma medullomyoblastoma melancholic depression melanoacanthoma melanoma melanotic medulloblastoma melanotic neurilemmoma melorheostosis meningioma meningothelial meningioma microcystic adenoma microcystic meningioma microglandular adenosis microinvasive gastric cancer microphthalmia middle cerebral artery infarction migraine mixed glioma mixed oligodendroglioma-astrocytoma mixed sleep apnea mongolian spot mood disorder motor peripheral neuropathy mouth disease mucoepidermoid carcinoma mucositis multidrug-resistant tuberculosis multiple myeloma multiple sclerosis musculoskeletal system disease mycosis fungoides myelitis myeloid leukemia myocardial infarction myocarditis myofascial pain syndrome myofibroma myopathy myositis myxedema myxoid leiomyosarcoma myxopapillary ependymoma nasopharynx carcinoma nephritis nephroblastoma nephrocalcinosis nephrogenic diabetes insipidus nephrosis nephrotic syndrome nervous system disease neurilemmoma neuroblastoma neurocirculatory asthenia neurodegenerative disease neuroectodermal tumor neurofibromatosis neurogenic arthropathy neurotic disorder newborn respiratory distress syndrome nodular prostate non-Hodgkin lymphoma nonpapillary renal cell carcinoma nose disease nutmeg liver obesity obsolete Matthew-Wood syndrome obsolete dyspepsia obsolete embryonal Tumor with Multilayered Rosettes, C19MC-Altered obsolete hereditary motor and sensory neuropathy with agenesis of the corpus callosum obsolete melancholia obsolete type 1 diabetes mellitus 9 obsolete ymphosarcoma obstructive sleep apnea olfactory groove meningioma oligodendroglioma open-angle glaucoma oral mucosa leukoplakia oral submucous fibrosis osteitis fibrosa osteoarthritis osteogenesis imperfecta type 10 osteogenesis imperfecta type 11 osteogenesis imperfecta type 12 osteogenesis imperfecta type 13 osteogenesis imperfecta type 14 osteogenesis imperfecta type 15 osteogenesis imperfecta type 16 osteogenesis imperfecta type 17 osteogenesis imperfecta type 1 osteogenesis imperfecta type 2 osteogenesis imperfecta type 3 osteogenesis imperfecta type 4 osteogenesis imperfecta type 5 osteogenesis imperfecta type 6 osteogenesis imperfecta type 7 osteogenesis imperfecta type 8 osteogenesis imperfecta type 9 osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures osteogenesis imperfecta osteomalacia osteomyelitis osteosarcoma ovarian cancer ovarian carcinoma ovarian cyst ovarian hyperstimulation syndrome ovary adenocarcinoma ovary serous adenocarcinoma oxyphilic adenoma pancreatic adenocarcinoma pancreatic cancer pancreatic carcinoma pancreatic ductal adenocarcinoma pancreatitis papillary adenocarcinoma papillary adenoma papillary carcinoma papillary ependymoma papillary renal cell carcinoma papilloma paraganglioma parasagittal meningioma partial motor epilepsy patent ductus arteriosus peptic esophagitis peptic ulcer disease periapical granuloma pericardial effusion perinatal necrotizing enterocolitis periodontal disease periodontitis periodontosis peripheral artery disease peritoneal mesothelioma pharyngitis pheochromocytoma phobic disorder phosphorus metabolism disease photosensitivity disease phototoxic dermatitis pilocytic astrocytoma pituitary adenoma pituitary cancer pituitary carcinoma placental insufficiency pleomorphic adenoma pleurisy plexiform schwannoma pneumoconiosis pneumonia pneumothorax polycystic kidney disease 1 polycystic kidney disease polycystic ovary syndrome polyp of corpus uteri polyp of middle ear portal hypertension post-traumatic stress disorder postinflammatory pulmonary fibrosis pre-eclampsia primary biliary cholangitis primary cerebellar degeneration primary cutaneous T-cell non-Hodgkin lymphoma primary cutaneous amyloidosis primary hyperaldosteronism primary hyperparathyroidism primary hypertrophic osteoarthropathy primary immunodeficiency disease primary open angle glaucoma primary pulmonary hypertension primary sclerosing cholangitis prion disease progressive muscular atrophy prolactinoma prostate adenocarcinoma prostate cancer prostate carcinoma in situ prostate carcinoma prostatic adenoma prostatic hypertrophy prostatitis protein-energy malnutrition proteinuria protoplasmic astrocytoma prune belly syndrome psammomatous meningioma pseudomyxoma peritonei pseudosarcomatous fibromatosis pseudoxanthoma elasticum psoriatic arthritis psychotic disorder pterygium pulmonary emphysema pulmonary fibrosis pulmonary hypertension