CHRNA1|Myasthenic syndrome|congenital|fast-channelCHRNA1|Myasthenic syndrome|congenital|slow-channelCHRNE|Myasthenic syndrome|slow-channel congenital|autosomal recessiveCHRNE|Myasthenic syndrome|slow-channel congenitalCHRNE|Myasthenic syndrome|fast-channel congenitalCHRNE|Myasthenic syndrome|congenital|fast-channelCHRNE|Myasthenic syndrome|congenital|associated with acetylcholine receptor deficiencyCHRNG|Escobar syndromeCHRNG|Multiple pterygium syndrome|lethal typeACHE|YT blood group polymorphismASCL1|Haddad syndromeASCL1|Central hypoventilation syndrome|congenitalACTC1|Cardiomyopathy|familial hypertrophicACTC1|Cardiomyopathy|dilated|1RACTG1|Deafness|autosomal dominant 20FLNC|Filaminopathy|autosomal dominantACVR1|Fibrodysplasia ossificans progressivaAPRT|APRT deficiency due to type I alleleAPRT|APRT deficiency|Japanese typeAPRT|APRT deficiencyACTA1|Nemaline myopathy 3ACTA1|Myopathy|congenital|with fiber-type Disproportion 1ACTA1|Myopathy|actin|congenital|with coresACTA1|Myopathy|actin|congenital|with excess of thin myofilamentsACTB|Dystonia|juvenile-onsetADD1|Hypertension|salt-sensitive essential|susceptibility toADA|Severe combined immunodeficiency|autosomal recessive|T cell-negative|B cell-negative|NK cell-negative|due to adenosine deaminase deficiency|delayed onsetADA|Adenosine deaminase deficiency|partialADA|Severe combined immunodeficiency|autosomal recessive|T cell-negative|B cell-negative|NK cell-negative|due to adenosine deaminase deficiencyADA|Adenosine deaminase 2 allozymeADA|Severe combined immunodeficiency|autosomal recessive|T cell-negative|B cell-negative|NK cell-negative|due to adenosine deaminase deficiency|late-onsetADA|Severe combined immunodeficiency|autosomal recessive|T cell-negative|B cell-negative|NK cell-negative|due to adenosine deaminase deficiency|late onsetADA|Severe combined immunodeficiency|autosomal recessive|T cell-negative|B cell-negative|NK cell-negative|due to adenosine deaminase deficiency|B cell-negative|NK cell-negative|due to ada deficiencyAMPD1|AMPD deficiencyAMPD3|AMP deaminase deficiency of erythrocyteAK1|Adenylate kinase deficiency|hemolytic anemia due toADSL|Adenylosuccinase deficiencySLC25A4|Progressive external ophthalmoplegia with mitochondrial DNA deletions|autosomal dominant|2ALB|AnalbuminemiaALB|Albumin SondriaALB|Albumin Rugby ParkALB|Albumin Malmo 47ALB|Albumin Malmo 10ALB|Albumin Malmo 95ALB|Albumin Malmo 5ALB|Albumin DublinALB|Albumin CasebrookALB|Albumin Iowa City 1ALB|Albumin GhentALB|Albumin Vibo ValentiaALB|Albumin TorinoALB|Albumin Castel di SangroALB|Proalbumin MalmoALB|Albumin RedhillALB|Albumin Fukuoka 1ALB|Albumin Osaka 1ALB|Albumin NagoyaALB|Albumin BremenALB|Albumin Honolulu 2ALB|Albumin Porto Alegre 1ALB|Albumin Hiroshima 1ALB|Albumin Nagasaki 1ALB|Albumin Hiroshima 2ALB|Albumin TochigiALB|Albumin Osaka 2ALB|Albumin Fukuoka 2ALB|Proalbumin JaffnaALB|Albumin VanvesALB|Albumin RomaALB|Albumin New GuineaALB|Albumin VeneziaALB|Albumin GE/CTALB|Analbuminemia|American Indian typeALB|Albumin Honolulu 1ALB|Albumin Nagasaki 3ALB|Albumin Yanomama 2ALB|Albumin Nagasaki 2ALB|Albumin MakuALB|Albumin ParklandsALB|Albumin LambadiALB|Albumin Mexico 2ALB|Albumin MersinALB|Albumin AsolaALB|Albumin OrtonovoALB|Albumin Tradate 2ALB|Albumin BazzanoALB|Albumin CasertaALB|Albumin LarinoALB|Dysalbuminemic hyperthyroxinemiaALB|Analbuminemia RomaALB|Albumin Hawkes BayALB|Albumin HerbornADH1B|Alcohol dehydrogenase|beta subunit|IndianapolisADH1B|Alcohol dehydrogenase|beta subunit|'typical'/'atypical'ADH1C|Parkinson disease|susceptibility toADH1C|Alcohol dehydrogenase|gamma-2 typeADH1C|Alcohol dehydrogenase|gamma-1 typeALDOA|Aldolase deficiency of red cellsALDOA|Myopathy and hemolytic anemiaA2M|Alpha-2-macroglobulin polymorphismA2M|Alzheimer disease|susceptibility toAFP|Alpha-fetoprotein deficiencyAFP|Alpha-fetoprotein|hereditary persistence ofZFHX3|Prostate cancerNAGA|Schindler disease|type INAGA|Kanzaki diseaseNAGA|Schindler disease|type IIIADRA2C|Congestive heart failure|susceptibility toPSEN1|Dementia|frontotemporalPSEN1|Alzheimer disease|familial|3|with spastic paraparesis and apraxiaPSEN1|Alzheimer disease|familial|3|with unusual plaquesPSEN1|Pick disease of brainPSEN1|Alzheimer disease|familial|3|with spastic paraparesis and unusual plaquesPSEN1|Cardiomyopathy|dilated|1UPSEN1|Alzheimer disease|familial|3PSEN1|Alzheimer disease|familial|with spastic paraparesis and unusual plaquesSLC3A1|CystinuriaACY1|Aminoacylase 1 deficiencySAA1|Serum amyloid A variantAPP|Amyloidosis|cerebroarterial|hereditary|Italian typeAPP|Amyloidosis|cerebroarterial|hereditary|Iowa typeAPP|APP polymorphismAPP|Alzheimer disease|early-onset|with cerebral amyloid angiopathyAPP|Alzheimer disease|familial|1APP|Amyloidosis|with cerebral hemorrhage|hereditary|Dutch typeANG|Amyotrophic lateral sclerosis|susceptibility toAGT|Renal tubular dysgenesisAGT|Hypertension|essential|susceptibility toAGTR1|Stature as a quantitative traitAGTR1|Renal tubular dysgenesisAGTR1|Hypertension|essential|susceptibility toACE|Angiotensin I-converting enzyme|benign serum increaseACE|Angiotensin I-converting enzyme insertion/deletion polymorphismACE|Renal tubular dysgenesisANK2|Long GT syndrome 4ANK2|Sick sinus syndrome with bradycardiaCD19|Antibody deficiency due to defect in CD19CD44|Indian blood group system polymorphismCD59|CD59 deficiencySERPINA3|Antichymotrypsin Isehara 2SERPINA3|Antichymotrypsin Isehara 1SERPINA3|Antichymotrypsin signal peptide polymorphismSERPINA3|Antichymotrypsin Bochum 1SERPINA3|Antichymotrypsin Bonn 1SERPINC1|Antithrombin deficiencySERPINC1|Antithrombin 3 deficiencySERPINC1|At-III StockholmSERPINC1|At-III OsloSERPINC1|At-III deficiencySERPINC1|At-III BudapestSERPINC1|At-III Budapest 3SERPINC1|Thrombophilia due to antithrombin III deficiencySERPINC1|At-III Cambridge IISERPINC1|At-III Rouen ivSERPINC1|At-III BaselSERPINC1|At-III Rouen IIISERPINC1|At-III HamiltonSERPINC1|At-III AvranchesSERPINC1|At-III UtahSERPINC1|At-III Rouen IIISERPINC1|At-III BarcelonaSERPINC1|At-III Barcelona 2SERPINC1|At-III DublinSERPINC1|At-III DenverSERPINC1|At-III Rouen ISERPINC1|At-III Northwick ParkSERPINC1|At-III GlasgowSERPINC1|At-III ClichySERPINC1|At-III FontainbleauSERPINC1|At-III PescaraSERPINC1|At-III TrentoSERPINC1|At-III RomaSERPINC1|At-III ToyamaSERPINC1|At-III CharlevilleSERPINC1|At-III Padua 2SERPINC1|At-III ParisSERPINC1|At-III Rouen VISERPINC1|At-III NagasakiALDH7A1|Epilepsy|pyridoxine-dependentIFNGR1|Atypical mycobacterial infection|autosomal dominantIFNGR1|Bcg infection|generalized familial semibenignIFNGR1|Atypical mycobacterial infection|disseminatedIFNGR1|Atypical mycobacterial infection|disseminated familialIFNGR1|Helicobacter pylori infection|susceptibility toIFNGR1|Atypical mycobacterial infection|familial disseminatedIFNGR1|BCG infection|generalized familialIFNGR1|BCG infection|tuberculoid|antibiotic-responsiveAPOA2|Hypercholesterolemia|familial|modification ofAPOA2|Apolipoprotein A-II deficiency|familial|due to APOA-II (Hiroshima)APOA4|Apolipoprotein A-IV rare variant|APOA4*5APOA4|Apolipoprotein A-IV rare variant|APOA4*0APOA4|Apolipoprotein A-IV rare variant|APOA4*3APOA4|Apolipoprotein A-IV polymorphism|APOA4*1/APOA4*2APOC3|Apolipoprotein c-III deficiencyAPOC3|Apolipoprotein c-III|nonglycosylatedAPOB|Hypobetalipoproteinemia|familial|associated with APOB32APOB|APOB polymorphism in signal peptideAPOB|Hypobetalipoproteinemia|familial|associated with APOB87APOB|Hypobetalipoproteinemia|familial|associated with APOB31APOB|Hypobetalipoproteinemia|familial|associated with APOB40APOB|Hypobetalipoproteinemia|familial|associated with APOB90 or APOB89APOB|Hypobetalipoproteinemia|familial|associated with APOB46APOB|Hypobetalipoproteinemia|familial|associated with APOB39APOB|Hypobetalipoproteinemia|familialAPOB|Hypercholesterolemia due to ligand-defective apolipoprotein B100APOB|Hypobetalipoproteinemia|normotriglyceridemicAPOB|Hypercholesterolemia due to ligand-defective apolipoprotein BAPOE|APOE3(-)-FreiburgAPOE|Myocardial infarction|susceptibility toAPOE|Sea-blue histiocyte diseaseAPOE|Hyperlipoproteinemia|type III|due to APOE1-HarrisburgAPOE|Hyperlipoproteinemia|type III|associated with APOE deficiency|autosomal recessiveAPOE|Hyperlipoproteinemia|type III|associated with APOE2-FukuokaAPOE|Hyperlipoproteinemia|type III|due to APOE4-PhiladelphiaAPOE|Hypercholesterolemia and hypertriglyceridemia|type IIIAPOE|Hyperlipoproteinemia|type IIIAPOE|Dysbetalipoproteinemia due to APOE2APOE|APOE2-DunedinAPOE|Hyperlipoproteinemia|type III|associated with APOE7APOE|Hyperlipoproteinemia and atherosclerosis associated with APOE5APOE|Hyperlipoproteinemia|type III|associated with APOE deficiencyAPOE|Hyperlipoproteinemia|type III|due to APOE2-ChristchurchAPOE|APOE4 variantAPOE|Hyperlipoproteinemia|type III|associated with APOE LeidenAPOE|APOE2 isoformsAPOE|Hyperlipoproteinemia|type III|associated with APOE2APOE|Apolipoproteinemia E1APOE|APOE3 variantAPOE|Hyperlipoproteinemia|type III|autosomal dominantAPOE|Alzheimer disease 2APOE|APOE3 isoformAPOE|APOE2 variantAPOE|Hyperlipoproteinemia|type III|associated with APOE4APOE|APOE4(+)AQP1|Aquaporin 1 deficiencyAQP1|Colton blood group polymorphismAQP2|Diabetes insipidus|nephrogenic|autosomal recessiveAQP2|Diabetes insipidus|nephrogenic|autosomal dominantDDC|Aromatic l-amino acid decarboxylase deficiencyNAT1|NAT1*10 alleleNAT1|NAT1*17 alleleATP2A1|Brody myopathyATP2B2|Deafness|autosomal recessive 12|modifier ofATP2A2|Darier diseaseATP2A2|Darier disease|acral hemorrhagic typeATP2A2|Darier disease|segmentalATP2A2|Acrokeratosis verruciformisNPR2|Acromesomelic dysplasia|maroteaux typeSLC4A1|Spherocytosis|hereditary|due to band 3 TuscaloosaSLC4A1|Waldner blood group antigenSLC4A1|Renal tubular acidosis|autosomal dominantSLC4A1|Froese blood group antigenSLC4A1|Swann blood group antigenSLC4A1|Spherocytosis|hereditary|due to band 3 Cape TownSLC4A1|Spherocytosis|hereditary|due to band 3 Prague IIISLC4A1|Spherocytosis|hereditary|due to band 3 Prague iiSLC4A1|Ovalocytosis|southeast asianSLC4A1|Band 3 MemphisSLC4A1|Wright blood group AntigenSLC4A1|Diego blood group AntigenSLC4A1|Spherocytosis|hereditary|due to band 3 PragueSLC4A1|Hemolytic anemia due to band 3 MontefioreSLC4A1|Spherocytosis|hereditary|due to band 3 ChurSLC4A1|Spherocytosis|hereditary|due to band 3 NoirterreSLC4A1|Spherocytosis|hereditary|due to band 3 LyonSLC4A1|Spherocytosis|hereditary|due to band 3 GenasSLC4A1|Spherocytosis|hereditarySLC4A1|Renal tubular acidosis|distal|autosomal dominantSLC4A1|Spherocytosis|hereditary|due to band 3 FukuokaSLC4A1|Renal tubular acidosis|distal|autosomal recessiveSLC4A1|Spherocytosis|hereditary|due to band 3 TokyoBSG|Blood group-OKCD40|Immunodeficiency with hyper-IgM|type 3ADRB1|Beta-1-adrenergic receptor polymorphism|gain-of-functionADRB1|Resting heart rateADRB2|Beta-2-adrenoreceptor agonist|reduced response toADRB2|Asthma|nocturnal|susceptibility toADRB2|Obesity|susceptibility toADRB3|Obesity|susceptibility toB2M|Hypoproteinemia|hypercatabolicDARC|Duffy null|FY (A-B-)DARC|Duffy A/duffy B polymorphismGYPC|Glycophorin C|Yus variantGYPC|Glycophorin C|Gerbich variantGYPC|Glycophorin D|Webb variantGYPC|Glycophorin D|Duch variantKEL|KELL nullKEL|KELL k/k blood group polymorphismSLC14A1|JK-null variant|Finnish typeSLC14A1|Kidd