GlyCosmos Portal

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GlyCosmos Genes

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

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

Catalytic activity

glycosyltransferase activity

hydrolase activity, acting on glycosyl bonds

Binding

carbohydrate binding

Response to carbohydrate

Primary metabolic process

Displaying entries **1 - 25** of **393515** in total

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Gene ID	Gene Name	Gene Symbol	Organism	Disease Ontology ▲
3293	hydroxysteroid 17-beta dehydrogenase 3	HSD17B3 Aliases: SDR12C2 short chain dehydrogenase/reductase family 12C, member 2	Homo sapiens (human)	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
494076	dehydrogenase E1 and transketolase domain containing 1	dhtkd1	Danio rerio (zebrafish)	2-aminoadipic 2-oxoadipic aciduria Charcot-Marie-Tooth disease axonal type 2Q
403360	dehydrogenase E1 and transketolase domain containing 1 L homeolog	dhtkd1.L	Xenopus laevis (African clawed frog)	2-aminoadipic 2-oxoadipic aciduria Charcot-Marie-Tooth disease axonal type 2Q
209692	dehydrogenase E1 and transketolase domain containing 1	Dhtkd1	Mus musculus (house mouse)	2-aminoadipic 2-oxoadipic aciduria Charcot-Marie-Tooth disease axonal type 2Q
43689	uncharacterized protein	CG1544	Drosophila melanogaster (fruit fly)	2-aminoadipic 2-oxoadipic aciduria Charcot-Marie-Tooth disease axonal type 2Q
55526	dehydrogenase E1 and transketolase domain containing 1	DHTKD1	Homo sapiens (human)	2-aminoadipic 2-oxoadipic aciduria Charcot-Marie-Tooth disease axonal type 2Q
179674	Transketolase-like pyrimidine-binding domain-containing protein;putative 2-oxoglutarate dehydrogenase E1 component DHKTD1 homolog, mitochondrial	ogdh-2	Caenorhabditis elegans	2-aminoadipic 2-oxoadipic aciduria Charcot-Marie-Tooth disease axonal type 2Q
361272	dehydrogenase E1 and transketolase domain containing 1	Dhtkd1	Rattus norvegicus (Norway rat)	2-aminoadipic 2-oxoadipic aciduria Charcot-Marie-Tooth disease axonal type 2Q
3418	isocitrate dehydrogenase (NADP(+)) 2	IDH2 Aliases: IDH-2	Homo sapiens (human)	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	Homo sapiens (human)	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 Aliases: 2-hydroxyglutarate dehydrogenase FLJ12618	Homo sapiens (human)	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
6576	solute carrier family 25 member 1	SLC25A1	Homo sapiens (human)	2-hydroxyglutaric aciduria DiGeorge syndrome chromosome 22q11.2 deletion syndrome, distal combined D-2- and L-2-hydroxyglutaric aciduria congenital myasthenic syndrome mitochondrial metabolism disease
35156	L-2-hydroxyglutarate dehydrogenase	L2HGDH	Drosophila melanogaster (fruit fly)	2-hydroxyglutaric aciduria L-2-hydroxyglutaric aciduria cerebellar ataxia hereditary spastic paraplegia visual epilepsy
8455	attractin	ATRN Aliases: DPPT-L MGCA mahogany protein	Homo sapiens (human)	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 Aliases: succinate--CoA ligase (ADP-forming)	Homo sapiens (human)	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
850633	chaperone ATPase HSP104	HSP104	Saccharomyces cerevisiae S288C	3-methylglutaconic aciduria type 7a 3-methylglutaconic aciduria type 7b severe congenital neutropenia
1892	enoyl-CoA hydratase, short chain 1	ECHS1 Aliases: SCEH short chain enoyl-CoA hydratase	Homo sapiens (human)	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	Homo sapiens (human)	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 Aliases: FLJ10842	Homo sapiens (human)	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 Aliases: ACAD7 SBCAD	Homo sapiens (human)	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 Aliases: C4/C2 activating component of Ra-reactive factor MAP-1 MASP MASP-3 Map44 mannose-binding lectin-associated serine protease 1	Homo sapiens (human)	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 Aliases: CL-11 CL-K1 Collectin K1 MGC3279	Homo sapiens (human)	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 Aliases: CL-10 CL-L1	Homo sapiens (human)	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 Aliases: P450SCC cholesterol monooxygenase (side-chain-cleaving)	Homo sapiens (human)	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 Aliases: AltPrP CD230 Creutzfeldt-Jakob disease Gerstmann-Strausler-Scheinker syndrome PRP fatal familial insomnia p27-30	Homo sapiens (human)	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

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