qGenEx CA. Panel Cardiología

Dentro de los servicios qGenEx, los paneles de exoma dirigido permiten restringir el estudio a un grupo de genes concreto según especialidad.

qGenEx CA, analiza 347 genes asociados a enfermedades del corazón usando secuenciación de exoma completo mediante NGS.

Utiliza el buscador para encontrar el grupo de genes relacionados con la patología que te interesa incluidos en el panel:
GeneMedian coverage% covered > 10x% covered > 20xAssociated Phenotype description and OMIM disease ID 
AARS2132.90.990.98Combined oxidative phosphorylation deficiency 8614096
AARS2132.90.990.98Leukoencephalopathy, progressive, with ovarian failure,615889
ABCC6113.80.930.92Arterial calcification, generalized, of infancy, 2614473
ABCC6113.80.930.92Pseudoxanthoma elasticum,264800
ABCC6113.80.930.92Pseudoxanthoma elasticum, forme fruste,177850
ABCC9177.110.99Atrial fibrillation, familial, 12614050
ABCC9177.110.99Cardiomyopathy, dilated, 1O,608569
ABCC9177.110.99Hypertrichotic osteochondrodysplasia,239850
ACAN1290.920.86Osteochondritis dissecans, short stature, and early-onset osteoarthritis,165800
ACAN1290.920.86Spondyloepimetaphyseal dysplasia, aggrecan type,612813
ACAN1290.920.86Spondyloepiphyseal dysplasia, Kimberley type,608361
ACE129.50.930.91Renal tubular dysgenesis,267430
ACE129.50.930.91[Angiotensin I-converting enzyme, benign serum increase]267430
ACE129.50.930.91{Microvascular complications of diabetes 3},612624
ACE129.50.930.91{Myocardial infarction, susceptibility to}612624
ACE129.50.930.91{SARS, progression of}612624
ACE129.50.930.91{Stroke, hemorrhagic},614519
ACSF3146.510.99Combined malonic and methylmalonic aciduria,614265
ACTA2166.510.99Aortic aneurysm, familial thoracic 6611788
ACTA2166.510.99Moyamoya disease 5614042
ACTA2166.510.99Multisystemic smooth muscle dysfunction syndrome,613834
ACTC1178.910.99Atrial septal defect 5612794
ACTC1178.910.99Cardiomyopathy, dilated, 1R,613424
ACTC1178.910.99Cardiomyopathy, hypertrophic, 11612098
ACTC1178.910.99Left ventricular noncompaction 4613424
ACTN1162.610.99Bleeding disorder, platelet-type, 15615193
ACTN2175.511Cardiomyopathy, dilated, 1AA, with or without LVNC,612158
ACTN2175.511Cardiomyopathy, hypertrophic, 23 with or without LVNC,612158
ACVR1180.110.99Fibrodysplasia ossificans progressiva,135100
ACVR2B164.80.980.93Heterotaxy, visceral, 4 autosomal,613751
ADAMTS6183.90.990.98No OMIM phenotype613751
ADAMTS6183.90.990.98?Schizophrenia (Fromer -2014 Nature 506,179)613751
ADAMTS9163.20.970.96No OMIM phenotype613751
ADRB1155.90.950.87[Resting heart rate],607276
ADRB1155.90.950.87{Congestive heart failure and beta-blocker response, modifier of}607276
ADRB215011Beta-2-adrenoreceptor agonist, reduced response to607276
ADRB215011{Asthma, nocturnal, susceptibility to},600807
ADRB215011{Obesity, susceptibility to},601665
AGL164.60.990.97Glycogen storage disease IIIa,232400
AGL164.60.990.97Glycogen storage disease IIIb,232400
AGT20511Renal tubular dysgenesis,267430
AGT20511{Hypertension, essential, susceptibility to},145500
AGT20511{Preeclampsia, susceptibility to}145500
AGTR1159.810.99Renal tubular dysgenesis,267430
AGTR1159.810.99{Hypertension, essential},145500
AKAP9107.20.970.93?Long QT syndrome-11,611820
ALDH1A2134.80.990.99No OMIM phenotype611820
ALDH1A2134.80.990.99Tetralogy of Fallot (Pavan -2009 BMC Med Genet 10 113)611820
ALDH1A2134.80.990.99Pentalogy of Cantrell (Steiner -2013 J Med Case Rep 7,287)611820
ALDH1A2134.80.990.99?Congenital anomalies of the kidney and urinary tract (Nicolaou -2015 Kidney Int 89,476)611820
ALMS1197.70.990.99Alstrom syndrome,203800
ANK2171.110.99Cardiac arrhythmia, ankyrin-B-related,600919
ANK2171.110.99Long QT syndrome 4600919
ANKRD1126.80.960.93No OMIM phenotype600919
ANKRD1126.80.960.93Cardiomyopathy,hypertrophic (Arimura -2009 J Am Coll Cardiol 54,334)600919
ANKRD1126.80.960.93Cardiomyopathy,dilated (Duboscq-Bidot -2009 Eur Heart J 30,2128)600919
ANKRD1126.80.960.93?Total anomalous pulmonary venous return (Cinquetti -2008 Hum Mutat 29,468)600919