blood polymorphism JK(A)/JK(B)SLC14A1|JK-null variantFUT3|Le(-) phenotypeBCAM|Auberger blood group polymorphism AU(A)/AU(B)BCAM|Lutheran blood group polymorphism LU(A)/LU(B)ICAM4|LW(A)/LW(B) blood group polymorphismRHD|RHD-negative polymorphismRHD|RHD category D-VIIRHD|RHD|weak D|type IRHCE|RH C/c polymorphismRHCE|Rh E/e polymorphismRHCE|RH-null disease|amorph typeBDNF|Central hypoventilation syndrome|congenitalBDNF|Memory impairment|susceptibility toBDNF|Bulimia nervosa|age of onset of weight loss inBRCA1|Ovarian cancer|sporadicBRCA1|Breast-ovarian cancerBRCA1|Breast cancerUCP1|UCP1 polymorphismCOL17A1|Epidermolysis bullosa|generalized atrophic benignCOL17A1|Epidermolysis bullosa|junctional|Localisata variantCDH3|Hypotrichosis|congenital|with juvenile macular dystrophyCDH3|Ectodermal dysplasia|ectrodactyly|and macular dystrophyCALCA|OsteoporosisCALCR|Osteoporosis|susceptibility toCACNA1C|Timothy syndromeCACNA1S|Thyrotoxic periodic paralysis|susceptibility toCACNA1S|Hypokalemic periodic paralysisCACNA1S|Malignant hyperthermia|susceptibility to|5CAPN3|Muscular dystrophy|limb-girdle|type 2ACAPN3|Muscular dystrophy|limb-girdle|type 2A|AmishCASQ2|Ventricular tachycardia|stress-induced polymorphic|autosomal recessiveCA4|Retinitis pigmentosa 17CA1|Carbonic anhydrase I|IcariaCA1|Carbonic anhydrase I|GuamCAT|Acatalasemia|Japanese typeTYRP1|Albinism|oculocutaneous|type IIITYRP1|Rufous oculocutaneous albinismCOMT|Schizophrenia|susceptibility toCOMT|Catechol-O-methyltransferase polymorphismCTNNB1|Pilomatricoma|somaticCTNNB1|Ovarian carcinoma|endometrioid type|somaticCTNNB1|Hepatocellular carcinoma|somaticCTNNB1|Colorectal cancerCTNNB1|Hepatoblastoma|somaticCTSD|Ceroid lipofuscinosis|neuronal|10CEBPA|Leukemia|acute myeloidCDKN1A|CIP1/WAF1 tumor-associated polymorphism 1CNBP|Myotonic dystrophyCP|AceruloplasminemiaHSPD1|Spastic paraplegia 13CLCN1|Myotonia congenita|autosomal recessiveCLCN1|Myotonia LeviorCLCN1|Myotonia congenita|autosomal dominantCCKAR|Cholecystokinin A receptor polymorphismCETP|Longevity|exceptionalCETP|Cholesterol ester transfer protein deficiencyCYP11A1|Lipoid congenital adrenal hyperplasiaCYP11A1|Adrenal insufficiency|congenitalCYP11A1|Adrenal insufficiency|congenital|with 46|XY sex reversalCHRNA2|Epilepsy|nocturnal frontal lobe|type 4CHRNA4|Nicotine addiction|protection againstCHRNA4|Epilepsy|nocturnal frontal lobe|type 1CHRNB2|Epilepsy|nocturnal frontal lobe|type 3VCAN|Wagner syndrome 1CNTF|Ciliary neurotrophic factor polymorphismCOL4A3|Hematuria|benign familialCOL4A3|Alport syndrome|autosomal recessiveCOL10A1|Metaphyseal chondrodysplasia|schmid typeCOL7A1|Epidermolysis bullosa pruriginosa|autosomal recessiveCOL7A1|Epidermolysis bullosa pruriginosa|autosomal dominantCOL7A1|Toenail dystrophy|isolatedCOL7A1|Epidermolysis bullosa|pretibial|autosomal recessiveCOL7A1|Epidermolysis bullosa dystrophica with subcorneal cleavageCOL7A1|Epidermolysis bullosa dystrophica|Bart typeCOL7A1|Epidermolysis bullosa dystrophica|dominantCOL7A1|Epidermolysis bullosa dystrophica|autosomal recessiveCOL7A1|Epidermolysis bullosa|pretibialCOL7A1|Epidermolysis bullosa dystrophica|autosomal recessive|Localisata variantCOL7A1|Transient bullous dermolysis of the newbornCOL4A1|Brain small vessel disease with hemorrhageCOL4A1|Porencephaly|familialCOL4A4|Alport syndrome|autosomal recessiveCOL4A4|Hematuria|benign familialCOL2A1|Vitreoretinopathy with phalangeal epiphyseal dysplasiaCOL2A1|HypochondrogenesisCOL2A1|Platyspondylic skeletal dysplasia|Torrance typeCOL2A1|Rhegmatogenous retinal detachment|autosomal dominantCOL2A1|Avascular necrosis of the femoral head|primaryCOL2A1|Otospondylomegaepiphyseal dysplasiaCOL2A1|Stickler syndrome|type ICOL2A1|Osteoarthritis with mild chondrodysplasiaCOL2A1|Spondyloepiphyseal dysplasia congenitaCOL2A1|Achondrogenesis-hypochondrogenesis|type IICOL2A1|Spondyloepiphyseal dysplasia|namaqualand typeCOL2A1|Spondyloepimetaphyseal dysplasia|strudwick typeCOL2A1|Achondrogenesis|type IICOL2A1|Kniest dysplasiaCOL2A1|Spondyloepiphyseal dysplasia with precocious osteoarthritisCOL2A1|Stickler syndrome|type I|nonsyndromic ocularCOL2A1|Spondylometaphyseal dysplasia|congenital typeCOL2A1|Spondyloperipheral dysplasiaCOL2A1|Epiphyseal dysplasia|multiple|with myopia and conductive deafnessCOL1A1|Osteogenesis imperfecta|type IVCOL1A1|Osteogenesis imperfecta|type II/IIICOL1A1|Dissection of cervical arteries|susceptibility toCOL1A1|Osteoporosis|susceptibility toCOL1A1|Osteogenesis imperfecta|type II|thin-bone typeCOL1A1|Ehlers-Danlos syndrome|type VII-ACOL1A1|Ehlers-Danlos syndrome|type ICOL1A1|OI/EDS combined syndromeCOL1A1|Caffey diseaseCOL1A1|Osteogenesis imperfecta|type IICCOL1A1|Osteogenesis imperfecta|type IIACOL1A1|Osteoporosis|idiopathicCOL1A1|Osteogenesis imperfecta|type III/IVCOL1A1|Osteogenesis imperfecta|type ICOL1A1|Osteogenesis imperfecta|type IIICOL1A1|Osteogenesis imperfecta|type IICOL1A1|Ehlers-Danlos syndrome|type VIIACOL1A1|Osteogenesis imperfectaCOL1A2|Osteogenesis imperfecta/Ehlers-Danlos crossover syndromeCOL1A2|Ehlers-Danlos/osteogenesis imperfecta crossover syndromeCOL1A2|Ehlers-Danlos syndrome|autosomal recessive|cardiac valvular formCOL1A2|Osteogenesis imperfecta|atypical|with joint hypermobilityCOL1A2|Osteoporosis|postmenopausalCOL1A2|Osteogenesis imperfecta|type IV-BCOL1A2|Ehlers-Danlos syndrome|type VII-BCOL1A2|Osteogenesis imperfecta|type IICOL1A2|Dentinogenesis imperfecta|severe|with very mild osteogenesis imperfectaCOL1A2|Osteogenesis imperfecta|type IIICOL1A2|Marfan syndrome|atypicalCOL1A2|Osteogenesis imperfecta|type IVCOL1A2|Osteogenesis imperfecta|type III|autosomal recessiveCOL3A1|Aneurysm|familial arterialCOL3A1|Collagen type III polymorphismCOL3A1|Aortic aneurysmCOL3A1|Arterial aneurysms|familialCOL3A1|Ehlers-Danlos syndrome|type IVCOL3A1|Ehlers-Danlos syndrome|type IIICOL5A2|Ehlers-Danlos syndrome|type ICOL5A2|Ehlers-Danlos syndrome|type IICOL9A1|Epiphyseal dysplasia|multiple|COL9A1-relatedCOL9A1|Stickler syndrome|autosomal recessive|COL9A1-relatedCOL5A1|Ehlers-Danlos syndrome|type ICOL5A1|Ehlers-Danlos syndrome|mixed typeCOL5A1|Ehlers-Danlos syndrome|type IICOL6A1|Ullrich congenital muscular dystrophy|autosomal dominantCOL6A1|Ullrich congenital muscular dystrophy|autosomal recessiveCOL6A1|Bethlem myopathyCOL6A3|Ullrich congenital muscular dystrophyCOL6A3|Bethlem myopathyCOL9A2|Intervertebral disc disease|susceptibility toCOL9A2|Epiphyseal dysplasia|multiple|2COL9A3|Epiphyseal dysplasia|multiple|3COL9A3|Epiphyseal dysplasia|multiple|with myopathyCOL9A3|Intervertebral disc disease|susceptibility toCOL11A1|Marshall/Stickler syndromeCOL11A1|Stickler syndrome|type IICOL11A1|Marshall syndromeCOL11A2|Deafness|autosomal dominant nonsyndromic sensorineural 13COL11A2|Weissenbacher-Zweymuller syndrome|autosomal recessiveCOL11A2|Weissenbacher-Zweymuller syndromeCOL11A2|Deafness|autosomal recessive 53COL11A2|Stickler syndrome|type IIICOL11A2|Otospondylomegaepiphyseal dysplasiaCOL18A1|Knobloch syndromeMMP1|COPD|rate of decline of lung function inMMP8|Preterm premature rupture of the membranesMMP2|Multicentric osteolysis|nodulosis|and arthropathyMMP2|Winchester syndromeMSH2|MSH2 polymorphismMSH2|Colorectal cancer|hereditary|nonpolyposis|type 1MSH2|Neurofibromatosis|type I|with leukemiaMSH2|Glioblastoma|early-onsetMSH2|Muir-torre syndromeMSH2|Colorectal cancer|hereditary nonpolyposis|type 1MLH1|Colorectal cancer|sporadic|susceptibility toMLH1|Muir-torre syndromeMLH1|Turcot syndrome with glioblastomaMLH1|Colorectal cancer|hereditary nonpolyposis|type 2DCC|Esophageal carcinomaDCC|Colorectal cancerC1QA|C1q deficiency|type AC1QB|C1q deficiency|type BC1QC|C1q deficiency|type CC1S|C1s deficiencyCR1|Malaria|severe|protection againstC3|C3 polymorphism|HAV 4-1 plus/minus typeC3|C3 deficiencyC3|C3S/C3F polymorphismC4A|C4A deficiencyC5|Liver fibrosis|susceptibility toC5|Complement component 5 deficiencyCD46|Hemolytic-uremic syndrome|atypicalC9|C9 deficiencyC8A|Complement component 8|alpha subunit|A/B polymorphismC8B|Complement C8B deficiencyGJB2|Vohwinkel syndromeGJB2|Keratoderma|palmoplantar|with deafnessGJB2|Keratitis-ichthyosis-deafness syndrome|autosomal dominantGJB2|Keratitis-ichthyosis-deafness syndromeGJB2|Knuckle pads|leukonychia|and sensorineural deafnessGJB2|Deafness|neurosensory|autosomal recessive 1GJB2|Deafness|autosomal dominant nonsyndromic sensorineural 3GJA1|Oculodentodigital dysplasiaGJA1|Hypoplastic left heart syndromeGJA1|Syndactyly|type IIIGJA3|Cataract|zonular pulverulent|3FBN2|Contractural arachnodactyly|congenitalCPOX|HarderoporphyriaCPOX|CoproporphyriaSERPINA6|Corticosteroid-binding globulin deficiencyCYP2A6|Lung cancer|resistance toCYP2A6|Tegafur|poor metabolism ofCYP2A6|Coumarin|poor metabolism ofCYP2A6|Nicotine|poor metabolism ofMSX2|Parietal foramina 1MSX2|Parietal foramina with cleidocranial dysplasiaMSX2|Craniosynostosis|Boston-typeCRYAA|Cataract|autosomal recessive congenital 1CRYAA|Cataract|autosomal dominant nuclearCRYAA|Cataract|zonular central nuclearCRYAB|Cataract|posterior polar|2CRYAB|Alpha-B crystallinopathyCRYAB|Alpha-B crystallinopathy with cataractCRYBA1|Cataract|autosomal dominant|congenital|nuclear progressiveCRYBA1|Cataract|congenital zonular|with sutural opacitiesCRYBB2|Cataract|sutural|with punctate and cerulean opacitiesCRYBB2|Cataract|congenital|cerulean type|2CRYBB3|Cataract|congenital nuclear|autosomal recessive 2CRYBA4|Cataract|lamellar 2CRYBA4|Microphthalmia|isolated|with cataract 4CRYGC|Cataract|Coppock-likeCRYGC|Cataract|variable zonular pulverulentCRYGC|Cataract|congenital lamellarCRYGD|Cataract|crystalline aculeiformCRYGD|Cataract|crystalline|juvenile-onsetCRYGD|Cataract|congenital lamellarCRYGD|Cataract|congenital central nuclearCRYGD|Cataract|congenital|cerulean type|3CRYGD|Cataract|punctate|progressive juvenile-onsetCRYGS|Cataract|progressive polymorphic corticalCNGA1|Retinitis pigmentosa|autosomal recessiveCDK4|Melanoma|cutaneous malignant|3IL10RB|Hepatitis B virus|susceptibility toCTLA4|Graves disease|susceptibility toCTLA4|Hashimoto thyroiditis|susceptibility toKRT4|White sponge nevusCYP3A4|CYP3A4 promoter polymorphismPOR|Disordered steroidogenesis|isolatedPOR|POR deficiencyPOR|Adrenal hyperplasia|congenital|due to apparent combined P450C17 and P450C21 deficiencyCYP2C19|Mephenytoin|poor metabolism ofCYP2D6|Codeine|ultrarapid metabolism ofCYP2D6|Debrisoquine|poor metabolism ofCYP2D6|Debrisoquine|ultrarapid metabolism ofCYP19A1|Gynecomastia|familial|due to increased aromatase activityCYP19A1|Aromatase deficiency|placentalCYP19A1|Aromatase deficiencyCYP11B2|Aldosterone to renin ratio|increasedCYP11B2|Corticosterone methyloxidase type II deficiencyCYP11B2|Corticosterone methyloxidase type I deficiencyIL10|Human immunodeficiency virus type 1|susceptibility toIL10|Rheumatoid arthritis|progression ofCD55|Cromer blood group INAB phenotypeDCN|Corneal dystrophy|congenital stromalALAD|Aminolevulinate dehydratase|ALAD*1/ALAD*2 polymorphismALAD|Porphyria|acute hepatic|severe infantile-onset formALAD|Porphyria|acute hepaticDSPP|Dentinogenesis imperfecta|shields type IIDSPP|Deafness|autosomal dominant nonsyndromic sensorineural 39|with dentinogenesis imperfecta 1DSPP|Dentin dysplasia|type IIDNASE1|Systemic lupus erythematosus|susceptibility toDSC2|Arrhythmogenic right ventricular