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
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
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
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
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 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
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
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
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 I deficiency
http://ghr.nlm.nih.gov/condition=carnitinepalmitoyltransferaseideficiency
carnitine palmitoyltransferase II deficiency
http://ghr.nlm.nih.gov/condition=carnitinepalmitoyltransferaseiideficiency
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
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
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 hemidysplasia with ichthyosiform erythroderma and limb defects
http://ghr.nlm.nih.gov/condition=congenitalhemidysplasiawithichthyosiformerythrodermaandlimbdefects
congenital hypothyroidism
http://ghr.nlm.nih.gov/condition=congenitalhypothyroidism
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
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
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
22q11.2 deletion syndrome
http://ghr.nlm.nih.gov/condition=22q112deletionsyndrome
dentinogenesis imperfecta
http://ghr.nlm.nih.gov/condition=dentinogenesisimperfecta
diastrophic dysplasia
http://ghr.nlm.nih.gov/condition=diastrophicdysplasia
distal hereditary motor neuropathy, type V
http://ghr.nlm.nih.gov/condition=distalhereditarymotorneuropathytypev
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
Duchenne and Becker muscular dystrophy
http://ghr.nlm.nih.gov/condition=duchenneandbeckermusculardystrophy
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
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
episodic ataxia
http://ghr.nlm.nih.gov/condition=episodicataxia
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
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 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
fibrodysplasia ossificans progressiva
http://ghr.nlm.nih.gov/condition=fibrodysplasiaossificansprogressiva
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
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
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
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
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
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 neuropathy with liability to pressure palsies
http://ghr.nlm.nih.gov/condition=hereditaryneuropathywithliabilitytopressurepalsies
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
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
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
hypophosphatasia
http://ghr.nlm.nih.gov/condition=hypophosphatasia
immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome
http://ghr.nlm.nih.gov/condition=immunedysregulationpolyendocrinopathyenteropathyxlinkedsyndrome
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
isobutyryl-coenzyme A dehydrogenase deficiency
http://ghr.nlm.nih.gov/condition=isobutyrylcoenzymeadehydrogenasedeficiency
isovaleric acidemia
http://ghr.nlm.nih.gov/condition=isovalericacidemia
Jackson-Weiss syndrome
http://ghr.nlm.nih.gov/condition=jacksonweisssyndrome
Jervell and Lange-Nielsen syndrome
http://ghr.nlm.nih.gov/condition=jervellandlangenielsensyndrome
Job syndrome
http://ghr.nlm.nih.gov/condition=jobsyndrome
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
Laing distal myopathy
http://ghr.nlm.nih.gov/condition=laingdistalmyopathy
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
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
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
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
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
Muenke syndrome
http://ghr.nlm.nih.gov/condition=muenkesyndrome
multiminicore disease
http://ghr.nlm.nih.gov/condition=multiminicoredisease
multiple endocrine neoplasia
http://ghr.nlm.nih.gov/condition=multipleendocrineneoplasia
multiple epiphyseal dysplasia
http://ghr.nlm.nih.gov/condition=multipleepiphysealdysplasia
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
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
oculofaciocardiodental syndrome
http://ghr.nlm.nih.gov/condition=oculofaciocardiodentalsyndrome
Opitz G/BBB syndrome
http://ghr.nlm.nih.gov/condition=opitzgbbbsyndrome
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
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
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
propionic acidemia
http://ghr.nlm.nih.gov/condition=propionicacidemia
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
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
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
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
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
Sotos syndrome
http://ghr.nlm.nih.gov/condition=sotossyndrome
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
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
succinic semialdehyde dehydrogenase deficiency
http://ghr.nlm.nih.gov/condition=succinicsemialdehydedehydrogenasedeficiency
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
thrombotic thrombocytopenic purpura
http://ghr.nlm.nih.gov/condition=thromboticthrombocytopenicpurpura
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