pulmonary sarcoidosis pyoureter reactive arthritis rectal benign neoplasm rectum adenocarcinoma rectum cancer renal carcinoma renal cell carcinoma renal oncocytoma renal osteodystrophy renovascular hypertension respiratory syncytial virus infectious disease reticulosarcoma retinal disease retinitis retinoblastoma retrograde amnesia rhabdoid cancer rhabdomyosarcoma rheumatoid arthritis rickets root resorption salivary gland adenoid cystic carcinoma sarcoidosis sarcoma sarcomatoid carcinoma sarcomatoid renal cell carcinoma schizophrenia scleroderma sclerosing cholangitis sebaceous carcinoma seborrheic keratosis secondary Parkinson disease secondary hyperparathyroidism secondary hypertrophic osteoarthropathy secretory meningioma sensorineural hearing loss serous cystadenocarcinoma severe combined immunodeficiency sick sinus syndrome siderosis silent myocardial infarction silicosis situs inversus skin benign neoplasm skin cancer skin carcinoma skin disease skin melanoma skin papilloma skin squamous cell carcinoma skin tag sleep apnea small intestine cancer spastic diplegia spastic monoplegia spastic quadriplegic cerebral palsy spinal cord disease spinal meningioma spinal muscular atrophy spinal stenosis spindle cell hemangioma spindle cell sarcoma spondyloarthropathy spondylosis squamous cell carcinoma squamous cell neoplasm squamous cell papilloma squamous papillomatosis status epilepticus steatotic liver disease steroid-induced glaucoma stomach cancer stomach carcinoma stomach disease stomatitis subacute bacterial endocarditis subependymal giant cell astrocytoma substernal goiter supratentorial primitive neuroectodermal tumor sweat gland cancer synovial sarcoma syringoma syringomyelia systemic lupus erythematosus systemic scleroderma systolic heart failure tanycytic ependymoma tarsal-carpal coalition syndrome tauopathy temporal arteritis temporal lobe epilepsy teratocarcinoma thromboangiitis obliterans thrombocytopenia thrombosis thrombotic thrombocytopenic purpura thymic carcinoma thymoma thyroid adenoma thyroid angiosarcoma thyroid cancer thyroid gland anaplastic carcinoma thyroid gland carcinoma thyroid gland disease thyroid gland follicular carcinoma thyroid gland medullary carcinoma thyroid gland papillary carcinoma tongue cancer tongue squamous cell carcinoma tracheal disease transient cerebral ischemia transitional cell carcinoma transitional meningioma transthyretin amyloidosis trichohepatoenteric syndrome 1 trichohepatoenteric syndrome tricuspid valve insufficiency trigonitis trilateral retinoblastoma trypanosomiasis tuberculosis tuberculous peritonitis tuberous sclerosis 1 tuberous sclerosis tubular adenocarcinoma type 1 diabetes mellitus 10 type 1 diabetes mellitus 11 type 1 diabetes mellitus 12 type 1 diabetes mellitus 13 type 1 diabetes mellitus 15 type 1 diabetes mellitus 17 type 1 diabetes mellitus 18 type 1 diabetes mellitus 19 type 1 diabetes mellitus 20 type 1 diabetes mellitus 21 type 1 diabetes mellitus 22 type 1 diabetes mellitus 23 type 1 diabetes mellitus 24 type 1 diabetes mellitus 2 type 1 diabetes mellitus 3 type 1 diabetes mellitus 4 type 1 diabetes mellitus 5 type 1 diabetes mellitus 6 type 1 diabetes mellitus 7 type 1 diabetes mellitus 8 type 1 diabetes mellitus type 2 diabetes mellitus type C thymoma typhus ulcerative colitis uremia ureteral obstruction uric acid nephrolithiasis urinary bladder cancer urinary tract obstruction urticaria uterine corpus cancer uterine fibroid uveoparotid fever varicose veins vascular dementia vascular disease vasomotor rhinitis vertebrobasilar insufficiency vestibular schwannomatosis viral infectious disease visual epilepsy vitiligo von Hippel-Lindau disease vulva cancer vulva carcinoma white sponge nevus xeroderma pigmentosum group A xeroderma pigmentosum group C xerophthalmia yellow fever