ANKRD1126.80.960.93?Neurodevelopmental disorder (Handrigan -2013 J Med Genet 50,163)600919
ANKS699.50.930.89Nephronophthisis 16615382
AP1B1188.40.990.98No OMIM phenotype615382
AP2B1132.90.990.98No OMIM phenotype615382
APBB1150.810.99No OMIM phenotype615382
APBB1150.810.99{Dementia alzheimer type,lower risk,association} (Hu -1998 Hum Genet 103,295)615382
ARMC4135.50.910.89Ciliary dyskinesia, primary, 23615451
ATP1A4183.211No OMIM phenotype615451
BAG3131.210.99Cardiomyopathy, dilated, 1HH,613881
BAG3131.210.99Myopathy, myofibrillar, 6612954
BICC1177.20.990.99{Renal dysplasia, cystic, susceptibility to},601331
BMPR2218.110.99Pulmonary hypertension, familial primary, 1 with or without HHT,178600
BMPR2218.110.99Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated,178600
BMPR2218.110.99Pulmonary venoocclusive disease 1265450
BRAF770.890.79Adenocarcinoma of lung, somatic,211980
BRAF770.890.79Cardiofaciocutaneous syndrome,115150
BRAF770.890.79Colorectal cancer, somatic115150
BRAF770.890.79LEOPARD syndrome 3613707
BRAF770.890.79Melanoma, malignant, somatic613707
BRAF770.890.79Nonsmall cell lung cancer, somatic613707
BRAF770.890.79Noonan syndrome 7613706
C1orf127111.80.990.97No OMIM phenotype613706
C1orf127111.80.990.97?Autism (Lim -2013 Neuron 77,235)613706
C5orf42136.50.980.94Joubert syndrome 17614615
C5orf42136.50.980.94Orofaciodigital syndrome VI,277170
CACNA1B156.80.940.91?Dystonia 23614860
CACNA1C174.20.990.99Brugada syndrome 3611875
CACNA1C174.20.990.99Timothy syndrome,601005
CACNA1D171.610.99Primary aldosteronism, seizures, and neurologic abnormalities,615474
CACNA1D171.610.99Sinoatrial node dysfunction and deafness,614896
CACNA2D197.30.910.84No OMIM phenotype614896
CACNA2D197.30.910.84Brugada syndrome (Burashnikov -2010 Heart Rhythm 7,1872)614896
CACNA2D197.30.910.84Short QT syndrome (Templin -2011 Eur Heart J 32,1077)614896
CACNA2D197.30.910.84Histiocytoid cardiomyopathy (Cataldo -2014 Cardiol Young epub)614896
CACNA2D197.30.910.84West syndrome (Hino-Fukuyo -2015 Hum Genet 134,649)614896
CACNB21630.990.97Brugada syndrome 4611876
CALM1153.110.99Long QT syndrome 14616247
CALM1153.110.99Ventricular tachycardia, catecholaminergic polymorphic, 4614916
CALM258.60.680.66Long QT syndrome 15616249
CALM3126.10.990.99No OMIM phenotype616249
CALM3126.10.990.99Catecholaminergic polymorphic ventricular tachycardia (Boczek -2013 Circulation 128,A14699)616249
CALM3126.10.990.99Long QT syndrome (Reed -2015 Heart Rhythm 12,419)616249
CALM3126.10.990.99{Cardiomyopathy,hypertrophic,modifier of} (Friedrich -2009 Eur Heart J 30,1648)616249
CALR3168.910.99?Cardiomyopathy, hypertrophic, 19613875
CAPN3132.60.990.97Muscular dystrophy, limb-girdle, type 2A,253600
CASQ2164.810.99Ventricular tachycardia, catecholaminergic polymorphic, 2611938
CAV3297.811Cardiomyopathy, familial hypertrophic,192600
CAV3297.811Creatine phosphokinase, elevated serum,123320
CAV3297.811Long QT syndrome 9611818
CAV3297.811Muscular dystrophy, limb-girdle, type IC,607801
CAV3297.811Myopathy, distal, Tateyama type,614321
CAV3297.811Rippling muscle disease,606072
CBL145.20.990.98Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia,613563
CBL145.20.990.98?Juvenile myelomonocytic leukemia,607785
CBS127.10.970.92Homocystinuria, B6-responsive and nonresponsive types,236200
CBS127.10.970.92Thrombosis, hyperhomocysteinemic,236200
CC2D2A137.50.980.96COACH syndrome,216360
CC2D2A137.50.980.96Joubert syndrome 9612285
CC2D2A137.50.980.96Meckel syndrome 6612284
CCDC1511320.990.98Ciliary dyskinesia, primary, 30616037
CCDC3990.90.960.9Ciliary dyskinesia, primary, 14613807
CDKN1C350.750.6Beckwith-Wiedemann syndrome,130650
CDKN1C350.750.6IMAGE syndrome,614732
CEP29077.40.880.77Joubert syndrome 5610188
CEP29077.40.880.77Leber congenital amaurosis 10611755
CEP29077.40.880.77Meckel syndrome 4611134
CEP29077.40.880.77Senior-Loken syndrome 6610189
CEP29077.40.880.77?Bardet-Biedl syndrome 14615991
CFC161.20.780.65Heterotaxy, visceral, 2 autosomal,605376