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
http://ghr.nlm.nih.gov/condition=tuberoussclerosis
Turner syndrome
http://ghr.nlm.nih.gov/condition=turnersyndrome
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
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
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
Wilson disease
http://ghr.nlm.nih.gov/condition=wilsondisease
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 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 spondyloepiphyseal dysplasia tarda
http://ghr.nlm.nih.gov/condition=xlinkedspondyloepiphysealdysplasiatarda
47,XYY syndrome
http://ghr.nlm.nih.gov/condition=47xyysyndrome
Genes
http://ghr.nlm.nih.gov/BrowseGenes
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
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
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 (acetoacetyl Coenzyme A thiolase)
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
ADAMTS13: ADAM metallopeptidase with thrombospondin type 1 motif, 13
http://ghr.nlm.nih.gov/gene=adamts13
ADAMTS2: ADAM metallopeptidase with thrombospondin type 1 motif, 2
http://ghr.nlm.nih.gov/gene=adamts2
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: S-adenosylhomocysteine hydrolase
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 (succinate-semialdehyde dehydrogenase)
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: aristaless-like 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
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 (peptidase nexin-II, Alzheimer disease)
http://ghr.nlm.nih.gov/gene=app
APTX: aprataxin
http://ghr.nlm.nih.gov/gene=aptx
AR: androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease)
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
ATM: ataxia telangiectasia mutated
http://ghr.nlm.nih.gov/gene=atm
ATP1A2: ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide
http://ghr.nlm.nih.gov/gene=atp1a2
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
ATP7A: ATPase, Cu++ transporting, alpha polypeptide (Menkes syndrome)
http://ghr.nlm.nih.gov/gene=atp7a
ATP7B: ATPase, Cu++ transporting, beta polypeptide
http://ghr.nlm.nih.gov/gene=atp7b
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 (maple syrup urine disease)
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
http://ghr.nlm.nih.gov/gene=blm
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
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
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
CLCN1: chloride channel 1, skeletal muscle (Thomsen disease, autosomal dominant)
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
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
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
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 (Alport syndrome)
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 (epidermolysis bullosa, dystrophic, dominant and recessive)
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
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 II
http://ghr.nlm.nih.gov/gene=cpt2
CREBBP: CREB binding protein (Rubinstein-Taybi syndrome)
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
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
DCTN1: dynactin 1 (p150, glued homolog, Drosophila)
http://ghr.nlm.nih.gov/gene=dctn1
DCX: doublecortex; lissencephaly, X-linked (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
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 (muscular dystrophy, Duchenne and Becker types)
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
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 (supravalvular aortic stenosis, Williams-Beuren syndrome)
http://ghr.nlm.nih.gov/gene=eln
EMD: emerin (Emery-Dreifuss muscular dystrophy)
http://ghr.nlm.nih.gov/gene=emd
ENAM: enamelin
http://ghr.nlm.nih.gov/gene=enam
ENG: endoglin (Osler-Rendu-Weber syndrome 1)
http://ghr.nlm.nih.gov/gene=eng
EP300: E1A binding protein p300
http://ghr.nlm.nih.gov/gene=ep300
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
ESPN: espin
http://ghr.nlm.nih.gov/gene=espn
ETFA: electron-transfer-flavoprotein, alpha polypeptide (glutaric aciduria II)
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 (limbin)
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 (hemophilia A)
http://ghr.nlm.nih.gov/gene=f8
F9: coagulation factor IX (plasma thromboplastic component, Christmas disease, hemophilia B)
http://ghr.nlm.nih.gov/gene=f9
FAH: fumarylacetoacetate hydrolase (fumarylacetoacetase)
http://ghr.nlm.nih.gov/gene=fah
FBN1: fibrillin 1
http://ghr.nlm.nih.gov/gene=fbn1
FBN2: fibrillin 2 (congenital contractural arachnodactyly)
http://ghr.nlm.nih.gov/gene=fbn2
FECH: ferrochelatase (protoporphyria)
http://ghr.nlm.nih.gov/gene=fech
FGFR1: fibroblast growth factor receptor 1 (fms-related tyrosine kinase 2, Pfeiffer syndrome)
http://ghr.nlm.nih.gov/gene=fgfr1
FGFR2: fibroblast growth factor receptor 2 (bacteria-expressed kinase, keratinocyte growth factor receptor, craniofacial dysostosis 1, Crouzon syndrome, Pfeiffer syndrome, Jackson-Weiss syndrome)
http://ghr.nlm.nih.gov/gene=fgfr2
FGFR3: fibroblast growth factor receptor 3 (achondroplasia, thanatophoric dwarfism)
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 (actin binding protein 280)
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
FOXP3: forkhead box P3
http://ghr.nlm.nih.gov/gene=foxp3
FTL: ferritin, light polypeptide
http://ghr.nlm.nih.gov/gene=ftl
FXN: frataxin
http://ghr.nlm.nih.gov/gene=fxn
G6PD: glucose-6-phosphate dehydrogenase