dysplasia|familial|11DSP|Dilated cardiomyopathy with woolly hair and keratodermaDSP|Skin fragility-woolly hair syndromeDSP|Arrhythmogenic right ventricular dysplasia|familial|8DSP|Epidermolysis bullosa|lethal acantholyticDSP|Keratosis palmoplantaris striata IIDES|Cardiomyopathy|dilated|1iDES|Myopathy|desmin-relatedDSG1|Keratosis palmoplantaris striata IDSG2|Arrhythmogenic right ventricular dysplasia|familial|10NQO1|Benzene toxicity|susceptibility toPCBD1|Hyperphenylalaninemia with primapterinuriaERCC2|Cerebrooculofacioskeletal syndrome 2ERCC2|Cerebrooculofacioskeletal syndromeERCC2|Xeroderma pigmentosum|complementation group DERCC2|TrichothiodystrophyERCC1|Cerebrooculofacioskeletal syndrome 4LIG1|Dna ligase I deficiencyTOP1|Dna topoisomerase I|camptothecin-resistantTOP2A|Dna topoisomerase II|resistance to inhibition of|by amsacrineDRD2|Myoclonus-dystonia syndromeDRD3|Schizophrenia|susceptibility toDRD4|Attention deficit-hyperactivity disorder|susceptibility toDRD4|Dopamine receptor D4 polymorphismDRD4|Autonomic nervous system dysfunctionDRD5|BlepharospasmDRD5|Attention deficit-hyperactivity disorder|susceptibility toSLC6A3|Nicotine dependence|protection againstSLC26A3|Chloride diarrhea|congenital|Finnish typeSLC26A3|Chloride diarrhea|congenitalEGR2|Dejerine-Sottas neuropathy|autosomal dominantEGR2|Neuropathy|congenital hypomyelinating|autosomal dominantEGR2|Neuropathy|congenital hypomyelinating|autosomal recessiveEGR2|Charcot-Marie-tooth disease|type 1DELANE|Cyclic hematopoiesisELANE|Neutropenia|severe congenital|autosomal dominant 1ELN|Cutis laxa|autosomal dominantELN|Supravalvular aortic stenosisETFB|Glutaric aciduria IIbEPB41|Elliptocytosis due to protein 4.1 MadridEPB41|ElliptocytosisEPB41|Elliptocytosis due to protein 4.1(95)EPB41|Elliptocytosis|hemolytic|due to protein 4.1(68/65)EPB41|Elliptocytosis due to absent protein 4.1MEN1|Adrenal adenoma|somaticMEN1|Multiple endocrine neoplasia|type IMEN1|Angiofibroma|somaticMEN1|Parathyroid adenoma|somaticMEN1|Carcinoid tumor of lungMEN1|Lipoma|somaticMEN1|Prolactinoma|hyperparathyroidism|carcinoid syndromeMEN1|Hyperparathyroidism|familial isolated primaryENG|Hereditary hemorrhagic telangiectasiaSELE|IgA nephropathy|susceptibility toEDN3|Waardenburg-Shah syndromeEDN3|Central hypoventilation syndrome|congenitalEDN3|Hirschsprung diseaseEDNRA|Migraine|resistance toGATA3|Hypoparathyroidism|sensorineural deafness|and renal diseaseEPX|Eosinophil peroxidase deficiencyEGFR|Nonsmall cell lung cancer|response to tyrosine kinase inhibitor in|somaticEGFR|Nonsmall cell lung cancer|resistance to tyrosine kinase inhibitor inEPHX1|Epoxide hydrolase polymorphismEPHX1|Hypercholanemia|familialEPHX1|Lymphoproliferative disorders|susceptibility toEPHX2|Hypercholesterolemia|familial|due to ldlr defect|modifier ofEPOR|Erythrocytosis|familial|1ESR1|HDL cholesterol|augmented response of|to hormone replacementESR1|Migraine|susceptibility toESR1|Estrogen receptor mutant|temperature-sensitiveESR1|Estrogen resistanceERCC3|Xeroderma pigmentosum|type B/Cockayne syndromeERCC3|TrichothiodystrophyERCC4|Xeroderma pigmentosum|type FERCC5|Xeroderma pigmentosum|group GERCC5|Xeroderma pigmentosum/Cockayne syndrome complexERCC6|Cerebrooculofacioskeletal syndromeERCC6|Macular degeneration|age-related|5ERCC6|UV-sensitive syndromeERCC6|Cockayne syndrome|type BEXT1|Exostoses|multiple|type IEXT1|Chondrosarcoma|somaticEXT1|Chondrosarcoma|sporadicEXT2|Exostoses|multiple|type IICFD|Complement factor d deficiencyCFH|Macular degeneration|age-related|4CFH|Complement factor H deficiencyCFH|Hemolytic uremic syndrome|atypicalCFH|Membranoproliferative glomerulonephritis with complement factor H deficiencyCFHR1|Macular degeneration|age-related|reduced risk ofF13A1|Factor XIII|A subunit|deficiency ofF13A1|Factor XIII|A subunit|polymorphism ofF13B|Factor XIII|B subunit|deficiency ofFAS|Squamous cell carcinoma|burn scar-related|somaticFAS|Lung cancer|susceptibility toFAS|Autoimmune lymphoproliferative syndrome|type IaFAS|Autoimmune lymphoproliferative syndrome|type Ia|autosomal recessiveFASLG|Lung cancer|susceptibility toFASLG|Autoimmune lymphoproliferative syndrome|type IbFABP2|Fatty acid-binding protein|intestinal|polymorphism ofGSTP1|Glutathione S-transferase pi polymorphism|type BGSTP1|Glutathione S-transferase pi polymorphism|type AGSTP1|Glutathione S-transferase pi polymorphism|type CFTH1|Iron overload|autosomal dominantFTL|Basal ganglia disease|adult-onsetFTL|Hyperferritinemia-cataract syndromeFBN1|Shprintzen-goldberg syndromeFBN1|Weill-Marchesani syndrome|autosomal dominantFBN1|Marfan syndrome|mild variableFBN1|Marfan syndromeFBN1|Marfan syndrome|severe classicFBN1|Marfanoid skeletal syndromeFBN1|Marfan syndrome|mildFBN1|Marfan syndrome|atypicalFBN1|Ectopia lentis|familialFBN1|Mass syndromeFBN1|Marfan syndrome|neonatalFBN1|Marfan syndrome|classicFBN1|Marfan syndrome|subdiagnostic variant ofFGA|Fibrinogen Aarhus 1FGA|Afibrinogenemia|congenitalFGA|Venous thromboembolism|susceptibility toFGA|Fibrinogen NieuwegeinFGA|Fibrinogen MarburgFGA|Hypodysfibrinogenemia|congenitalFGA|Fibrinogen KeokukFGA|Fibrinogen Caracas-2FGA|Fibrinogen Kyoto 2FGA|Fibrinogen LimaFGA|Fibrinogen Rouen 1FGA|Fibrinogen Detroit 1FGA|Fibrinogen Bergamo 1FGA|Fibrinogen Amiens 1FGA|Amyloidosis|renalFGA|Fibrinogen DusartFGA|Fibrinogen CanterburyFGB|Afibrinogenemia|congenitalFGB|Fibrinogen|beta-148 polymorphismFGB|Fibrinogen LongmontFGB|Hypofibrinogenemia|congenitalFGB|Fibrinogen Christchurch 2FGB|Fibrinogen NijmegenFGB|Fibrinogen NaplesFGB|Fibrinogen IseFGB|Fibrinogen New York 1FGB|Fibrinogen Baltimore 2FGB|Fibrinogen-beta polymorphismFGG|AfibrinogenemiaFGG|Fibrinogen Milano XII|digenicFGG|Fibrinogen HillsboroughFGG|Fibrinogen Osaka 5FGG|Fibrinogen Vlissingen 1FGG|Fibrinogen AsahiFGG|Fibrinogen Nagoya 1FGG|Fibrinogen Kyoto 3FGG|Fibrinogen Baltimore 3FGG|Fibrinogen Milano 1FGG|Fibrinogen Bergamo 2FGG|Fibrinogen Kyoto 1FGG|Fibrinogen Paris 1FGG|Fibrinogen Baltimore 1FGG|Fibrinogen Baltimore 4FGG|Fibrinogen Giessen 4FGG|Fibrinogen Matsumoto 1FGFR3|Colorectal cancer|somaticFGFR3|Ladd syndromeFGFR3|HypochondrodysplasiaFGFR3|Camptodactyly|tall stature|and hearing loss syndromeFGFR3|Crouzon syndrome with acanthosis nigricansFGFR3|HypochondroplasiaFGFR3|Thanatophoric dysplasia|type IFGFR3|Thanatophoric dysplasia|type IIFGFR3|AchondroplasiaFGFR3|Muenke syndromeFGFR3|Multiple myeloma|somaticFGFR3|Saddan dysplasiaFGFR4|Cancer progression and tumor cell motilityFMO3|FMO3 activity|decreasedFMO3|TrimethylaminuriaFGFR1|TrigonocephalyFGFR1|Kallmann syndrome 2 with cleft lip or palateFGFR1|Kallmann syndrome 2 with bimanual synkinesiaFGFR1|Kallmann syndrome 2 with cleft palateFGFR1|Kallmann syndrome 2 with multiple dental agenesisFGFR1|Kallmann syndrome 2FGFR1|Osteoglophonic dysplasiaFGFR1|Hypogonadotropic hypogonadismFGFR1|Pfeiffer syndromeFLT3|Leukemia|acute myeloid|reduced survival inFLT3|Leukemia|acute myeloidFLT3|Leukemia|acute lymphoblasticFLT4|Hemangioma|capillary infantile|somaticFLT4|Lymphedema|hereditary|IFSHR|Ovarian response to FSH stimulationFSHR|Ovarian hyperstimulation syndromeFSHR|Ovarian dysgenesis 1FSHR|Ovarian sex cord tumorsFSHB|Follicle-stimulating hormone deficiency|isolatedFUT6|Fucosyltransferase-6 deficiency|plasma|Indonesian typeFH|Leiomyomatosis and renal cell cancerFH|Multiple cutaneous and uterine leiomyomataFH|Fumarase deficiencyB4GALT1|Congenital disorder of glycosylation|type IidABAT|GABA-transaminase deficiencyGABRA1|Epilepsy|juvenile myoclonicGABRG2|Generalized epilepsy with febrile seizures plus|type 3GABRG2|Epilepsy|childhood absence|2GGCX|PXE-like disorder with multiple coagulation factor deficiencyGGCX|Vitamin K-dependent coagulation defectTACSTD2|Gelatinous drop-like corneal dystrophyGSN|Amyloidosis|familial|Finnish typeGFAP|Alexander diseaseGCGR|Diabetes mellitus|type IINR3C1|Pseudohermaphroditism|female|with hypokalemia|due to glucocorticoid resistanceNR3C1|Glucocorticoid resistance|familialNR3C1|Glucocorticoid resistance|cellularNR3C1|Glucocorticoid resistance|generalizedNR3C1|Glucocorticoid resistance|relativeNR3C1|Glucocorticoid receptor polymorphismGCK|Diabetes mellitus|permanent neonatalGCK|Diabetes mellitus|noninsulin-dependent|late-onsetGCK|Maturity-onset diabetes of the young|type IIGCK|Diabetes mellitus|gestationalGCK|Hyperinsulinemic hypoglycemia|familial|3H6PD|Cortisone reductase deficiencySLC2A1|Glucose transport defect|blood-brain barrierSLC2A2|Diabetes mellitus|noninsulin-dependentSLC2A2|Fanconi-Bickel syndromeSLC2A4|Diabetes mellitus|noninsulin-dependentGPT|Glutamic-pyruvate transaminase|polymorphism ofALDH18A1|Hyperammonemia with hypoornithinemia|hypocitrullinemia|hypoargininemia|and hypoprolinemiaGLUL|Glutamine deficiency|congenitalGPD2|Diabetes mellitus|type IICFB|Macular degeneration|age-related|reduced risk ofCFB|Factor B fast-slow polymorphismGLRA1|Hyperekplexia|autosomal recessiveGLRA1|Hyperekplexia|autosomal dominantGLRA1|Hyperekplexia and spastic paraparesisGYS2|Glycogen storage disease 0ORM1|Orosomucoid polymorphismAHSG|Leanness|susceptibility toAPOH|APOH polymorphismGP1BB|Bernard Soulier syndrome|type BGP1BB|Macrothrombocytopenia|familial|Bernard-Soulier typeGNRHR|Hypogonadotropic hypogonadismGRN|Frontotemporal dementia|ubiquitin-positiveCSF2RB|Pulmonary alveolar proteinosisGNB3|GNB3 polymorphismRASA1|Capillary malformation-arteriovenous malformationRASA1|Basal cell carcinoma|somaticGHRHR|Growth hormone deficiency|isolatedGC|GC1/GC2 polymorphismGH1|Isolated growth hormone deficiency|type 1BGH1|Short stature|idiopathic|autosomalGH1|Isolated growth hormone deficiency|type IIGH1|Growth hormone deficiencyGH1|Isolated growth hormone deficiency|type IaGH1|Isolated growth hormone deficiency|type IbGH1|Kowarski syndromeGMPR|GMP reductase polymorphismGNAS|Mccune-Albright syndromeGNAS|Prolonged bleeding time|brachydactyly|and mental retardationGNAS|PseudopseudohypoparathyroidismGNAS|Osseous heteroplasia|progressiveGNAS|Pseudohypoparathyroidism|type IbGNAS|Pseudohypoparathyroidism|type IaGNAS|Albright hereditary osteodystrophyGNAS|Pituitary tumor|growth hormone-secretingGNAS|Pituitary adenoma|ACTH-secretingGNAS|Albright hereditary osteodystrophy with testotoxicosisGNAT2|Achromatopsia 4KRT1|Ichthyosis|cyclic|with epidermolytic hyperkeratosisKRT1|Ichthyosis histrix|Curth-Macklin typeKRT1|Palmoplantar keratoderma|nonepidermolyticKRT1|Bullous congenital ichthyosiform erythrodermaKRT1|Keratosis palmoplantaris striata IIIKRT1|Palmoplantar keratodermaKRT1|Epidermolytic hyperkeratosis|late-onsetKRT1|Epidermolytic hyperkeratosisKRT1|Unna-Thost diseaseGNAI2|Adrenal cortical tumorGNAI2|Pituitary adenoma|ACTH-secretingGNAI2|Ventricular tachycardia|idiopathicHP|Haptoglobin|alpha-1|fast-slow polymorphismHP|Haptoglobin|alpha-2HP|AnhaptoglobinemiaHMOX1|Heme oxygenase 1 deficiencyHBA1|Hemoglobin BourmedesHBA1|Hemoglobin KarachiHBA1|Hemoglobin OleanderHBA1|Hemoglobin Aghia SophiaHBA1|Hemoglobin CharollesHBA1|Hemoglobin RoubaixHBA1|Hemoglobin OttawaHBA1|Hemoglobin MoabitHBA1|Hemoglobin SuresnesHBA1|Hemoglobin AryaHBA1|Hemoglobin DoualaHBA1|Hemoglobin TitusvilleHBA1|Hemoglobin AnantharajHBA1|Thalassemia|alpha-plusHBA1|Hemoglobin HirosakiHBA1|Hemoglobin StrumicaHBA1|Hemoglobin DelfzichtHBA1|Hemoglobin J (Kurosh)HBA1|Hemoglobin PerspolisHBA1|Hemoglobin Alpha