Genetics Home Reference

Genetics Home Reference http://ghr.nlm.nih.gov/ US National Library of Medicine Subject to "Terms of Use" at http://ghr.nlm.nih.gov/TermsAndConditions Conditions http://ghr.nlm.nih.gov/BrowseConditions Aarskog-Scott syndrome http://ghr.nlm.nih.gov/condition=aarskogscottsyndrome abetalipoproteinemia http://ghr.nlm.nih.gov/condition=abetalipoproteinemia aceruloplasminemia http://ghr.nlm.nih.gov/condition=aceruloplasminemia achondrogenesis http://ghr.nlm.nih.gov/condition=achondrogenesis achondroplasia http://ghr.nlm.nih.gov/condition=achondroplasia adenosine deaminase deficiency http://ghr.nlm.nih.gov/condition=adenosinedeaminasedeficiency adenosine monophosphate deaminase deficiency http://ghr.nlm.nih.gov/condition=adenosinemonophosphatedeaminasedeficiency Alagille syndrome http://ghr.nlm.nih.gov/condition=alagillesyndrome Alexander disease http://ghr.nlm.nih.gov/condition=alexanderdisease alkaptonuria http://ghr.nlm.nih.gov/condition=alkaptonuria Allan-Herndon-Dudley syndrome http://ghr.nlm.nih.gov/condition=allanherndondudleysyndrome alpha-1 antitrypsin deficiency http://ghr.nlm.nih.gov/condition=alpha1antitrypsindeficiency 5-alpha reductase deficiency http://ghr.nlm.nih.gov/condition=5alphareductasedeficiency alpha-mannosidosis http://ghr.nlm.nih.gov/condition=alphamannosidosis alpha thalassemia http://ghr.nlm.nih.gov/condition=alphathalassemia alpha thalassemia X-linked mental retardation syndrome http://ghr.nlm.nih.gov/condition=alphathalassemiaxlinkedmentalretardationsyndrome Alport syndrome http://ghr.nlm.nih.gov/condition=alportsyndrome Alström syndrome http://ghr.nlm.nih.gov/condition=alstromsyndrome Alzheimer disease http://ghr.nlm.nih.gov/condition=alzheimerdisease amelogenesis imperfecta http://ghr.nlm.nih.gov/condition=amelogenesisimperfecta Amish lethal microcephaly http://ghr.nlm.nih.gov/condition=amishlethalmicrocephaly amyotrophic lateral sclerosis http://ghr.nlm.nih.gov/condition=amyotrophiclateralsclerosis Andermann syndrome http://ghr.nlm.nih.gov/condition=andermannsyndrome Andersen-Tawil syndrome http://ghr.nlm.nih.gov/condition=andersentawilsyndrome androgen insensitivity syndrome http://ghr.nlm.nih.gov/condition=androgeninsensitivitysyndrome androgenetic alopecia http://ghr.nlm.nih.gov/condition=androgeneticalopecia Angelman syndrome http://ghr.nlm.nih.gov/condition=angelmansyndrome aniridia http://ghr.nlm.nih.gov/condition=aniridia ankylosing spondylitis http://ghr.nlm.nih.gov/condition=ankylosingspondylitis Apert syndrome http://ghr.nlm.nih.gov/condition=apertsyndrome arginase deficiency http://ghr.nlm.nih.gov/condition=arginasedeficiency argininosuccinic aciduria http://ghr.nlm.nih.gov/condition=argininosuccinicaciduria aromatic l-amino acid decarboxylase deficiency http://ghr.nlm.nih.gov/condition=aromaticlaminoaciddecarboxylasedeficiency aspartylglucosaminuria http://ghr.nlm.nih.gov/condition=aspartylglucosaminuria asphyxiating thoracic dystrophy http://ghr.nlm.nih.gov/condition=asphyxiatingthoracicdystrophy ataxia-telangiectasia http://ghr.nlm.nih.gov/condition=ataxiatelangiectasia ataxia with oculomotor apraxia http://ghr.nlm.nih.gov/condition=ataxiawithoculomotorapraxia ataxia with vitamin E deficiency http://ghr.nlm.nih.gov/condition=ataxiawithvitaminedeficiency atelosteogenesis type 2 http://ghr.nlm.nih.gov/condition=atelosteogenesistype2 autoimmune polyglandular syndrome, type 1 http://ghr.nlm.nih.gov/condition=autoimmunepolyglandularsyndrometype1 autosomal dominant nocturnal frontal lobe epilepsy http://ghr.nlm.nih.gov/condition=autosomaldominantnocturnalfrontallobeepilepsy autosomal dominant partial epilepsy with auditory features http://ghr.nlm.nih.gov/condition=autosomaldominantpartialepilepsywithauditoryfeatures autosomal recessive spastic ataxia of Charlevoix-Saguenay http://ghr.nlm.nih.gov/condition=autosomalrecessivespasticataxiaofcharlevoixsaguenay Baller-Gerold syndrome http://ghr.nlm.nih.gov/condition=ballergeroldsyndrome Beare-Stevenson cutis gyrata syndrome http://ghr.nlm.nih.gov/condition=bearestevensoncutisgyratasyndrome Beckwith-Wiedemann syndrome http://ghr.nlm.nih.gov/condition=beckwithwiedemannsyndrome Berardinelli-Seip congenital lipodystrophy http://ghr.nlm.nih.gov/condition=berardinelliseipcongenitallipodystrophy 17-beta hydroxysteroid dehydrogenase 3 deficiency http://ghr.nlm.nih.gov/condition=17betahydroxysteroiddehydrogenase3deficiency 17β-hydroxysteroid dehydrogenase type 10 deficiency http://ghr.nlm.nih.gov/condition=17betahydroxysteroiddehydrogenasetype10deficiency beta-ketothiolase deficiency http://ghr.nlm.nih.gov/condition=betaketothiolasedeficiency beta-mannosidosis http://ghr.nlm.nih.gov/condition=betamannosidosis beta thalassemia http://ghr.nlm.nih.gov/condition=betathalassemia biotinidase deficiency http://ghr.nlm.nih.gov/condition=biotinidasedeficiency Birt-Hogg-Dubé syndrome http://ghr.nlm.nih.gov/condition=birthoggdubesyndrome bladder cancer http://ghr.nlm.nih.gov/condition=bladdercancer blepharophimosis, ptosis, and epicanthus inversus syndrome http://ghr.nlm.nih.gov/condition=blepharophimosisptosisandepicanthusinversussyndrome Bloom syndrome http://ghr.nlm.nih.gov/condition=bloomsyndrome branchiootorenal syndrome http://ghr.nlm.nih.gov/condition=branchiootorenalsyndrome breast cancer http://ghr.nlm.nih.gov/condition=breastcancer Brugada syndrome http://ghr.nlm.nih.gov/condition=brugadasyndrome campomelic dysplasia http://ghr.nlm.nih.gov/condition=campomelicdysplasia Camurati-Engelmann disease http://ghr.nlm.nih.gov/condition=camuratiengelmanndisease Canavan disease http://ghr.nlm.nih.gov/condition=canavandisease carbamoyl phosphate synthetase I deficiency http://ghr.nlm.nih.gov/condition=carbamoylphosphatesynthetaseideficiency cardiofaciocutaneous syndrome http://ghr.nlm.nih.gov/condition=cardiofaciocutaneoussyndrome carnitine-acylcarnitine translocase deficiency http://ghr.nlm.nih.gov/condition=carnitineacylcarnitinetranslocasedeficiency carnitine palmitoyltransferase 2 deficiency http://ghr.nlm.nih.gov/condition=carnitinepalmitoyltransferase2deficiency carnitine palmitoyltransferase I deficiency http://ghr.nlm.nih.gov/condition=carnitinepalmitoyltransferaseideficiency cartilage-hair hypoplasia http://ghr.nlm.nih.gov/condition=cartilagehairhypoplasia central core disease http://ghr.nlm.nih.gov/condition=centralcoredisease cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy http://ghr.nlm.nih.gov/condition=cerebralautosomaldominantarteriopathywithsubcorticalinfarctsandleukoencephalopathy cerebral cavernous malformation http://ghr.nlm.nih.gov/condition=cerebralcavernousmalformation cerebrotendinous xanthomatosis http://ghr.nlm.nih.gov/condition=cerebrotendinousxanthomatosis Chanarin-Dorfman syndrome http://ghr.nlm.nih.gov/condition=chanarindorfmansyndrome Char syndrome http://ghr.nlm.nih.gov/condition=charsyndrome Charcot-Marie-Tooth disease http://ghr.nlm.nih.gov/condition=charcotmarietoothdisease CHARGE syndrome http://ghr.nlm.nih.gov/condition=chargesyndrome Chediak-Higashi syndrome http://ghr.nlm.nih.gov/condition=chediakhigashisyndrome cherubism http://ghr.nlm.nih.gov/condition=cherubism cholesteryl ester storage disease http://ghr.nlm.nih.gov/condition=cholesterylesterstoragedisease chorea-acanthocytosis http://ghr.nlm.nih.gov/condition=choreaacanthocytosis choroideremia http://ghr.nlm.nih.gov/condition=choroideremia chylomicron retention disease http://ghr.nlm.nih.gov/condition=chylomicronretentiondisease citrullinemia http://ghr.nlm.nih.gov/condition=citrullinemia cleidocranial dysplasia http://ghr.nlm.nih.gov/condition=cleidocranialdysplasia Cockayne syndrome http://ghr.nlm.nih.gov/condition=cockaynesyndrome Coffin-Lowry syndrome http://ghr.nlm.nih.gov/condition=coffinlowrysyndrome Cohen syndrome http://ghr.nlm.nih.gov/condition=cohensyndrome color vision deficiency http://ghr.nlm.nih.gov/condition=colorvisiondeficiency congenital bilateral absence of the vas deferens http://ghr.nlm.nih.gov/condition=congenitalbilateralabsenceofthevasdeferens congenital central hypoventilation syndrome http://ghr.nlm.nih.gov/condition=congenitalcentralhypoventilationsyndrome congenital contractural arachnodactyly http://ghr.nlm.nih.gov/condition=congenitalcontracturalarachnodactyly congenital dyserythropoietic anemia http://ghr.nlm.nih.gov/condition=congenitaldyserythropoieticanemia congenital fibrosis of the extraocular muscles http://ghr.nlm.nih.gov/condition=congenitalfibrosisoftheextraocularmuscles congenital hemidysplasia with ichthyosiform erythroderma and limb defects http://ghr.nlm.nih.gov/condition=congenitalhemidysplasiawithichthyosiformerythrodermaandlimbdefects congenital hypothyroidism http://ghr.nlm.nih.gov/condition=congenitalhypothyroidism congenital stromal corneal dystrophy http://ghr.nlm.nih.gov/condition=congenitalstromalcornealdystrophy congenital sucrase-isomaltase deficiency http://ghr.nlm.nih.gov/condition=congenitalsucraseisomaltasedeficiency Cornelia de Lange syndrome http://ghr.nlm.nih.gov/condition=corneliadelangesyndrome Costello syndrome http://ghr.nlm.nih.gov/condition=costellosyndrome Cowden syndrome http://ghr.nlm.nih.gov/condition=cowdensyndrome craniometaphyseal dysplasia http://ghr.nlm.nih.gov/condition=craniometaphysealdysplasia cri-du-chat syndrome http://ghr.nlm.nih.gov/condition=criduchatsyndrome Crohn disease http://ghr.nlm.nih.gov/condition=crohndisease Crouzon syndrome http://ghr.nlm.nih.gov/condition=crouzonsyndrome Crouzonodermoskeletal syndrome http://ghr.nlm.nih.gov/condition=crouzonodermoskeletalsyndrome cutis laxa http://ghr.nlm.nih.gov/condition=cutislaxa cyclic vomiting syndrome http://ghr.nlm.nih.gov/condition=cyclicvomitingsyndrome cystic fibrosis http://ghr.nlm.nih.gov/condition=cysticfibrosis cystinosis http://ghr.nlm.nih.gov/condition=cystinosis cystinuria http://ghr.nlm.nih.gov/condition=cystinuria Czech dysplasia http://ghr.nlm.nih.gov/condition=czechdysplasia Darier disease http://ghr.nlm.nih.gov/condition=darierdisease deafness-dystonia-optic neuronopathy syndrome http://ghr.nlm.nih.gov/condition=deafnessdystoniaopticneuronopathysyndrome 1p36 deletion syndrome http://ghr.nlm.nih.gov/condition=1p36deletionsyndrome 2q37 deletion syndrome http://ghr.nlm.nih.gov/condition=2q37deletionsyndrome 16p11.2 deletion syndrome http://ghr.nlm.nih.gov/condition=16p112deletionsyndrome 22q11.2 deletion syndrome http://ghr.nlm.nih.gov/condition=22q112deletionsyndrome 22q13.3 deletion syndrome http://ghr.nlm.nih.gov/condition=22q133deletionsyndrome dentatorubral-pallidoluysian atrophy http://ghr.nlm.nih.gov/condition=dentatorubralpallidoluysianatrophy dentinogenesis imperfecta http://ghr.nlm.nih.gov/condition=dentinogenesisimperfecta Diamond-Blackfan anemia http://ghr.nlm.nih.gov/condition=diamondblackfananemia diastrophic dysplasia http://ghr.nlm.nih.gov/condition=diastrophicdysplasia distal hereditary motor neuropathy, type V http://ghr.nlm.nih.gov/condition=distalhereditarymotorneuropathytypev Donnai-Barrow syndrome http://ghr.nlm.nih.gov/condition=donnaibarrowsyndrome dopamine beta-hydroxylase deficiency http://ghr.nlm.nih.gov/condition=dopaminebetahydroxylasedeficiency Down syndrome http://ghr.nlm.nih.gov/condition=downsyndrome Duane-radial ray syndrome http://ghr.nlm.nih.gov/condition=duaneradialraysyndrome Dubin-Johnson syndrome http://ghr.nlm.nih.gov/condition=dubinjohnsonsyndrome Duchenne and Becker muscular dystrophy http://ghr.nlm.nih.gov/condition=duchenneandbeckermusculardystrophy 22q11.2 duplication http://ghr.nlm.nih.gov/condition=22q112duplication dystrophic epidermolysis bullosa http://ghr.nlm.nih.gov/condition=dystrophicepidermolysisbullosa early-onset glaucoma http://ghr.nlm.nih.gov/condition=earlyonsetglaucoma early-onset primary dystonia http://ghr.nlm.nih.gov/condition=earlyonsetprimarydystonia Ehlers-Danlos syndrome http://ghr.nlm.nih.gov/condition=ehlersdanlossyndrome Ellis-van Creveld syndrome http://ghr.nlm.nih.gov/condition=ellisvancreveldsyndrome Emanuel syndrome http://ghr.nlm.nih.gov/condition=emanuelsyndrome Emery-Dreifuss muscular dystrophy http://ghr.nlm.nih.gov/condition=emerydreifussmusculardystrophy enlarged parietal foramina http://ghr.nlm.nih.gov/condition=enlargedparietalforamina epidermolysis bullosa simplex http://ghr.nlm.nih.gov/condition=epidermolysisbullosasimplex epidermolysis bullosa with pyloric atresia http://ghr.nlm.nih.gov/condition=epidermolysisbullosawithpyloricatresia episodic ataxia http://ghr.nlm.nih.gov/condition=episodicataxia erythromelalgia http://ghr.nlm.nih.gov/condition=erythromelalgia essential tremor http://ghr.nlm.nih.gov/condition=essentialtremor ethylmalonic encephalopathy http://ghr.nlm.nih.gov/condition=ethylmalonicencephalopathy Fabry disease http://ghr.nlm.nih.gov/condition=fabrydisease facioscapulohumeral