847	catalase	CAT	46,XY sex reversal 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 B-cell lymphoma Barrett's esophagus Behcet's disease Bloom syndrome Burkitt lymphoma Carney complex Charcot-Marie-Tooth disease X-linked dominant 1 Charcot-Marie-Tooth disease X-linked dominant 6 Charcot-Marie-Tooth disease X-linked recessive 2 Charcot-Marie-Tooth disease X-linked recessive 3 Charcot-Marie-Tooth disease X-linked recessive 4 Charcot-Marie-Tooth disease X-linked recessive 5 Charcot-Marie-Tooth disease axonal type 2C Charcot-Marie-Tooth disease axonal type 2F Charcot-Marie-Tooth disease axonal type 2H Charcot-Marie-Tooth disease axonal type 2K Charcot-Marie-Tooth disease axonal type 2L Charcot-Marie-Tooth disease axonal type 2N Charcot-Marie-Tooth disease axonal type 2O Charcot-Marie-Tooth disease axonal type 2P Charcot-Marie-Tooth disease axonal type 2Q Charcot-Marie-Tooth disease axonal type 2T Charcot-Marie-Tooth disease axonal type 2U Charcot-Marie-Tooth disease dominant intermediate A Charcot-Marie-Tooth disease dominant intermediate B Charcot-Marie-Tooth disease dominant intermediate C Charcot-Marie-Tooth disease dominant intermediate D Charcot-Marie-Tooth disease dominant intermediate E Charcot-Marie-Tooth disease dominant intermediate F Charcot-Marie-Tooth disease recessive intermediate B Charcot-Marie-Tooth disease recessive intermediate C Charcot-Marie-Tooth disease recessive intermediate D Charcot-Marie-Tooth disease type 1A Charcot-Marie-Tooth disease type 1B Charcot-Marie-Tooth disease type 1C Charcot-Marie-Tooth disease type 1D Charcot-Marie-Tooth disease type 1E Charcot-Marie-Tooth disease type 1F Charcot-Marie-Tooth disease type 2A1 Charcot-Marie-Tooth disease type 2A2A Charcot-Marie-Tooth disease type 2B1 Charcot-Marie-Tooth disease type 2B2 Charcot-Marie-Tooth disease type 2B Charcot-Marie-Tooth disease type 2D Charcot-Marie-Tooth disease type 2E Charcot-Marie-Tooth disease type 2I Charcot-Marie-Tooth disease type 2J Charcot-Marie-Tooth disease type 2R Charcot-Marie-Tooth disease type 2Y Charcot-Marie-Tooth disease type 3 Charcot-Marie-Tooth disease type 4A Charcot-Marie-Tooth disease type 4B1 Charcot-Marie-Tooth disease type 4B2 Charcot-Marie-Tooth disease type 4B3 Charcot-Marie-Tooth disease type 4C Charcot-Marie-Tooth disease type 4D Charcot-Marie-Tooth disease type 4E Charcot-Marie-Tooth disease type 4F Charcot-Marie-Tooth disease type 4G Charcot-Marie-Tooth disease type 4H Charcot-Marie-Tooth disease type 4J Charcot-Marie-Tooth disease type 4K Charcot-Marie-Tooth disease Clostridium difficile colitis Cockayne syndrome Cornelia de Lange syndrome Creutzfeldt-Jakob disease Crimean-Congo hemorrhagic fever Down syndrome Dubowitz syndrome Fanconi anemia complementation group A Fanconi anemia Friedreich ataxia 1 Friedreich ataxia Graves ophthalmopathy Graves' disease Grn-related frontotemporal lobar degeneration with Tdp43 inclusions Hailey-Hailey disease Hantavirus hemorrhagic fever with renal syndrome Huntington's disease-like 1 Huntington's disease-like 2 Huntington's disease Japanese encephalitis Kawasaki disease Langerhans-cell histiocytosis Leber hereditary optic neuropathy Marfan syndrome Meesmann corneal dystrophy Miles-Carpenter syndrome Noonan syndrome 10 Noonan syndrome 1 Noonan syndrome 2 Noonan syndrome 3 Noonan syndrome 4 Noonan syndrome 5 Noonan syndrome 6 Noonan syndrome 7 Noonan syndrome 8 Noonan syndrome 9 Noonan syndrome Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Pick's disease Prader-Willi syndrome Raynaud disease Refsum disease Rett syndrome Reye syndrome Robinow syndrome Rothmund-Thomson syndrome Scheie syndrome Seckel syndrome Silver-Russell syndrome St. Louis encephalitis Sveinsson chorioretinal atrophy T-cell acute lymphoblastic leukemia Turner syndrome WAGR syndrome Werner syndrome Wernicke-Korsakoff syndrome Wilson disease Wolman disease X-linked Aarskog syndrome X-linked chronic granulomatous disease Zellweger syndrome Zika fever abdominal aortic aneurysm abdominal obesity-metabolic syndrome 1 acatalasia acne acoustic neuroma acquired hyperkeratosis acrodermatitis actinic keratosis actinomycosis acute cholangitis acute intermittent porphyria acute lymphoblastic leukemia acute myeloid leukemia acute myocardial infarction acute pancreatitis adenocarcinoma adenoma adenosarcoma adrenal gland cancer adult T-cell leukemia/lymphoma adult acute lymphocytic leukemia adult lymphoma adult respiratory distress syndrome age related macular degeneration agenesis of the corpus callosum with peripheral neuropathy aggressive systemic mastocytosis agnosia alcohol dependence alcohol use disorder alcoholic liver cirrhosis allergic asthma allergic bronchopulmonary aspergillosis allergic rhinitis alpha 1-antitrypsin deficiency amnestic disorder amyloidosis amyotrophic lateral sclerosis type 1 amyotrophic lateral sclerosis type 2 amyotrophic lateral sclerosis type 4 amyotrophic lateral sclerosis anaplastic astrocytoma anemia angioedema angle-closure glaucoma animal phobia aniridia