variants|molecular defect unknownHBA1|Hemoglobin M (Boston)HBA1|Hemoglobin Hopkins 2HBA1|Hemoglobin G (Taichung)HBA1|Hemoglobin O (Indonesia)HBA1|Hemoglobin NorfolkHBA1|Hemoglobin ShimonosekiHBA1|Hemoglobin Al-ain Abu DhabiHBA1|Hemoglobin YudaHBA1|Hemoglobin RussHBA1|Hemoglobin Saratoga SpringsHBA1|Hemoglobin LutonHBA1|Hemoglobin DieHBA1|Hemoglobin BeziersHBA1|Hemoglobin ZaireHBA1|Hemoglobin MontefioreHBA1|Hemoglobin RouenHBA1|Hemoglobin TamanoHBA1|Hemoglobin TokyoHBA1|Hemoglobin BuffaloHBA1|Hemoglobin RiccartonHBA1|Hemoglobin OegstgeestHBA1|Hemoglobin ThionvilleHBA1|Hemoglobin KanagawaHBA1|Hemoglobin TurriffHBA1|Hemoglobin Lamen IslandHBA1|Alpha-thalassemiaHBA1|Hemoglobin Port HuronHBA1|Hemoglobin FukutomiHBA1|Hemoglobin AttleboroHBA1|Hemoglobin J (Anatolia)HBA1|Hemoglobin TonoshoHBA1|Hemoglobin G (Norfolk)HBA1|Hemoglobin BelliardHBA1|Hemoglobin PavieHBA1|Hemoglobin QuestembertHBA1|Hemoglobin CatonsvilleHBA1|Hemoglobin FontainebleauHBA1|Hemoglobin NouakchottHBA1|Hemoglobin LuxembourgHBA1|Hemoglobin MiyanoHBA1|Hemoglobin ReimsHBA1|Hemoglobin Fort de FranceHBA1|Hemoglobin ToyamaHBA1|Hemoglobin M (Iwate)HBA1|Hemoglobin LoireHBA1|Hemoglobin HekinanHBA1|Hemoglobin GuangzhouHBA1|Hemoglobin Swan RiverHBA1|Hemoglobin HobartHBA1|Hemoglobin SassariHBA1|Hemoglobin OwariHBA1|Hemoglobin WoodvilleHBA1|Hemoglobin ChicagoHBA1|Hemoglobin Twin PeaksHBA1|Hemoglobin GuizhouHBA1|Hemoglobin Daneshgah-TehranHBA1|Hemoglobin AztecHBA1|Hemoglobin NunobikiHBA1|Hemoglobin J (Paris 1)HBA1|Hemoglobin BroussaisHBA1|Hemoglobin J (Abidjan)HBA1|Hemoglobin O (Padova)HBA1|Hemoglobin GradyHBA1|Hemoglobin G (Pest)HBA1|Hemoglobin J (Birmingham)HBA1|Hemoglobin Q (India)HBA1|Hemoglobin SetifHBA1|Hemoglobin J (Nyanza)HBA1|Hemoglobin WinnipegHBA1|Hemoglobin SawaraHBA1|Hemoglobin G (Waimanalo)HBA1|Hemoglobin DunnHBA1|Hemoglobin Sunshine SethHBA1|Hemoglobin J (Rovigo)HBA1|Hemoglobin J (Habana)HBA1|Hemoglobin l (Persian Gulf)HBA1|Hemoglobin Ann ArborHBA1|Hemoglobin St. Luke'sHBA1|Hemoglobin Denmark HillHBA1|Hemoglobin J (Singapore)HBA1|Hemoglobin AtagoHBA1|Hemoglobin G (Fort Worth)HBA1|Hemoglobin J (Rajappen)HBA1|Hemoglobin G (Georgia)HBA1|Hemoglobin Q (Iran)HBA1|Hemoglobin BibbaHBA1|Hemoglobin TorinoHBA1|Hemoglobin ChiapasHBA1|Hemoglobin MexicoHBA1|Hemoglobin G (Audhali)HBA1|Hemoglobin Stanleyville-IIHBA1|Hemoglobin ChadHBA1|Hemoglobin SingaporeHBA1|Hemoglobin ZambiaHBA1|Hemoglobin J (Toronto)HBA1|Hemoglobin IHBA1|Hemoglobin CemenelumHBA1|Hemoglobin ChesapeakeHBA1|Hemoglobin J (Cape Town)HBA1|Hemoglobin J (Tongariki)HBA1|Hemoglobin UBE-2HBA1|Hemoglobin ThailandHBA1|Hemoglobin MemphisHBA1|Hemoglobin WestmeadHBA1|Hemoglobin TokonameHBA1|Hemoglobin KariyaHBA1|Hemoglobin J (Camaguey)HBA1|Hemoglobin UBE-4HBA1|Hemoglobin AichiHBA1|Hemoglobin ChongqingHBA1|Hemoglobin HarbinHBA1|Hemoglobin CordeleHBA1|Hemoglobin ContaldoHBA1|Hemoglobin J (Tashikuergan)HBA1|Hemoglobin J (Singa)HBA1|Hemoglobin DagestanHBA1|Hemoglobin KawachiHBA1|Hemoglobin HandaHBA1|Hemoglobin Albany-GeorgiaHBA1|Hemoglobin EtobicokeHBA1|Hemoglobin EvanstonHBA1|Hemoglobin IwataHBA1|Hemoglobin LegnanoHBA1|Hemoglobin OgiHBA1|Hemoglobin KokuraHBA1|Hemoglobin le LamentinHBA1|Hemoglobin ShenyangHBA1|Hemoglobin BeijingHBA1|Hemoglobin MilledgevilleHBA1|Hemoglobin FerndownHBA1|Hemoglobin TottoriHBA1|Hemoglobin LilleHBA1|Hemoglobin NokoHBA1|Hemoglobin WumingHBA1|Hemoglobin ShuangfengHBA1|Hemoglobin DuanHBA1|Hemoglobin SavariaHBA1|Hemoglobin BariHBA1|Hemoglobin Shaare ZedekHBA1|Hemoglobin Necker Enfants-MaladesHBA1|Hemoglobin MizushiHBA1|Hemoglobin Petah TikvaHBA1|Hemoglobin MalhacenHBA1|Hemoglobin LisbonHBA1|Hemoglobin TatrasHBA1|Hemoglobin Tunis-BizerteHBA1|Hemoglobin RoanneHBA1|Hemoglobin PoitiersHBA1|Hemoglobin CaenHBA1|Hemoglobin MelusineHBA1|Hemoglobin Chapel HillHBA1|Hemoglobin OzieriHBA1|Hemoglobin PontoiseHBA1|Hemoglobin HandsworthHBA1|Hemoglobin Mantes-la-JolieHBA1|Hemoglobin MosellaHBA1|Hemoglobin Bois GuillaumeHBA1|Hemoglobin Fuchu-IHBA1|Hemoglobin GoudaHBA1|Hemoglobin KoellikerHBA1|Hemoglobin Matsue-OkiHBA1|Hemoglobin J (Cubujuqui)HBA1|Hemoglobin Port PhillipHBA1|Hemoglobin VilleurbanneHBA1|Hemoglobin J (Biskra)HBA1|Hemoglobin JacksonHBA1|Hemoglobin GodavariHBA1|Hemoglobin OitaHBA2|Hemoglobin Seal RockHBA2|Hemoglobin AntananarivoHBA2|Hemoglobin TarrantHBA2|Hemoglobin BogheHBA2|Hemoglobin ToulonHBA2|Hemoglobin WayneHBA2|Hemoglobin SallanchesHBA2|Hemoglobin CampinasHBA2|Alpha-thalassemia|ZF typeHBA2|Hemoglobin MontgomeryHBA2|Hemoglobin NikaiaHBA2|Hemoglobin Clinico-MadridHBA2|Hemoglobin Koya DoraHBA2|Hemoglobin DartmouthHBA2|Hemoglobin GerlandHBA2|Hemoglobin NortonHBA2|Hemoglobin Park RidgeHBA2|Hemoglobin San AntonioHBA2|Hemoglobin LombardHBA2|Hemoglobin ManawatuHBA2|Hemoglobin Spanish TownHBA2|Hemoglobin ChartresHBA2|Hemoglobin FukuiHBA2|Hemoglobin G (Honolulu)HBA2|Hemoglobin G (Bristol)HBA2|Hemoglobin l (Ferrara)HBA2|Hemoglobin J (Oxford)HBA2|Hemoglobin Decines-CharpieuHBA2|Hemoglobin Part-DieuHBA2|Alpha-plus-thalassemiaHBA2|Hemoglobin Zurich AlbisriedenHBA2|Hemoglobin PassyHBA2|Alpha-thalassemia-2|nondeletionalHBA2|Hemoglobin PlasenciaHBA2|Hemoglobin HanamakiHBA2|Alpha-thalassemia|Hmong typeHBA2|Hemoglobin Al-Hammadi RiyadhHBA2|Hemoglobin Columbia MissouriHBA2|Hemoglobin Sun PrairieHBA2|Hemoglobin DavenportHBA2|Hemoglobin EvansHBA2|Hemoglobin NatalHBA2|Hemoglobin H diseaseHBA2|Hemoglobin InksterHBA2|Hemoglobin IcariaHBA2|Hemoglobin J (Buda)HBA2|Hemoglobin Suan-DokHBA2|Hemoglobin PratoHBA2|Hemoglobin Constant SpringHBA2|Hemoglobin RampaHBA2|Hemoglobin J (Sardegna)HBA2|Alpha-thalassemiaHBA2|Hemoglobin IHBA2|Hemoglobin ManitobaHBA2|Hemoglobin Boyle HeightsHBA2|Alpha-thalassemia traitHBA2|Hemoglobin Quong SzeHBA2|Hemoglobin BibbaHBA2|Hemoglobin KurosakiHBA2|Hemoglobin AnamosaHBA2|Hemoglobin AakaeHBA2|Hemoglobin KurdistanHBA2|Hemoglobin val de MarneHBA2|Alpha-thalassemia|Dutch typeHBA2|Hemoglobin WattsHBA2|Hemoglobin AgrinioHBA2|Hemoglobin ConakryHBB|Hemoglobin PoissyHBB|Hemoglobin South FloridaHBB|Hemoglobin North ChicagoHBB|Hemoglobin MitoHBB|Hemoglobin PerthHBB|Hemoglobin RushHBB|Hemoglobin MadridHBB|Hemoglobin J (Sicilia)HBB|Hemoglobin CowtownHBB|Hemoglobin AvicennaHBB|Hemoglobin St. LouisHBB|Hemoglobin Terre HauteHBB|Hemoglobin IndianapolisHBB|Hemoglobin DuarteHBB|Hemoglobin LyonHBB|Hemoglobin Andrew-MinneapolisHBB|Hemoglobin BelfastHBB|Hemoglobin MoscvaHBB|Hemoglobin CamdenHBB|Hemoglobin IstanbulHBB|Hemoglobin OlympiaHBB|Hemoglobin ToursHBB|Hemoglobin St. AntoineHBB|Hemoglobin D (Iran)HBB|Hemoglobin D (Ouled Rabah)HBB|Hemoglobin BrighamHBB|Hemoglobin HeathrowHBB|Hemoglobin SouthamptonHBB|Hemoglobin OkaloosaHBB|Hemoglobin BeogradHBB|Hemoglobin NottinghamHBB|Hemoglobin San DiegoHBB|Hemoglobin AnkaraHBB|Hemoglobin NagasakiHBB|Hemoglobin RichmondHBB|Hemoglobin K (Woolwich)HBB|Hemoglobin Bougardirey-MaliHBB|Hemoglobin J (Calabria)HBB|Hemoglobin Deer LodgeHBB|Hemoglobin AbruzzoHBB|Hemoglobin G (hsi-tsou)HBB|Hemoglobin Ocho RiosHBB|Hemoglobin PeterboroughHBB|Hemoglobin BethesdaHBB|Hemoglobin LouisvilleHBB|Hemoglobin Osu ChristiansborgHBB|Hemoglobin EdmontonHBB|Hemoglobin MalmoHBB|Hemoglobin TA-lIHBB|Hemoglobin J (Kaohsiung)HBB|Hemoglobin YoshizukaHBB|Hemoglobin Shepherds BushHBB|Hemoglobin G (Makassar)HBB|Hemoglobin BristolHBB|Hemoglobin SeattleHBB|Hemoglobin beta variants|molecular defect unknownHBB|Hemoglobin I (High Wycombe)HBB|Hemoglobin SavannahHBB|Hemoglobin O (Arab)HBB|Hemoglobin HijiyamaHBB|Hemoglobin HofuHBB|Hemoglobin N (Seattle)HBB|Hemoglobin PotomacHBB|Hemoglobin G (Taiwan-Ami)HBB|Hemoglobin KempseyHBB|Hemoglobin YukuhashiHBB|Hemoglobin YpsilantiHBB|Hemoglobin WienHBB|Hemoglobin LeidenHBB|Hemoglobin Riverdale-BronxHBB|Hemoglobin SognHBB|Hemoglobin Santa anaHBB|Hemoglobin Korle-BuHBB|Hemoglobin HiroshimaHBB|Hemoglobin SabineHBB|Hemoglobin OlmstedHBB|Hemoglobin KhartoumHBB|Hemoglobin BorasHBB|Hemoglobin J (Taichung)HBB|Hemoglobin G (Szuhu)HBB|Hemoglobin G (Taipei)HBB|Hemoglobin I (Toulouse)HBB|Hemoglobin RainierHBB|Hemoglobin PhillyHBB|Hemoglobin J (Rambam)HBB|Hemoglobin TacomaHBB|Hemoglobin N (Baltimore)HBB|Hemoglobin Sherwood ForestHBB|Hemoglobin FreiburgHBB|Hemoglobin J (Bangkok)HBB|Hemoglobin AgenogiHBB|Hemoglobin J (Lome)HBB|Hemoglobin New YorkHBB|Hemoglobin Gun HillHBB|Hemoglobin GavelloHBB|Hemoglobin G (Copenhagen)HBB|Hemoglobin SydneyHBB|Hemoglobin GenovaHBB|Hemoglobin YakimaHBB|Hemoglobin HammersmithHBB|Hemoglobin D (Bushman)HBB|Hemoglobin MachidaHBB|Hemoglobin VicksburgHBB|Hemoglobin BrisbaneHBB|Hemoglobin YatsushiroHBB|Hemoglobin OhioHBB|Hemoglobin BrocktonHBB|Hemoglobin CocodyHBB|Hemoglobin J (Daloa)HBB|Hemoglobin MiyadaHBB|Hemoglobin TY GardHBB|Hemoglobin City of HopeHBB|Hemoglobin British ColumbiaHBB|Hemoglobin Minneapolis-LaosHBB|Hemoglobin WarwickshireHBB|Hemoglobin MarseilleHBB|Hemoglobin JianghuaHBB|Hemoglobin Quin-HaiHBB|Hemoglobin BunburyHBB|Hemoglobin MaputoHBB|Hemoglobin CollingwoodHBB|Hemoglobin KnossosHBB|Hemoglobin SaitamaHBB|Hemoglobin HiroseHBB|Hemoglobin OkazakiHBB|Hemoglobin VanderbiltHBB|Hemoglobin Mckees RocksHBB|Hemoglobin OkayamaHBB|Hemoglobin Rio GrandeHBB|Hemoglobin CheverlyHBB|Hemoglobin BeirutHBB|Hemoglobin MizunamiHBB|Hemoglobin HoshidaHBB|Hemoglobin DetroitHBB|Hemoglobin PresbyterianHBB|Hemoglobin MozhaiskHBB|Hemoglobin BarcelonaHBB|Hemoglobin Palmerston NorthHBB|Hemoglobin Summer HillHBB|Hemoglobin Hotel-DieuHBB|Hemoglobin J (Altgeld Gardens)HBB|Hemoglobin BolognaHBB|Hemoglobin St. MandeHBB|Hemoglobin J (Lens)HBB|Hemoglobin YokohamaHBB|Hemoglobin MiyashiroHBB|Hemoglobin YusaHBB|Hemoglobin TakamatsuHBB|Hemoglobin TampaHBB|Hemoglobin PasadenaHBB|Hemoglobin Pitie-SalpetriereHBB|Hemoglobin ToyoakeHBB|Hemoglobin ShelbyHBB|Hemoglobin HakkariHBB|Hemoglobin YaizuHBB|Hemoglobin Hradec KraloveHBB|Hemoglobin WashtenawHBB|Hemoglobin TyneHBB|Hemoglobin Medicine LakeHBB|Hemoglobin Athens-GeorgiaHBB|Hemoglobin DenverHBB|Hemoglobin HowickHBB|Hemoglobin VillaverdeHBB|Hemoglobin HelsinkiHBB|Hemoglobin ManukauHBB|Hemoglobin CoventryHBB|Hemoglobin HigashitochigiHBB|beta-thalassemia|Ashkenazi Jewish typeHBB|Hemoglobin KarlskogaHBB|Hemoglobin AleshaHBB|Hemoglobin TigrayeHBB|Hemoglobin D (Neath)HBB|Hemoglobin Saint NazaireHBB|Hemoglobin MuskegonHBB|Hemoglobin J (Guantanamo)HBB|Hemoglobin PuttelangeHBB|Hemoglobin ArtaHBB|Hemoglobin RadcliffeHBB|Hemoglobin DebrousseHBB|Hemoglobin Costa RicaHBB|beta-thalassemia|dominant|Spanish typeHBB|Hemoglobin AuroraHBB|Hemoglobin NakanoHBB|Hemoglobin HinwilHBB|Hb AubenasHBB|Hemoglobin J (Europa)HBB|Hemoglobin TsurumaiHBB|Hb CamperdownHBB|Hemoglobin YamagataHBB|Beta-zero-thalassemiaHBB|Hemoglobin North ShoreHBB|Hemoglobin PyrgosHBB|Hemoglobin RiyadhHBB|Hemoglobin VaasaHBB|Hemoglobin Arlington ParkHBB|Hemoglobin MizuhoHBB|Hemoglobin AlbertaHBB|Hb NiigataHBB|Hemoglobin DjelfaHBB|Hemoglobin RothschildHBB|Hemoglobin AlamoHBB|Hb GambaraHBB|Hemoglobin HacettepeHBB|Hemoglobin Silver SpringsHBB|Hemoglobin TakHBB|Hemoglobin VolgaHBB|Hemoglobin Burton-upon-TrentHBB|Hemoglobin HokusetsuHBB|Hemoglobin TendeHBB|Hemoglobin CaribbeanHBB|Hemoglobin ChristchurchHBB|Hemoglobin FukuokaHBB|Hemoglobin J (Amiens)HBB|Hemoglobin MequonHBB|Hemoglobin N (Memphis)HBB|Hemoglobin SaverneHBB|Hemoglobin CalaisHBB|Hemoglobin DieppeHBB|Hemoglobin TrollhaettanHBB|Hemoglobin la Roche-Sur-YonHBB|Hemoglobin RockfordHBB|Hemoglobin Jamaica PlainHBB|Hemoglobin Tizi-PuzouHBB|Hemoglobin TripoliHBB|Hemoglobin