muscular dystrophy http://ghr.nlm.nih.gov/condition=facioscapulohumeralmusculardystrophy factor V Leiden thrombophilia http://ghr.nlm.nih.gov/condition=factorvleidenthrombophilia familial adenomatous polyposis http://ghr.nlm.nih.gov/condition=familialadenomatouspolyposis familial atrial fibrillation http://ghr.nlm.nih.gov/condition=familialatrialfibrillation familial cold autoinflammatory syndrome http://ghr.nlm.nih.gov/condition=familialcoldautoinflammatorysyndrome familial dysautonomia http://ghr.nlm.nih.gov/condition=familialdysautonomia familial encephalopathy with neuroserpin inclusion bodies http://ghr.nlm.nih.gov/condition=familialencephalopathywithneuroserpininclusionbodies familial exudative vitreoretinopathy http://ghr.nlm.nih.gov/condition=familialexudativevitreoretinopathy familial hemiplegic migraine http://ghr.nlm.nih.gov/condition=familialhemiplegicmigraine familial lipoprotein lipase deficiency http://ghr.nlm.nih.gov/condition=familiallipoproteinlipasedeficiency familial Mediterranean fever http://ghr.nlm.nih.gov/condition=familialmediterraneanfever familial paroxysmal nonkinesigenic dyskinesia http://ghr.nlm.nih.gov/condition=familialparoxysmalnonkinesigenicdyskinesia Farber lipogranulomatosis http://ghr.nlm.nih.gov/condition=farberlipogranulomatosis Feingold syndrome http://ghr.nlm.nih.gov/condition=feingoldsyndrome FG syndrome http://ghr.nlm.nih.gov/condition=fgsyndrome fibrodysplasia ossificans progressiva http://ghr.nlm.nih.gov/condition=fibrodysplasiaossificansprogressiva focal dermal hypoplasia http://ghr.nlm.nih.gov/condition=focaldermalhypoplasia fragile X syndrome http://ghr.nlm.nih.gov/condition=fragilexsyndrome Friedreich ataxia http://ghr.nlm.nih.gov/condition=friedreichataxia frontometaphyseal dysplasia http://ghr.nlm.nih.gov/condition=frontometaphysealdysplasia fucosidosis http://ghr.nlm.nih.gov/condition=fucosidosis Fukuyama congenital muscular dystrophy http://ghr.nlm.nih.gov/condition=fukuyamacongenitalmusculardystrophy fumarase deficiency http://ghr.nlm.nih.gov/condition=fumarasedeficiency galactosemia http://ghr.nlm.nih.gov/condition=galactosemia galactosialidosis http://ghr.nlm.nih.gov/condition=galactosialidosis Gaucher disease http://ghr.nlm.nih.gov/condition=gaucherdisease giant axonal neuropathy http://ghr.nlm.nih.gov/condition=giantaxonalneuropathy glucose-6-phosphate dehydrogenase deficiency http://ghr.nlm.nih.gov/condition=glucose6phosphatedehydrogenasedeficiency glucose-galactose malabsorption http://ghr.nlm.nih.gov/condition=glucosegalactosemalabsorption GLUT1 deficiency syndrome http://ghr.nlm.nih.gov/condition=glut1deficiencysyndrome glutamate formiminotransferase deficiency http://ghr.nlm.nih.gov/condition=glutamateformiminotransferasedeficiency glutaric acidemia type I http://ghr.nlm.nih.gov/condition=glutaricacidemiatypei glutaric acidemia type II http://ghr.nlm.nih.gov/condition=glutaricacidemiatypeii glutathione synthetase deficiency http://ghr.nlm.nih.gov/condition=glutathionesynthetasedeficiency glycine encephalopathy http://ghr.nlm.nih.gov/condition=glycineencephalopathy GM2-gangliosidosis, AB variant http://ghr.nlm.nih.gov/condition=gm2gangliosidosisabvariant Gorlin syndrome http://ghr.nlm.nih.gov/condition=gorlinsyndrome Greig cephalopolysyndactyly syndrome http://ghr.nlm.nih.gov/condition=greigcephalopolysyndactylysyndrome guanidinoacetate methyltransferase deficiency http://ghr.nlm.nih.gov/condition=guanidinoacetatemethyltransferasedeficiency gyrate atrophy of the choroid and retina http://ghr.nlm.nih.gov/condition=gyrateatrophyofthechoroidandretina hand-foot-genital syndrome http://ghr.nlm.nih.gov/condition=handfootgenitalsyndrome harlequin ichthyosis http://ghr.nlm.nih.gov/condition=harlequinichthyosis hemochromatosis http://ghr.nlm.nih.gov/condition=hemochromatosis hemophilia http://ghr.nlm.nih.gov/condition=hemophilia hepatic veno-occlusive disease with immunodeficiency http://ghr.nlm.nih.gov/condition=hepaticvenoocclusivediseasewithimmunodeficiency hereditary angioedema http://ghr.nlm.nih.gov/condition=hereditaryangioedema hereditary antithrombin deficiency http://ghr.nlm.nih.gov/condition=hereditaryantithrombindeficiency hereditary folate malabsorption http://ghr.nlm.nih.gov/condition=hereditaryfolatemalabsorption hereditary hemorrhagic telangiectasia http://ghr.nlm.nih.gov/condition=hereditaryhemorrhagictelangiectasia hereditary leiomyomatosis and renal cell cancer http://ghr.nlm.nih.gov/condition=hereditaryleiomyomatosisandrenalcellcancer hereditary multiple exostoses http://ghr.nlm.nih.gov/condition=hereditarymultipleexostoses hereditary neuralgic amyotrophy http://ghr.nlm.nih.gov/condition=hereditaryneuralgicamyotrophy hereditary neuropathy with liability to pressure palsies http://ghr.nlm.nih.gov/condition=hereditaryneuropathywithliabilitytopressurepalsies histidinemia http://ghr.nlm.nih.gov/condition=histidinemia holocarboxylase synthetase deficiency http://ghr.nlm.nih.gov/condition=holocarboxylasesynthetasedeficiency Holt-Oram syndrome http://ghr.nlm.nih.gov/condition=holtoramsyndrome homocystinuria http://ghr.nlm.nih.gov/condition=homocystinuria horizontal gaze palsy with progressive scoliosis http://ghr.nlm.nih.gov/condition=horizontalgazepalsywithprogressivescoliosis Huntington disease http://ghr.nlm.nih.gov/condition=huntingtondisease Huntington disease-like syndrome http://ghr.nlm.nih.gov/condition=huntingtondiseaselikesyndrome Hutchinson-Gilford progeria syndrome http://ghr.nlm.nih.gov/condition=hutchinsongilfordprogeriasyndrome 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency http://ghr.nlm.nih.gov/condition=3hydroxy3methylglutarylcoenzymealyasedeficiency 3-hydroxyacyl-coenzyme A dehydrogenase deficiency http://ghr.nlm.nih.gov/condition=3hydroxyacylcoenzymeadehydrogenasedeficiency 2-hydroxyglutaric aciduria http://ghr.nlm.nih.gov/condition=2hydroxyglutaricaciduria 21-hydroxylase deficiency http://ghr.nlm.nih.gov/condition=21hydroxylasedeficiency hypercholesterolemia http://ghr.nlm.nih.gov/condition=hypercholesterolemia hyperkalemic periodic paralysis http://ghr.nlm.nih.gov/condition=hyperkalemicperiodicparalysis hyperlysinemia http://ghr.nlm.nih.gov/condition=hyperlysinemia hypermethioninemia http://ghr.nlm.nih.gov/condition=hypermethioninemia hyperprolinemia http://ghr.nlm.nih.gov/condition=hyperprolinemia hypochondrogenesis http://ghr.nlm.nih.gov/condition=hypochondrogenesis hypochondroplasia http://ghr.nlm.nih.gov/condition=hypochondroplasia hypohidrotic ectodermal dysplasia http://ghr.nlm.nih.gov/condition=hypohidroticectodermaldysplasia hypokalemic periodic paralysis http://ghr.nlm.nih.gov/condition=hypokalemicperiodicparalysis hypomyelination and congenital cataract http://ghr.nlm.nih.gov/condition=hypomyelinationandcongenitalcataract hypophosphatasia http://ghr.nlm.nih.gov/condition=hypophosphatasia immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome http://ghr.nlm.nih.gov/condition=immunedysregulationpolyendocrinopathyenteropathyxlinkedsyndrome inclusion body myopathy 2 http://ghr.nlm.nih.gov/condition=inclusionbodymyopathy2 inclusion body myopathy with early-onset Paget disease and frontotemporal dementia http://ghr.nlm.nih.gov/condition=inclusionbodymyopathywithearlyonsetpagetdiseaseandfrontotemporaldementia incontinentia pigmenti http://ghr.nlm.nih.gov/condition=incontinentiapigmenti infantile neuroaxonal dystrophy http://ghr.nlm.nih.gov/condition=infantileneuroaxonaldystrophy infantile-onset ascending hereditary spastic paralysis http://ghr.nlm.nih.gov/condition=infantileonsetascendinghereditaryspasticparalysis infantile systemic hyalinosis http://ghr.nlm.nih.gov/condition=infantilesystemichyalinosis inherited thyroxine-binding globulin deficiency http://ghr.nlm.nih.gov/condition=inheritedthyroxinebindingglobulindeficiency isobutyryl-coenzyme A dehydrogenase deficiency http://ghr.nlm.nih.gov/condition=isobutyrylcoenzymeadehydrogenasedeficiency isolated Duane retraction syndrome http://ghr.nlm.nih.gov/condition=isolatedduaneretractionsyndrome isovaleric acidemia http://ghr.nlm.nih.gov/condition=isovalericacidemia Jackson-Weiss syndrome http://ghr.nlm.nih.gov/condition=jacksonweisssyndrome Jacobsen syndrome http://ghr.nlm.nih.gov/condition=jacobsensyndrome Jervell and Lange-Nielsen syndrome http://ghr.nlm.nih.gov/condition=jervellandlangenielsensyndrome Job syndrome http://ghr.nlm.nih.gov/condition=jobsyndrome junctional epidermolysis bullosa http://ghr.nlm.nih.gov/condition=junctionalepidermolysisbullosa juvenile Batten disease http://ghr.nlm.nih.gov/condition=juvenilebattendisease juvenile hyaline fibromatosis http://ghr.nlm.nih.gov/condition=juvenilehyalinefibromatosis juvenile polyposis syndrome http://ghr.nlm.nih.gov/condition=juvenilepolyposissyndrome juvenile primary lateral sclerosis http://ghr.nlm.nih.gov/condition=juvenileprimarylateralsclerosis Kallmann syndrome http://ghr.nlm.nih.gov/condition=kallmannsyndrome Klinefelter syndrome http://ghr.nlm.nih.gov/condition=klinefeltersyndrome Kniest dysplasia http://ghr.nlm.nih.gov/condition=kniestdysplasia Krabbe disease http://ghr.nlm.nih.gov/condition=krabbedisease L1 syndrome http://ghr.nlm.nih.gov/condition=l1syndrome Lafora progressive myoclonus epilepsy http://ghr.nlm.nih.gov/condition=laforaprogressivemyoclonusepilepsy Laing distal myopathy http://ghr.nlm.nih.gov/condition=laingdistalmyopathy Langer-Giedion syndrome http://ghr.nlm.nih.gov/condition=langergiedionsyndrome Leber hereditary optic neuropathy http://ghr.nlm.nih.gov/condition=leberhereditaryopticneuropathy Lenz microphthalmia syndrome http://ghr.nlm.nih.gov/condition=lenzmicrophthalmiasyndrome Lesch-Nyhan syndrome http://ghr.nlm.nih.gov/condition=leschnyhansyndrome leukoencephalopathy with vanishing white matter http://ghr.nlm.nih.gov/condition=leukoencephalopathywithvanishingwhitematter Li-Fraumeni syndrome http://ghr.nlm.nih.gov/condition=lifraumenisyndrome long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency http://ghr.nlm.nih.gov/condition=longchain3hydroxyacylcoenzymeadehydrogenasedeficiency Lowe syndrome http://ghr.nlm.nih.gov/condition=lowesyndrome lymphedema-distichiasis syndrome http://ghr.nlm.nih.gov/condition=lymphedemadistichiasissyndrome Lynch syndrome http://ghr.nlm.nih.gov/condition=lynchsyndrome lysinuric protein intolerance http://ghr.nlm.nih.gov/condition=lysinuricproteinintolerance 3-M syndrome http://ghr.nlm.nih.gov/condition=3msyndrome Majeed syndrome http://ghr.nlm.nih.gov/condition=majeedsyndrome malignant hyperthermia http://ghr.nlm.nih.gov/condition=malignanthyperthermia malonyl-coenzyme A decarboxylase deficiency http://ghr.nlm.nih.gov/condition=malonylcoenzymeadecarboxylasedeficiency maple syrup urine disease http://ghr.nlm.nih.gov/condition=maplesyrupurinedisease Marfan syndrome http://ghr.nlm.nih.gov/condition=marfansyndrome Marinesco-Sjögren syndrome http://ghr.nlm.nih.gov/condition=marinescosjogrensyndrome McCune-Albright syndrome http://ghr.nlm.nih.gov/condition=mccunealbrightsyndrome McKusick-Kaufman syndrome http://ghr.nlm.nih.gov/condition=mckusickkaufmansyndrome McLeod neuroacanthocytosis syndrome http://ghr.nlm.nih.gov/condition=mcleodneuroacanthocytosissyndrome medium-chain acyl-coenzyme A dehydrogenase deficiency http://ghr.nlm.nih.gov/condition=mediumchainacylcoenzymeadehydrogenasedeficiency megalencephalic leukoencephalopathy with subcortical cysts http://ghr.nlm.nih.gov/condition=megalencephalicleukoencephalopathywithsubcorticalcysts Melnick-Needles syndrome http://ghr.nlm.nih.gov/condition=melnickneedlessyndrome Menkes syndrome http://ghr.nlm.nih.gov/condition=menkessyndrome metachromatic leukodystrophy http://ghr.nlm.nih.gov/condition=metachromaticleukodystrophy methemoglobinemia, beta-globin type http://ghr.nlm.nih.gov/condition=methemoglobinemiabetaglobintype 2-methylbutyryl-coenzyme A dehydrogenase deficiency http://ghr.nlm.nih.gov/condition=2methylbutyrylcoenzymeadehydrogenasedeficiency 3-methylcrotonyl-coenzyme A carboxylase deficiency http://ghr.nlm.nih.gov/condition=3methylcrotonylcoenzymeacarboxylasedeficiency 3-methylglutaconic aciduria http://ghr.nlm.nih.gov/condition=3methylglutaconicaciduria methylmalonic acidemia http://ghr.nlm.nih.gov/condition=methylmalonicacidemia microphthalmia with linear skin defects syndrome http://ghr.nlm.nih.gov/condition=microphthalmiawithlinearskindefectssyndrome Miller-Dieker syndrome http://ghr.nlm.nih.gov/condition=millerdiekersyndrome Milroy disease http://ghr.nlm.nih.gov/condition=milroydisease mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes http://ghr.nlm.nih.gov/condition=mitochondrialencephalomyopathylacticacidosisandstrokelikeepisodes mitochondrial neurogastrointestinal encephalopathy disease http://ghr.nlm.nih.gov/condition=mitochondrialneurogastrointestinalencephalopathydisease