ankylosing spondylitis anterior horn cell disease anterolateral myocardial infarction anteroseptal myocardial infarction anthracosilicosis anthracosis antisocial personality disorder anxiety disorder aortic aneurysm aortic disease aortic valve insufficiency aphthous stomatitis arachnoiditis arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease arthritis arthropathy asbestosis ascariasis ascaridiasis aspergillosis asphyxia neonatorum aspiration pneumonia aspiration pneumonitis asthma ataxia telangiectasia atherosclerosis atrial fibrillation 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 autoimmune disease autoimmune hepatitis autoimmune lymphoproliferative syndrome autosomal dominant Robinow syndrome 1 autosomal dominant Robinow syndrome 2 autosomal dominant Robinow syndrome 3 autosomal dominant cerebellar ataxia autosomal dominant cutis laxa 1 autosomal dominant cutis laxa 2 autosomal dominant cutis laxa 3 autosomal dominant cutis laxa autosomal recessive Robinow syndrome autosomal recessive cutis laxa type IA autosomal recessive cutis laxa type IB autosomal recessive cutis laxa type II classic type autosomal recessive cutis laxa type IIA autosomal recessive cutis laxa type IIB autosomal recessive cutis laxa type IIC autosomal recessive cutis laxa type IID autosomal recessive cutis laxa type IIIA autosomal recessive cutis laxa type IIIB autosomal recessive distal hereditary motor neuronopathy 1 azoospermia background diabetic retinopathy bacterial infectious disease bacterial pneumonia bacterial sepsis basal cell carcinoma benign mesothelioma bestrophinopathy beta thalassemia bile duct adenocarcinoma bile duct carcinoma bipolar disorder black piedra bladder carcinoma blood coagulation disease bone marrow cancer bone osteosarcoma brain cancer brain disease brain infarction brain ischemia brain stem infarction breast adenocarcinoma breast cancer breast carcinoma bronchopulmonary dysplasia bronchus cancer bronchus carcinoma byssinosis cancer carbamoyl phosphate synthetase I deficiency disease carcinoma cardiac arrest cardiomyopathy cardiovascular system disease cartilage-hair hypoplasia cataract cellular schwannoma central nervous system cancer central nervous system lymphoma central sleep apnea cerebellar ataxia cerebellar disease cerebral artery occlusion cerebral degeneration cerebral infarction cerebral malaria cerebral palsy cerebrovascular disease cervical adenocarcinoma cervical cancer cervix carcinoma cervix disease cervix uteri carcinoma in situ childhood acute lymphocytic leukemia childhood cerebral astrocytoma childhood lymphoma childhood osteosarcoma cholangiocarcinoma cholecystolithiasis choledocholithiasis cholelithiasis cholestasis chondrodysplasia-pseudohermaphroditism syndrome choriocarcinoma choroid plexus papilloma chromophobe renal cell carcinoma chronic closed-angle glaucoma chronic fatigue syndrome chronic granulomatous disease chronic kidney disease chronic myeloid leukemia chronic obstructive pulmonary disease chronic purulent otitis media chronic venous insufficiency clear cell renal cell carcinoma cleft palate coccidioidomycosis colitis collecting duct carcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma complement deficiency congenital hemolytic anemia congenital hypothyroidism congestive heart failure corneal disease coronary artery disease coronary thrombosis cribriform carcinoma critical illness polyneuropathy cutaneous anthrax cutaneous leishmaniasis cutis laxa cystic fibrosis cystitis cystoid macular edema deficiency anemia degeneration of macula and posterior pole delusional disorder dengue disease denture stomatitis depressive disorder dermatitis developmental coordination disorder diabetes mellitus diabetic angiopathy diabetic autonomic neuropathy diabetic cataract diabetic ketoacidosis diabetic neuropathy diabetic polyneuropathy diabetic retinopathy diffuse large B-cell lymphoma diffuse scleroderma dilated cardiomyopathy 1A dilated cardiomyopathy disease of metabolism distal arthrogryposis duodenum cancer duodenum disease dysthymic disorder embryoma encephalitis encephalomyelitis end stage renal disease endometrial cancer endometrial carcinoma endometriosis of uterus endometriosis endometritis endomyocardial fibrosis eosinophilia-myalgia syndrome epidermolysis bullosa dystrophica epilepsy erysipelas erythrasma esophageal disease essential hypertension extramedullary plasmacytoma