CHD71610.990.98CHARGE syndrome,214800
CHD71610.990.98Hypogonadotropic hypogonadism 5 with or without anosmia,612370
CITED2131.110.99Atrial septal defect 8614433
CITED2131.110.99Ventricular septal defect 2614431
CNTF120.211No OMIM phenotype614431
CNTF120.211{Ciliary neurotrophic factor deficiency} (Takahashi -1994 Nat Genet 7,79)614431
CNTRL128.60.980.95No OMIM phenotype614431
COL3A1115.80.950.88Ehlers-Danlos syndrome, type IV,130050
COL4A1101.80.980.93Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps,611773
COL4A1101.80.980.93Brain small vessel disease with or without ocular anomalies,607595
COL4A1101.80.980.93Porencephaly 1175780
COL4A1101.80.980.93?Retinal arteries, tortuosity of,180000
COL4A1101.80.980.93{Hemorrhage, intracerebral, susceptibility to},614519
COL5A1125.60.970.95Ehlers-Danlos syndrome, classic type,130000
COL5A293.40.990.96Ehlers-Danlos syndrome, classic type,130000
CRELD1120.60.990.99Atrioventricular septal defect, partial, with heterotaxy syndrome,606217
CRELD1120.60.990.99{Atrioventricular septal defect, susceptibility to, 2},606217
CRKL174.710.99No OMIM phenotype606217
CRKL174.710.99?Congenital heart defect (Breckpot -2012 Am J Med Genet A 158A,574)606217
CRKL174.710.99?Tetralogy of Fallot (Tomita-Mitchell -2012 Physiol Genomics 44,518)606217
CRKL174.710.99?Ventricular septal defect (Zhao -2013 Am J Med Genet A 161,3087606217
CRYAB131.20.990.97Cardiomyopathy, dilated, 1II,615184
CRYAB131.20.990.97Cataract 16 multiple types,613763
CRYAB131.20.990.97Myopathy, myofibrillar, 2608810
CRYAB131.20.990.97Myopathy, myofibrillar, fatal infantile hypertrophy, alpha-B crystallin-related,613869
CSRP3122.110.99Cardiomyopathy, hypertrophic, 12612124
CSRP3122.110.99?Cardiomyopathy, dilated, 1M,607482
CTBP2104.10.990.96No OMIM phenotype607482
CTBP2104.10.990.96?Congenital heart disease (Glessner -2014 Circ Res 115,884)607482
CTF126.80.30.21No OMIM phenotype607482
CTF126.80.30.21Cardiomyopathy,dilated (Erdmann -2000 Hum Mutat 16,448)607482
CTLA4227.111Autoimmune lymphoproliferative syndrome, type V,616100
CTLA4227.111{Celiac disease, susceptibility to, 3},609755
CTLA4227.111{Diabetes mellitus, insulin-dependent, 12},601388
CTLA4227.111{Hashimoto thyroiditis},140300
CTLA4227.111{Systemic lupus erythematosus, susceptibility to},152700
CTNNA3167.610.99Arrhythmogenic right ventricular dysplasia, familial, 13615616
CXADR890.920.87No OMIM phenotype615616
CXCR4210.410.99Myelokathexis, isolated615616
CXCR4210.410.99WHIM syndrome,193670
CYP11B2185.810.99Aldosterone to renin ratio raised193670
CYP11B2185.810.99Hypoaldosteronism, congenital, due to CMO I deficiency,203400
CYP11B2185.810.99Hypoaldosteronism, congenital, due to CMO II deficiency,610600
CYP11B2185.810.99{Low renin hypertension, susceptibility to}610600
DAW1185.30.990.95No OMIM phenotype610600
DCTN5128.40.980.92No OMIM phenotype610600
DDX39B18.80.710.33No OMIM phenotype610600
DDX39B18.80.710.33{Leprosy,susceptibility to,association with} (Ali -2012 Hum Genet 131,703)610600
DES138.30.990.98Cardiomyopathy, dilated, 1I,604765
DES138.30.990.98Myopathy, myofibrillar, 1601419
DES138.30.990.98Scapuloperoneal syndrome, neurogenic, Kaeser type,181400
DES138.30.990.98?Muscular dystrophy, limb-girdle, type 2R,615325
DMD147.30.990.97Becker muscular dystrophy,300376
DMD147.30.990.97Cardiomyopathy, dilated, 3B,302045
DMD147.30.990.97Duchenne muscular dystrophy,310200
DNAAF397.10.980.92Ciliary dyskinesia, primary, 2606763
DNAH11150.40.990.98Ciliary dyskinesia, primary, 7 with or without situs inversus,611884
DNAH5144.40.990.98Ciliary dyskinesia, primary, 3 with or without situs inversus,608644
DNAI1130.30.980.97Ciliary dyskinesia, primary, 1 with or without situs inversus,244400
DNAJC19105.30.970.93-methylglutaconic aciduria, type V,610198
DNM2143.20.980.96Charcot-Marie-Tooth disease, axonal, type 2M,606482
DNM2143.20.980.96Charcot-Marie-Tooth disease, dominant intermediate B,606482
DNM2143.20.980.96Lethal congenital contracture syndrome 5615368
DNM2143.20.980.96Myopathy, centronuclear,160150