mitochondrial trifunctional protein deficiency http://ghr.nlm.nih.gov/condition=mitochondrialtrifunctionalproteindeficiency Mowat-Wilson syndrome http://ghr.nlm.nih.gov/condition=mowatwilsonsyndrome Muckle-Wells syndrome http://ghr.nlm.nih.gov/condition=mucklewellssyndrome mucolipidosis II alpha/beta http://ghr.nlm.nih.gov/condition=mucolipidosisiialphabeta mucolipidosis III alpha/beta http://ghr.nlm.nih.gov/condition=mucolipidosisiiialphabeta mucolipidosis III gamma http://ghr.nlm.nih.gov/condition=mucolipidosisiiigamma mucolipidosis type IV http://ghr.nlm.nih.gov/condition=mucolipidosistypeiv mucopolysaccharidosis type I http://ghr.nlm.nih.gov/condition=mucopolysaccharidosistypei mucopolysaccharidosis type II http://ghr.nlm.nih.gov/condition=mucopolysaccharidosistypeii Muenke syndrome http://ghr.nlm.nih.gov/condition=muenkesyndrome multiminicore disease http://ghr.nlm.nih.gov/condition=multiminicoredisease multiple cutaneous and mucosal venous malformations http://ghr.nlm.nih.gov/condition=multiplecutaneousandmucosalvenousmalformations multiple endocrine neoplasia http://ghr.nlm.nih.gov/condition=multipleendocrineneoplasia multiple epiphyseal dysplasia http://ghr.nlm.nih.gov/condition=multipleepiphysealdysplasia myoclonus-dystonia http://ghr.nlm.nih.gov/condition=myoclonusdystonia myostatin-related muscle hypertrophy http://ghr.nlm.nih.gov/condition=myostatinrelatedmusclehypertrophy myotonia congenita http://ghr.nlm.nih.gov/condition=myotoniacongenita myotonic dystrophy http://ghr.nlm.nih.gov/condition=myotonicdystrophy N-acetylglutamate synthase deficiency http://ghr.nlm.nih.gov/condition=nacetylglutamatesynthasedeficiency nail-patella syndrome http://ghr.nlm.nih.gov/condition=nailpatellasyndrome neonatal onset multisystem inflammatory disease http://ghr.nlm.nih.gov/condition=neonatalonsetmultisysteminflammatorydisease neuroferritinopathy http://ghr.nlm.nih.gov/condition=neuroferritinopathy neurofibromatosis type 1 http://ghr.nlm.nih.gov/condition=neurofibromatosistype1 neurofibromatosis type 2 http://ghr.nlm.nih.gov/condition=neurofibromatosistype2 neuropathy, ataxia, and retinitis pigmentosa http://ghr.nlm.nih.gov/condition=neuropathyataxiaandretinitispigmentosa neutral lipid storage disease with myopathy http://ghr.nlm.nih.gov/condition=neutrallipidstoragediseasewithmyopathy Niemann-Pick disease http://ghr.nlm.nih.gov/condition=niemannpickdisease nonsyndromic deafness http://ghr.nlm.nih.gov/condition=nonsyndromicdeafness Noonan syndrome http://ghr.nlm.nih.gov/condition=noonansyndrome Norrie disease http://ghr.nlm.nih.gov/condition=norriedisease ocular albinism http://ghr.nlm.nih.gov/condition=ocularalbinism oculocutaneous albinism http://ghr.nlm.nih.gov/condition=oculocutaneousalbinism oculodentodigital dysplasia http://ghr.nlm.nih.gov/condition=oculodentodigitaldysplasia oculofaciocardiodental syndrome http://ghr.nlm.nih.gov/condition=oculofaciocardiodentalsyndrome oculopharyngeal muscular dystrophy http://ghr.nlm.nih.gov/condition=oculopharyngealmusculardystrophy Opitz G/BBB syndrome http://ghr.nlm.nih.gov/condition=opitzgbbbsyndrome optic atrophy type 1 http://ghr.nlm.nih.gov/condition=opticatrophytype1 ornithine transcarbamylase deficiency http://ghr.nlm.nih.gov/condition=ornithinetranscarbamylasedeficiency ornithine translocase deficiency http://ghr.nlm.nih.gov/condition=ornithinetranslocasedeficiency osteogenesis imperfecta http://ghr.nlm.nih.gov/condition=osteogenesisimperfecta otopalatodigital syndrome type 1 http://ghr.nlm.nih.gov/condition=otopalatodigitalsyndrometype1 otopalatodigital syndrome type 2 http://ghr.nlm.nih.gov/condition=otopalatodigitalsyndrometype2 otospondylomegaepiphyseal dysplasia http://ghr.nlm.nih.gov/condition=otospondylomegaepiphysealdysplasia pachyonychia congenita http://ghr.nlm.nih.gov/condition=pachyonychiacongenita Pallister-Hall syndrome http://ghr.nlm.nih.gov/condition=pallisterhallsyndrome Pallister-Killian mosaic syndrome http://ghr.nlm.nih.gov/condition=pallisterkillianmosaicsyndrome pantothenate kinase-associated neurodegeneration http://ghr.nlm.nih.gov/condition=pantothenatekinaseassociatedneurodegeneration paramyotonia congenita http://ghr.nlm.nih.gov/condition=paramyotoniacongenita Parkinson disease http://ghr.nlm.nih.gov/condition=parkinsondisease paroxysmal nocturnal hemoglobinuria http://ghr.nlm.nih.gov/condition=paroxysmalnocturnalhemoglobinuria Pelizaeus-Merzbacher disease http://ghr.nlm.nih.gov/condition=pelizaeusmerzbacherdisease Pendred syndrome http://ghr.nlm.nih.gov/condition=pendredsyndrome periventricular heterotopia http://ghr.nlm.nih.gov/condition=periventricularheterotopia Peters plus syndrome http://ghr.nlm.nih.gov/condition=petersplussyndrome Peutz-Jeghers syndrome http://ghr.nlm.nih.gov/condition=peutzjegherssyndrome Pfeiffer syndrome http://ghr.nlm.nih.gov/condition=pfeiffersyndrome phenylketonuria http://ghr.nlm.nih.gov/condition=phenylketonuria platyspondylic lethal skeletal dysplasia, Torrance type http://ghr.nlm.nih.gov/condition=platyspondyliclethalskeletaldysplasiatorrancetype polycystic kidney disease http://ghr.nlm.nih.gov/condition=polycystickidneydisease polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy http://ghr.nlm.nih.gov/condition=polycysticlipomembranousosteodysplasiawithsclerosingleukoencephalopathy polymicrogyria http://ghr.nlm.nih.gov/condition=polymicrogyria Pompe disease http://ghr.nlm.nih.gov/condition=pompedisease popliteal pterygium syndrome http://ghr.nlm.nih.gov/condition=poplitealpterygiumsyndrome porphyria http://ghr.nlm.nih.gov/condition=porphyria potassium-aggravated myotonia http://ghr.nlm.nih.gov/condition=potassiumaggravatedmyotonia Prader-Willi syndrome http://ghr.nlm.nih.gov/condition=praderwillisyndrome primary carnitine deficiency http://ghr.nlm.nih.gov/condition=primarycarnitinedeficiency primary hyperoxaluria http://ghr.nlm.nih.gov/condition=primaryhyperoxaluria prion disease http://ghr.nlm.nih.gov/condition=priondisease progressive osseous heteroplasia http://ghr.nlm.nih.gov/condition=progressiveosseousheteroplasia propionic acidemia http://ghr.nlm.nih.gov/condition=propionicacidemia protein C deficiency http://ghr.nlm.nih.gov/condition=proteincdeficiency protein S deficiency http://ghr.nlm.nih.gov/condition=proteinsdeficiency prothrombin deficiency http://ghr.nlm.nih.gov/condition=prothrombindeficiency prothrombin thrombophilia http://ghr.nlm.nih.gov/condition=prothrombinthrombophilia pseudoachondroplasia http://ghr.nlm.nih.gov/condition=pseudoachondroplasia pseudoxanthoma elasticum http://ghr.nlm.nih.gov/condition=pseudoxanthomaelasticum pulmonary arterial hypertension http://ghr.nlm.nih.gov/condition=pulmonaryarterialhypertension pyridoxal 5'-phosphate-dependent epilepsy http://ghr.nlm.nih.gov/condition=pyridoxal5phosphatedependentepilepsy pyridoxine-dependent epilepsy http://ghr.nlm.nih.gov/condition=pyridoxinedependentepilepsy pyruvate carboxylase deficiency http://ghr.nlm.nih.gov/condition=pyruvatecarboxylasedeficiency rapid-onset dystonia parkinsonism http://ghr.nlm.nih.gov/condition=rapidonsetdystoniaparkinsonism recombinant 8 syndrome http://ghr.nlm.nih.gov/condition=recombinant8syndrome renal coloboma syndrome http://ghr.nlm.nih.gov/condition=renalcolobomasyndrome retinoblastoma http://ghr.nlm.nih.gov/condition=retinoblastoma Rett syndrome http://ghr.nlm.nih.gov/condition=rettsyndrome ring chromosome 14 syndrome http://ghr.nlm.nih.gov/condition=ringchromosome14syndrome ring chromosome 20 syndrome http://ghr.nlm.nih.gov/condition=ringchromosome20syndrome Roberts syndrome http://ghr.nlm.nih.gov/condition=robertssyndrome Robinow syndrome http://ghr.nlm.nih.gov/condition=robinowsyndrome Romano-Ward syndrome http://ghr.nlm.nih.gov/condition=romanowardsyndrome Rothmund-Thomson Syndrome http://ghr.nlm.nih.gov/condition=rothmundthomsonsyndrome Rubinstein-Taybi syndrome http://ghr.nlm.nih.gov/condition=rubinsteintaybisyndrome Russell-Silver syndrome http://ghr.nlm.nih.gov/condition=russellsilversyndrome SADDAN http://ghr.nlm.nih.gov/condition=saddan Saethre-Chotzen syndrome http://ghr.nlm.nih.gov/condition=saethrechotzensyndrome Sandhoff disease http://ghr.nlm.nih.gov/condition=sandhoffdisease Schimke immuno-osseous dysplasia http://ghr.nlm.nih.gov/condition=schimkeimmunoosseousdysplasia short-chain acyl-coenzyme A dehydrogenase deficiency http://ghr.nlm.nih.gov/condition=shortchainacylcoenzymeadehydrogenasedeficiency short QT syndrome http://ghr.nlm.nih.gov/condition=shortqtsyndrome Shwachman-Diamond syndrome http://ghr.nlm.nih.gov/condition=shwachmandiamondsyndrome sialic acid storage disease http://ghr.nlm.nih.gov/condition=sialicacidstoragedisease sialuria http://ghr.nlm.nih.gov/condition=sialuria sickle cell disease http://ghr.nlm.nih.gov/condition=sicklecelldisease Simpson-Golabi-Behmel syndrome http://ghr.nlm.nih.gov/condition=simpsongolabibehmelsyndrome Smith-Lemli-Opitz syndrome http://ghr.nlm.nih.gov/condition=smithlemliopitzsyndrome Smith-Magenis syndrome http://ghr.nlm.nih.gov/condition=smithmagenissyndrome SOST-related sclerosing bone dysplasia http://ghr.nlm.nih.gov/condition=sostrelatedsclerosingbonedysplasia Sotos syndrome http://ghr.nlm.nih.gov/condition=sotossyndrome SOX2 anophthalmia syndrome http://ghr.nlm.nih.gov/condition=sox2anophthalmiasyndrome spastic paraplegia type 2 http://ghr.nlm.nih.gov/condition=spasticparaplegiatype2 spastic paraplegia type 3A http://ghr.nlm.nih.gov/condition=spasticparaplegiatype3a spastic paraplegia type 4 http://ghr.nlm.nih.gov/condition=spasticparaplegiatype4 spastic paraplegia type 7 http://ghr.nlm.nih.gov/condition=spasticparaplegiatype7 spastic paraplegia type 8 http://ghr.nlm.nih.gov/condition=spasticparaplegiatype8 spastic paraplegia type 11 http://ghr.nlm.nih.gov/condition=spasticparaplegiatype11 spinal and bulbar muscular atrophy http://ghr.nlm.nih.gov/condition=spinalandbulbarmuscularatrophy spinal muscular atrophy http://ghr.nlm.nih.gov/condition=spinalmuscularatrophy spondyloepimetaphyseal dysplasia, Strudwick type http://ghr.nlm.nih.gov/condition=spondyloepimetaphysealdysplasiastrudwicktype spondyloepiphyseal dysplasia congenita http://ghr.nlm.nih.gov/condition=spondyloepiphysealdysplasiacongenita spondyloperipheral dysplasia http://ghr.nlm.nih.gov/condition=spondyloperipheraldysplasia Stickler syndrome http://ghr.nlm.nih.gov/condition=sticklersyndrome succinate-coenzyme A ligase deficiency http://ghr.nlm.nih.gov/condition=succinatecoenzymealigasedeficiency succinic semialdehyde dehydrogenase deficiency http://ghr.nlm.nih.gov/condition=succinicsemialdehydedehydrogenasedeficiency Swyer syndrome http://ghr.nlm.nih.gov/condition=swyersyndrome Tangier disease http://ghr.nlm.nih.gov/condition=tangierdisease Tay-Sachs disease http://ghr.nlm.nih.gov/condition=taysachsdisease tetra-amelia syndrome http://ghr.nlm.nih.gov/condition=tetraameliasyndrome tetrahydrobiopterin deficiency http://ghr.nlm.nih.gov/condition=tetrahydrobiopterindeficiency thanatophoric dysplasia http://ghr.nlm.nih.gov/condition=thanatophoricdysplasia thiamine-responsive megaloblastic anemia syndrome http://ghr.nlm.nih.gov/condition=thiamineresponsivemegaloblasticanemiasyndrome thrombocytopenia-absent radius syndrome http://ghr.nlm.nih.gov/condition=thrombocytopeniaabsentradiussyndrome thrombotic thrombocytopenic purpura http://ghr.nlm.nih.gov/condition=thromboticthrombocytopenicpurpura tibial muscular dystrophy http://ghr.nlm.nih.gov/condition=tibialmusculardystrophy Timothy syndrome http://ghr.nlm.nih.gov/condition=timothysyndrome Tourette syndrome http://ghr.nlm.nih.gov/condition=tourettesyndrome Townes-Brocks Syndrome http://ghr.nlm.nih.gov/condition=townesbrockssyndrome transthyretin amyloidosis http://ghr.nlm.nih.gov/condition=transthyretinamyloidosis Treacher Collins syndrome http://ghr.nlm.nih.gov/condition=treachercollinssyndrome trimethylaminuria http://ghr.nlm.nih.gov/condition=trimethylaminuria triple X syndrome http://ghr.nlm.nih.gov/condition=triplexsyndrome trisomy 13 http://ghr.nlm.nih.gov/condition=trisomy13 trisomy 18 http://ghr.nlm.nih.gov/condition=trisomy18 Troyer syndrome http://ghr.nlm.nih.gov/condition=troyersyndrome tuberous sclerosis complex http://ghr.nlm.nih.gov/condition=tuberoussclerosiscomplex Turner syndrome http://ghr.nlm.nih.gov/condition=turnersyndrome tyrosine hydroxylase deficiency http://ghr.nlm.nih.gov/condition=tyrosinehydroxylasedeficiency tyrosinemia http://ghr.nlm.nih.gov/condition=tyrosinemia Unverricht-Lundborg disease http://ghr.nlm.nih.gov/condition=unverrichtlundborgdisease Usher syndrome http://ghr.nlm.nih.gov/condition=ushersyndrome van der Woude syndrome http://ghr.nlm.nih.gov/condition=vanderwoudesyndrome very long-chain acyl-coenzyme A dehydrogenase deficiency