KochiHBB|Hemoglobin ZoeterwoudeHBB|Hemoglobin Brem-Sur-MerHBB|Hemoglobin ManhattanHBB|Hemoglobin HoustonHBB|Hemoglobin Geldrop St. AnnaHBB|beta-thalassemia intermedia|dominantHBB|Hemoglobin Rancho MirageHBB|Hemoglobin J (Chicago)HBB|Hemoglobin ChesterfieldHBB|Hemoglobin MarineoHBB|Hemoglobin la CorunaHBB|Hemoglobin VallettaHBB|Hemoglobin J (Luhe)HBB|Hemoglobin ClevelandHBB|Hemoglobin CoimbraHBB|Hemoglobin MontrealHBB|Hemoglobin Quebec-ChoriHBB|Hemoglobin KoreaHBB|Hemoglobin YahataHBB|Hemoglobin St. FrancisHBB|Hemoglobin RedondoHBB|Hemoglobin K (Ibadan)HBB|Hemoglobin GrenobleHBB|Hemoglobin AustinHBB|Hemoglobin RaleighHBB|Hemoglobin S (Travis)HBB|Hemoglobin JacksonvilleHBB|Hemoglobin GaliciaHBB|Hemoglobin BirminghamHBB|Hemoglobin TianshuiHBB|Hemoglobin AalborgHBB|Hemoglobin JohnstownHBB|Hemoglobin ZengchengHBB|Hemoglobin IowaHBB|beta-thalassemiaHBB|Hemoglobin SyracuseHBB|Hemoglobin South MilwaukeeHBB|Hemoglobin SakiHBB|Hemoglobin NeversHBB|Hemoglobin MateraHBB|Hemoglobin DhonburiHBB|Hemoglobin LufkinHBB|Hemoglobin Cochin-Port RoyalHBB|Hemoglobin MississippiHBB|Hemoglobin P (Nilotic)HBB|Hemoglobin HinsdaleHBB|Hemoglobin WindsorHBB|Hemoglobin BruxellesHBB|beta-plus-thalassemiaHBB|Hemoglobin N (Timone)HBB|Hemoglobin ChandigarhHBB|Hemoglobin MoriguchiHBB|Hemoglobin MasudaHBB|Hemoglobin G (Ferrara)HBB|Hemoglobin ExtremaduraHBB|Hemoglobin CreteilHBB|Hemoglobin MalayHBB|Hemoglobin NikosiaHBB|Hemoglobin Lincoln ParkHBB|Hemoglobin KairouanHBB|Hemoglobin VillejuifHBB|Hemoglobin Showa-YakushijiHBB|Hemoglobin S (Oman)HBB|Beta-thalassemia|dominant inclusion body typeHBB|Hemoglobin E (Saskatoon)HBB|Hemoglobin KoriyamaHBB|Hemoglobin FukuyamaHBB|Hemoglobin S (Providence)HBB|Hemoglobin TilburgHBB|Hemoglobin J (Cordoba)HBB|Hemoglobin TunisHBB|Hemoglobin SunnybrookHBB|Hemoglobin LinkopingHBB|Hemoglobin RandwickHBB|Hemoglobin las PalmasHBB|Hemoglobin Pierre-BeniteHBB|Hemoglobin BrestHBB|Hemoglobin HafniaHBB|Hemoglobin ChicoHBB|Hemoglobin D (Granada)HBB|Hemoglobin S (Antilles)HBB|Hemoglobin la DesiradeHBB|Hemoglobin CreteHBB|Hemoglobin Little RockHBB|Hemoglobin OlomoucHBB|Hemoglobin HamiltonHBB|Hemoglobin J (Auckland)HBB|Hemoglobin Grange-BlancheHBB|Hemoglobin ShanghaiHBB|Hemoglobin J (Antakya)HBB|Hemoglobin Atlanta-CoventryHBB|Hemoglobin KofuHBB|Hemoglobin BicetreHBB|Hemoglobin HimejiHBB|Hemoglobin SendagiHBB|Hemoglobin Roseau-Pointe a PitreHBB|Hemoglobin KenitraHBB|Hemoglobin NagoyaHBB|Hemoglobin BushwickHBB|Hemoglobin ReginaHBB|Hemoglobin Gainesville-GAHBB|Hemoglobin DohaHBB|Hemoglobin New mexicoHBB|Hemoglobin J (Cairo)HBB|Hemoglobin StrasbourgHBB|Hemoglobin Henri MondorHBB|Hemoglobin BarbizonHBB|Hemoglobin VancouverHBB|Hemoglobin ChileHBB|Hemoglobin NijkerkHBB|Hemoglobin Rio ClaroHBB|Hemoglobin Iraq-HalabjaHBB|Hemoglobin LucknowHBB|Hemoglobin SagamiHBB|Hemoglobin HarrowHBB|Hemoglobin Brie Comte RobertHBB|Hemoglobin WillametteHBB|Hemoglobin Bologna-St. OrsolaHBB|Hemoglobin CranstonHBB|Hemoglobin Vila RealHBB|Hemoglobin SaaleHBB|Hemoglobin TsukumiHBB|Hemoglobin CasablancaHBB|Hemoglobin BusheyHBB|Hemoglobin BurkeHBB|Hemoglobin AlabamaHBB|Hemoglobin OslerHBB|Hemoglobin ErnzHBB|Hemoglobin RenertHBB|Hemoglobin WatfordHBB|Hemoglobin HamadanHBB|Hemoglobin SitiaHBB|Hemoglobin Mont Saint-AignanHBB|Hemoglobin YaoundeHBB|Hemoglobin AtlantaHBB|Hemoglobin CamperdownHBB|Hemoglobin D (Agri)HBB|Hemoglobin 't Lange LandHBB|Hemoglobin WoodHBB|Hemoglobin AntalyaHBB|Hemoglobin LimassolHBB|Hemoglobin MobileHBB|Thalassemia IntermediaHBB|Hemoglobin ProvidenceHBB|Hemoglobin Fannin-LubbockHBB|Hemoglobin O (Tibesti)HBB|Hemoglobin IlmenauHBB|Hemoglobin CanterburyHBB|Hemoglobin MolfettaHBB|Hemoglobin AubagneHBB|Hemoglobin Kodaira IIHBB|Hemoglobin CastillaHBB|Hemoglobin C (Ziguinchor)HBB|Hemoglobin NewcastleHBB|Hemoglobin RahereHBB|Hemoglobin YorkHBB|Hemoglobin Pocos de CaldasHBB|Hemoglobin ColimaHBB|Hemoglobin TrentoHBB|Hemoglobin SantanderHBB|Hemoglobin AltdorfHBB|Hemoglobin Beth IsraelHBB|Hemoglobin TubingenHBB|beta-thalassemia intermediaHBB|Hemoglobin G (San Jose)HBB|Hemoglobin M (Saskatoon)HBB|Hemoglobin N|beta typeHBB|Hemoglobin D (Punjab)HBB|Hemoglobin M (Milwaukee 2)HBB|Hemoglobin J (Iran)HBB|Hemoglobin EHBB|Hemoglobin ZurichHBB|Hemoglobin P (Congo)HBB|Hemoglobin J (Baltimore)HBB|Hemoglobin SHBB|Hemoglobin M (Milwaukee 1)HBB|Hemoglobin G (Galveston)HBB|Hemoglobin C (Georgetown)HBB|Hemoglobin Porto AlegreHBB|Hemoglobin G (Coushatta)HBB|Hemoglobin PHBB|Hemoglobin KolnHBB|Hemoglobin HikariHBB|Hemoglobin HopeHBB|Hemoglobin SirirajHBB|Hemoglobin D (Ibadan)HBB|Hemoglobin G (Accra)HBB|Hemoglobin KansasHBB|Hemoglobin BadenHBB|Hemoglobin Santa ClaraHBB|Hemoglobin SpartaHBB|Hemoglobin BuzenHBB|Hemoglobin CHBB|Hemoglobin GrazHBB|Hemoglobin DuinoHBB|Hemoglobin MuscatHBB|Hemoglobin Bab-SaadounHBB|Hemoglobin CardarelliHBD|Hemoglobin A(2) CoburgHBD|Hemoglobin A(2) MonrealeHBD|Hemoglobin A(2) MetapontoHBD|Hemoglobin A(2) LucaniaHBD|Hemoglobin A(2) LapriHBD|Hemoglobin A(2) CampaniaHBD|Hemoglobin A(2)-primeHBD|Hemoglobin Lepore (Hollandia)HBD|Hemoglobin Delta variants|molecular defect unknownHBD|Hemoglobin A(2) FlatbushHBD|Hemoglobin A(2) NiniveHBD|Delta-plus-thalassemiaHBD|Hemoglobin A(2) PelendriHBD|Hemoglobin A(2) NiigataHBD|Hemoglobin A(2) ParkvilleHBD|Delta-zero-thalassemia|Knossos typeHBD|Hemoglobin A(2) CorfuHBD|Hemoglobin A(2) WrensHBD|Hemoglobin A(2) HonaiHBD|Delta-thalassemiaHBD|Hemoglobin A(2) YokoshimaHBD|Hemoglobin A(2) MelbourneHBD|Hemoglobin A(2) IndonesiaHBD|Hemoglobin Lepore (Baltimore)HBD|Hemoglobin A(2) BabingaHBD|Hemoglobin A(2) NyuHBD|Hemoglobin A(2) SphakiaHBD|Hemoglobin Lepore (Boston)HBD|Hemoglobin A(2) VictoriaHBD|Hemoglobin A(2) FitzroyHBD|Hemoglobin A(2) ManzanaresHBD|Hemoglobin A(2) ZagrebHBD|Hemoglobin ParchmanHBD|Hemoglobin A(2) CanadaHBD|Hemoglobin A(2) Sant' AntiocoHBD|Delta-0-thalassemiaHBD|Hemoglobin A(2) PugliaHBD|Hemoglobin A(2) AgrinioHBD|Hemoglobin A(2) RooseveltHBG1|Hemoglobin F (Victoria Jubilee)HBG1|Hemoglobin F (Porto Torres)HBG1|Hemoglobin F (Jiangsu)HBG1|Hereditary persistence of fetal hemoglobin|Georgia type|due to mutation in HBG1 promoterHBG1|Hemoglobin F (Charlotte)HBG1|Hemoglobin F (Woodstock)HBG1|Hereditary persistence of fetal hemoglobin|brazilian type|due to mutation in HBG1 promoterHBG1|Hemoglobin F (Dammam)HBG1|Hereditary persistence of fetal Hemoglobin Due to mutation in HBG1 promoterHBG1|Hemoglobin F (Pendergrass)HBG1|Hemoglobin F (Cobb)HBG1|Hemoglobin F (Beech Island)HBG1|Hemoglobin F (Xinjiang)HBG1|Hemoglobin F (Xin-Su)HBG1|Hemoglobin F (Baskent)HBG1|Hemoglobin F (Fukuyama)HBG1|Fetal hemoglobin|A-gamma type|reduction inHBG1|Hemoglobin F (Dickinson)HBG1|Hemoglobin KenyaHBG1|Hemoglobin F (Kuala Lumpur)HBG1|Hemoglobin F (Jamaica)HBG1|Hemoglobin F (Texas I)HBG1|Hemoglobin F (Siena)HBG1|Hemoglobin F (Kotobuki)HBG1|Hemoglobin F (Bonaire)HBG1|Hemoglobin F (Pordenone)HBG1|Hemoglobin F (Izumi)HBG1|Hemoglobin F (Yamaguchi)HBG1|Hemoglobin F (Calluna)HBG1|Hemoglobin F (Macedonia-I)HBG1|Hemoglobin F (Sardinia)HBG1|HBG1 polymorphismHBG1|Hereditary persistence of fetal hemoglobin|Cretan type|due to mutation in HBG1 promoterHBG1|Hemoglobin F (Iwata)HBG2|Hemoglobin F (Lodz)HBG2|Hemoglobin F (Emirates)HBG2|Hemoglobin F (Sacromonte)HBG2|Hemoglobin F (Macedonia II)HBG2|Hemoglobin F (Cincinnati)HBG2|Hemoglobin F (Waynesboro)HBG2|Hemoglobin F (Carlton)HBG2|Hemoglobin F (Melbourne)HBG2|Hemoglobin F (Lesvos)HBG2|Hemoglobin F (Veleta)HBG2|Hemoglobin F (Calabria)HBG2|Hemoglobin F (Ouled Rabah)HBG2|Hemoglobin F (Clamart)HBG2|Hemoglobin F (Poole)HBG2|Hemoglobin F (Brooklyn)HBG2|Hemoglobin F (Catalonia)HBG2|Hemoglobin F (Onoda)HBG2|Hemoglobin F (Cosenza)HBG2|Hemoglobin F (Urumqi)HBG2|Hemoglobin F (Albaicin)HBG2|Hemoglobin F (Oakland)HBG2|Hemoglobin F (Clarke)HBG2|Hemoglobin F (Granada)HBG2|Hemoglobin F (Austell)HBG2|Hemoglobin Fm (Fort Ripley)HBG2|Hemoglobin F (Shanghai)HBG2|Hemoglobin F (Tokyo)HBG2|Hemoglobin F (Auckland)HBG2|Hemoglobin F (Malaysia)HBG2|Hemoglobin F (Port Royal)HBG2|Hemoglobin F (Malta)HBG2|Hemoglobin Fm-OsakaHBG2|Hemoglobin F (Meinohama)HBG2|Hemoglobin F (Kingston)HBG2|Hemoglobin F (Caltech)HBG2|Hemoglobin F (Columbus-Ga)HBG2|Hemoglobin F (Kennestone)HBG2|Hemoglobin F (la Grange)HBG2|Hereditary persistence of fetal Hemoglobin Due to mutation in HBG2 promoterHBG2|Hemoglobin F (Fuchu)HBG2|Hemoglobin F (Minoo)SERPIND1|Heparin cofactor II deficiencyHNF1A|Diabetes mellitus|type II|susceptibility toHNF1A|Insulin resistance|susceptibility toHNF1A|Hepatic adenomaHNF1A|Maturity-onset diabetes of the young|type IIIHNF1A|Insulin-dependent diabetes mellitusHSPG2|Schwartz-Jampel syndrome|type 1HSPG2|Dyssegmental dysplasia|Silverman-Handmaker typeHK1|Hexokinase deficiency hemolytic anemiaHRG|Thrombophelia due to HRG deficiencyHTN3|His2*1/His2*2 polymorphismHLA-B|Abacavir hypersensitivity|susceptibility toHLA-B|Stevens-Johnson syndrome|susceptibility toHLA-B|Severe cutaneous adverse reaction|susceptibility toHLA-B|Ankylosing spondylitis|susceptibility to|1HLA-C|Psoriasis susceptibility 1HLA-DPB1|Beryllium disease|chronic|susceptibility toHMGCR|Statins|attenuated cholesterol lowering byHOXA1|Athabaskan brainstem dysgenesis syndromeHOXA1|Bosley-Salih-Alorainy syndromeHOXA11|Radioulnar synostosis with amegakaryocytic thrombocytopeniaHOXA13|Guttmacher syndromeHOXA13|Hand-foot-genital syndromeHOXD4|Leukemia|acute lymphoblastic|susceptibility toMSX1|Hypodontia with or without orofacial cleftMSX1|Witkop syndromeMSX1|Orofacial cleft 5MSX1|Oligodontia|autosomal dominantMSX1|Hypodontia|autosomal dominantHOXD10|Vertical talus|congenitalHOXD13|Brachydactyly|type EHOXD13|Brachydactyly-syndactyly syndromeHOXD13|Syndactyly|type VHOXD13|Synpolydactyly 1HOXD13|Synpolydactyly with foot anomaliesMNX1|Currarino syndromeHTT|Huntington diseaseHADHB|Trifunctional protein deficiencyIL7R|Severe combined immunodeficiency|autosomal recessive|T cell-negative|B cell-positive|NK cell-positiveFCGR3A|Neutrophil-specific antigens NA1/NA2FCGR3A|Viral infections|recurrent|susceptibility toFCGR1A|IgG receptor I|phagocytic|familial deficiency ofIGLL1|Agammaglobulinemia|autosomal recessiveFCGR2A|Lupus nephritis|susceptibility toMS4A2|Atopic asthma|susceptibility toITIH1|Inter-alpha-trypsin inhibitor|heavy chain 1 polymorphismIGF2R|Hepatocellular carcinoma|somaticIGF1R|Insulin-like growth factor I|resistance toIGF1|Insulin-like growth factor I deficiencySOD1|Amyotrophic lateral sclerosis 1|autosomal recessiveSOD1|Amyotrophic lateral sclerosis|sporadicSOD1|Amyotrophic lateral sclerosis 1SOD2|Superoxide dismutase 2 polymorphismIGF2|Insulin-like growth factor Ii polymorphismIRS1|Insulin resistance|susceptibility toIRS1|Diabetes mellitus|type IIITGA6|Epidermolysis bullosa with pyloric atresiaITGB4|Epidermolysis bullosa|generalized atrophic benignITGB4|Epidermolysis bullosa of hands and feetITGB4|Epidermolysis bullosa with pyloric atresiaIFNGR2|Atypical mycobacterial infection|familial disseminatedIFNG|Tuberculosis|susceptibility toIFNG|TSC2 angiomyolipomas|renal|modifier ofIFNG|Acquired immunodeficiency syndrome|rapid progression toIRF1|Nonsmall cell lung cancerIRF1|Gastric cancer|somaticIL6|Interleukin 6 polymorphismINSR|Leprechaunism|mount sinai typeINSR|Hyperinsulinemic hypoglycemia|familial|5INSR|Leprechaunism|verona 1 typeINSR|Diabetes mellitus|noninsulin-dependentINSR|Insulin resistanceINSR|Leprechaunism