DOLK201.80.990.99Congenital disorder of glycosylation, type Im,610768
DPP6157.80.980.95Mental retardation, autosomal dominant 33616311
DPP6157.80.980.95{Ventricular fibrillation, paroxysmal familial, 2},612956
DRC1105.80.990.97Ciliary dyskinesia, primary, 21615294
DSC2154.40.980.94Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair,615294
DSC2154.40.980.94Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair,610476
DSC2154.40.980.94Arrhythmogenic right ventricular dysplasia 11610476
DSG2150.70.990.98Arrhythmogenic right ventricular dysplasia 10610193
DSG2150.70.990.98Cardiomyopathy, dilated, 1BB,612877
DSP161.90.990.99Arrhythmogenic right ventricular dysplasia 8607450
DSP161.90.990.99Cardiomyopathy, dilated, with woolly hair and keratoderma,605676
DSP161.90.990.99Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis,615821
DSP161.90.990.99Epidermolysis bullosa, lethal acantholytic,609638
DSP161.90.990.99Keratosis palmoplantaris striata II,612908
DSP161.90.990.99Skin fragility-woolly hair syndrome,607655
DTNA184.111Left ventricular noncompaction 1 with or without congenital heart defects,604169
DYNC2H1102.90.950.86Short-rib thoracic dysplasia 3 with or without polydactyly,613091
DYX1C188.30.970.85Ciliary dyskinesia, primary, 25615482
DYX1C188.30.970.85{Dyslexia, susceptibility to, 1},127700
EDN1158.511Auriculocondylar syndrome 3615706
EDN1158.511Question mark ears, isolated,612798
EDN1158.511{High density lipoprotein cholesterol level QTL 7}612798
EDNRA226.90.990.99Mandibulofacial dysostosis with alopecia,616367
EDNRA226.90.990.99{Migraine, resistance to},157300
EDNRB143.90.950.91ABCD syndrome,600501
EDNRB143.90.950.91Waardenburg syndrome, type 4A,277580
EDNRB143.90.950.91{Hirschsprung disease, susceptibility to, 2},600155
EFEMP2139.911Cutis laxa, autosomal recessive, type IB,614437
ELN111.90.990.98Cutis laxa, AD,123700
ELN111.90.990.98Supravalvar aortic stenosis,185500
EMD113.70.990.96Emery-Dreifuss muscular dystrophy 1 X-linked,310300
ETS1136.60.990.98No OMIM phenotype310300
ETS1136.60.990.98Congenital heart disease (Glessner -2014 Circ Res 115,884)310300
EYA4176.110.99Cardiomyopathy, dilated, 1J,605362
EYA4176.110.99Deafness, autosomal dominant 10601316
FBN1185.20.990.99Acromicric dysplasia,102370
FBN1185.20.990.99Aortic aneurysm, ascending, and dissection102370
FBN1185.20.990.99Ectopia lentis, familial,129600
FBN1185.20.990.99Geleophysic dysplasia 2614185
FBN1185.20.990.99Marfan lipodystrophy syndrome,616914
FBN1185.20.990.99Marfan syndrome,154700
FBN1185.20.990.99MASS syndrome,604308
FBN1185.20.990.99Stiff skin syndrome,184900
FBN1185.20.990.99Weill-Marchesani syndrome 2 dominant,608328
FBN2179.50.990.99Contractural arachnodactyly, congenital,121050
FBN2179.50.990.99Macular degeneration, early-onset,616118
FHL1101.90.980.9Emery-Dreifuss muscular dystrophy 6 X-linked,300696
FHL1101.90.980.9Hemophagocytic lymphohistiocytosis, familial, 1300696
FHL1101.90.980.9Myopathy, X-linked, with postural muscle atrophy,300696
FHL1101.90.980.9Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset,300717
FHL1101.90.980.9Reducing body myopathy, X-linked 1b, with late childhood or adult onset,300718
FHL1101.90.980.9Scapuloperoneal myopathy, X-linked dominant,300695
FHL2171.90.990.98No OMIM phenotype300695
FHL2171.90.990.98Cardiomyopathy,hypertrophic (Friedrich -2014 Basic Res Cardiol 109,451)300695
FHL2171.90.990.98?Distal myopathy (Evila -2016 Neuromuscul Disord 26,7)300695
FKTN157.40.980.93Cardiomyopathy, dilated, 1X,611615
FKTN157.40.980.93Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4253800
FKTN157.40.980.93Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4613152
FKTN157.40.980.93Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4611588
FLNA161.10.990.99Cardiac valvular dysplasia, X-linked,314400
FLNA161.10.990.99Congenital short bowel syndrome,300048
FLNA161.10.990.99FG syndrome 2300321
FLNA161.10.990.99Frontometaphyseal dysplasia,305620
FLNA161.10.990.99Heterotopia, periventricular,300049