exudative vitreoretinopathy 1 exudative vitreoretinopathy familial hyperlipidemia familial mediterranean fever familial periodic paralysis favism female stress incontinence fibrillary astrocytoma fibromyalgia focal epilepsy fragile X syndrome gallbladder cancer gallbladder carcinoma gastric adenocarcinoma gastric ulcer gastritis gastroenteritis gastrointestinal system disease gemistocytic astrocytoma generalized anxiety disorder gestational diabetes giant cell glioblastoma glioblastoma gliosarcoma glomerulonephritis glucocorticoid-remediable aldosteronism glucose intolerance goiter gonadal dysgenesis gonadoblastoma gonorrhea granular cell carcinoma granular corneal dystrophy 2 head and neck squamous cell carcinoma heart cancer heart disease hemiplegia hemochromatosis hemolytic-uremic syndrome hemopericardium hepatitis A hepatitis B hepatitis C hepatitis hepatoblastoma hepatocellular carcinoma hereditary elliptocytosis hereditary neuropathy with liability to pressure palsies hereditary sensory and autonomic neuropathy type 5 hereditary spherocytosis type 1 hereditary spherocytosis herpes simplex high grade glioma histoplasmosis holoprosencephaly 1 holoprosencephaly homocystinuria hyperglycemia hyperhomocysteinemia hypertension hyperthyroidism hypertrophic cardiomyopathy hyperuricemia hypochromic anemia hypothalamic disease hypothyroidism idiopathic interstitial pneumonia ileitis ileocolitis immune system disease inclusion body myositis infantile Refsum disease inflammatory and toxic neuropathy inflammatory bowel disease 1 inflammatory bowel disease insulinoma intellectual disability interstitial nephritis intestinal disease intrahepatic cholangiocarcinoma intraocular lymphoma intrinsic asthma iron metabolism disease irritable bowel syndrome isolated cleft palate juvenile pilocytic astrocytoma juvenile rheumatoid arthritis keratitis keratoacanthoma keratoconjunctivitis keratoconus keratosis kernicterus due to isoimmunization kernicterus kidney cancer kidney disease kidney failure kidney hypertrophy kwashiorkor large intestine cancer laryngeal benign neoplasm laryngeal carcinoma laryngeal squamous cell carcinoma larynx cancer late onset Parkinson's disease lateral sclerosis learning disability lesion of sciatic nerve leukopenia lichen disease lichen planus lipid storage disease listeriosis liver cancer liver cirrhosis localized scleroderma lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung disease lung non-small cell carcinoma lupus erythematosus lymphoma lysosomal acid lipase deficiency macrocytic anemia macular corneal dystrophy macular degeneration macular retinal edema major depressive disorder mal de Meleda malaria male infertility malignant astrocytoma malignant mesothelioma marasmus mast-cell sarcoma melancholic depression melanoma melanotic neurilemmoma meningioma meningitis meningoencephalitis microcephalic osteodysplastic primordial dwarfism type I microcephalic osteodysplastic primordial dwarfism type II microcephaly microcytic anemia middle cerebral artery infarction migraine with aura migraine without aura mitral valve stenosis mixed glioma mixed oligodendroglioma-astrocytoma mood disorder motor neuron disease motor peripheral neuropathy mucopolysaccharidosis I mucopolysaccharidosis II mucopolysaccharidosis III mucopolysaccharidosis IV mucopolysaccharidosis Ih mucopolysaccharidosis VI mucopolysaccharidosis mucosulfatidosis multiple myeloma multiple sclerosis myelitis myelofibrosis myeloproliferative neoplasm myocardial infarction myocardial stunning myopathy myotonic dystrophy type 1 myxedema neonatal jaundice neovascular inflammatory vitreoretinopathy nephritis nephroblastoma nephrolithiasis nephrosis neurilemmoma neuroblastoma neurocirculatory asthenia neurodegenerative disease neurofibromatosis neuropathy neurotic disorder newborn respiratory distress syndrome nodular prostate non-Hodgkin lymphoma nonpapillary renal cell carcinoma nutmeg liver nutrition disease obesity obsolete hereditary motor and sensory neuropathy with agenesis of the corpus callosum obsolete inherited blood coagulation disease obsolete melancholia obsolete type 1 diabetes mellitus 9 obsolete ymphosarcoma obstructive lung disease optic neuritis osteoarthritis osteoglophonic dysplasia osteonecrosis osteoporosis osteosarcoma otitis media ovarian cancer ovarian carcinoma pancreatic adenocarcinoma pancreatic cancer pancreatic carcinoma