minn 1INSR|Leprechaunism|Winnipeg typeINSR|Rabson-Mendenhall syndromeINSR|Leprechaunism|Geldeimalsen typeINSR|Diabetes mellitus|insulin-resistant|with acanthosis nigricansINSR|Diabetes mellitus|insulin-resistantINSR|Leprechaunism ARK 1|allele 2INSR|Leprechaunism ARK 1|allele 1INSR|Leprechaunism|Helmond typeINSR|LeprechaunismINSR|Leprechaunism|Atlanta 1 typeIL1RN|Gastric cancer risk after H. pylori infectionIL13|Asthma|susceptibility toIL1B|Gastric cancer risk after H. pylori infectionIL2RA|Interleukin 2 receptor|alpha|deficiency ofIL4R|Atopy|resistance toIL4R|Asthma|atopicIL4R|Atopy|susceptibility toJAK2|Polycythemia veraJAK2|Leukemia|acute myelogenousJAK2|Myeloproliferative disorder with erythrocytosisICAM1|Malaria|cerebral|susceptibility toKLK1|Kallikrein|decreased urinary activity ofKRT5|Epidermolysis bullosa simplex|Dowling-Meara type|with severe palmoplantar keratodermaKRT5|Epidermolysis bullosa simplex|Koebner type|with severe palmoplantar keratosisKRT5|Epidermolysis bullosa simplex with migratory circinate erythemaKRT5|Epidermolysis bullosa simplex|Dowling-Meara typeKRT5|Dowling-Degos diseaseKRT5|Epidermolysis bullosa simplex|Koebner typeKRT5|Epidermolysis bullosa simplex|Weber-Cockayne typeKRT5|Epidermolysis bullosa simplex with mottled pigmentationKRT6A|Pachyonychia congenita|type 1KRT6B|Pachyonychia congenita|type 2KRT3|Meesmann corneal dystrophyKRT8|Cirrhosis|cryptogenicKRT13|White sponge nevus; WSNKRT14|Dermatopathia pigmentosa reticularisKRT14|Naegeli-franceschetti-jadassohn syndromeKRT14|Epidermolysis bullosa simplex|Dowling-Meara typeKRT14|Epidermolysis bullosa simplex|Koebner typeKRT14|Epidermolysis bullosa simplex|Weber-Cockayne typeKRT14|Epidermolysis bullosa simplex|recessiveKRT16|Unilateral palmoplantar verrucous nevus|somaticKRT16|Pachyonychia congenita tarda|type 1KRT16|Pachyonychia congenita|type 1KRT16|Nonepidermolytic palmoplantar keratodermaKRT17|Pachyonychia congenita|type 2KRT17|Steatocystoma multiplexKRT18|Cirrhosis|cryptogenicKRT10|Epidermolytic hyperkeratosisKRT10|Nevus|epidermal|epidermolytic hyperkeratotic typeKRT10|Ichthyosis|cyclic|with epidermolytic hyperkeratosisLDHA|Lactate dehydrogenase-A deficiencyLDHB|Lactate dehydrogenase-B deficiencyLAMC2|Epidermolysis bullosa|generalized atrophic benignLAMC2|Epidermolysis bullosa|junctional|Herlitz typeLAMB3|Epidermolysis bullosa|junctional|Herlitz typeLAMB3|Epidermolysis bullosa|generalized atrophic benignLAMB2|Pierson syndromeLAMB2|Nephrotic syndrome|congenital|with or without ocular abnormalitiesLMNA|Emery-Dreifuss muscular dystrophy|autosomal dominantLMNA|Cardiomyopathy|dilated|1ALMNA|Lipodystrophy|familial partial|type 2LMNA|Emery-Dreifuss muscular dystrophy|autosomal recessiveLMNA|Muscular dystrophy|limb-girdle|type 1BLMNA|Charcot-Marie-tooth disease|axonal|type 2B1LMNA|Mandibuloacral dysplasia with type A lipodystrophyLMNA|Lipoatrophy with diabetes|hepatic steatosis|hypertrophic cardiomyopathy|and leukomelanodermic papulesLMNA|Hutchinson-Gilford progeria syndrome|atypicalLMNA|Hutchinson-Gilford progeria syndromeLMNA|Werner syndrome|atypicalLMNA|Restrictive dermopathy|lethalLMNA|Myopathy|early-onset|with progeroid featuresLMNB1|Leukodystrophy|adult-onset|autosomal dominantLMNB2|Lipodystrophy|partial|acquiredRUNX1|Platelet disorder|familial|with associated myeloid malignancyRUNX1|Transient myeloproliferative disorder of down syndromeRUNX1|Rheumatoid arthritis|susceptibility toLIFR|Stuve-Wiedemann/Schwartz-Jampel type 2 syndromePTPRC|Severe combined immunodeficiency|autosomal recessive|T cell-negative|B cell-positive|NK cell-positivePTPRC|Multiple sclerosis|susceptibility toLIPC|Diabetes mellitus|noninsulin-dependent|susceptibility toLIPC|Serum hdl cholesterol level|modifier ofLIPC|Hepatic lipase deficiencyLPA|Lipoprotein(A) deficiency|congenitalLPA|Apolipoprotein(A)|type D polymorphismLPA|Apolipoprotein(A)|type C polymorphismALOX5|Asthma|diminished response to antileukotriene treatment inKCNH2|Long qt syndrome 1/2|digenicKCNH2|Long qt syndrome|bradycardia-inducedKCNH2|Long qt syndrome 2|acquired|susceptibility toKCNH2|Short qt syndrome 1KCNH2|Long qt syndrome 2/3|digenicKCNH2|Long qt syndrome 2LOR|Vohwinkel syndrome with ichthyosisLOR|Erythrokeratodermia|progressive symmetricLHB|Luteinizing hormone polymorphismLHB|Hypogonadism|maleLHB|Infertility|male and femaleLHCGR|Leydig cell adenoma|somatic|with male-limited precocious pubertyLHCGR|Leydig cell hypoplasia|type IILHCGR|Luteinizing hormone/choriogonadotropin receptor|lq variantLHCGR|Precocious puberty|male-limitedLHCGR|Leydig cell hypoplasia with male pseudohermaphroditismLHCGR|MicropenisLHCGR|Hypogonadotropic hypogonadism with micropenisLHCGR|Leydig cell hypoplasiaLEF1|Sebaceous tumors|somaticLTA|Myocardial infarction|susceptibility toLTA|LTA protein production|modulator ofLYZ|Amyloidosis|familial visceralPLOD1|Ehlers-Danlos syndrome|type VIALOX|Lysyl oxidase polymorphismMIF|Rheumatoid arthritis|systemic juvenile|susceptibility toMSR1|Prostate cancerBEST1|Maculopathy|bull's-eyeBEST1|Vitelliform macular dystrophy|adult-onsetBEST1|Best macular dystrophyLIM2|Cataract|cortical pulverulent|late-onsetMIP|Cataract|polymorphic and lamellarME2|Epilepsy|idiopathic generalized|susceptibility toMBL2|Mannose-binding protein deficiencyMPI|Protein-losing enteropathy-hepatic fibrosis syndromeMPI|Congenital disorder of glycosylation|type IBMGP|Keutel syndromeMC3R|Obesity|severe|susceptibility toMC4R|ObesityMC1R|UV-induced skin damage|susceptibility toMC1R|Melanoma|susceptibility toMC1R|Blond/light brown hair and/or fair skinMC1R|Red hair and/or fair skinACAN|Spondyloepiphyseal dysplasia|Kimberley typeLAMA2|Muscular dystrophy|congenital merosin-deficientLAMA2|Muscular dystrophy|congenital|due to partial lama2 deficiencyNME1|NeuroblastomaMTR|Methylcobalamin deficiency|CBLG typeMTR|Neural tube defects|folate-sensitive|susceptibility toMITF|Waardenburg syndrome|type IIAMITF|Tietz albinism-deafness syndromeMAPT|Pick diseaseMAPT|Supranuclear palsy|progressive atypicalMAPT|Supranuclear palsy|progressiveMAPT|Tauopathy and respiratory failureMAPT|Dementia|frontotemporal|with parkinsonismMAPT|Dementia|frontotemporalMTTP|Metabolic syndrome|protection againstMTTP|AbetalipoproteinemiaNDUFS1|Mitochondrial complex I deficiencyCCL2|Spina bifida|susceptibility toCCL2|Human immunodeficiency virus type 1|resistance toCHRNB1|Myasthenic syndrome|congenital|associated with acetylcholine receptor deficiencyCHRNB1|Myasthenic syndrome|congenital|slow-channelMCC|Colorectal cancerMPZ|Charcot-Marie-tooth disease|type 2JMPZ|Charcot-Marie-tooth disease|dominant intermediate DMPZ|Roussy-levy syndromeMPZ|Charcot-Marie-tooth disease|type 1B|with focally folded myelin sheathsMPZ|Charcot-Marie-tooth disease|type 2IMPZ|Dejerine-Sottas syndrome|autosomal dominantMPZ|Charcot-Marie-tooth disease|type 1BMPZ|Neuropathy|congenital hypomyelinating|autosomal dominantMPZ|Dejerine-Sottas syndrome|autosomal recessiveMPZ|Dejerine-Sottas syndrome|sporadicMPL|Amegakaryocytic thrombocytopenia|congenitalMPL|Thrombocytosis|susceptibility toMYF6|Myopathy|centronuclear|mildMYH6|Cardiomyopathy|familial hypertrophicMYH6|Atrial septal defect 3MYH6|Myosin|cardiac|heavy chain variantMYH3|Arthrogryposis|distal|type 2AMYH3|Arthrogryposis|distal|type 2BMYH2|Inclusion body myopathy 3MYH11|Aortic aneurysm|familial thoracic 4MYH7|Cardiomyopathy|dilated|1SMYH7|Cardiomyopathy|hypertrophic|midventricular|digenicMYH7|Cardiomyopathy|familial hypertrophic|1MYH7|Myopathy|myosin storageMYH7|Laing distal myopathyMYH9|May-Hegglin anomalyMYH9|Sebastian syndromeMYH9|Fechtner syndromeMYH9|Alport-like syndrome with macrothrombocytopeniaMYH9|Epstein syndromeMYH9|Deafness|autosomal dominant nonsyndromic sensorineural 17MYO5A|Griscelli syndrome|type 3MYO5A|Griscelli syndrome|type 1MYL2|Cardiomyopathy|familial hypertrophic|10MYL2|Cardiomyopathy|hypertrophic|mid-left ventricular chamber type|2MYL3|Cardiomyopathy|familial hypertrophic|8NDUFV1|Mitochondrial complex I deficiencyIL12B|Asthma|severe|susceptibility toIL12B|Bcg and salmonella infection|disseminatedNEB|Nemaline myopathy 2PCSK1|Proprotein convertase 1 deficiencyNF1|Neurofibromatosis-noonan syndromeNF1|Pseudarthrosis|tibial|in neurofibromatosisNF1|Neurofibromatosis|type INF1|Watson syndromeNF1|Neurofibromatosis|familial spinalNF1|Leukemia|juvenile myelomonocyticNEFH|Amyotrophic lateral sclerosis|susceptibility toNEFL|Charcot-Marie-tooth disease|axonal|type 2ENEFL|Charcot-Marie-tooth disease|type 1FNPY|Neuropeptide Y polymorphismCXCR4|Whim syndromeNOS3|Coronary spasms|susceptibility toNOS2|Malaria|resistance toNOS1|Pyloric stenosis|infantile hypertrophic|susceptibility toSNCA|Dementia|lewy bodySNCA|Parkinson disease 4|autosomal dominant lewy bodySNCA|Parkinson disease 1SLC6A2|Orthostatic intoleranceNFKBIA|Ectodermal dysplasia|anhidrotic|with T-cell immunodeficiency|autosomal dominantNPM1|Leukemia|acute myeloidPNP|Nucleoside phosphorylase deficiencyLEP|Obesity|severe|due to leptin deficiencyLEP|Obesity|morbid|with hypogonadismAKT2|Diabetes mellitus|type IIBRAF|Melanoma|malignant|somaticBRAF|Colorectal cancer|somaticBRAF|Colon cancer|somaticBRAF|Nonsmall cell lung cancer|somaticBRAF|Adenocarcinoma of lung|somaticBRAF|Lymphoma|non-HodgkinBRAF|Cardiofaciocutaneous syndromeRET|Hirschsprung disease|susceptibility toRET|Hirschsprung diseaseRET|Multiple endocrine neoplasia|type IIBRET|Thyroid carcinoma|familial medullaryRET|Multiple endocrine neoplasia|type IIARET|Multiple endocrine neoplasia|type IIA|with cutaneous lichen amyloidosisRET|Multiple endocrine neoplasia|type IIA|without pheochromocytomaRET|Hirschsprung disease|severeRET|Multiple endocrine neoplasia|type IIA|with hirschsprung diseaseRET|Central hypoventilation syndrome|congenital|with hirschsprung diseaseRET|Central hypoventilation syndrome|congenitalCSF1R|Myeloid malignancy|predisposition toMDM2|Accelerated tumor formation|susceptibility toNRAS|Thyroid carcinoma|follicularNRAS|Colorectal cancerMYCN|Feingold syndromeMET|Autism spectrum disorder|susceptibility to|1MET|Renal cell carcinoma|papillary|sporadicMET|Renal cell carcinoma|papillary|2MET|Hepatocellular carcinoma|childhood typeERBB2|Erbb2 polymorphismERBB2|Adenocarcinoma of lung|somaticERBB2|Glioblastoma|somaticERBB2|Gastric cancer|somaticERBB2|Ovarian carcinoma|somaticKIT|Germ cell tumorKIT|PiebaldismKIT|Mast cell leukemiaKIT|Mast cell disease|systemicKIT|Gastrointestinal stromal tumor|somaticKIT|Piebaldism with sensorineural deafnessKIT|Leukemia|acute myeloidKIT|Gastrointestinal stromal tumor|familialKIT|Mastocytosis|sporadic|childhood-onsetFGF3|Deafness|congenital|with inner ear agenesis|microtia|and microdontiaGLI3|Postaxial polydactyly|type A1/BGLI3|Preaxial polydactyly|type IVGLI3|Acrocallosal syndromeGLI3|Greig cephalopolysyndactyly syndromeGLI3|Pallister-Hall syndromeWNT3|Tetra-Amelia|autosomal recessiveODC1|Colonic adenoma recurrence|reduced risk ofPAX2|Renal hypoplasia|isolatedPAX2|Renal-Coloboma syndromePAX8|PAX8 polymorphismPAX8|Hypothyroidism|congenital|nongoitrous|2PAX9|OligodontiaPAX9|Hypodontia|autosomal dominantSPINK1|Pancreatitis|chronicSPINK1|Tropical calcific pancreatitisPTH|Hypoparathyroidism|familial isolatedCCND1|Von Hippel-Lindau disease|modification ofPTH1R|Enchondromatosis|Ollier typePTH1R|Metaphyseal