FLNA161.10.990.99Heterotopia, periventricular, ED variant,300537
FLNA161.10.990.99Intestinal pseudoobstruction, neuronal,300048
FLNA161.10.990.99Melnick-Needles syndrome,309350
FLNA161.10.990.99Otopalatodigital syndrome, type I,311300
FLNA161.10.990.99Otopalatodigital syndrome, type II,304120
FLNA161.10.990.99Terminal osseous dysplasia,300244
FLNC179.210.99Cardiomyopathy, familial hypertrophic, 26300244
FLNC179.210.99Cardiomyopathy, familial restrictive 5617047
FLNC179.210.99Myopathy, distal, 4614065
FLNC179.210.99Myopathy, myofibrillar, 5609524
FOXC254.50.960.85Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus,153400
FOXC254.50.960.85Lymphedema-distichiasis syndrome,153400
FOXH156.30.970.88No OMIM phenotype153400
FOXH156.30.970.88Congenital heart defects (Roessler -2008 Am J Hum Genet 83,18)153400
FOXH156.30.970.88Ventricular septal defect (Wang -2010 Int J Cardiol 145,83)153400
FOXJ179.10.980.95No OMIM phenotype153400
FOXL183.60.850.79No OMIM phenotype153400
FOXL183.60.850.79?Hypoplastic left heart syndrome (Iascone -2012 Clin Genet 81,542)153400
FREM2199.10.990.99Fraser syndrome,219000
FUZ116.710.99Neural tube defects,182940
FXN86.10.860.76Friedreich ataxia with retained reflexes,229300
FXN86.10.860.76Friedreich ataxia,229300
GAA126.110.99Glycogen storage disease II,232300
GATA489.10.710.62Atrial septal defect 2607941
GATA489.10.710.62Atrioventricular septal defect 4614430
GATA489.10.710.62Tetralogy of Fallot,187500
GATA489.10.710.62Ventricular septal defect 1614429
GATA489.10.710.62?Testicular anomalies with or without congenital heart disease,615542
GATA560.40.980.93No OMIM phenotype615542
GATA560.40.980.93Bicuspid aortic valve (Shi -2014 Int J Mol Med 33,1219)615542
GATA560.40.980.93Atrial septal defect (Jiang -2013 Int J Cardiol 165,570)615542
GATA560.40.980.93Atrial fibrillation (Gu -2012 Clinics (Sao Paulo) 67,1393)615542
GATA560.40.980.93Atrioventricular septal defect, Down-syndrome-related (Ackerman -2012 Am J Hum Genet 91,646)615542
GATA560.40.980.93Tetralogy of Fallot (Wei -2013 Int J Med Sci 10,34)615542
GATA560.40.980.93Cardiomyopathy,dilated (Zhang -2015 Int J Mol Med 35,763)615542
GATA659.30.840.7Atrial septal defect 9614475
GATA659.30.840.7Atrioventricular septal defect 5614474
GATA659.30.840.7Pancreatic agenesis and congenital heart defects,600001
GATA659.30.840.7Persistent truncus arteriosus,217095
GATA659.30.840.7Tetralogy of Fallot,187500
GATAD1146.90.980.93?Cardiomyopathy, dilated, 2B,614672
GDF127.70.780.59Double-outlet right ventricle,217095
GDF127.70.780.59Right atrial isomerism,208530
GDF127.70.780.59Tetralogy of Fallot,187500
GDF127.70.780.59Transposition of great arteries, dextro-looped 3613854
GJA1218.111Atrioventricular septal defect 3600309
GJA1218.111Craniometaphyseal dysplasia, autosomal recessive,218400
GJA1218.111Erythrokeratodermia variabilis et progressiva,133200
GJA1218.111Hypoplastic left heart syndrome 1241550
GJA1218.111Oculodentodigital dysplasia,164200
GJA1218.111Oculodentodigital dysplasia, autosomal recessive,257850
GJA1218.111Palmoplantar keratoderma with congenital alopecia,104100
GJA1218.111Syndactyly, type III,186100
GJA5284.211Atrial fibrillation, familial, 11614049
GJA5284.211Atrial standstill, digenic (GJA5/SCN5A),108770
GJC1212.311No OMIM phenotype108770
GLA87.10.990.97Fabry disease,301500
GLA87.10.990.97Fabry disease, cardiac variant,301500
GPD1L173.410.99Brugada syndrome 2611777
GTPBP3135.80.990.98Combined oxidative phosphorylation deficiency 23616198
GTPBP3135.80.990.98H19 NC NC NC Beckwith-Wiedemann syndrome,130650
GTPBP3135.80.990.98Silver-Russell syndrome,180860
GTPBP3135.80.990.98Wilms tumor 2194071
HAND1102.90.990.98No OMIM phenotype194071
HAND1102.90.990.98Ventricular septal defect (Cheng -2011 Clin Chim Acta)194071
HAND1102.90.990.98Cardiac malformations (Reamon-Buettner -2009 Hum Mol Genet 18,3567)194071
HAND1102.90.990.98Cardiomyopathy, dilated (Zhou -2015 Clin Chem Lab Med Epub, epub)194071
HAND258.20.970.89No OMIM phenotype194071