pancreatitis papillary renal cell carcinoma papilloma parapsoriasis parathyroid gland disease parietal foramina partial motor epilepsy patent foramen ovale pemphigus pericardial effusion pericarditis perinatal necrotizing enterocolitis periodontal disease periodontitis peripheral nervous system disease peroxisomal disease peroxisome biogenesis disorder 1A peroxisome biogenesis disorder 7A peroxisome biogenesis disorder 8A personality disorder phenylketonuria pheochromocytoma phobic disorder photosensitive trichothiodystrophy phototoxic dermatitis pilocytic astrocytoma pituitary adenoma pityriasis rubra pilaris placenta cancer placental insufficiency plasmacytoma plexiform schwannoma pneumoconiosis pneumonia polycystic ovary syndrome polycythemia vera polyneuropathy post-traumatic stress disorder postinflammatory pulmonary fibrosis prediabetes syndrome preretinal fibrosis primary angle-closure glaucoma primary open angle glaucoma proctitis progeria progressive multifocal leukoencephalopathy progressive muscular atrophy proliferative diabetic retinopathy prostate cancer prostate carcinoma prostate disease prostatic adenoma protein-energy malnutrition protoplasmic astrocytoma pseudoxanthoma elasticum psoriasis pterygium pulmonary edema pulmonary embolism pulmonary emphysema pulmonary fibrosis purpura pustulosis of palm and sole pyelitis pyelonephritis pyoureter recessive dystrophic epidermolysis bullosa renal artery disease renal carcinoma renal cell carcinoma restrictive dermopathy reticulosarcoma retinal disease retinitis pigmentosa retinitis retinopathy of prematurity retrograde amnesia rheumatoid arthritis sarcoidosis sarcomatoid carcinoma sarcomatoid renal cell carcinoma scabies schizophrenia sciatic neuropathy scleroderma sebaceous carcinoma seborrheic dermatitis senile cataract sensorineural hearing loss sick sinus syndrome sickle cell anemia silent myocardial infarction situs inversus skin atrophy skin benign neoplasm skin cancer skin melanoma small intestine cancer social phobia spastic diplegia spastic monoplegia spastic quadriplegic cerebral palsy specific phobia spinal muscular atrophy spinal stenosis spinocerebellar ataxia type 1 spinocerebellar ataxia type 2 spondylocarpotarsal synostosis syndrome sporotrichosis squamous cell carcinoma squamous cell papilloma status epilepticus steatotic liver disease stomach cancer stomach carcinoma stomach disease stomatitis subacute bacterial endocarditis subependymal giant cell astrocytoma superficial mycosis superior mesenteric artery syndrome suppurative otitis media sweat gland cancer systemic lupus erythematosus systemic scleroderma teratocarcinoma thrombocytopenia thrombophilia thymic carcinoma thymoma thyroid adenoma thyroid cancer thyroid gland anaplastic carcinoma thyroid gland carcinoma thyroid gland disease thyroid gland papillary carcinoma thyrotoxicosis tongue squamous cell carcinoma toxic encephalopathy transient cerebral ischemia trigonitis tuberculosis tuberous sclerosis tubular adenocarcinoma tympanosclerosis 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 ulcerative stomatitis urea cycle disorder uremia ureteral obstruction uric acid nephrolithiasis urinary bladder cancer urticaria uterine corpus cancer uveoparotid fever varicocele variegate porphyria vascular disease vasomotor rhinitis vertebrobasilar insufficiency vestibular schwannomatosis viral infectious disease visual epilepsy vitiligo white piedra 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 yellow fever
10855	heparanase	HPSE HPA HPSE1 HSE1	46,XY sex reversal 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 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 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 Crohn's colitis Crohn's disease Evans' syndrome Glanzmann's thrombasthenia Hodgkin's granuloma Hodgkin's lymphoma, lymphocytic depletion Hodgkin's lymphoma, lymphocytic-histiocytic predominance Hodgkin's lymphoma, mixed cellularity Hodgkin's lymphoma IgA glomerulonephritis Japanese encephalitis MHC class II deficiency Pick's disease Reye syndrome Sjogren's syndrome X-linked ichthyosis abdominal aortic aneurysm acrodermatitis acute lymphoblastic leukemia acute myocardial infarction acute pancreatitis adenocarcinoma adenoma adenosine deaminase deficiency adrenal gland cancer adult hepatocellular carcinoma adult lymphoma adult medulloblastoma adult oligodendroglioma agenesis of the corpus