http://ghr.nlm.nih.gov/condition=verylongchainacylcoenzymeadehydrogenasedeficiency vitelliform macular dystrophy http://ghr.nlm.nih.gov/condition=vitelliformmaculardystrophy VLDLR-associated cerebellar hypoplasia http://ghr.nlm.nih.gov/condition=vldlrassociatedcerebellarhypoplasia von Hippel-Lindau syndrome http://ghr.nlm.nih.gov/condition=vonhippellindausyndrome von Willebrand disease http://ghr.nlm.nih.gov/condition=vonwillebranddisease Waardenburg syndrome http://ghr.nlm.nih.gov/condition=waardenburgsyndrome Weill-Marchesani syndrome http://ghr.nlm.nih.gov/condition=weillmarchesanisyndrome Weissenbacher-Zweymüller syndrome http://ghr.nlm.nih.gov/condition=weissenbacherzweymullersyndrome Werner syndrome http://ghr.nlm.nih.gov/condition=wernersyndrome Williams syndrome http://ghr.nlm.nih.gov/condition=williamssyndrome Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome http://ghr.nlm.nih.gov/condition=wilmstumoraniridiagenitourinaryanomaliesandmentalretardationsyndrome Wilson disease http://ghr.nlm.nih.gov/condition=wilsondisease Wiskott-Aldrich syndrome http://ghr.nlm.nih.gov/condition=wiskottaldrichsyndrome WNT4 Müllerian aplasia and ovarian dysfunction http://ghr.nlm.nih.gov/condition=wnt4mullerianaplasiaandovariandysfunction Wolf-Hirschhorn syndrome http://ghr.nlm.nih.gov/condition=wolfhirschhornsyndrome Wolff-Parkinson-White syndrome http://ghr.nlm.nih.gov/condition=wolffparkinsonwhitesyndrome Wolman disease http://ghr.nlm.nih.gov/condition=wolmandisease X-linked adrenal hypoplasia congenita http://ghr.nlm.nih.gov/condition=xlinkedadrenalhypoplasiacongenita X-linked adrenoleukodystrophy http://ghr.nlm.nih.gov/condition=xlinkedadrenoleukodystrophy X-linked agammaglobulinemia http://ghr.nlm.nih.gov/condition=xlinkedagammaglobulinemia X-linked congenital stationary night blindness http://ghr.nlm.nih.gov/condition=xlinkedcongenitalstationarynightblindness X-linked dystonia-parkinsonism http://ghr.nlm.nih.gov/condition=xlinkeddystoniaparkinsonism X-linked hyper IgM syndrome http://ghr.nlm.nih.gov/condition=xlinkedhyperigmsyndrome X-linked infantile nystagmus http://ghr.nlm.nih.gov/condition=xlinkedinfantilenystagmus X-linked juvenile retinoschisis http://ghr.nlm.nih.gov/condition=xlinkedjuvenileretinoschisis X-linked lissencephaly http://ghr.nlm.nih.gov/condition=xlinkedlissencephaly X-linked myotubular myopathy http://ghr.nlm.nih.gov/condition=xlinkedmyotubularmyopathy X-linked severe combined immunodeficiency http://ghr.nlm.nih.gov/condition=xlinkedseverecombinedimmunodeficiency X-linked sideroblastic anemia http://ghr.nlm.nih.gov/condition=xlinkedsideroblasticanemia X-linked sideroblastic anemia and ataxia http://ghr.nlm.nih.gov/condition=xlinkedsideroblasticanemiaandataxia X-linked spondyloepiphyseal dysplasia tarda http://ghr.nlm.nih.gov/condition=xlinkedspondyloepiphysealdysplasiatarda 46,XX testicular disorder of sex development http://ghr.nlm.nih.gov/condition=46xxtesticulardisorderofsexdevelopment 47,XYY syndrome http://ghr.nlm.nih.gov/condition=47xyysyndrome Y chromosome infertility http://ghr.nlm.nih.gov/condition=ychromosomeinfertility ZAP70-related severe combined immunodeficiency http://ghr.nlm.nih.gov/condition=zap70relatedseverecombinedimmunodeficiency Genes http://ghr.nlm.nih.gov/BrowseGenes AASS: aminoadipate-semialdehyde synthase http://ghr.nlm.nih.gov/gene=aass ABCA1: ATP-binding cassette, sub-family A (ABC1), member 1 http://ghr.nlm.nih.gov/gene=abca1 ABCA12: ATP-binding cassette, sub-family A (ABC1), member 12 http://ghr.nlm.nih.gov/gene=abca12 ABCB7: ATP-binding cassette, sub-family B (MDR/TAP), member 7 http://ghr.nlm.nih.gov/gene=abcb7 ABCC2: ATP-binding cassette, sub-family C (CFTR/MRP), member 2 http://ghr.nlm.nih.gov/gene=abcc2 ABCC6: ATP-binding cassette, sub-family C (CFTR/MRP), member 6 http://ghr.nlm.nih.gov/gene=abcc6 ABCD1: ATP-binding cassette, sub-family D (ALD), member 1 http://ghr.nlm.nih.gov/gene=abcd1 ABHD5: abhydrolase domain containing 5 http://ghr.nlm.nih.gov/gene=abhd5 ACAD8: acyl-Coenzyme A dehydrogenase family, member 8 http://ghr.nlm.nih.gov/gene=acad8 ACADM: acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain http://ghr.nlm.nih.gov/gene=acadm ACADS: acyl-Coenzyme A dehydrogenase, C-2 to C-3 short chain http://ghr.nlm.nih.gov/gene=acads ACADSB: acyl-Coenzyme A dehydrogenase, short/branched chain http://ghr.nlm.nih.gov/gene=acadsb ACADVL: acyl-coenzyme A dehydrogenase, very long chain http://ghr.nlm.nih.gov/gene=acadvl ACAT1: acetyl-Coenzyme A acetyltransferase 1 http://ghr.nlm.nih.gov/gene=acat1 ACTG1: actin, gamma 1 http://ghr.nlm.nih.gov/gene=actg1 ACVR1: activin A receptor, type I http://ghr.nlm.nih.gov/gene=acvr1 ACVRL1: activin A receptor type II-like 1 http://ghr.nlm.nih.gov/gene=acvrl1 ADA: adenosine deaminase http://ghr.nlm.nih.gov/gene=ada ADAMTS2: ADAM metallopeptidase with thrombospondin type 1 motif, 2 http://ghr.nlm.nih.gov/gene=adamts2 ADAMTS10: ADAM metallopeptidase with thrombospondin type 1 motif, 10 http://ghr.nlm.nih.gov/gene=adamts10 ADAMTS13: ADAM metallopeptidase with thrombospondin type 1 motif, 13 http://ghr.nlm.nih.gov/gene=adamts13 AGA: aspartylglucosaminidase http://ghr.nlm.nih.gov/gene=aga AGPAT2: 1-acylglycerol-3-phosphate O-acyltransferase 2 (lysophosphatidic acid acyltransferase, beta) http://ghr.nlm.nih.gov/gene=agpat2 AGXT: alanine-glyoxylate aminotransferase http://ghr.nlm.nih.gov/gene=agxt AHCY: adenosylhomocysteinase http://ghr.nlm.nih.gov/gene=ahcy AIRE: autoimmune regulator http://ghr.nlm.nih.gov/gene=aire ALAD: aminolevulinate, delta-, dehydratase http://ghr.nlm.nih.gov/gene=alad ALAS1: aminolevulinate, delta-, synthase 1 http://ghr.nlm.nih.gov/gene=alas1 ALAS2: aminolevulinate, delta-, synthase 2 http://ghr.nlm.nih.gov/gene=alas2 ALDH4A1: aldehyde dehydrogenase 4 family, member A1 http://ghr.nlm.nih.gov/gene=aldh4a1 ALDH5A1: aldehyde dehydrogenase 5 family, member A1 http://ghr.nlm.nih.gov/gene=aldh5a1 ALDH7A1: aldehyde dehydrogenase 7 family, member A1 http://ghr.nlm.nih.gov/gene=aldh7a1 ALMS1: Alstrom syndrome 1 http://ghr.nlm.nih.gov/gene=alms1 ALPL: alkaline phosphatase, liver/bone/kidney http://ghr.nlm.nih.gov/gene=alpl ALS2: amyotrophic lateral sclerosis 2 (juvenile) http://ghr.nlm.nih.gov/gene=als2 ALX4: ALX homeobox 4 http://ghr.nlm.nih.gov/gene=alx4 AMELX: amelogenin (amelogenesis imperfecta 1, X-linked) http://ghr.nlm.nih.gov/gene=amelx AMPD1: adenosine monophosphate deaminase 1 (isoform M) http://ghr.nlm.nih.gov/gene=ampd1 AMT: aminomethyltransferase http://ghr.nlm.nih.gov/gene=amt ANG: angiogenin, ribonuclease, RNase A family, 5 http://ghr.nlm.nih.gov/gene=ang ANK2: ankyrin 2, neuronal http://ghr.nlm.nih.gov/gene=ank2 ANKH: ankylosis, progressive homolog (mouse) http://ghr.nlm.nih.gov/gene=ankh ANTXR2: anthrax toxin receptor 2 http://ghr.nlm.nih.gov/gene=antxr2 APC: adenomatous polyposis coli http://ghr.nlm.nih.gov/gene=apc APOB: apolipoprotein B (including Ag(x) antigen) http://ghr.nlm.nih.gov/gene=apob APOE: apolipoprotein E http://ghr.nlm.nih.gov/gene=apoe APP: amyloid beta (A4) precursor protein http://ghr.nlm.nih.gov/gene=app APTX: aprataxin http://ghr.nlm.nih.gov/gene=aptx AR: androgen receptor http://ghr.nlm.nih.gov/gene=ar ARFGEF2: ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) http://ghr.nlm.nih.gov/gene=arfgef2 ARG1: arginase, liver http://ghr.nlm.nih.gov/gene=arg1 ARSA: arylsulfatase A http://ghr.nlm.nih.gov/gene=arsa ARX: aristaless related homeobox http://ghr.nlm.nih.gov/gene=arx ASAH1: N-acylsphingosine amidohydrolase (acid ceramidase) 1 http://ghr.nlm.nih.gov/gene=asah1 ASL: argininosuccinate lyase http://ghr.nlm.nih.gov/gene=asl ASPA: aspartoacylase (Canavan disease) http://ghr.nlm.nih.gov/gene=aspa ASS1: argininosuccinate synthetase 1 http://ghr.nlm.nih.gov/gene=ass1 ATG16L1: ATG16 autophagy related 16-like 1 (S. cerevisiae) http://ghr.nlm.nih.gov/gene=atg16l1 ATL1: atlastin GTPase 1 http://ghr.nlm.nih.gov/gene=atl1 ATM: ataxia telangiectasia mutated http://ghr.nlm.nih.gov/gene=atm ATN1: atrophin 1 http://ghr.nlm.nih.gov/gene=atn1 ATP1A2: ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide http://ghr.nlm.nih.gov/gene=atp1a2 ATP1A3: ATPase, Na+/K+ transporting, alpha 3 polypeptide http://ghr.nlm.nih.gov/gene=atp1a3 ATP2A2: ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 http://ghr.nlm.nih.gov/gene=atp2a2 ATP2B2: ATPase, Ca++ transporting, plasma membrane 2 http://ghr.nlm.nih.gov/gene=atp2b2 ATP6V0A2: ATPase, H+ transporting, lysosomal V0 subunit a2 http://ghr.nlm.nih.gov/gene=atp6v0a2 ATP7A: ATPase, Cu++ transporting, alpha polypeptide http://ghr.nlm.nih.gov/gene=atp7a ATP7B: ATPase, Cu++ transporting, beta polypeptide http://ghr.nlm.nih.gov/gene=atp7b ATRX: alpha thalassemia/mental retardation syndrome X-linked (RAD54 homolog, S. cerevisiae) http://ghr.nlm.nih.gov/gene=atrx AUH: AU RNA binding protein/enoyl-Coenzyme A hydratase http://ghr.nlm.nih.gov/gene=auh B3GALTL: beta 1,3-galactosyltransferase-like http://ghr.nlm.nih.gov/gene=b3galtl BARD1: BRCA1 associated RING domain 1 http://ghr.nlm.nih.gov/gene=bard1 BCKDHA: branched chain keto acid dehydrogenase E1, alpha polypeptide http://ghr.nlm.nih.gov/gene=bckdha BCKDHB: branched chain keto acid dehydrogenase E1, beta polypeptide http://ghr.nlm.nih.gov/gene=bckdhb BCOR: BCL6 co-repressor http://ghr.nlm.nih.gov/gene=bcor BEST1: bestrophin 1 http://ghr.nlm.nih.gov/gene=best1 BLM: Bloom syndrome, RecQ helicase-like http://ghr.nlm.nih.gov/gene=blm BMPR1A: bone morphogenetic protein receptor, type IA http://ghr.nlm.nih.gov/gene=bmpr1a BMPR2: bone morphogenetic protein receptor, type II (serine/threonine kinase) http://ghr.nlm.nih.gov/gene=bmpr2 BRAF: v-raf murine sarcoma viral oncogene homolog B1 http://ghr.nlm.nih.gov/gene=braf BRCA1: breast cancer 1, early onset http://ghr.nlm.nih.gov/gene=brca1 BRCA2: breast cancer 2, early onset http://ghr.nlm.nih.gov/gene=brca2 BRIP1: BRCA1 interacting protein C-terminal helicase 1 http://ghr.nlm.nih.gov/gene=brip1 BSCL2: Bernardinelli-Seip congenital lipodystrophy 2 (seipin) http://ghr.nlm.nih.gov/gene=bscl2 BTD: biotinidase http://ghr.nlm.nih.gov/gene=btd BTK: Bruton agammaglobulinemia tyrosine kinase http://ghr.nlm.nih.gov/gene=btk CACNA1A: calcium channel, voltage-dependent, P/Q type, alpha 1A subunit http://ghr.nlm.nih.gov/gene=cacna1a CACNA1C: calcium channel, voltage-dependent, L type, alpha 1C subunit http://ghr.nlm.nih.gov/gene=cacna1c CACNA1F: calcium channel, voltage-dependent, L type, alpha 1F subunit http://ghr.nlm.nih.gov/gene=cacna1f CACNA1S: calcium channel, voltage-dependent, L type, alpha 1S subunit http://ghr.nlm.nih.gov/gene=cacna1s CACNB4: calcium channel, voltage-dependent, beta 4 subunit http://ghr.nlm.nih.gov/gene=cacnb4 CBS: cystathionine-beta-synthase http://ghr.nlm.nih.gov/gene=cbs CCM2: cerebral cavernous malformation 2 http://ghr.nlm.nih.gov/gene=ccm2 CD40LG: CD40 ligand http://ghr.nlm.nih.gov/gene=cd40lg CDAN1: congenital dyserythropoietic anemia, type I http://ghr.nlm.nih.gov/gene=cdan1 CDH1: cadherin 1, type 1, E-cadherin (epithelial) http://ghr.nlm.nih.gov/gene=cdh1 CDH23: cadherin-like 23 http://ghr.nlm.nih.gov/gene=cdh23 CDKL5: cyclin-dependent kinase-like 5 http://ghr.nlm.nih.gov/gene=cdkl5 CDKN1C: cyclin-dependent kinase inhibitor 1C (p57, Kip2) http://ghr.nlm.nih.gov/gene=cdkn1c CFTR: cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) http://ghr.nlm.nih.gov/gene=cftr CHD7: chromodomain helicase DNA binding protein 7 http://ghr.nlm.nih.gov/gene=chd7 CHEK2: CHK2 checkpoint homolog (S. pombe) http://ghr.nlm.nih.gov/gene=chek2 CHM: choroideremia (Rab escort protein 1) http://ghr.nlm.nih.gov/gene=chm CHN1: chimerin (chimaerin) 1 http://ghr.nlm.nih.gov/gene=chn1 CHRNA2: cholinergic receptor, nicotinic, alpha 2 (neuronal) http://ghr.nlm.nih.gov/gene=chrna2 CHRNA4: cholinergic receptor, nicotinic, alpha 4 http://ghr.nlm.nih.gov/gene=chrna4 CHRNB2: cholinergic receptor, nicotinic, beta 2 (neuronal) http://ghr.nlm.nih.gov/gene=chrnb2 CLCN1: chloride channel 1, skeletal muscle http://ghr.nlm.nih.gov/gene=clcn1 CLDN14: claudin 14 http://ghr.nlm.nih.gov/gene=cldn14 CLIP2: CAP-GLY domain containing linker protein 2 http://ghr.nlm.nih.gov/gene=clip2 CLN3: ceroid-lipofuscinosis, neuronal 3 http://ghr.nlm.nih.gov/gene=cln3 CLRN1: clarin 1 http://ghr.nlm.nih.gov/gene=clrn1 CNBP: CCHC-type zinc finger, nucleic acid binding protein http://ghr.nlm.nih.gov/gene=cnbp CNGA3: cyclic nucleotide gated channel alpha 3 http://ghr.nlm.nih.gov/gene=cnga3 CNGB3: cyclic nucleotide gated channel beta 3 http://ghr.nlm.nih.gov/gene=cngb3 COCH: coagulation factor C homolog, cochlin (Limulus polyphemus) http://ghr.nlm.nih.gov/gene=coch COL1A1: collagen, type I, alpha 1 http://ghr.nlm.nih.gov/gene=col1a1 COL1A2: collagen, type I, alpha 2 http://ghr.nlm.nih.gov/gene=col1a2 COL2A1: collagen, type II, alpha 