HAND258.20.970.89Tetralogy of Fallot (Topf -2014 PLoS One 9,e95453)194071
HAND258.20.970.89Ventricular septal defect (Sun -2016 G3 (Bethesda) epub,epub)194071
HAND258.20.970.89?Congenital heart disease (Shen -2010 Chin Med J (Engl) 123,1623)194071
HCN1142.60.990.98Epileptic encephalopathy, early infantile, 24615871
HCN499.30.980.94Brugada syndrome 8613123
HCN499.30.980.94Sick sinus syndrome 2163800
HECTD1197.10.990.96No OMIM phenotype163800
HEY2147.60.980.93No OMIM phenotype163800
HEY2147.60.980.93Congenital heart defects and cognitive impairment (Jordan -2015 Am J Med Genet A 167,2145)163800
HFE1550.990.99Hemochromatosis,235200
HFE1550.990.99[Transferrin serum level QTL2],614193
HFE1550.990.99{Alzheimer disease, susceptibility to},104300
HFE1550.990.99{Microvascular complications of diabetes 7},612635
HFE1550.990.99{Porphyria cutanea tarda, susceptibility to},176100
HFE1550.990.99{Porphyria variegata, susceptibility to},176200
HFE2133.30.990.99Hemochromatosis type 2A,602390
HOOK189.10.940.87No OMIM phenotype602390
HRAS195.30.990.99Congenital myopathy with excess of muscle spindles,218040
HRAS195.30.990.99Costello syndrome,218040
HRAS195.30.990.99Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic,163200
HRAS195.30.990.99{Bladder cancer, somatic},109800
HRAS195.30.990.99{Nevus sebaceous or woolly hair nevus, somatic},162900
HRAS195.30.990.99{Spitz nevus or nevus spilus, somatic},137550
HRAS195.30.990.99{Thyroid carcinoma, follicular, somatic},188470
IDUA116.90.910.85Mucopolysaccharidosis Ih,607014
IDUA116.90.910.85Mucopolysaccharidosis Ih/s,607015
IDUA116.90.910.85Mucopolysaccharidosis Is,607016
IFNG135.910.99{AIDS, rapid progression to},609423
IFNG135.910.99{Aplastic anemia},609135
IFNG135.910.99{Hepatitis C virus, response to therapy of},609532
IFNG135.910.99{TSC2 angiomyolipomas, renal, modifier of},613254
IFNG135.910.99{Tuberculosis, protection against},607948
IFT140124.50.990.98Short-rib thoracic dysplasia 9 with or without polydactyly,266920
IFT74960.940.85No OMIM phenotype266920
IL10154.710.99{Graft-versus-host disease, protection against},614395
IL10154.710.99{HIV-1, susceptibility to},609423
IL10154.710.99{Rheumatoid arthritis, progression of},180300
ILK16511No OMIM phenotype180300
ILK16511Cardiomyopathy, dilated (Knoll -2007 Circulation 116,515)180300
ILK16511?Congenital anomalies of the kidney and urinary tract (Nicolaou -2015 Kidney Int 89 476)180300
IRX496.50.970.93No OMIM phenotype180300
IRX496.50.970.93Congenital heart defect (Cheng -2014 BMC Genomics 15,1127)180300
IRX496.50.970.93{Prostate cancer,susceptibility to} (Nguyen -2012 Hum Mol Genet 21,2076)180300
JAG11670.990.98Alagille syndrome,118450
JAG11670.990.98Tetralogy of Fallot,187500
JAG11670.990.98?Deafness, congenital heart defects, and posterior embryotoxon187500
JPH2103.30.960.88Cardiomyopathy, hypertrophic, 17613873
JUP1590.990.98Arrhythmogenic right ventricular dysplasia 12611528
JUP1590.990.98Naxos disease,601214
KCNA5155.40.990.98Atrial fibrillation, familial, 7612240
KCND2205.911No OMIM phenotype612240
KCND2205.911Autism and epilepsy (Lee -2014 Hum Mol Genet 23,3481)612240
KCND2205.911J-wave syndrome with sudden cardiac death (Perrin -2014 Circ Cardiovasc Genet 7,782)612240
KCND2205.911Epilepsy,temporal lobe (Singh -2006 Neurobiol Dis 24,245)612240
KCND3207.210.98Brugada syndrome 9616399
KCND3207.210.98Spinocerebellar ataxia 19607346
KCNE1489.611Jervell and Lange-Nielsen syndrome 2612347
KCNE1489.611Long QT syndrome 5613695
KCNE1L99.60.980.93No OMIM phenotype613695
KCNE1L99.60.980.93Atrial fibrillation (Ravn -2008 Heart Rhythm 5,427613695
KCNE1L99.60.980.93Idiopathic ventricular fibrillation (Ohno -2011 Circ Arrhythm Electrophysiol 4,352)613695
KCNE1L99.60.980.93Atrial fibrillation,lone,early-onset (Olesen -2014 Heart Rhythm 11,246)613695
KCNE2171.310.99Atrial fibrillation, familial, 4611493
KCNE2171.310.99Long QT syndrome 6613693
KCNE3185.811Brugada syndrome 6613119
KCNE41020.790.77No OMIM phenotype613119