chondrodysplasia|Murk Jansen typePTH1R|Chondrodysplasia|Blomstrand typePON1|Paraoxonase activity|elevatedPON1|Coronary artery disease|susceptibility toPRB3|PRB3M(null)PRB3|PRB3S(cys)PEPD|Prolidase deficiencyTAP1|Peptide transporter PSF1 polymorphismTAP1|Bare lymphocyte syndrome|type ITAP1|TAP1 deficiency|somaticTAP2|Wegener-like granulomatosisTAP2|Peptide transporter PSF2 polymorphismTAP2|Bare lymphocyte syndrome|type IPRF1|Hemophagocytic lymphohistiocytosis|familial|2PRPH|Amyotrophic lateral sclerosis|susceptibility toPEX2|Refsum disease|infantile formPEX2|Zellweger syndrome 3PPARA|Hyperapobetalipoproteinemia|susceptibility toABCB1|MDR1 polymorphismABCB1|Crohn disease|susceptibility toABCB1|Colchicine resistanceABCB4|Cholestasis|intrahepatic|of pregnancyABCB4|Gallbladder disease 1ABCB4|Cholestasis|progressive familial intrahepatic 3ALPL|HypophosphatasiaALPL|OdontohypophosphatasiaALPL|Hypophosphatasia|childhoodALPL|Hypophosphatasia|infantilePIK3CA|Breast cancer|somaticPIK3CA|Ovarian cancer|epithelial|somaticPIK3CA|Colorectal cancer|somaticGPI|Hemolytic anemia|chronic|due to GPI deficiencyGPI|Hemolytic anemia|chronic|and neurologic deficits|due to GPI deficiencyPLN|Cardiomyopathy|dilated|1pPLA2G2A|Colorectal cancer|sporadicMTHFD1|Spina bifida|folate-sensitive|susceptibility toMTHFD1|Neural tube defects|folate-sensitive|susceptibility toPHKG2|Glycogenosis|hepatic|autosomalPHKG2|Cirrhosis due to liver phosphorylase kinase deficiencyPSPH|Phosphoserine phosphatase deficiencyPHKB|Phosphorylase kinase deficiency of liver and muscle|autosomal recessivePOU1F1|Pituitary hormone deficiency|combinedJUP|Naxos diseaseENPP1|Insulin resistance|susceptibility toENPP1|Arterial calcification|generalized|of infancyENPP1|Obesity|susceptibility toENPP1|Diabetes mellitus|noninsulin-dependent|susceptibility toPLG|Thrombophilia due to plasminogen Nagoya IPLG|Thrombophilia due to plasminogen TochigiPLG|Thrombophilia due to plasminogen deficiencyPLG|Conjunctivitis|LigneousPLG|Plasminogen Kanagawa-ISERPINE1|Plasminogen activator inhibitor 1 deficiencySERPINE1|Plasminogen activator inhibitor polymorphismPECAM1|Platelet-endothelial cell adhesion molecule 1 polymorphismITGB3|Glanzmann thrombastheniaITGB3|Pen(A)/Pen(B) alloantigen polymorphismITGB3|Mo platelet-specific antigen systemITGB3|Pl(A) platelet-specific antigen systemITGB3|CA/TU platelet alloantigen systemPDGFRA|Gastrointestinal stromal tumor|somaticPDGFRA|Hypereosinophilic syndrome|idiopathic|resistant to imatinibCD36|Platelet glycoprotein iv deficiencyGP9|Bernard-Soulier syndrome|type CSELP|Atopy|susceptibility toSELP|Selectin p polymorphismPIGR|IgA nephropathy|susceptibility toPKD2|Polycystic kidney disease 2POLG|Progressive external ophthalmoplegia with mitochondrial dna deletions|autosomal dominant|1POLG|Progressive external ophthalmoplegia with mitochondrial dna deletions|autosomal recessivePOLG|Sensory ataxic neuropathy|dysarthria|and ophthalmoparesisPOLG|Mitochondrial neurogastrointestinal encephalopathy syndrome without leukoencephalopathyPOLG|Alpers syndromePOLG|Spinocerebellar ataxia with epilepsyAPC|Hepatocellular carcinoma|somatic|in adenomatous polyposis coliAPC|Gastric cancer|somaticAPC|Adenomatous polyposis coliAPC|Colorectal cancerAPC|Gardner syndromeAPC|Turcot syndrome with medulloblastomaAPC|Adenomatous polyposis coli|early-onsetAPC|Adenomatous polyposis coli|attenuatedAPC|Adenoma|periampullaryAPC|Hepatoblastoma|sporadicAPC|Desmoid disease|hereditaryAPC|Colorectal cancer|familial|ashkenazi typeHMBS|Porphyria|acute intermittent|nonerythroid variantHMBS|Porphyria|acute intermittentUROD|Porphyria cutanea tardaUROD|Porphyria|hepatoerythropoieticKCNE1|Long qt syndrome 5|acquired|susceptibility toKCNE1|Jervell and Lange-Nielsen syndromeKCNE1|Long qt syndrome 5TTR|Amyloidosis|systemic|neuropathic|and leptomeningealTTR|Amyloidosis|leptomeningealTTR|Amyloidosis|cardiac or Denmark typeTTR|Amyloid cardiomyopathyTTR|Transthyretin acidic Asn-90 variantTTR|Prealbumin ChicagoTTR|Amyloid polyneuropathy|Polish-AmericanTTR|Amyloid polyneuropathyTTR|Amyloid polyneuropathy|Rukavina or Indiana typeTTR|Amyloid polyneuropathy|German-American typeTTR|Amyloid polyneuropathy|Appalachian typeTTR|Amyloidosis|oculoleptomeningealTTR|Transthyretin polymorphismTTR|Amyloid polyneuropathy|Mahloudji or Maryland typeTTR|Amyloidosis|familialTTR|Amyloid polyneuropathy|Jewish typeTTR|Hyperthyroxinemia|familial dysprealbuminemic euthyroidTTR|Amyloidosis|SenileTTR|Amyloid polyneuropathy|Andrade or Portuguese typeTTR|Transthyretin Ser-6 polymorphismTTR|Carpal tunnel syndrome|familialPRNP|Fatal familial insomniaPRNP|Creutzfeldt-Jakob diseasePRNP|Gerstmann-Straussler diseasePRNP|Prion disease|susceptibility toPRNP|Spongiform encephalopathy with neuropsychiatric featuresPRNP|Creutzfeldt-Jakob disease|protection againstPHB|Breast cancer|sporadicINS|Insulin WakayamaINS|Insulin ChicagoINS|Hyperproinsulinemia|familialPSAP|Metachromatic leukodystrophy due to SAP1 deficiencyPSAP|Combined SAP deficiencyPSAP|Gaucher disease|atypical|due to SAP2 deficiencyPOMC|Obesity|early-onset|susceptibility toPOMC|Proopiomelanocortin deficiencyPROC|Protein C deficiency|type IPROC|Protein C Vermont 1PROC|Protein C Vermont 2PROC|Protein C NagoyaPROC|Protein C deficiencyPROC|Protein C deficiency|autosomal recessivePROC|Protein C TochigiPROC|Thrombophilia due to Protein C deficiencyMAP2K1|Cardiofaciocutaneous syndromePTPN11|Noonan syndrome 1PTPN11|Leopard syndromePTPN11|Noonan syndromePTPN11|Leukemia|juvenile myelomonocyticPROS1|Protein S HeerlenPROS1|Protein S deficiency|type IPROS1|Protein S TokushimaPROS1|Protein S deficiencyPTPN1|Insulin resistance|susceptibility toF2|Prothrombin Denver IIF2|Prothrombin Denver IIF2|DysprothrombinemiaF2|Prothrombin Himi-IF2|Prothrombin Quick IF2|Prothrombin Saint-DenisF2|Prothrombin Quick IIF2|Prothrombin TokushimaF2|Prothrombin barcelonaF2|Prothrombin type 3F2|HyperprothrombinemiaF2|HypoprothrombinemiaFGFR2|Craniosynostosis|nonsyndromic unicoronalFGFR2|Ladd syndromeFGFR2|Apert syndromeFGFR2|Pfeiffer syndromeFGFR2|Jackson-Weiss syndromeFGFR2|Crouzon syndromeFGFR2|Pfeiffer syndrome|type IIIFGFR2|Beare-Stevenson cutis gyrata syndromeFGFR2|Pfeiffer syndrome variantFGFR2|Saethre-Chotzen syndromeZAP70|Selective T-cell defect|immunodeficiency due toPRKCA|Pituitary tumor|invasive|somaticPRKCG|Spinocerebellar ataxia 14FECH|Protoporphyria|erythropoietic|modifier ofFECH|Protoporphyria|erythropoieticFECH|Protoporphyria|erythropoietic|autosomal recessiveCHRND|Myasthenic syndrome|congenital|slow-channelCHRND|Myasthenic syndrome|congenital|fast-channelEPB42|Spherocytosis|hereditary|due to protein 4.2-HammersmithEPB42|Spherocytosis|hereditary|Japanese typeEPB42|Hemolytic anemia|hereditary|due to protein 4.2-TozeurEPB42|Hemolytic anemia|hereditary|due to protein 4.2-LisboaEPB42|Spherocytosis|hereditary|due to protein 4.2-NotameMAF|Cataract|pulverulent|juvenile-onsetMAF|Cataract|congenital|Cerulean type|4BCHE|BCHE|J variantBCHE|BCHE|fluoride 1BCHE|BCHE|silent 1BCHE|Butyrylcholinesterase deficiencyBCHE|BCHE|fluoride 2BCHE|Apnea|postanesthetic|due to BCHE|atypical-1BCHE|BCHE johannesburgBCHE|BCHE|H variantBCHE|BCHE|K variantBCHE|BCHE CynthianaBCHE|BCHE NewfoundlandBCHE|Butyrylcholinesterase deficiency|fluoride-resistant|Japanese typeSFTPC|Pneumonitis|desquamative interstitialSFTPC|Idiopathic pulmonary fibrosis|familialSFTPC|Surfactant Protein C deficiencySFTPC|Pulmonary alveolar proteinosisSFTPA1|Pulmonary fibrosis|idiopathic|susceptibility toSFTPB|Pulmonary alveolar proteinosis|congenital|with misalignment of lung vesselsSFTPB|Pulmonary alveolar proteinosis|congenitalPDHB|Pyruvate dehydrogenase E1-beta deficiencyPRPH2|Retinitis pigmentosa 7|digenicPRPH2|Retinitis pigmentosa 7PRPH2|Foveomacular dystrophy|adult-onset|with choroidal neovascularizationPRPH2|Macular dystrophy|patternedPRPH2|Retinitis pigmentosa 7|with bull's-eye maculopathyPRPH2|Fundus flavimaculatusPRPH2|Macular dystrophy|butterfly-shaped pigmentaryPRPH2|Retinitis punctata Albescens|autosomal dominantPRPH2|Macular dystrophyPRPH2|Vitelliform macular dystrophy|adult-onsetRAG1|Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion|severe cytomegalovirus infection|and autoimmunityRAG1|Severe combined immunodeficiency|B cell-negativeRAG1|Recombination activating gene 1 polymorphismRAG1|Omenn syndromeRAD51|Breast cancer|familialRAD51|Breast cancer|susceptibility to|in BRCA1 and BRCA2 carriersREN|Renal tubular dysgenesisREN|Hyperproreninemia|familialRPE65|Leber congenital amaurosis|type IIRPE65|Retinitis pigmentosa 20PDE6A|Retinitis pigmentosa|autosomal recessivePDE6B|Night blindness|congenital stationary|autosomal dominant 2PDE6B|Retinitis pigmentosa|autosomal recessiveRLBP1|Retinitis punctata AlbescensRLBP1|Bothnia retinal dystrophyRLBP1|Newfoundland rod-cone dystrophyRLBP1|Retinitis pigmentosa|RLBP1-relatedRB1|Retinoblastoma|incomplete penetrance typeRB1|Small cell cancer of the lungRB1|RetinoblastomaRB1|PineoblastomaRBP4|Retinol-binding protein deficiencyRHAG|Rh-null hemolytic anemia|regulator typeRHAG|Rh-mod syndromeRHO|Retinitis pigmentosa 4RHO|Retinitis pigmentosa|autosomal recessiveRHO|Night blindness|congenital stationary|autosomal dominant 1GRK1|Oguchi disease 2RPIA|Ribose 5-phosphate isomerase deficiencyRNASEL|Prostate cancer|hereditary|1RNASEL|Prostate cancer|susceptibility toROM1|Retinitis pigmentosa|peripherin-related|digenicRYR1|Central core disease|autosomal recessiveRYR1|Minicore myopathy with external ophthalmoplegiaRYR1|Malignant hyperthermia|susceptibility to|1RYR1|Central core diseaseRYR2|Arrhythmogenic right ventricular dysplasia|familial|2RYR2|Ventricular tachycardia|stress-induced polymorphic|autosomal dominantAHCY|Hypermethioninemia with deficiency of s-adenosylhomocysteine hydrolaseSAG|Oguchi disease 1FUT2|Secretor/nonsecretor polymorphism|Japanese typeFUT2|Secretor/nonsecretor polymorphismFUT2|Bombay phenotype|classicSPR|Dystonia|DOPA-responsive|due to sepiapterin reductase deficiencyHTR2A|Major depressive disorder|response to citalopram therapy inHTR2A|Schizophrenia|susceptibility toHTR2A|Obsessive-compulsive disorder|susceptibility toSLC6A4|Serotonin transporter activity|increased/decreasedATP1A2|Migraine|familial hemiplegic|2ATP1A2|Alternating hemiplegia of childhoodATP1A3|Dystonia 12SLC5A1|Glucose/galactose malabsorptionSCN1A|Generalized epilepsy with febrile seizures plus|type 2SCN1A|Myoclonic epilepsy|severe|of infancySCN1A|Epilepsy|intractable childhood|with generalized tonic-clonic seizuresSCN1A|Migraine|familial hemiplegic|3SCN1A|Febrile convulsions|familial|3SSTR5|AcromegalySOS1|Fibromatosis|gingival|1SOS1|Noonan syndromeSPTA1|Spectrin st claude|poikilocytic anemia due toSPTA1|Pyropoikilocytosis|hereditarySPTA1|Elliptocytosis|rhesus-unlinked typeSPTA1|Spherocytosis|autosomal recessiveSPTA1|Spectrin LepraSPTA1|Spectrin PragueSPTB|ElliptocytosisSPTB|Spectrin TlemcenSPTB|Spectrin Saint ChamondSPTB|Spectrin ProvidenceSPTB|Spherocytosis|autosomal dominantSPTB|Spectrin CagliariSPTB|Anemia|neonatal hemolytic|fatal and near-fatalSPTB|Elliptocytosis due to spectrin CosenzaSPTB|Elliptocytosis due to spectrin PromissaoANK1|Spherocytosis|hereditary|due to ankyrin FlorianopolisANK1|Spherocytosis|hereditary|due to ankyrin-RakovnikANK1|Spherocytosis|autosomal