1 http://ghr.nlm.nih.gov/gene=col2a1 COL3A1: collagen, type III, alpha 1 http://ghr.nlm.nih.gov/gene=col3a1 COL4A3: collagen, type IV, alpha 3 (Goodpasture antigen) http://ghr.nlm.nih.gov/gene=col4a3 COL4A4: collagen, type IV, alpha 4 http://ghr.nlm.nih.gov/gene=col4a4 COL4A5: collagen, type IV, alpha 5 http://ghr.nlm.nih.gov/gene=col4a5 COL5A1: collagen, type V, alpha 1 http://ghr.nlm.nih.gov/gene=col5a1 COL5A2: collagen, type V, alpha 2 http://ghr.nlm.nih.gov/gene=col5a2 COL7A1: collagen, type VII, alpha 1 http://ghr.nlm.nih.gov/gene=col7a1 COL9A1: collagen, type IX, alpha 1 http://ghr.nlm.nih.gov/gene=col9a1 COL9A2: collagen, type IX, alpha 2 http://ghr.nlm.nih.gov/gene=col9a2 COL9A3: collagen, type IX, alpha 3 http://ghr.nlm.nih.gov/gene=col9a3 COL11A1: collagen, type XI, alpha 1 http://ghr.nlm.nih.gov/gene=col11a1 COL11A2: collagen, type XI, alpha 2 http://ghr.nlm.nih.gov/gene=col11a2 COL17A1: collagen, type XVII, alpha 1 http://ghr.nlm.nih.gov/gene=col17a1 COMP: cartilage oligomeric matrix protein http://ghr.nlm.nih.gov/gene=comp COMT: catechol-O-methyltransferase http://ghr.nlm.nih.gov/gene=comt CP: ceruloplasmin (ferroxidase) http://ghr.nlm.nih.gov/gene=cp CPOX: coproporphyrinogen oxidase http://ghr.nlm.nih.gov/gene=cpox CPS1: carbamoyl-phosphate synthetase 1, mitochondrial http://ghr.nlm.nih.gov/gene=cps1 CPT1A: carnitine palmitoyltransferase 1A (liver) http://ghr.nlm.nih.gov/gene=cpt1a CPT2: carnitine palmitoyltransferase 2 http://ghr.nlm.nih.gov/gene=cpt2 CREBBP: CREB binding protein http://ghr.nlm.nih.gov/gene=crebbp CRTAP: cartilage associated protein http://ghr.nlm.nih.gov/gene=crtap CSTB: cystatin B (stefin B) http://ghr.nlm.nih.gov/gene=cstb CTNND2: catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) http://ghr.nlm.nih.gov/gene=ctnnd2 CTNS: cystinosis, nephropathic http://ghr.nlm.nih.gov/gene=ctns CTSA: cathepsin A http://ghr.nlm.nih.gov/gene=ctsa CUL7: cullin 7 http://ghr.nlm.nih.gov/gene=cul7 CYP1B1: cytochrome P450, family 1, subfamily B, polypeptide 1 http://ghr.nlm.nih.gov/gene=cyp1b1 CYP21A2: cytochrome P450, family 21, subfamily A, polypeptide 2 http://ghr.nlm.nih.gov/gene=cyp21a2 CYP27A1: cytochrome P450, family 27, subfamily A, polypeptide 1 http://ghr.nlm.nih.gov/gene=cyp27a1 D2HGDH: D-2-hydroxyglutarate dehydrogenase http://ghr.nlm.nih.gov/gene=d2hgdh DBH: dopamine beta-hydroxylase (dopamine beta-monooxygenase) http://ghr.nlm.nih.gov/gene=dbh DBT: dihydrolipoamide branched chain transacylase E2 http://ghr.nlm.nih.gov/gene=dbt DCN: decorin http://ghr.nlm.nih.gov/gene=dcn DCTN1: dynactin 1 (p150, glued homolog, Drosophila) http://ghr.nlm.nih.gov/gene=dctn1 DCX: doublecortin http://ghr.nlm.nih.gov/gene=dcx DDC: dopa decarboxylase (aromatic L-amino acid decarboxylase) http://ghr.nlm.nih.gov/gene=ddc DFNA5: deafness, autosomal dominant 5 http://ghr.nlm.nih.gov/gene=dfna5 DFNB31: deafness, autosomal recessive 31 http://ghr.nlm.nih.gov/gene=dfnb31 DFNB59: deafness, autosomal recessive 59 http://ghr.nlm.nih.gov/gene=dfnb59 DHCR7: 7-dehydrocholesterol reductase http://ghr.nlm.nih.gov/gene=dhcr7 DHH: desert hedgehog homolog (Drosophila) http://ghr.nlm.nih.gov/gene=dhh DIRAS3: DIRAS family, GTP-binding RAS-like 3 http://ghr.nlm.nih.gov/gene=diras3 DLD: dihydrolipoamide dehydrogenase http://ghr.nlm.nih.gov/gene=dld DMD: dystrophin http://ghr.nlm.nih.gov/gene=dmd DMPK: dystrophia myotonica-protein kinase http://ghr.nlm.nih.gov/gene=dmpk DNAJC19: DnaJ (Hsp40) homolog, subfamily C, member 19 http://ghr.nlm.nih.gov/gene=dnajc19 DNM2: dynamin 2 http://ghr.nlm.nih.gov/gene=dnm2 DRD3: dopamine receptor D3 http://ghr.nlm.nih.gov/gene=drd3 DSPP: dentin sialophosphoprotein http://ghr.nlm.nih.gov/gene=dspp DUOX2: dual oxidase 2 http://ghr.nlm.nih.gov/gene=duox2 EDA: ectodysplasin A http://ghr.nlm.nih.gov/gene=eda EDAR: ectodysplasin A receptor http://ghr.nlm.nih.gov/gene=edar EDARADD: EDAR-associated death domain http://ghr.nlm.nih.gov/gene=edaradd EDN3: endothelin 3 http://ghr.nlm.nih.gov/gene=edn3 EDNRB: endothelin receptor type B http://ghr.nlm.nih.gov/gene=ednrb EFEMP2: EGF-containing fibulin-like extracellular matrix protein 2 http://ghr.nlm.nih.gov/gene=efemp2 EGR2: early growth response 2 (Krox-20 homolog, Drosophila) http://ghr.nlm.nih.gov/gene=egr2 EIF2B1: eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa http://ghr.nlm.nih.gov/gene=eif2b1 EIF2B2: eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa http://ghr.nlm.nih.gov/gene=eif2b2 EIF2B3: eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa http://ghr.nlm.nih.gov/gene=eif2b3 EIF2B4: eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa http://ghr.nlm.nih.gov/gene=eif2b4 EIF2B5: eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa http://ghr.nlm.nih.gov/gene=eif2b5 ELN: elastin http://ghr.nlm.nih.gov/gene=eln EMD: emerin http://ghr.nlm.nih.gov/gene=emd ENAM: enamelin http://ghr.nlm.nih.gov/gene=enam ENG: endoglin http://ghr.nlm.nih.gov/gene=eng EP300: E1A binding protein p300 http://ghr.nlm.nih.gov/gene=ep300 EPM2A: epilepsy, progressive myoclonus type 2A, Lafora disease (laforin) http://ghr.nlm.nih.gov/gene=epm2a ERAP1: endoplasmic reticulum aminopeptidase 1 http://ghr.nlm.nih.gov/gene=erap1 ERBB2: v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian) http://ghr.nlm.nih.gov/gene=erbb2 ERCC6: excision repair cross-complementing rodent repair deficiency, complementation group 6 http://ghr.nlm.nih.gov/gene=ercc6 ERCC8: excision repair cross-complementing rodent repair deficiency, complementation group 8 http://ghr.nlm.nih.gov/gene=ercc8 ESCO2: establishment of cohesion 1 homolog 2 (S. cerevisiae) http://ghr.nlm.nih.gov/gene=esco2 ESPN: espin http://ghr.nlm.nih.gov/gene=espn ETFA: electron-transfer-flavoprotein, alpha polypeptide http://ghr.nlm.nih.gov/gene=etfa ETFB: electron-transfer-flavoprotein, beta polypeptide http://ghr.nlm.nih.gov/gene=etfb ETFDH: electron-transferring-flavoprotein dehydrogenase http://ghr.nlm.nih.gov/gene=etfdh ETHE1: ethylmalonic encephalopathy 1 http://ghr.nlm.nih.gov/gene=ethe1 EVC: Ellis van Creveld syndrome http://ghr.nlm.nih.gov/gene=evc EVC2: Ellis van Creveld syndrome 2 http://ghr.nlm.nih.gov/gene=evc2 EXT1: exostoses (multiple) 1 http://ghr.nlm.nih.gov/gene=ext1 EXT2: exostoses (multiple) 2 http://ghr.nlm.nih.gov/gene=ext2 EYA1: eyes absent homolog 1 (Drosophila) http://ghr.nlm.nih.gov/gene=eya1 EYA4: eyes absent homolog 4 (Drosophila) http://ghr.nlm.nih.gov/gene=eya4 F2: coagulation factor II (thrombin) http://ghr.nlm.nih.gov/gene=f2 F5: coagulation factor V (proaccelerin, labile factor) http://ghr.nlm.nih.gov/gene=f5 F8: coagulation factor VIII, procoagulant component http://ghr.nlm.nih.gov/gene=f8 F9: coagulation factor IX http://ghr.nlm.nih.gov/gene=f9 F12: coagulation factor XII (Hageman factor) http://ghr.nlm.nih.gov/gene=f12 FAH: fumarylacetoacetate hydrolase (fumarylacetoacetase) http://ghr.nlm.nih.gov/gene=fah FAM126A: family with sequence similarity 126, member A http://ghr.nlm.nih.gov/gene=fam126a FBLN5: fibulin 5 http://ghr.nlm.nih.gov/gene=fbln5 FBN1: fibrillin 1 http://ghr.nlm.nih.gov/gene=fbn1 FBN2: fibrillin 2 http://ghr.nlm.nih.gov/gene=fbn2 FECH: ferrochelatase (protoporphyria) http://ghr.nlm.nih.gov/gene=fech FGD1: FYVE, RhoGEF and PH domain containing 1 http://ghr.nlm.nih.gov/gene=fgd1 FGFR1: fibroblast growth factor receptor 1 http://ghr.nlm.nih.gov/gene=fgfr1 FGFR2: fibroblast growth factor receptor 2 http://ghr.nlm.nih.gov/gene=fgfr2 FGFR3: fibroblast growth factor receptor 3 http://ghr.nlm.nih.gov/gene=fgfr3 FGFR4: fibroblast growth factor receptor 4 http://ghr.nlm.nih.gov/gene=fgfr4 FGFRL1: fibroblast growth factor receptor-like 1 http://ghr.nlm.nih.gov/gene=fgfrl1 FH: fumarate hydratase http://ghr.nlm.nih.gov/gene=fh FKTN: fukutin http://ghr.nlm.nih.gov/gene=fktn FLCN: folliculin http://ghr.nlm.nih.gov/gene=flcn FLNA: filamin A, alpha http://ghr.nlm.nih.gov/gene=flna FLT4: fms-related tyrosine kinase 4 http://ghr.nlm.nih.gov/gene=flt4 FMO3: flavin containing monooxygenase 3 http://ghr.nlm.nih.gov/gene=fmo3 FMR1: fragile X mental retardation 1 http://ghr.nlm.nih.gov/gene=fmr1 FOXC2: forkhead box C2 (MFH-1, mesenchyme forkhead 1) http://ghr.nlm.nih.gov/gene=foxc2 FOXL2: forkhead box L2 http://ghr.nlm.nih.gov/gene=foxl2 FOXP3: forkhead box P3 http://ghr.nlm.nih.gov/gene=foxp3 FRMD7: FERM domain containing 7 http://ghr.nlm.nih.gov/gene=frmd7 FTCD: formiminotransferase cyclodeaminase http://ghr.nlm.nih.gov/gene=ftcd FTL: ferritin, light polypeptide http://ghr.nlm.nih.gov/gene=ftl FUCA1: fucosidase, alpha-L- 1, tissue http://ghr.nlm.nih.gov/gene=fuca1 FXN: frataxin http://ghr.nlm.nih.gov/gene=fxn FZD4: frizzled homolog 4 (Drosophila) http://ghr.nlm.nih.gov/gene=fzd4 G6PD: glucose-6-phosphate dehydrogenase http://ghr.nlm.nih.gov/gene=g6pd GAA: glucosidase, alpha; acid http://ghr.nlm.nih.gov/gene=gaa GALC: galactosylceramidase http://ghr.nlm.nih.gov/gene=galc GALE: UDP-galactose-4-epimerase http://ghr.nlm.nih.gov/gene=gale GALK1: galactokinase 1 http://ghr.nlm.nih.gov/gene=galk1 GALT: galactose-1-phosphate uridylyltransferase http://ghr.nlm.nih.gov/gene=galt GAMT: guanidinoacetate N-methyltransferase http://ghr.nlm.nih.gov/gene=gamt GAN: gigaxonin http://ghr.nlm.nih.gov/gene=gan GARS: glycyl-tRNA synthetase http://ghr.nlm.nih.gov/gene=gars GBA: glucosidase, beta; acid (includes glucosylceramidase) http://ghr.nlm.nih.gov/gene=gba GCDH: glutaryl-Coenzyme A dehydrogenase http://ghr.nlm.nih.gov/gene=gcdh GCH1: GTP cyclohydrolase 1 http://ghr.nlm.nih.gov/gene=gch1 GDAP1: ganglioside-induced differentiation-associated protein 1 http://ghr.nlm.nih.gov/gene=gdap1 GFAP: glial fibrillary acidic protein http://ghr.nlm.nih.gov/gene=gfap GJA1: gap junction protein, alpha 1, 43kDa http://ghr.nlm.nih.gov/gene=gja1 GJB1: gap junction protein, beta 1, 32kDa http://ghr.nlm.nih.gov/gene=gjb1 GJB2: gap junction protein, beta 2, 26kDa http://ghr.nlm.nih.gov/gene=gjb2 GJB3: gap junction protein, beta 3, 31kDa http://ghr.nlm.nih.gov/gene=gjb3 GJB6: gap junction protein, beta 6, 30kDa http://ghr.nlm.nih.gov/gene=gjb6 GLA: galactosidase, alpha http://ghr.nlm.nih.gov/gene=gla GLDC: glycine dehydrogenase (decarboxylating) http://ghr.nlm.nih.gov/gene=gldc GLI3: GLI family zinc finger 3 http://ghr.nlm.nih.gov/gene=gli3 GM2A: GM2 ganglioside activator http://ghr.nlm.nih.gov/gene=gm2a GNAS: GNAS complex locus http://ghr.nlm.nih.gov/gene=gnas GNAT2: guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2 http://ghr.nlm.nih.gov/gene=gnat2 GNE: glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase http://ghr.nlm.nih.gov/gene=gne GNMT: glycine N-methyltransferase http://ghr.nlm.nih.gov/gene=gnmt GNPTAB: N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits http://ghr.nlm.nih.gov/gene=gnptab GNPTG: N-acetylglucosamine-1-phosphate transferase, gamma subunit http://ghr.nlm.nih.gov/gene=gnptg GPC3: glypican 3 http://ghr.nlm.nih.gov/gene=gpc3 GPR56: G protein-coupled receptor 56 http://ghr.nlm.nih.gov/gene=gpr56 GPR98: G protein-coupled receptor 98 http://ghr.nlm.nih.gov/gene=gpr98 GPR143: G protein-coupled receptor 143 http://ghr.nlm.nih.gov/gene=gpr143 GRHPR: glyoxylate reductase/hydroxypyruvate reductase http://ghr.nlm.nih.gov/gene=grhpr GSS: glutathione synthetase http://ghr.nlm.nih.gov/gene=gss GTF2I: general transcription factor IIi http://ghr.nlm.nih.gov/gene=gtf2i GTF2IRD1: GTF2I repeat domain containing 1 http://ghr.nlm.nih.gov/gene=gtf2ird1 H19: H19, imprinted maternally expressed transcript (non-protein coding) http://ghr.nlm.nih.gov/gene=h19 HADH: hydroxyacyl-Coenzyme A dehydrogenase http://ghr.nlm.nih.gov/gene=hadh HADHA: hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), alpha subunit http://ghr.nlm.nih.gov/gene=hadha HADHB: hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), beta subunit http://ghr.nlm.nih.gov/gene=hadhb HAL: histidine ammonia-lyase http://ghr.nlm.nih.gov/gene=hal HAMP: hepcidin antimicrobial peptide http://ghr.nlm.nih.gov/gene=hamp HBA1: hemoglobin, alpha 1 http://ghr.nlm.nih.gov/gene=hba1 HBA2: hemoglobin, alpha 2 http://ghr.nlm.nih.gov/gene=hba2 HBB: hemoglobin, beta http://ghr.nlm.nih.gov/gene=hbb HCCS: holocytochrome c synthase (cytochrome c heme-lyase) http://ghr.nlm.nih.gov/gene=hccs HEXA: hexosaminidase A (alpha polypeptide) http://ghr.nlm.nih.gov/gene=hexa HEXB: hexosaminidase B (beta polypeptide) http://ghr.nlm.nih.gov/gene=hexb HFE: hemochromatosis http://ghr.nlm.nih.gov/gene=hfe HFE2: hemochromatosis type 2 (juvenile) http://ghr.nlm.nih.gov/gene=hfe2 HGD: homogentisate 1,2-dioxygenase (homogentisate oxidase) http://ghr.nlm.nih.gov/gene=hgd HLA-B: major histocompatibility complex, class I, B http://ghr.nlm.nih.gov/gene=hlab HLCS: holocarboxylase synthetase (biotin-(proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)) ligase) http://ghr.nlm.nih.gov/gene=hlcs