KCNE41020.790.77?Periodic paralysis (Silva -2004 Arq Bras Endocrinol Metabol 48,196)613119
KCNE41020.790.77{Atrial fibrillation, association with} (Zeng -2007 Cardiology 108,97)613119
KCNH2111.30.940.88Long QT syndrome 2613688
KCNH2111.30.940.88Short QT syndrome 1609620
KCNH2111.30.940.88{Long QT syndrome 2 acquired, susceptibility to},613688
KCNJ11302.711Diabetes mellitus, permanent neonatal, with neurologic features,606176
KCNJ11302.711Diabetes mellitus, transient neonatal, 3610582
KCNJ11302.711Diabetes, permanent neonatal,606176
KCNJ11302.711Hyperinsulinemic hypoglycemia, familial, 2601820
KCNJ11302.711Maturity-onset diabetes of the young, type 13616329
KCNJ11302.711{Diabetes mellitus, type 2 susceptibility to},125853
KCNJ12592.610.99No OMIM phenotype125853
KCNJ2227.711Andersen syndrome,170390
KCNJ2227.711Atrial fibrillation, familial, 9613980
KCNJ2227.711Short QT syndrome 3609622
KCNJ3184.611No OMIM phenotype609622
KCNJ3184.611{Schizophrenia, association with} (Yamada -2012 Hum Genet 131,443)609622
KCNJ5217.310.99Hyperaldosteronism, familial, type III,613677
KCNJ5217.310.99Long QT syndrome 13613485
KCNJ8193.211No OMIM phenotype613485
KCNJ8193.211Cantu syndrome (Brownstein -2013 Eur J Med Genet 56,678)613485
KCNJ8193.211Sudden infant death syndrome (Klaver -2011 Int J Cardiol 152,162)613485
KCNJ8193.211?Ventricular fibrillation (Haissaguerre -2009 J Cardiovasc Electrophysiol 20,93)613485
KCNMB1125.911{Hypertension, diastolic, resistance to},608622
KCNQ1124.80.920.89Atrial fibrillation, familial, 3607554
KCNQ1124.80.920.89Jervell and Lange-Nielsen syndrome,220400
KCNQ1124.80.920.89Long QT syndrome 1192500
KCNQ1124.80.920.89Short QT syndrome 2609621
KCNQ1124.80.920.89{Long QT syndrome 1 acquired, susceptibility to},192500
KCNQ1124.80.920.89KCNQ1OT1 NC NC NC Beckwith-Wiedemann syndrome,130650
KCNQ2103.90.980.96Epileptic encephalopathy, early infantile, 7613720
KCNQ2103.90.980.96Myokymia,121200
KCNQ2103.90.980.96Seizures, benign neonatal, 1121200
KIF793.40.950.88Acrocallosal syndrome,200990
KIF793.40.950.88Joubert syndrome 12200990
KIF793.40.950.88?Al-Gazali-Bakalinova syndrome,607131
KIF793.40.950.88?Hydrolethalus syndrome 2614120
KMT2D162.10.990.99Kabuki syndrome 1147920
KRAS72.10.990.96Bladder cancer, somatic,109800
KRAS72.10.990.96Breast cancer, somatic,114480
KRAS72.10.990.96Cardiofaciocutaneous syndrome 2615278
KRAS72.10.990.96Gastric cancer, somatic,137215
KRAS72.10.990.96Leukemia, acute myeloid,601626
KRAS72.10.990.96Lung cancer, somatic,211980
KRAS72.10.990.96Noonan syndrome 3609942
KRAS72.10.990.96Pancreatic carcinoma, somatic,260350
KRAS72.10.990.96RAS-associated autoimmune leukoproliferative disorder,614470
KRAS72.10.990.96Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic,163200
LAMA4151.110.99Cardiomyopathy, dilated, 1JJ,615235
LAMP2134.30.920.91Danon disease,300257
LDB3134.40.950.92Cardiomyopathy, dilated, 1C, with or without LVNC,601493
LDB3134.40.950.92Cardiomyopathy, hypertrophic, 24601493
LDB3134.40.950.92Left ventricular noncompaction 3601493
LDB3134.40.950.92Myopathy, myofibrillar, 4609452
LEFTY243.30.910.74Left-right axis malformations (Koasaki -1999 Am J Hum Genet 64 712)609452
LIMS1540.40.32No OMIM phenotype609452
LMNA90.40.960.89Cardiomyopathy, dilated, 1A,115200
LMNA90.40.960.89Charcot-Marie-Tooth disease, type 2B1,605588
LMNA90.40.960.89Emery-Dreifuss muscular dystrophy 2 AD,181350
LMNA90.40.960.89Emery-Dreifuss muscular dystrophy 3 AR,616516
LMNA90.40.960.89Heart-hand syndrome, Slovenian type,610140
LMNA90.40.960.89Hutchinson-Gilford progeria,176670
LMNA90.40.960.89Lipodystrophy, familial partial, 2151660
LMNA90.40.960.89Malouf syndrome,212112
LMNA90.40.960.89Mandibuloacral dysplasia,248370
LMNA90.40.960.89Muscular dystrophy, congenital,613205
LMNA90.40.960.89Muscular dystrophy, limb-girdle, type 1B,159001
LMNA90.40.960.89Restrictive dermopathy, lethal,275210
LOX148.70.990.97No OMIM phenotype275210
LOX148.70.990.97{Breast cancer,increased risk,in African American women,association with} (Min -2009 Cancer Res275210
LOX148.70.990.9769,6685)275210