callosum with peripheral neuropathy ameloblastoma anaplastic astrocytoma anemia antithrombin III deficiency anxiety disorder arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease arthritis arthropathy atherosclerosis autoimmune disease autoimmune lymphoproliferative syndrome autoimmune thrombocytopenic purpura basal cell carcinoma benign mesothelioma bile duct adenocarcinoma bile duct carcinoma bipolar disorder bladder carcinoma blood coagulation disease blood platelet disease bone marrow cancer bone osteosarcoma botryoid rhabdomyosarcoma brain cancer breast adenocarcinoma breast cancer breast carcinoma breast lymphoma bronchus cancer bronchus carcinoma cancer carcinoma cardiac arrest cardiomyopathy cardiovascular system disease carotid artery disease central nervous system cancer central nervous system lymphoma central retinal vein occlusion cerebral degeneration cerebral infarction cerebrovascular disease cervical adenocarcinoma cervical cancer cervical squamous cell carcinoma cervix carcinoma cervix uteri carcinoma in situ cherubism childhood cerebral astrocytoma childhood medulloblastoma childhood oligodendroglioma cholangiocarcinoma choriocarcinoma chromophobe renal cell carcinoma chronic ethmoiditis chronic fatigue syndrome chronic kidney disease chronic myeloid leukemia chronic sphenoidal sinusitis clear cell renal cell carcinoma collecting duct carcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma corneal disease coronary artery disease coronary thrombosis cribriform carcinoma cutaneous fibrous histiocytoma dengue disease depressive disorder dermatitis dermoid cyst of ovary diabetes mellitus diabetic angiopathy diabetic ketoacidosis duodenum cancer dysthymic disorder embryoma embryonal rhabdomyosarcoma encephalitis encephalomyelitis endometrial cancer endometrial carcinoma endometriosis of uterus endometriosis endomyocardial fibrosis epithelioid sarcoma esophageal cancer esophageal carcinoma esophagus squamous cell carcinoma essential hypertension essential thrombocythemia exostosis exudative vitreoretinopathy 1 exudative vitreoretinopathy familial cold autoinflammatory syndrome 1 familial cold autoinflammatory syndrome 4 familial cold autoinflammatory syndrome familial nephrotic syndrome fibrillary astrocytoma focal segmental glomerulosclerosis follicular adenoma gallbladder cancer gallbladder carcinoma gastrointestinal system cancer gemistocytic astrocytoma generalized anxiety disorder giant cell glioblastoma gingival fibromatosis glaucoma glioblastoma gliosarcoma glomerulonephritis granular cell carcinoma gray platelet syndrome head and neck cancer head and neck squamous cell carcinoma heart cancer heart disease hepatic veno-occlusive disease hepatitis B hepatitis C hepatocellular carcinoma hepatoerythropoietic porphyria hereditary multiple exostoses hereditary neuropathy with liability to pressure palsies hidradenoma high grade glioma hyperglycemia hypertension hypertrophic cardiomyopathy immune system disease in situ carcinoma inflammatory bowel disease 1 inflammatory bowel disease intrahepatic cholangiocarcinoma invasive ductal carcinoma juvenile pilocytic astrocytoma keratoconjunctivitis sicca keratoconus kidney disease kidney failure large intestine cancer laryngeal squamous cell carcinoma leukemia lipoid nephrosis liver cancer liver cirrhosis lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma lupus nephritis lymphoid leukemia lymphoma macrocytic anemia major depressive disorder malaria malignant astrocytoma malignant mesothelioma malignant pleural mesothelioma medulloblastoma medullomyoblastoma melancholic depression melanoma melanotic medulloblastoma membranous glomerulonephritis microcystic adenoma migraine mixed glioma mixed oligodendroglioma-astrocytoma motor peripheral neuropathy mucinous adenocarcinoma multiple myeloma multiple sclerosis myelitis myelodysplastic syndrome myeloid leukemia myeloproliferative neoplasm myocardial infarction myoma nasopharynx carcinoma nephritis nephrosis nephrotic syndrome neuroblastoma neurodegenerative disease neuroendocrine carcinoma neuroendocrine tumor neuropathy neurotic disorder nevoid basal cell carcinoma syndrome nodular prostate nonpapillary renal cell carcinoma nutmeg liver obesity obsolete hereditary motor and sensory neuropathy with agenesis of the corpus callosum obsolete inherited blood coagulation disease obsolete melancholia obsolete type 1 