HMBS: hydroxymethylbilane synthase http://ghr.nlm.nih.gov/gene=hmbs HMGCL: 3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase http://ghr.nlm.nih.gov/gene=hmgcl HOXA13: homeobox A13 http://ghr.nlm.nih.gov/gene=hoxa13 HPD: 4-hydroxyphenylpyruvate dioxygenase http://ghr.nlm.nih.gov/gene=hpd HPRT1: hypoxanthine phosphoribosyltransferase 1 http://ghr.nlm.nih.gov/gene=hprt1 HRAS: v-Ha-ras Harvey rat sarcoma viral oncogene homolog http://ghr.nlm.nih.gov/gene=hras HS1BP3: HCLS1 binding protein 3 http://ghr.nlm.nih.gov/gene=hs1bp3 HSD17B3: hydroxysteroid (17-beta) dehydrogenase 3 http://ghr.nlm.nih.gov/gene=hsd17b3 HSD17B10: hydroxysteroid (17-beta) dehydrogenase 10 http://ghr.nlm.nih.gov/gene=hsd17b10 HSPB1: heat shock 27kDa protein 1 http://ghr.nlm.nih.gov/gene=hspb1 HTT: huntingtin http://ghr.nlm.nih.gov/gene=htt IDS: iduronate 2-sulfatase http://ghr.nlm.nih.gov/gene=ids IDUA: iduronidase, alpha-L- http://ghr.nlm.nih.gov/gene=idua IFT80: intraflagellar transport 80 homolog (Chlamydomonas) http://ghr.nlm.nih.gov/gene=ift80 IGF2: insulin-like growth factor 2 (somatomedin A) http://ghr.nlm.nih.gov/gene=igf2 IKBKAP: inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein http://ghr.nlm.nih.gov/gene=ikbkap IKBKG: inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma http://ghr.nlm.nih.gov/gene=ikbkg IL1A: interleukin 1, alpha http://ghr.nlm.nih.gov/gene=il1a IL2RG: interleukin 2 receptor, gamma (severe combined immunodeficiency) http://ghr.nlm.nih.gov/gene=il2rg IL23R: interleukin 23 receptor http://ghr.nlm.nih.gov/gene=il23r IRF6: interferon regulatory factor 6 http://ghr.nlm.nih.gov/gene=irf6 IRGM: immunity-related GTPase family, M http://ghr.nlm.nih.gov/gene=irgm ITGA6: integrin, alpha 6 http://ghr.nlm.nih.gov/gene=itga6 ITGB4: integrin, beta 4 http://ghr.nlm.nih.gov/gene=itgb4 IVD: isovaleryl Coenzyme A dehydrogenase http://ghr.nlm.nih.gov/gene=ivd JAG1: jagged 1 (Alagille syndrome) http://ghr.nlm.nih.gov/gene=jag1 JPH3: junctophilin 3 http://ghr.nlm.nih.gov/gene=jph3 KAL1: Kallmann syndrome 1 sequence http://ghr.nlm.nih.gov/gene=kal1 KCNA1: potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia) http://ghr.nlm.nih.gov/gene=kcna1 KCNE1: potassium voltage-gated channel, Isk-related family, member 1 http://ghr.nlm.nih.gov/gene=kcne1 KCNE2: potassium voltage-gated channel, Isk-related family, member 2 http://ghr.nlm.nih.gov/gene=kcne2 KCNH2: potassium voltage-gated channel, subfamily H (eag-related), member 2 http://ghr.nlm.nih.gov/gene=kcnh2 KCNJ2: potassium inwardly-rectifying channel, subfamily J, member 2 http://ghr.nlm.nih.gov/gene=kcnj2 KCNQ1: potassium voltage-gated channel, KQT-like subfamily, member 1 http://ghr.nlm.nih.gov/gene=kcnq1 KCNQ1OT1: KCNQ1 overlapping transcript 1 (non-protein coding) http://ghr.nlm.nih.gov/gene=kcnq1ot1 KCNQ4: potassium voltage-gated channel, KQT-like subfamily, member 4 http://ghr.nlm.nih.gov/gene=kcnq4 KIAA0196: KIAA0196 http://ghr.nlm.nih.gov/gene=kiaa0196 KIF1B: kinesin family member 1B http://ghr.nlm.nih.gov/gene=kif1b KIF21A: kinesin family member 21A http://ghr.nlm.nih.gov/gene=kif21a KRAS: v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog http://ghr.nlm.nih.gov/gene=kras KRIT1: KRIT1, ankyrin repeat containing http://ghr.nlm.nih.gov/gene=krit1 KRT5: keratin 5 http://ghr.nlm.nih.gov/gene=krt5 KRT6A: keratin 6A http://ghr.nlm.nih.gov/gene=krt6a KRT6B: keratin 6B http://ghr.nlm.nih.gov/gene=krt6b KRT14: keratin 14 http://ghr.nlm.nih.gov/gene=krt14 KRT16: keratin 16 http://ghr.nlm.nih.gov/gene=krt16 KRT17: keratin 17 http://ghr.nlm.nih.gov/gene=krt17 L1CAM: L1 cell adhesion molecule http://ghr.nlm.nih.gov/gene=l1cam L2HGDH: L-2-hydroxyglutarate dehydrogenase http://ghr.nlm.nih.gov/gene=l2hgdh LAMA3: laminin, alpha 3 http://ghr.nlm.nih.gov/gene=lama3 LAMB3: laminin, beta 3 http://ghr.nlm.nih.gov/gene=lamb3 LAMC2: laminin, gamma 2 http://ghr.nlm.nih.gov/gene=lamc2 LDLR: low density lipoprotein receptor http://ghr.nlm.nih.gov/gene=ldlr LDLRAP1: low density lipoprotein receptor adaptor protein 1 http://ghr.nlm.nih.gov/gene=ldlrap1 LEPRE1: leucine proline-enriched proteoglycan (leprecan) 1 http://ghr.nlm.nih.gov/gene=lepre1 LETM1: leucine zipper-EF-hand containing transmembrane protein 1 http://ghr.nlm.nih.gov/gene=letm1 LGI1: leucine-rich, glioma inactivated 1 http://ghr.nlm.nih.gov/gene=lgi1 LHFPL5: lipoma HMGIC fusion partner-like 5 http://ghr.nlm.nih.gov/gene=lhfpl5 LIMK1: LIM domain kinase 1 http://ghr.nlm.nih.gov/gene=limk1 LIPA: lipase A, lysosomal acid, cholesterol esterase http://ghr.nlm.nih.gov/gene=lipa LITAF: lipopolysaccharide-induced TNF factor http://ghr.nlm.nih.gov/gene=litaf LMNA: lamin A/C http://ghr.nlm.nih.gov/gene=lmna LMX1B: LIM homeobox transcription factor 1, beta http://ghr.nlm.nih.gov/gene=lmx1b LPIN2: lipin 2 http://ghr.nlm.nih.gov/gene=lpin2 LPL: lipoprotein lipase http://ghr.nlm.nih.gov/gene=lpl LRP2: low density lipoprotein-related protein 2 http://ghr.nlm.nih.gov/gene=lrp2 LRP5: low density lipoprotein receptor-related protein 5 http://ghr.nlm.nih.gov/gene=lrp5 LRRK2: leucine-rich repeat kinase 2 http://ghr.nlm.nih.gov/gene=lrrk2 LYST: lysosomal trafficking regulator http://ghr.nlm.nih.gov/gene=lyst MAN2B1: mannosidase, alpha, class 2B, member 1 http://ghr.nlm.nih.gov/gene=man2b1 MANBA: mannosidase, beta A, lysosomal http://ghr.nlm.nih.gov/gene=manba MAP2K1: mitogen-activated protein kinase kinase 1 http://ghr.nlm.nih.gov/gene=map2k1 MAP2K2: mitogen-activated protein kinase kinase 2 http://ghr.nlm.nih.gov/gene=map2k2 MAT1A: methionine adenosyltransferase I, alpha http://ghr.nlm.nih.gov/gene=mat1a MATN3: matrilin 3 http://ghr.nlm.nih.gov/gene=matn3 MC1R: melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor) http://ghr.nlm.nih.gov/gene=mc1r MCCC1: methylcrotonoyl-Coenzyme A carboxylase 1 (alpha) http://ghr.nlm.nih.gov/gene=mccc1 MCCC2: methylcrotonoyl-Coenzyme A carboxylase 2 (beta) http://ghr.nlm.nih.gov/gene=mccc2 MCOLN1: mucolipin 1 http://ghr.nlm.nih.gov/gene=mcoln1 MECP2: methyl CpG binding protein 2 (Rett syndrome) http://ghr.nlm.nih.gov/gene=mecp2 MED12: mediator complex subunit 12 http://ghr.nlm.nih.gov/gene=med12 MEFV: Mediterranean fever http://ghr.nlm.nih.gov/gene=mefv MEN1: multiple endocrine neoplasia I http://ghr.nlm.nih.gov/gene=men1 MFN2: mitofusin 2 http://ghr.nlm.nih.gov/gene=mfn2 MID1: midline 1 (Opitz/BBB syndrome) http://ghr.nlm.nih.gov/gene=mid1 MITF: microphthalmia-associated transcription factor http://ghr.nlm.nih.gov/gene=mitf MKKS: McKusick-Kaufman syndrome http://ghr.nlm.nih.gov/gene=mkks MLC1: megalencephalic leukoencephalopathy with subcortical cysts 1 http://ghr.nlm.nih.gov/gene=mlc1 MLH1: mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli) http://ghr.nlm.nih.gov/gene=mlh1 MLYCD: malonyl-CoA decarboxylase http://ghr.nlm.nih.gov/gene=mlycd MMAA: methylmalonic aciduria (cobalamin deficiency) cblA type http://ghr.nlm.nih.gov/gene=mmaa MMAB: methylmalonic aciduria (cobalamin deficiency) cblB type http://ghr.nlm.nih.gov/gene=mmab MMP20: matrix metallopeptidase 20 http://ghr.nlm.nih.gov/gene=mmp20 MPZ: myelin protein zero http://ghr.nlm.nih.gov/gene=mpz MSH2: mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli) http://ghr.nlm.nih.gov/gene=msh2 MSH6: mutS homolog 6 (E. coli) http://ghr.nlm.nih.gov/gene=msh6 MSTN: myostatin http://ghr.nlm.nih.gov/gene=mstn MSX1: msh homeobox 1 http://ghr.nlm.nih.gov/gene=msx1 MSX2: msh homeobox 2 http://ghr.nlm.nih.gov/gene=msx2 MT-ATP6: mitochondrially encoded ATP synthase 6 http://ghr.nlm.nih.gov/gene=mtatp6 MT-ND1: mitochondrially encoded NADH dehydrogenase 1 http://ghr.nlm.nih.gov/gene=mtnd1 MT-ND4: mitochondrially encoded NADH dehydrogenase 4 http://ghr.nlm.nih.gov/gene=mtnd4 MT-ND4L: mitochondrially encoded NADH dehydrogenase 4L http://ghr.nlm.nih.gov/gene=mtnd4l MT-ND5: mitochondrially encoded NADH dehydrogenase 5 http://ghr.nlm.nih.gov/gene=mtnd5 MT-ND6: mitochondrially encoded NADH dehydrogenase 6 http://ghr.nlm.nih.gov/gene=mtnd6 MT-RNR1: mitochondrially encoded 12S RNA http://ghr.nlm.nih.gov/gene=mtrnr1 MT-TH: mitochondrially encoded tRNA histidine http://ghr.nlm.nih.gov/gene=mtth MT-TL1: mitochondrially encoded tRNA leucine 1 (UUA/G) http://ghr.nlm.nih.gov/gene=mttl1 MT-TS1: mitochondrially encoded tRNA serine 1 (UCN) http://ghr.nlm.nih.gov/gene=mtts1 MT-TV: mitochondrially encoded tRNA valine http://ghr.nlm.nih.gov/gene=mttv MTHFR: 5,10-methylenetetrahydrofolate reductase (NADPH) http://ghr.nlm.nih.gov/gene=mthfr MTM1: myotubularin 1 http://ghr.nlm.nih.gov/gene=mtm1 MTMR2: myotubularin related protein 2 http://ghr.nlm.nih.gov/gene=mtmr2 MTR: 5-methyltetrahydrofolate-homocysteine methyltransferase http://ghr.nlm.nih.gov/gene=mtr MTRR: 5-methyltetrahydrofolate-homocysteine methyltransferase reductase http://ghr.nlm.nih.gov/gene=mtrr MTTP: microsomal triglyceride transfer protein http://ghr.nlm.nih.gov/gene=mttp MUT: methylmalonyl Coenzyme A mutase http://ghr.nlm.nih.gov/gene=mut MUTYH: mutY homolog (E. coli) http://ghr.nlm.nih.gov/gene=mutyh MYCN: v-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian) http://ghr.nlm.nih.gov/gene=mycn MYH7: myosin, heavy chain 7, cardiac muscle, beta http://ghr.nlm.nih.gov/gene=myh7 MYO1A: myosin IA http://ghr.nlm.nih.gov/gene=myo1a MYO6: myosin VI http://ghr.nlm.nih.gov/gene=myo6 MYO7A: myosin VIIA http://ghr.nlm.nih.gov/gene=myo7a MYO15A: myosin XVA http://ghr.nlm.nih.gov/gene=myo15a MYOC: myocilin, trabecular meshwork inducible glucocorticoid response http://ghr.nlm.nih.gov/gene=myoc NAGS: N-acetylglutamate synthase http://ghr.nlm.nih.gov/gene=nags NBN: nibrin http://ghr.nlm.nih.gov/gene=nbn NCF1: neutrophil cytosolic factor 1 http://ghr.nlm.nih.gov/gene=ncf1 NDP: Norrie disease (pseudoglioma) http://ghr.nlm.nih.gov/gene=ndp NDRG1: N-myc downstream regulated 1 http://ghr.nlm.nih.gov/gene=ndrg1 NEFH: neurofilament, heavy polypeptide http://ghr.nlm.nih.gov/gene=nefh NEFL: neurofilament, light polypeptide http://ghr.nlm.nih.gov/gene=nefl NEFM: neurofilament, medium polypeptide http://ghr.nlm.nih.gov/gene=nefm NF1: neurofibromin 1 http://ghr.nlm.nih.gov/gene=nf1 NF2: neurofibromin 2 (merlin) http://ghr.nlm.nih.gov/gene=nf2 NHLRC1: NHL repeat containing 1 http://ghr.nlm.nih.gov/gene=nhlrc1 NIPBL: Nipped-B homolog (Drosophila) http://ghr.nlm.nih.gov/gene=nipbl NLRP3: NLR family, pyrin domain containing 3 http://ghr.nlm.nih.gov/gene=nlrp3 NLRP12: NLR family, pyrin domain containing 12 http://ghr.nlm.nih.gov/gene=nlrp12 NOD2: nucleotide-binding oligomerization domain containing 2 http://ghr.nlm.nih.gov/gene=nod2 NOTCH2: Notch homolog 2 (Drosophila) http://ghr.nlm.nih.gov/gene=notch2 NOTCH3: Notch homolog 3 (Drosophila) http://ghr.nlm.nih.gov/gene=notch3 NPC1: Niemann-Pick disease, type C1 http://ghr.nlm.nih.gov/gene=npc1 NPC2: Niemann-Pick disease, type C2 http://ghr.nlm.nih.gov/gene=npc2 NR0B1: nuclear receptor subfamily 0, group B, member 1 http://ghr.nlm.nih.gov/gene=nr0b1 NR4A2: nuclear receptor subfamily 4, group A, member 2 http://ghr.nlm.nih.gov/gene=nr4a2 NR5A1: nuclear receptor subfamily 5, group A, member 1 http://ghr.nlm.nih.gov/gene=nr5a1 NSD1: nuclear receptor binding SET domain protein 1 http://ghr.nlm.nih.gov/gene=nsd1 NSDHL: NAD(P) dependent steroid dehydrogenase-like http://ghr.nlm.nih.gov/gene=nsdhl NYX: nyctalopin http://ghr.nlm.nih.gov/gene=nyx OAT: ornithine aminotransferase (gyrate atrophy) http://ghr.nlm.nih.gov/gene=oat OCA2: oculocutaneous albinism II http://ghr.nlm.nih.gov/gene=oca2 OCRL: oculocerebrorenal syndrome of Lowe http://ghr.nlm.nih.gov/gene=ocrl OPA1: optic atrophy 1 (autosomal dominant) http://ghr.nlm.nih.gov/gene=opa1 OPA3: optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia) http://ghr.nlm.nih.gov/gene=opa3 OPN1LW: opsin 1 (cone pigments), long-wave-sensitive http://ghr.nlm.nih.gov/gene=opn1lw OPN1MW: opsin 1 (cone pigments), medium-wave-sensitive http://ghr.nlm.nih.gov/gene=opn1mw OPN1SW: opsin 1 (cone pigments), short-wave-sensitive http://ghr.nlm.nih.gov/gene=opn1sw OTC: ornithine carbamoyltransferase http://ghr.nlm.nih.gov/gene=otc OTOF: otoferlin http://ghr.nlm.nih.gov/gene=otof PABPN1: poly(A) binding protein, nuclear 1 http://ghr.nlm.nih.gov/gene=pabpn1 PAFAH1B1: platelet-activating factor acetylhydrolase, isoform Ib, subunit 1 (45kDa) http://ghr.nlm.nih.gov/gene=pafah1b1 PAH: phenylalanine hydroxylase http://ghr.nlm.nih.gov/gene=pah PALB2: partner and localizer of BRCA2 http://ghr.nlm.nih.gov/gene=palb2 PANK2: pantothenate kinase 2 http://ghr.nlm.nih.gov/gene=pank2 PARK2: Parkinson disease (autosomal recessive, juvenile) 2, parkin http://ghr.nlm.nih.gov/gene=park2 PARK7: Parkinson disease (autosomal recessive, early onset) 7 http://ghr.nlm.nih.gov/gene=park7 PAX2: paired box 2 http://ghr.nlm.nih.gov/gene=pax2 PAX3: paired box 