http://ghr.nlm.nih.gov/gene=g6pd
GAA: glucosidase, alpha; acid (Pompe disease, glycogen storage disease type II)
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: giant axonal neuropathy (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 (dopa-responsive dystonia)
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
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-Kruppel family member GLI3 (Greig cephalopolysyndactyly syndrome)
http://ghr.nlm.nih.gov/gene=gli3
GM2A: GM2 ganglioside activator
http://ghr.nlm.nih.gov/gene=gm2a
GNAT2: guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2
http://ghr.nlm.nih.gov/gene=gnat2
GNMT: glycine N-methyltransferase
http://ghr.nlm.nih.gov/gene=gnmt
GPC3: glypican 3
http://ghr.nlm.nih.gov/gene=gpc3
GPR143: G protein-coupled receptor 143
http://ghr.nlm.nih.gov/gene=gpr143
GPR98: G protein-coupled receptor 98
http://ghr.nlm.nih.gov/gene=gpr98
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 II, i
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
HAMP: hepcidin antimicrobial peptide
http://ghr.nlm.nih.gov/gene=hamp
HBB: hemoglobin, beta
http://ghr.nlm.nih.gov/gene=hbb
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 (hydroxymethylglutaricaciduria)
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 (Lesch-Nyhan syndrome)
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
HSPB1: heat shock 27kDa protein 1
http://ghr.nlm.nih.gov/gene=hspb1
HTT: huntingtin
http://ghr.nlm.nih.gov/gene=htt
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
IL23R: interleukin 23 receptor
http://ghr.nlm.nih.gov/gene=il23r
IL2RG: interleukin 2 receptor, gamma (severe combined immunodeficiency)
http://ghr.nlm.nih.gov/gene=il2rg
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
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
KIF1B: kinesin family member 1B
http://ghr.nlm.nih.gov/gene=kif1b
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
KRT14: keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner)
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
KRT5: keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types)
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
L1CAM: L1 cell adhesion molecule
http://ghr.nlm.nih.gov/gene=l1cam
L2HGDH: L-2-hydroxyglutarate dehydrogenase
http://ghr.nlm.nih.gov/gene=l2hgdh
LDLR: low density lipoprotein receptor (familial hypercholesterolemia)
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
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 (Wolman disease)
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
LPL: lipoprotein lipase
http://ghr.nlm.nih.gov/gene=lpl
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
MECP2: methyl CpG binding protein 2 (Rett syndrome)
http://ghr.nlm.nih.gov/gene=mecp2
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
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 (Charcot-Marie-Tooth neuropathy 1B)
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
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
MYH7: myosin, heavy chain 7, cardiac muscle, beta
http://ghr.nlm.nih.gov/gene=myh7
MYO15A: myosin XVA
http://ghr.nlm.nih.gov/gene=myo15a
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
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, (chronic granulomatous disease, autosomal 1)
http://ghr.nlm.nih.gov/gene=ncf1
NDP: Norrie disease (pseudoglioma)
http://ghr.nlm.nih.gov/gene=ndp
NDRG1: N-myc downstream regulated gene 1
http://ghr.nlm.nih.gov/gene=ndrg1
NEFH: neurofilament, heavy polypeptide 200kDa
http://ghr.nlm.nih.gov/gene=nefh
NEFL: neurofilament, light polypeptide 68kDa
http://ghr.nlm.nih.gov/gene=nefl
NEFM: neurofilament, medium polypeptide 150kDa
http://ghr.nlm.nih.gov/gene=nefm
NF1: neurofibromin 1 (neurofibromatosis, von Recklinghausen disease, Watson disease)
http://ghr.nlm.nih.gov/gene=nf1
NF2: neurofibromin 2 (merlin)
http://ghr.nlm.nih.gov/gene=nf2
NIPBL: Nipped-B homolog (Drosophila)
http://ghr.nlm.nih.gov/gene=nipbl
NLRP12: NLR family, pyrin domain containing 12
http://ghr.nlm.nih.gov/gene=nlrp12
NLRP3: NLR family, pyrin domain containing 3
http://ghr.nlm.nih.gov/gene=nlrp3
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
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
OCA2: oculocutaneous albinism II
http://ghr.nlm.nih.gov/gene=oca2
OCRL: oculocerebrorenal syndrome of Lowe
http://ghr.nlm.nih.gov/gene=ocrl
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
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 (Hallervorden-Spatz syndrome)
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
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
PHOX2B: paired-like homeobox 2b
http://ghr.nlm.nih.gov/gene=phox2b
PIGA: phosphatidylinositol glycan anchor biosynthesis, class A (paroxysmal nocturnal hemoglobinuria)
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 (Pelizaeus-Merzbacher disease, spastic paraplegia 2, uncomplicated)
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
PNPO: pyridoxamine 5'-phosphate oxidase
http://ghr.nlm.nih.gov/gene=pnpo
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 (p27-30) (Creutzfeldt-Jakob disease, Gerstmann-Strausler-Scheinker syndrome, fatal familial insomnia)
http://ghr.nlm.nih.gov/gene=prnp
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
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 (variant Gaucher disease and variant metachromatic leukodystrophy)
http://ghr.nlm.nih.gov/gene=psap
PSEN1: presenilin 1 (Alzheimer disease 3)
http://ghr.nlm.nih.gov/gene=psen1
PSEN2: presenilin 2 (A