recessiveANK1|Spherocytosis|hereditary|due to ankyrin Saint-Etienne 2ANK1|Spherocytosis|hereditary|due to ankyrin Saint-Etienne 1SCP2|Leukoencephalopathy with dystonia and motor neuropathy|SCPX-deficientNR5A1|Sex reversal|XY|with adrenal failureNR5A1|Adrenocortical insufficiency without ovarian defectNR5A1|Sex reversal|XY|without adrenal failureMMP3|Coronary heart disease|susceptibility toSDHB|PheochromocytomaSDHB|Paragangliomas 4SOD3|Superoxide dismutase|elevated extracellularSURF1|Leigh syndrome due to cytochrome C oxidase deficiencyCD247|Immunodeficiency due to defect in cd3-zeta|somaticCD247|Immunodeficiency due to defect in cd3-zetaCD3D|Severe combined immunodeficiency|autosomal recessive|T cell-negative|B cell-positive|NK cell-positiveCD8A|Cd8 deficiency|familialCCL5|Human immunodeficiency virus type 1|delayed disease progression with infection byCCL5|Human immunodeficiency virus type 1|rapid disease progression with infection byTERT|Aplastic anemia|susceptibility toTERT|Coronary artery disease|susceptibility toTDGF1|Forebrain defectsTPMT|Thiopurine S-methyltransferase deficiencyTHBD|Thrombophilia due to thrombomodulin defectTHBD|Myocardial infarction|susceptibility toTBXA2R|Bleeding disorder due to defective thromboxane A2 receptorTK2|Mitochondrial dna depletion syndrome|myopathic formTMPO|Cardiomyopathy|dilated|1TTG|Goiter|adenomatousTG|Autoimmune thyroid disease|susceptibility to|3TG|Goiter|familial|with hypothyroidism|autosomal recessiveTG|Goiter|nonendemic simpleTIMP3|Sorsby fundus dystrophy|Lavia typeTIMP3|Sorsby fundus dystrophyPRKAR1A|Carney complex|type 1PRKAR1A|Primary pigmented nodular adrenocortical disease 1PRKAR1A|Myxoma|intracardiacPRKAR1A|Adrenocortical tumor|somaticTTN|Hereditary myopathy with early respiratory failureTTN|Cardiomyopathy|familial hypertrophic|9TTN|Cardiomyopathy|dilated|1gTTN|Tibial muscular dystrophy|tardiveZEB1|Corneal dystrophy|posterior polymorphous|3TEAD1|Sveinsson choreoretinal atrophyABL1|Leukemia|Philadelphia chromosome-positive|resistant to imatinibABL1|Chronic myeloid leukemia|resistant to imatinibTF|AtransferrinemiaTF|Iron deficiency anemia|susceptibility toTF|Transferrin variant CHITF|Transferrin variant B2TF|Transferrin variant D1TF|Transferrin variant C1/C2TF|Transferrin variant BVHRAS|Thyroid carcinoma|follicular|somaticHRAS|Costello syndromeHRAS|Bladder cancer|somaticPDGFB|MeningiomaPDGFB|Dermatofibrosarcoma protuberansKRAS|Bladder cancer|transitional cell|somaticKRAS|Pilocytic astrocytoma|somaticKRAS|Cardiofaciocutaneous syndromeKRAS|Noonan syndrome 3KRAS|Costello syndromeKRAS|Breast adenocarcinoma|somaticKRAS|Lung cancer|somaticKRAS|Lung cancer|squamous cell|somaticKRAS|Gastric cancer|somaticKRAS|Pancreatic carcinoma|somaticKRAS|Leukemia|acute myelogenousMYC|Burkitt lymphomaSRC|Colon cancer|advancedTGFB1|Camurati-Engelmann diseaseTGFB1|Cystic fibrosis lung disease|modifier ofTGFBR1|Loeys-Dietz syndromeTGFBR1|Loeys-Dietz syndrome|type IITGFBR1|Aortic aneurysm|thoracic 5TGFBR1|Furlong syndromeTGFBR2|Esophageal cancerTGFBR2|Loeys-Dietz syndromeTGFBR2|Aortic aneurysm|familial thoracic 3TGFBR2|Loeys-Dietz syndrome|type IITGFBR2|Loeys-Dietz syndrome|type ITGFBR2|Colon cancer|hereditary nonpolyposis|type 6|somaticTGFBR2|Marfan syndrome|type IITGFBR2|Colorectal cancer|hereditary nonpolyposis|type 6TGM1|Ichthyosiform erythroderma|congenital|nonbullous|1TGM1|Self-healing collodion babyTGM1|Ichthyosis|lamellar|autosomal recessiveTGM1|Ichthyosis|lamellar|autosomal recessive|with sparing of limbsTGFB3|Arrhythmogenic right ventricular dysplasia 1TPI1|Triosephosphate isomerase manchesterTPI1|Triosephosphate isomerase deficiencyOPN1SW|TritanopiaTPM1|Cardiomyopathy|familial hypertrophic|3TPM3|Nemaline myopathy 1TNNT1|Nemaline myopathy|5TNNI2|Arthrogryposis|distal|type 2BTNNT2|Cardiomyopathy|dilated|1DTNNT2|Cardiomyopathy|familial hypertrophic|2TSC2|Lymphangioleiomyomatosis|somaticTSC2|Tuberous sclerosis 2TNF|Malaria|cerebral|susceptibility toTNF|Alzheimer disease|protection againstTNF|Septic shock|susceptibility toTNF|Vascular dementia|susceptibility toTNF|TNF receptor binding|alteredTP53|Adrenocortical carcinoma|pediatricTP53|Choroid plexus papillomaTP53|Colon tumors|concurrent multiple primaryTP53|Histiocytoma|malignant fibrousTP53|OsteosarcomaTP53|HepatoblastomaTP53|Li-Fraumeni syndromeTP53|Breast cancerTP53|Nasopharyngeal carcinomaTP53|Hepatocellular carcinomaTP53|Li-Fraumeni syndrome 1TP53|Tp53 polymorphismTP53|Multiple malignancy syndromeTP53|Pancreatic cancerTNFRSF1A|Periodic fever|familial|autosomal dominantTH|Extrapyramidal movement disorderTH|Segawa syndrome|autosomal recessiveKDR|Hemangioma|capillary infantile|somaticNTRK1|Thyroid carcinoma|familial medullaryNTRK1|Insensitivity to pain|congenital|with anhidrosisUCHL1|Parkinson disease|resistance toUCHL1|Parkinson diseaseDPAGT1|Congenital disorder of glycosylation|type IjUSF1|Hyperlipidemia|familial combined|susceptibility toUNG|Immunodeficiency with hyper-IgM|type 5PLAU|Alzheimer disease|late-onset|susceptibility toSCGB1A1|Uteroglobin polymorphismCDH1|Gastric cancerCDH1|Prostate cancer|susceptibility toCDH1|Cleft lip with or without cleft palate|with gastric cancer|familial diffuseCDH1|Gastric cancer|familial diffuseCDH1|Ovarian carcinoma|somaticCDH1|Endometrial carcinoma|somaticCDH1|Breast cancer|lobular|somaticATP6V1B1|Renal tubular acidosis|distal|with progressive deafnessVEGFA|Diabetic retinopathy|NIDDM-related|susceptibility toVEGFA|Atherosclerosis|susceptibility toAVP|Diabetes insipidus|familial central|autosomal recessiveAVP|Diabetes insipidus|familial centralVLDLR|Cerebellar hypoplasia|VLDLR-associatedVHL|Polycythemia|Chuvash typeVHL|Renal cell carcinoma with paraneoplastic erythrocytosisVHL|Erythrocytosis|familial|2VHL|Hemangioblastoma|sporadic cerebellarVHL|Renal cell carcinomaVHL|Von Hippel-Lindau syndromeVHL|PheochromocytomaVWF|Von Willebrand disease|type IIIVWF|Von Willebrand disease|type IVWF|Von Willebrand factor polymorphismVWF|Von Willebrand disease|type IIAVWF|Von Willebrand factor Normandy 3VWF|Von Willebrand factor Normandy 2VWF|Von Willebrand factor Normandy 1VWF|Von Willebrand disease|type IIBVWF|Von Willebrand disease|type IIMVWF|Von Willebrand disease|type IICVWF|Von Willebrand disease|type IIDXBP1|Bipolar disorder|susceptibility toACADVL|VLCAD deficiencyHSD3B2|3-@beta-hydroxysteroid dehydrogenase|type II|deficiency ofCYP21A2|Hyperandrogenism|nonclassic type|due to 21-hydroxylase deficiencyCYP21A2|Adrenal hyperplasia|congenital|due to 21-hydroxylase deficiency|salt-wasting typeCYP21A2|Adrenal hyperplasia|congenital|due to 21-hydroxylase deficiency|late-onset formCYP21A2|Adrenal hyperplasia|congenital|due to 21-hydroxylase deficiencyCYP21A2|21-@hydroxylase polymorphismCYP21A2|Adrenal hyperplasia|congenital|due to 21-hydroxylase deficiency|classic typeCYP21A2|Adrenal hyperplasia|congenital|due to 21-hydroxylase deficiency|nonclassic typeCYP11B1|Glucocorticoid-remediable aldosteronismCYP11B1|Adrenal hyperplasia|congenital|due to steroid 11-beta-hydroxylase deficiencyCYP17A1|17-@alpha-hydroxylase/17|20-lyase deficiency|combined partialCYP17A1|17-@alpha-hydroxylase/17|20-lyase deficiency|combined completeCYP17A1|17|20-@lyase deficiency|isolatedOCA2|Eye color|blue/nonblueOCA2|Albinism|ocular|autosomal recessiveOCA2|Albinism|oculocutaneous|type IIACAT1|3-@ketothiolase deficiencyARG1|ArgininemiaASL|Argininosuccinic aciduriaAGA|Aspartylglucosaminuria|Finnish typeAGA|AspartylglucosaminuriaBBS1|Bardet-Biedl syndrome 1BBS1|Bardet-Biedl syndrome 7MCCC1|3-@methylcrotonyl-CoA carboxylase 1 deficiencyMCCC2|3-@methylcrotonyl-CoA carboxylase 2 deficiencySLC25A20|Carnitine-acylcarnitine translocase deficiencyCFI|Complement factor I deficiencyC6|C6 deficiency|subtotalC6|C6 A/B polymorphismC6|C6 deficiency|totalC7|C7 deficiencyHSD11B2|Apparent mineralocorticoid excess|hypertension due toHSD11B2|Hypertension|mild low-reninDPYS|DihydropyrimidinuriaBPGM|Bisphosphoglyceromutase deficiency|hemolytic anemia due toSI|Sucrase-isomaltase deficiency|congenitalDBH|DOPAmine beta-hydroxylase activity|plasmaDBH|DOPAmine beta-hydroxylase deficiencyF5|Factor V deficiency|hemorrhagic diathesis due toF5|Factor V deficiency|severeF5|Thrombophilia due to deficiency of cofactor for activated protein c|liverpool typeF5|Thrombophilia due to deficiency of cofactor for activated protein c|Leiden typeF5|ThrombophiliaF5|Factor V CambridgeF5|Factor V deficiencyF7|Myocardial infarction|decreased susceptibility toF7|Factor VII deficiencyF7|Factor VII HarrowF7|Factor VII MieF7|Factor VII deficiency|lethalF10|Factor X TokyoF10|Factor X deficiency|autosomal dominantF10|Factor X Santo DomingoF10|Factor X VorarlbergF10|Factor X FriuliF10|Factor X San Antonio-2F10|Factor X San Antonio-1F10|Factor X deficiencyF10|Factor X StocktonF10|Factor X St. Louis-2FANCC|Fanconi anemia|complementation group CFANCC|Fanconi anemia|complemementation group CFANCD2|Fanconi anemia|complementation group D2ASAH1|Farber lipogranulomatosisKNG1|Kininogen deficiency|totalKNG1|High molecular weight kininogen deficiencyKNG1|Fitzgerald traitKLKB1|Prekallikrein deficiencyALDOB|Fructose intoleranceFBP1|Fructose-1|6-bisphosphatase deficiencyFUCA1|FucosidosisFUCA1|Fu1/Fu2 polymorphismGLB1|GM1 gangliosidosis|late infantile typeGLB1|GM1-gangliosidosis|late infantile/juvenile typeGLB1|GM1-gangliosidosis|adult/chronic typeGLB1|GM1-gangliosidosis|infantile typeGLB1|Morquio syndrome|type BGLB1|GM1 gangliosidosis|infantile typeGP1BA|Bernard-Soulier syndrome|type A|autosomal dominantGP1BA|Von Willebrand disease|platelet-typeGP1BA|Bernard-Soulier syndrome|type AGP1BA|Platelet glycoprotein ib polymorphismGCDH|Glutaric acidemia IETFDH|Glutaric acidemia IICETFA|Glutaric aciduria IIAPCCA|Propionic acidemiaPCCB|Propionic acidemiaG6PC|Glycogen storage disease IAGBE1|Glycogen storage disease IV|fatal perinatal neuromuscularGBE1|Glycogen storage disease IV|combined hepatic and myopathicGBE1|Glycogen storage disease IV|childhood neuromuscularGBE1|Glycogen storage disease IV|congenital neuromuscularGBE1|Glycogen storage disease IV|classic hepaticGBE1|Glycogen storage disease IV|nonprogressive hepaticPYGM|Mcardle diseasePYGL|Glycogen storage disease VIPFKM|Glycogen storage disease VIICYBA|Granulomatous disease|chronic|autosomal recessive|cytochrome B-negativeCYBA|Cyba polymorphism 242c-tNCF2|Granulomatous disease|chronic|autosomal recessive|cytochrome B-positive|type IIHFE|Porphyria variegataHFE|HFE polymorphismHFE|HFE intronic polymorphismHFE|HemochromatosisCBS|Thrombosis|hyperhomocysteinemicCBS|Homocystinuria|pyridoxine-responsiveCBS|HomocystinuriaCPS1|Pulmonary hypertension|familial persistent|of the newborn|susceptibility toCPS1|Carbamoyl phosphate synthetase i deficiencyGLDC|Glycine encephalopathyAMT|Glycine encephalopathyGCSH|Glycine encephalopathyNAT2|Acetylation|slowOXCT1|Succinyl-CoA:3-oxoacid coa transferase deficiencyPDHX|Pyruvate dehydrogenase e3-binding protein deficiencyHMGCL|HMG-CoA lyase deficiencyDLD|Maple syrup urine disease|type IIIMAN2B1|Alpha-mannosidosis|type IIMAN2B1|Alpha-mannosidosis|type IMANBA|beta-mannosidosisBCKDHA|Maple syrup urine disease|classic|type IABCKDHA|Maple syrup urine disease|intermediate|type IADBT|Maple syrup urine disease|thiamine-responsive|type IIDBT|Maple syrup u