3 http://ghr.nlm.nih.gov/gene=pax3 PAX6: paired box 6 http://ghr.nlm.nih.gov/gene=pax6 PAX8: paired box 8 http://ghr.nlm.nih.gov/gene=pax8 PC: pyruvate carboxylase http://ghr.nlm.nih.gov/gene=pc PCBD1: pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha http://ghr.nlm.nih.gov/gene=pcbd1 PCCA: propionyl Coenzyme A carboxylase, alpha polypeptide http://ghr.nlm.nih.gov/gene=pcca PCCB: propionyl Coenzyme A carboxylase, beta polypeptide http://ghr.nlm.nih.gov/gene=pccb PCDH15: protocadherin 15 http://ghr.nlm.nih.gov/gene=pcdh15 PCSK9: proprotein convertase subtilisin/kexin type 9 http://ghr.nlm.nih.gov/gene=pcsk9 PDCD10: programmed cell death 10 http://ghr.nlm.nih.gov/gene=pdcd10 PHOX2A: paired-like homeobox 2a http://ghr.nlm.nih.gov/gene=phox2a PHOX2B: paired-like homeobox 2b http://ghr.nlm.nih.gov/gene=phox2b PIGA: phosphatidylinositol glycan anchor biosynthesis, class A http://ghr.nlm.nih.gov/gene=piga PINK1: PTEN induced putative kinase 1 http://ghr.nlm.nih.gov/gene=pink1 PKD1: polycystic kidney disease 1 (autosomal dominant) http://ghr.nlm.nih.gov/gene=pkd1 PKD2: polycystic kidney disease 2 (autosomal dominant) http://ghr.nlm.nih.gov/gene=pkd2 PKHD1: polycystic kidney and hepatic disease 1 (autosomal recessive) http://ghr.nlm.nih.gov/gene=pkhd1 PLA2G6: phospholipase A2, group VI (cytosolic, calcium-independent) http://ghr.nlm.nih.gov/gene=pla2g6 PLEC1: plectin 1, intermediate filament binding protein 500kDa http://ghr.nlm.nih.gov/gene=plec1 PLOD1: procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase 1 http://ghr.nlm.nih.gov/gene=plod1 PLP1: proteolipid protein 1 http://ghr.nlm.nih.gov/gene=plp1 PMP22: peripheral myelin protein 22 http://ghr.nlm.nih.gov/gene=pmp22 PMS2: PMS2 postmeiotic segregation increased 2 (S. cerevisiae) http://ghr.nlm.nih.gov/gene=pms2 PNKD: paroxysmal nonkinesigenic dyskinesia http://ghr.nlm.nih.gov/gene=pnkd PNPLA2: patatin-like phospholipase domain containing 2 http://ghr.nlm.nih.gov/gene=pnpla2 PNPO: pyridoxamine 5'-phosphate oxidase http://ghr.nlm.nih.gov/gene=pnpo PORCN: porcupine homolog (Drosophila) http://ghr.nlm.nih.gov/gene=porcn POU3F4: POU class 3 homeobox 4 http://ghr.nlm.nih.gov/gene=pou3f4 PPOX: protoporphyrinogen oxidase http://ghr.nlm.nih.gov/gene=ppox PPP1R12A: protein phosphatase 1, regulatory (inhibitor) subunit 12A http://ghr.nlm.nih.gov/gene=ppp1r12a PRKAG2: protein kinase, AMP-activated, gamma 2 non-catalytic subunit http://ghr.nlm.nih.gov/gene=prkag2 PRNP: prion protein http://ghr.nlm.nih.gov/gene=prnp PROC: protein C (inactivator of coagulation factors Va and VIIIa) http://ghr.nlm.nih.gov/gene=proc PRODH: proline dehydrogenase (oxidase) 1 http://ghr.nlm.nih.gov/gene=prodh PROK2: prokineticin 2 http://ghr.nlm.nih.gov/gene=prok2 PROKR2: prokineticin receptor 2 http://ghr.nlm.nih.gov/gene=prokr2 PROS1: protein S (alpha) http://ghr.nlm.nih.gov/gene=pros1 PRPH: peripherin http://ghr.nlm.nih.gov/gene=prph PRPH2: peripherin 2 (retinal degeneration, slow) http://ghr.nlm.nih.gov/gene=prph2 PRX: periaxin http://ghr.nlm.nih.gov/gene=prx PSAP: prosaposin http://ghr.nlm.nih.gov/gene=psap PSEN1: presenilin 1 http://ghr.nlm.nih.gov/gene=psen1 PSEN2: presenilin 2 (Alzheimer disease 4) http://ghr.nlm.nih.gov/gene=psen2 PTCH1: patched homolog 1 (Drosophila) http://ghr.nlm.nih.gov/gene=ptch1 PTEN: phosphatase and tensin homolog http://ghr.nlm.nih.gov/gene=pten PTPN11: protein tyrosine phosphatase, non-receptor type 11 http://ghr.nlm.nih.gov/gene=ptpn11 PTS: 6-pyruvoyltetrahydropterin synthase http://ghr.nlm.nih.gov/gene=pts QDPR: quinoid dihydropteridine reductase http://ghr.nlm.nih.gov/gene=qdpr RAB7A: RAB7A, member RAS oncogene family http://ghr.nlm.nih.gov/gene=rab7a RAD50: RAD50 homolog (S. cerevisiae) http://ghr.nlm.nih.gov/gene=rad50 RAD51: RAD51 homolog (RecA homolog, E. coli) (S. cerevisiae) http://ghr.nlm.nih.gov/gene=rad51 RAF1: v-raf-1 murine leukemia viral oncogene homolog 1 http://ghr.nlm.nih.gov/gene=raf1 RAI1: retinoic acid induced 1 http://ghr.nlm.nih.gov/gene=rai1 RB1: retinoblastoma 1 http://ghr.nlm.nih.gov/gene=rb1 RECQL4: RecQ protein-like 4 http://ghr.nlm.nih.gov/gene=recql4 RET: ret proto-oncogene http://ghr.nlm.nih.gov/gene=ret RMRP: RNA component of mitochondrial RNA processing endoribonuclease http://ghr.nlm.nih.gov/gene=rmrp ROBO3: roundabout, axon guidance receptor, homolog 3 (Drosophila) http://ghr.nlm.nih.gov/gene=robo3 ROR2: receptor tyrosine kinase-like orphan receptor 2 http://ghr.nlm.nih.gov/gene=ror2 RPL5: ribosomal protein L5 http://ghr.nlm.nih.gov/gene=rpl5 RPL11: ribosomal protein L11 http://ghr.nlm.nih.gov/gene=rpl11 RPL35A: ribosomal protein L35a http://ghr.nlm.nih.gov/gene=rpl35a RPS6KA3: ribosomal protein S6 kinase, 90kDa, polypeptide 3 http://ghr.nlm.nih.gov/gene=rps6ka3 RPS7: ribosomal protein S7 http://ghr.nlm.nih.gov/gene=rps7 RPS17: ribosomal protein S17 http://ghr.nlm.nih.gov/gene=rps17 RPS19: ribosomal protein S19 http://ghr.nlm.nih.gov/gene=rps19 RPS24: ribosomal protein S24 http://ghr.nlm.nih.gov/gene=rps24 RS1: retinoschisin 1 http://ghr.nlm.nih.gov/gene=rs1 RUNX2: runt-related transcription factor 2 http://ghr.nlm.nih.gov/gene=runx2 RYR1: ryanodine receptor 1 (skeletal) http://ghr.nlm.nih.gov/gene=ryr1 SAA1: serum amyloid A1 http://ghr.nlm.nih.gov/gene=saa1 SACS: spastic ataxia of Charlevoix-Saguenay (sacsin) http://ghr.nlm.nih.gov/gene=sacs SALL1: sal-like 1 (Drosophila) http://ghr.nlm.nih.gov/gene=sall1 SALL4: sal-like 4 (Drosophila) http://ghr.nlm.nih.gov/gene=sall4 SAR1B: SAR1 homolog B (S. cerevisiae) http://ghr.nlm.nih.gov/gene=sar1b SBDS: Shwachman-Bodian-Diamond syndrome http://ghr.nlm.nih.gov/gene=sbds SBF2: SET binding factor 2 http://ghr.nlm.nih.gov/gene=sbf2 SCN1A: sodium channel, voltage-gated, type I, alpha subunit http://ghr.nlm.nih.gov/gene=scn1a SCN4A: sodium channel, voltage-gated, type IV, alpha subunit http://ghr.nlm.nih.gov/gene=scn4a SCN5A: sodium channel, voltage-gated, type V, alpha subunit http://ghr.nlm.nih.gov/gene=scn5a SCN9A: sodium channel, voltage-gated, type IX, alpha subunit http://ghr.nlm.nih.gov/gene=scn9a SEC23B: Sec23 homolog B (S. cerevisiae) http://ghr.nlm.nih.gov/gene=sec23b SEPN1: selenoprotein N, 1 http://ghr.nlm.nih.gov/gene=sepn1 SEPT9: septin 9 http://ghr.nlm.nih.gov/gene=sept9 SERPINA1: serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 http://ghr.nlm.nih.gov/gene=serpina1 SERPINA7: serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 http://ghr.nlm.nih.gov/gene=serpina7 SERPINC1: serpin peptidase inhibitor, clade C (antithrombin), member 1 http://ghr.nlm.nih.gov/gene=serpinc1 SERPING1: serpin peptidase inhibitor, clade G (C1 inhibitor), member 1 http://ghr.nlm.nih.gov/gene=serping1 SERPINI1: serpin peptidase inhibitor, clade I (neuroserpin), member 1 http://ghr.nlm.nih.gov/gene=serpini1 SETX: senataxin http://ghr.nlm.nih.gov/gene=setx SGCE: sarcoglycan, epsilon http://ghr.nlm.nih.gov/gene=sgce SH3BP2: SH3-domain binding protein 2 http://ghr.nlm.nih.gov/gene=sh3bp2 SH3TC2: SH3 domain and tetratricopeptide repeats 2 http://ghr.nlm.nih.gov/gene=sh3tc2 SHANK3: SH3 and multiple ankyrin repeat domains 3 http://ghr.nlm.nih.gov/gene=shank3 SHOX: short stature homeobox http://ghr.nlm.nih.gov/gene=shox SI: sucrase-isomaltase (alpha-glucosidase) http://ghr.nlm.nih.gov/gene=si SIL1: SIL1 homolog, endoplasmic reticulum chaperone (S. cerevisiae) http://ghr.nlm.nih.gov/gene=sil1 SIX1: SIX homeobox 1 http://ghr.nlm.nih.gov/gene=six1 SIX5: SIX homeobox 5 http://ghr.nlm.nih.gov/gene=six5 SLC1A3: solute carrier family 1 (glial high affinity glutamate transporter), member 3 http://ghr.nlm.nih.gov/gene=slc1a3 SLC2A1: solute carrier family 2 (facilitated glucose transporter), member 1 http://ghr.nlm.nih.gov/gene=slc2a1 SLC3A1: solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1 http://ghr.nlm.nih.gov/gene=slc3a1 SLC5A1: solute carrier family 5 (sodium/glucose cotransporter), member 1 http://ghr.nlm.nih.gov/gene=slc5a1 SLC5A5: solute carrier family 5 (sodium iodide symporter), member 5 http://ghr.nlm.nih.gov/gene=slc5a5 SLC7A7: solute carrier family 7 (cationic amino acid transporter, y+ system), member 7 http://ghr.nlm.nih.gov/gene=slc7a7 SLC7A9: solute carrier family 7 (cationic amino acid transporter, y+ system), member 9 http://ghr.nlm.nih.gov/gene=slc7a9 SLC12A6: solute carrier family 12 (potassium/chloride transporters), member 6 http://ghr.nlm.nih.gov/gene=slc12a6 SLC16A2: solute carrier family 16, member 2 (monocarboxylic acid transporter 8) http://ghr.nlm.nih.gov/gene=slc16a2 SLC17A5: solute carrier family 17 (anion/sugar transporter), member 5 http://ghr.nlm.nih.gov/gene=slc17a5 SLC19A2: solute carrier family 19 (thiamine transporter), member 2 http://ghr.nlm.nih.gov/gene=slc19a2 SLC22A5: solute carrier family 22 (organic cation/carnitine transporter), member 5 http://ghr.nlm.nih.gov/gene=slc22a5 SLC25A13: solute carrier family 25, member 13 (citrin) http://ghr.nlm.nih.gov/gene=slc25a13 SLC25A15: solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15 http://ghr.nlm.nih.gov/gene=slc25a15 SLC25A19: solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19 http://ghr.nlm.nih.gov/gene=slc25a19 SLC25A20: solute carrier family 25 (carnitine/acylcarnitine translocase), member 20 http://ghr.nlm.nih.gov/gene=slc25a20 SLC26A2: solute carrier family 26 (sulfate transporter), member 2 http://ghr.nlm.nih.gov/gene=slc26a2 SLC26A4: solute carrier family 26, member 4 http://ghr.nlm.nih.gov/gene=slc26a4 SLC40A1: solute carrier family 40 (iron-regulated transporter), member 1 http://ghr.nlm.nih.gov/gene=slc40a1 SLC45A2: solute carrier family 45, member 2 http://ghr.nlm.nih.gov/gene=slc45a2 SLC46A1: solute carrier family 46 (folate transporter), member 1 http://ghr.nlm.nih.gov/gene=slc46a1 SLITRK1: SLIT and NTRK-like family, member 1 http://ghr.nlm.nih.gov/gene=slitrk1 SMAD4: SMAD family member 4 http://ghr.nlm.nih.gov/gene=smad4 SMARCAL1: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 http://ghr.nlm.nih.gov/gene=smarcal1 SMC1A: structural maintenance of chromosomes 1A http://ghr.nlm.nih.gov/gene=smc1a SMC3: structural maintenance of chromosomes 3 http://ghr.nlm.nih.gov/gene=smc3 SMN1: survival of motor neuron 1, telomeric http://ghr.nlm.nih.gov/gene=smn1 SMN2: survival of motor neuron 2, centromeric http://ghr.nlm.nih.gov/gene=smn2 SMPD1: sphingomyelin phosphodiesterase 1, acid lysosomal http://ghr.nlm.nih.gov/gene=smpd1 SNAI2: snail homolog 2 (Drosophila) http://ghr.nlm.nih.gov/gene=snai2 SNCA: synuclein, alpha (non A4 component of amyloid precursor) http://ghr.nlm.nih.gov/gene=snca SNCAIP: synuclein, alpha interacting protein http://ghr.nlm.nih.gov/gene=sncaip SOD1: superoxide dismutase 1, soluble http://ghr.nlm.nih.gov/gene=sod1 SOS1: son of sevenless homolog 1 (Drosophila) http://ghr.nlm.nih.gov/gene=sos1 SOST: sclerosteosis http://ghr.nlm.nih.gov/gene=sost SOX2: SRY (sex determining region Y)-box 2 http://ghr.nlm.nih.gov/gene=sox2 SOX9: SRY (sex determining region Y)-box 9 http://ghr.nlm.nih.gov/gene=sox9 SOX10: SRY (sex determining region Y)-box 10 http://ghr.nlm.nih.gov/gene=sox10 SP110: SP110 nuclear body protein http://ghr.nlm.nih.gov/gene=sp110 SPAST: spastin http://ghr.nlm.nih.gov/gene=spast SPG7: spastic paraplegia 7 (pure and complicated autosomal recessive) http://ghr.nlm.nih.gov/gene=spg7 SPG11: spastic paraplegia 11 (autosomal recessive) http://ghr.nlm.nih.gov/gene=spg11 SPG20: spastic paraplegia 20 (Troyer syndrome) http://ghr.nlm.nih.gov/gene=spg20 SRD5A2: steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2) http://ghr.nlm.nih.gov/gene=srd5a2 SRY: sex determining region Y http://ghr.nlm.nih.gov/gene=sry STAT3: signal transducer and activator of transcription 3 (acute-phase response factor) http://ghr.nlm.nih.gov/gene=stat3 STK11: serine/threonine kinase 11 http://ghr.nlm.nih.gov/gene=stk11 STRC: stereocilin http://ghr.nlm.nih.gov/gene=strc SUCLA2: succinate-CoA ligase, ADP-forming, beta subunit http://ghr.nlm.nih.gov/gene=sucla2 SUCLG1: succinate-CoA ligase, alpha subunit http://ghr.nlm.nih.gov/gene=suclg1 TAF1: TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa http://ghr.nlm.nih.gov/gene=taf1 TAT: tyrosine aminotransferase http://ghr.nlm.nih.gov/gene=tat TAZ: tafazzin http://ghr.nlm.nih.gov/gene=taz TBP: TATA box binding protein http://ghr.nlm.nih.gov/gene=tbp TBX1: T-box 1 http://ghr.nlm.nih.gov/gene=tbx1 TBX5: T-box 5 http://ghr.nlm.nih.gov/gene=tbx5 TCOF1: Treacher Collins-Franceschetti syndrome 1 http://ghr.nlm.nih.gov/gene=tcof1 TECTA: tectorin alpha http://ghr.nlm.nih.gov/gene=tecta TEK: TEK tyrosine kinase, endothelial http://ghr.nlm.nih.gov/gene=tek TFAP2B: transcription factor AP-2 beta (activating enhancer binding protein 2 beta) http://ghr.nlm.nih.gov/gene=tfap2b TFR2: transferrin receptor 2 http://ghr.nlm.nih.gov/gene=tfr2 