diabetes mellitus 9 obsolete ymphosarcoma oligodendroglioma osteoarthritis osteoporosis osteosarcoma ovarian cancer ovarian carcinoma pancreatic adenocarcinoma pancreatic cancer pancreatic carcinoma pancreatitis papillary adenocarcinoma papillary adenoma papillary carcinoma papillary renal cell carcinoma parapsoriasis periarthritis peripheral nervous system disease pheochromocytoma pilocytic astrocytoma placenta cancer platelet-type bleeding disorder 17 platelet-type bleeding disorder 18 porphyria cutanea tarda primary immunodeficiency disease proliferative diabetic retinopathy prostate cancer prostate carcinoma prostatic adenoma protein C deficiency protein S deficiency proteinuria protoplasmic astrocytoma psoriasis pustulosis of palm and sole qualitative platelet defect rabies renal carcinoma renal cell carcinoma retinal disease retinal vein occlusion retinitis retinopathy of prematurity rhabdomyosarcoma rheumatoid arthritis sarcoma sarcomatoid carcinoma sarcomatoid renal cell carcinoma severe combined immunodeficiency silent myocardial infarction skin melanoma skin papilloma skin tag small intestine cancer spindle cell sarcoma squamous cell carcinoma steatotic liver disease stomach cancer stomach carcinoma subependymal giant cell astrocytoma synovial sarcoma syringoma tendinitis thromboangiitis obliterans thrombocytopenia due to platelet alloimmunization thrombocytopenia thrombophilia thyroid adenoma thyroid cancer thyroid gland carcinoma thyroid gland papillary carcinoma tongue cancer tongue squamous cell carcinoma tuberculosis tubular adenocarcinoma type 1 diabetes mellitus 10 type 1 diabetes mellitus 11 type 1 diabetes mellitus 12 type 1 diabetes mellitus 13 type 1 diabetes mellitus 15 type 1 diabetes mellitus 17 type 1 diabetes mellitus 18 type 1 diabetes mellitus 19 type 1 diabetes mellitus 20 type 1 diabetes mellitus 21 type 1 diabetes mellitus 22 type 1 diabetes mellitus 23 type 1 diabetes mellitus 24 type 1 diabetes mellitus 2 type 1 diabetes mellitus 3 type 1 diabetes mellitus 4 type 1 diabetes mellitus 5 type 1 diabetes mellitus 6 type 1 diabetes mellitus 7 type 1 diabetes mellitus 8 type 1 diabetes mellitus type 2 diabetes mellitus ulcerative colitis urinary bladder cancer urofacial syndrome uterine corpus cancer vascular disease viral infectious disease von Willebrand's disease 1 von Willebrand's disease yellow fever
5226	phosphogluconate dehydrogenase	PGD	46,XY sex reversal 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 Down syndrome Huntington's disease-like 1 Huntington's disease-like 2 Huntington's disease Leber hereditary optic neuropathy Leigh disease Marfan syndrome Meckel syndrome 3 Meckel syndrome Pick's disease Plasmodium vivax malaria Reye syndrome Turner syndrome adenocarcinoma adenoma allergic asthma alpha thalassemia-X-linked intellectual disability syndrome alpha thalassemia-intellectual disability syndrome type 1 alpha thalassemia androgen insensitivity syndrome asthma atopic dermatitis autosomal dominant polycystic kidney disease azoospermia beta thalassemia breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer cerebral degeneration cervical adenocarcinoma cervical cancer cervix carcinoma childhood leukemia cribriform carcinoma cutaneous leishmaniasis cystic fibrosis depressive disorder dermatitis disorder of sexual development dysgerminoma dysthymic disorder embryoma esophageal cancer esophageal carcinoma esophagus squamous cell carcinoma fragile X syndrome gonadal dysgenesis gonadoblastoma granular cell carcinoma hemoglobin H disease hepatocellular carcinoma hermaphroditism inflammatory bowel disease 1 inflammatory bowel disease intrinsic asthma leukemia liver cancer lung benign neoplasm lung cancer lung carcinoma major depressive disorder malaria melancholic depression microcephaly microphthalmia mixed gonadal dysgenesis mood disorder myotonic disease myotonic dystrophy type 1 myotonic dystrophy type 2 neurofibromatosis 1 neurofibromatosis neurotic disorder obsolete Matthew-Wood syndrome obsolete melancholia polycystic kidney disease 1 premature menopause pseudohermaphroditism seminoma situs inversus squamous cell carcinoma testicular cancer testicular germ cell cancer testis seminoma thalassemia thyroid gland anaplastic carcinoma tongue squamous cell carcinoma tuberous sclerosis tubular adenocarcinoma ulcerative colitis vitiligo

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