TG: thyroglobulin http://ghr.nlm.nih.gov/gene=tg TGFB1: transforming growth factor, beta 1 http://ghr.nlm.nih.gov/gene=tgfb1 TGFBR2: transforming growth factor, beta receptor II (70/80kDa) http://ghr.nlm.nih.gov/gene=tgfbr2 TH: tyrosine hydroxylase http://ghr.nlm.nih.gov/gene=th TIMM8A: translocase of inner mitochondrial membrane 8 homolog A (yeast) http://ghr.nlm.nih.gov/gene=timm8a TMC1: transmembrane channel-like 1 http://ghr.nlm.nih.gov/gene=tmc1 TMIE: transmembrane inner ear http://ghr.nlm.nih.gov/gene=tmie TMPRSS3: transmembrane protease, serine 3 http://ghr.nlm.nih.gov/gene=tmprss3 TNXB: tenascin XB http://ghr.nlm.nih.gov/gene=tnxb TOR1A: torsin family 1, member A (torsin A) http://ghr.nlm.nih.gov/gene=tor1a TP53: tumor protein p53 http://ghr.nlm.nih.gov/gene=tp53 TPO: thyroid peroxidase http://ghr.nlm.nih.gov/gene=tpo TRAPPC2: trafficking protein particle complex 2 http://ghr.nlm.nih.gov/gene=trappc2 TREM2: triggering receptor expressed on myeloid cells 2 http://ghr.nlm.nih.gov/gene=trem2 TRIOBP: TRIO and F-actin binding protein http://ghr.nlm.nih.gov/gene=triobp TRPS1: trichorhinophalangeal syndrome I http://ghr.nlm.nih.gov/gene=trps1 TSC1: tuberous sclerosis 1 http://ghr.nlm.nih.gov/gene=tsc1 TSC2: tuberous sclerosis 2 http://ghr.nlm.nih.gov/gene=tsc2 TSHB: thyroid stimulating hormone, beta http://ghr.nlm.nih.gov/gene=tshb TSHR: thyroid stimulating hormone receptor http://ghr.nlm.nih.gov/gene=tshr TTN: titin http://ghr.nlm.nih.gov/gene=ttn TTPA: tocopherol (alpha) transfer protein http://ghr.nlm.nih.gov/gene=ttpa TTR: transthyretin http://ghr.nlm.nih.gov/gene=ttr TWIST1: twist homolog 1 (Drosophila) http://ghr.nlm.nih.gov/gene=twist1 TYMP: thymidine phosphorylase http://ghr.nlm.nih.gov/gene=tymp TYR: tyrosinase (oculocutaneous albinism IA) http://ghr.nlm.nih.gov/gene=tyr TYROBP: TYRO protein tyrosine kinase binding protein http://ghr.nlm.nih.gov/gene=tyrobp TYRP1: tyrosinase-related protein 1 http://ghr.nlm.nih.gov/gene=tyrp1 UBE3A: ubiquitin protein ligase E3A http://ghr.nlm.nih.gov/gene=ube3a UCHL1: ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase) http://ghr.nlm.nih.gov/gene=uchl1 UROD: uroporphyrinogen decarboxylase http://ghr.nlm.nih.gov/gene=urod UROS: uroporphyrinogen III synthase http://ghr.nlm.nih.gov/gene=uros USH1C: Usher syndrome 1C (autosomal recessive, severe) http://ghr.nlm.nih.gov/gene=ush1c USH1G: Usher syndrome 1G (autosomal recessive) http://ghr.nlm.nih.gov/gene=ush1g USH2A: Usher syndrome 2A (autosomal recessive, mild) http://ghr.nlm.nih.gov/gene=ush2a USP9Y: ubiquitin specific peptidase 9, Y-linked http://ghr.nlm.nih.gov/gene=usp9y VAPB: VAMP (vesicle-associated membrane protein)-associated protein B and C http://ghr.nlm.nih.gov/gene=vapb VCP: valosin-containing protein http://ghr.nlm.nih.gov/gene=vcp VHL: von Hippel-Lindau tumor suppressor http://ghr.nlm.nih.gov/gene=vhl VLDLR: very low density lipoprotein receptor http://ghr.nlm.nih.gov/gene=vldlr VPS13A: vacuolar protein sorting 13 homolog A (S. cerevisiae) http://ghr.nlm.nih.gov/gene=vps13a VPS13B: vacuolar protein sorting 13 homolog B (yeast) http://ghr.nlm.nih.gov/gene=vps13b VWF: von Willebrand factor http://ghr.nlm.nih.gov/gene=vwf WAS: Wiskott-Aldrich syndrome (eczema-thrombocytopenia) http://ghr.nlm.nih.gov/gene=was WFS1: Wolfram syndrome 1 (wolframin) http://ghr.nlm.nih.gov/gene=wfs1 WHSC1: Wolf-Hirschhorn syndrome candidate 1 http://ghr.nlm.nih.gov/gene=whsc1 WNT3: wingless-type MMTV integration site family, member 3 http://ghr.nlm.nih.gov/gene=wnt3 WNT4: wingless-type MMTV integration site family, member 4 http://ghr.nlm.nih.gov/gene=wnt4 WRN: Werner syndrome, RecQ helicase-like http://ghr.nlm.nih.gov/gene=wrn WT1: Wilms tumor 1 http://ghr.nlm.nih.gov/gene=wt1 XK: X-linked Kx blood group (McLeod syndrome) http://ghr.nlm.nih.gov/gene=xk YARS: tyrosyl-tRNA synthetase http://ghr.nlm.nih.gov/gene=yars YWHAE: tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide http://ghr.nlm.nih.gov/gene=ywhae ZAP70: zeta-chain (TCR) associated protein kinase 70kDa http://ghr.nlm.nih.gov/gene=zap70 ZEB2: zinc finger E-box binding homeobox 2 http://ghr.nlm.nih.gov/gene=zeb2 Chromosomes http://ghr.nlm.nih.gov/chromosomes Chromosome 1 http://ghr.nlm.nih.gov/chromosome=1 Chromosome 10 http://ghr.nlm.nih.gov/chromosome=10 Chromosome 11 http://ghr.nlm.nih.gov/chromosome=11 Chromosome 12 http://ghr.nlm.nih.gov/chromosome=12 Chromosome 13 http://ghr.nlm.nih.gov/chromosome=13 Chromosome 14 http://ghr.nlm.nih.gov/chromosome=14 Chromosome 15 http://ghr.nlm.nih.gov/chromosome=15 Chromosome 16 http://ghr.nlm.nih.gov/chromosome=16 Chromosome 17 http://ghr.nlm.nih.gov/chromosome=17 Chromosome 18 http://ghr.nlm.nih.gov/chromosome=18 Chromosome 19 http://ghr.nlm.nih.gov/chromosome=19 Chromosome 2 http://ghr.nlm.nih.gov/chromosome=2 Chromosome 20 http://ghr.nlm.nih.gov/chromosome=20 Chromosome 21 http://ghr.nlm.nih.gov/chromosome=21 Chromosome 22 http://ghr.nlm.nih.gov/chromosome=22 Chromosome 3 http://ghr.nlm.nih.gov/chromosome=3 Chromosome 4 http://ghr.nlm.nih.gov/chromosome=4 Chromosome 5 http://ghr.nlm.nih.gov/chromosome=5 Chromosome 6 http://ghr.nlm.nih.gov/chromosome=6 Chromosome 7 http://ghr.nlm.nih.gov/chromosome=7 Chromosome 8 http://ghr.nlm.nih.gov/chromosome=8 Chromosome 9 http://ghr.nlm.nih.gov/chromosome=9 Mitochondrial DNA http://ghr.nlm.nih.gov/chromosome=MT X chromosome http://ghr.nlm.nih.gov/chromosome=X Y chromosome http://ghr.nlm.nih.gov/chromosome=Y Handbook http://ghr.nlm.nih.gov/handbook Cells and DNA http://ghr.nlm.nih.gov/handbook/basics What is a cell? http://ghr.nlm.nih.gov/handbook/basics/cell What is DNA? http://ghr.nlm.nih.gov/handbook/basics/dna What is mitochondrial DNA? http://ghr.nlm.nih.gov/handbook/basics/mtdna What is a gene? http://ghr.nlm.nih.gov/handbook/basics/gene What is a chromosome? http://ghr.nlm.nih.gov/handbook/basics/chromosome How many chromosomes do people have? http://ghr.nlm.nih.gov/handbook/basics/howmanychromosomes How Genes Work http://ghr.nlm.nih.gov/handbook/howgeneswork What are proteins and what do they do? http://ghr.nlm.nih.gov/handbook/howgeneswork/protein How do genes direct the production of proteins? http://ghr.nlm.nih.gov/handbook/howgeneswork/makingprotein Can genes be turned on and off in cells? http://ghr.nlm.nih.gov/handbook/howgeneswork/geneonoff How do cells divide? http://ghr.nlm.nih.gov/handbook/howgeneswork/cellsdivide How do genes control the growth and division of cells? http://ghr.nlm.nih.gov/handbook/howgeneswork/genesanddivision How do geneticists indicate the location of a gene? http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation What are gene families? http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies Mutations and Health http://ghr.nlm.nih.gov/handbook/mutationsanddisorders What is a gene mutation and how do mutations occur? http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/genemutation How can gene mutations affect health and development? http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/mutationscausedisease Do all gene mutations affect health and development? http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/neutralmutations What kinds of gene mutations are possible? http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/possiblemutations Can a change in the number of genes affect health and development? http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/copynumbervariation Can changes in the number of chromosomes affect health and development? http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/chromosomalconditions Can changes in the structure of chromosomes affect health and development? http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/structuralchanges Can changes in mitochondrial DNA affect health and development? http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/mitochondrialconditions What are complex or multifactorial disorders? http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/complexdisorders What information about a genetic condition can statistics provide? http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/statistics How are genetic conditions and genes named? http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming Inheriting Genetic Conditions http://ghr.nlm.nih.gov/handbook/inheritance What does it mean if a disorder seems to run in my family? http://ghr.nlm.nih.gov/handbook/inheritance/runsinfamily Why is it important to know my family medical history? http://ghr.nlm.nih.gov/handbook/inheritance/familyhistory What are the different ways in which a genetic condition can be inherited? http://ghr.nlm.nih.gov/handbook/inheritance/inheritancepatterns If a genetic disorder runs in my family, what are the chances that my children will have the condition? http://ghr.nlm.nih.gov/handbook/inheritance/riskassessment What are reduced penetrance and variable expressivity? http://ghr.nlm.nih.gov/handbook/inheritance/penetranceexpressivity What do geneticists mean by anticipation? http://ghr.nlm.nih.gov/handbook/inheritance/anticipation What are genomic imprinting and uniparental disomy? http://ghr.nlm.nih.gov/handbook/inheritance/updimprinting Are chromosomal disorders inherited? http://ghr.nlm.nih.gov/handbook/inheritance/chromosomalinheritance Why are some genetic conditions more common in particular ethnic groups? http://ghr.nlm.nih.gov/handbook/inheritance/ethnicgroup Genetic Consultation http://ghr.nlm.nih.gov/handbook/consult What is a genetic consultation? http://ghr.nlm.nih.gov/handbook/consult/consultation Why might someone have a genetic consultation? http://ghr.nlm.nih.gov/handbook/consult/reasons What happens during a genetic consultation? http://ghr.nlm.nih.gov/handbook/consult/expectations How can I find a genetics professional in my area? http://ghr.nlm.nih.gov/handbook/consult/findingprofessional Genetic Testing http://ghr.nlm.nih.gov/handbook/testing What is genetic testing? http://ghr.nlm.nih.gov/handbook/testing/genetictesting What are the types of genetic tests? http://ghr.nlm.nih.gov/handbook/testing/uses How is genetic testing done? http://ghr.nlm.nih.gov/handbook/testing/procedure What is direct-to-consumer genetic testing? http://ghr.nlm.nih.gov/handbook/testing/directtoconsumer How can consumers be sure a genetic test is valid and useful? http://ghr.nlm.nih.gov/handbook/testing/validtest What do the results of genetic tests mean? http://ghr.nlm.nih.gov/handbook/testing/interpretingresults What is the cost of genetic testing, and how long does it take to get the results? http://ghr.nlm.nih.gov/handbook/testing/costresults Will health insurance cover the costs of genetic testing? http://ghr.nlm.nih.gov/handbook/testing/insurancecoverage What are the benefits of genetic testing? http://ghr.nlm.nih.gov/handbook/testing/benefits What are the risks and limitations of genetic testing? http://ghr.nlm.nih.gov/handbook/testing/riskslimitations What is genetic discrimination? http://ghr.nlm.nih.gov/handbook/testing/discrimination How does genetic testing in a research setting differ from clinical genetic testing? http://ghr.nlm.nih.gov/handbook/testing/researchtesting Gene Therapy http://ghr.nlm.nih.gov/handbook/therapy What is gene therapy? http://ghr.nlm.nih.gov/handbook/therapy/genetherapy How does gene therapy work? http://ghr.nlm.nih.gov/handbook/therapy/procedures Is gene therapy safe? http://ghr.nlm.nih.gov/handbook/therapy/safety What are the ethical issues surrounding gene therapy? http://ghr.nlm.nih.gov/handbook/therapy/ethics Is gene therapy available to treat my disorder? http://ghr.nlm.nih.gov/handbook/therapy/availability The Human Genome Project http://ghr.nlm.nih.gov/handbook/hgp What is a genome? http://ghr.nlm.nih.gov/handbook/hgp/genome What was the Human Genome Project and why has it been important? http://ghr.nlm.nih.gov/handbook/hgp/description What were the goals of the Human Genome Project? http://ghr.nlm.nih.gov/handbook/hgp/goals What did the Human Genome Project accomplish? http://ghr.nlm.nih.gov/handbook/hgp/accomplishments What were some of the ethical, legal, and social implications addressed by the Human Genome Project? http://ghr.nlm.nih.gov/handbook/hgp/elsi Genomic Research http://ghr.nlm.nih.gov/handbook/genomicresearch What are the next steps in genomic research? http://ghr.nlm.nih.gov/handbook/genomicresearch/nextsteps What are single nucleotide polymorphisms (SNPs)? http://ghr.nlm.nih.gov/handbook/genomicresearch/snp What are genome-wide association studies? http://ghr.nlm.nih.gov/handbook/genomicresearch/gwastudies What is the International HapMap Project? http://ghr.nlm.nih.gov/handbook/genomicresearch/hapmap What is pharmacogenomics? http://ghr.nlm.nih.gov/handbook/genomicresearch/pharmacogenomics