LOX148.70.990.97{Osteosarcoma, association with} (Liu -2012 PLoS One 7,e41610)275210
LRP1215.70.990.99No OMIM phenotype275210
LRP1215.70.990.99Keratosis pilaris atrophicans (Klar -2015 J Med Genet 52,599)275210
LRP1215.70.990.99{Abdominal aortic aneurysm, increased risk} (Bown -2011 Am J Hum Genet 89,619)275210
LRP1215.70.990.99?Multiple autoimmune syndrome (Johar -2015 J Transl Med 13,173)275210
LRP1215.70.990.99?Aortic aneurysm (Li -2014 Diagn Pathol 9 25)275210
LRP1215.70.990.99?Deafness (Miyagawa -2013 PLoS One 8 e71381)275210
LRP1215.70.990.99?Schizophrenia (Girard -2015 PLoS One 10 e0128988)
LRP1215.70.990.99?Autism (Sanders -2012 Nature 485 237)0128988)
LRP2199.910.99Donnai-Barrow syndrome,222448
LRP6186.610.99Tooth agenesis, selective, 7616724
LRP6186.610.99{Coronary artery disease, autosomal dominant, 2},610947
LRRC10190.311No OMIM phenotype610947
LRRC10190.311Cardiomyopathy,dilated (Qu -2015 Mol Med Rep 12,3718)610947
LTBP1156.70.950.93No OMIM phenotype610947
LTBP1156.70.950.93?Autism (Sanders -2012 Nature 485,237)610947
MAP2K1107.30.990.95Cardiofaciocutaneous syndrome 3615279
MAP2K2118.50.970.92Cardiofaciocutaneous syndrome 4615280
MCTP2143.30.990.97No OMIM phenotype615280
MCTP2143.30.990.97Coarctation of the aorta (Lalani -2013 Hum Mol Genet 22,4339)615280
MCTP2143.30.990.97?Bicuspid aortic valve (Bonachea -2014 BMC Med Genomics 7,56)615280
MED13L151.710.99Mental retardation and distinctive facial features with or without cardiac defects,616789
MED13L151.710.99Transposition of the great arteries, dextro-looped 1608808
MEF2C142.40.980.93Chromosome 5q14,3 deletion syndrome,613443
MEF2C142.40.980.93Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations,613443
MEGF81340.990.98Carpenter syndrome 2614976
MIB1170.510.99Left ventricular noncompaction 7615092
MICA27.60.680.52No OMIM phenotype615092
MICA27.60.680.52Lung cancer (Huang -2011 Tissue antigens 78,297)615092
MICA27.60.680.52{Ankylosing spondylitis, early onset, association with} (Amroun -2005 Hum Immunol 66,1057)615092
MICA27.60.680.52{Rheumatoid arthritis, association with} (Kirsten -2009 Arthritis Res Ther 11,R60)615092
MICA27.60.680.52{Cervical cancer,increased risk} (Chen -2013 J Natl Cancer Inst 105,624)615092
MICA27.60.680.52{Oral squamous cell carcinoma, association with} (Tamaki -2007 J Oral Pathol Med 36,351)615092
MICA27.60.680.52{Behcet disease,association with} (Mizuki -1997 Proc Natl Acad Sci USA 94,1298)615092
MICB16.20.50.3No OMIM phenotype615092
MICB16.20.50.3{autism, association with} (Lim -2013 Neuron 77,235)615092
MMP211160.920.87Heterotaxy, visceral, 7 autosomal,616749
MRPL369.90.890.78Combined oxidative phosphorylation deficiency 9614582
MTO1179.80.890.87Combined oxidative phosphorylation deficiency 10614702
MYBPC3155.70.990.96Cardiomyopathy, dilated, 1MM,615396
MYBPC3155.70.990.96Cardiomyopathy, hypertrophic, 4115197
MYBPC3155.70.990.96Left ventricular noncompaction 10615396
MYH10160.70.990.99No OMIM phenotype615396
MYH10160.70.990.99Intrauterine growth restriction,microcephaly,developmental delay and hip dysplasia (Tuzovic -2013615396
MYH10160.70.990.99Rare Dis 1,e26144)615396
MYH10160.70.990.99?Intellectual disability (Hamdan -2014 PLoS Genet 10,e1004772)
MYH10160.70.990.99?Autism spectrum disorder (Li -2016 Mol Psychiatry 21 290)1004772)
MYH11148.210.99Aortic aneurysm, familial thoracic 4132900
MYH6131.60.990.96Atrial septal defect 3614089
MYH6131.60.990.96Cardiomyopathy, dilated, 1EE,613252
MYH6131.60.990.96Cardiomyopathy, hypertrophic, 14613251
MYH6131.60.990.96{Sick sinus syndrome 3},614090
MYH7128.20.990.96Cardiomyopathy, dilated, 1S,613426
MYH7128.20.990.96Cardiomyopathy, hypertrophic, 1192600
MYH7128.20.990.96Left ventricular noncompaction 5613426
MYH7128.20.990.96Liang distal myopathy,160500
MYH7128.20.990.96Myopathy, myosin storage, autosomal dominant,608358
MYH7128.20.990.96Myopathy, myosin storage, autosomal recessive,255160
MYH7128.20.990.96Scapuloperoneal syndrome, myopathic type,181430
MYH7B1270.980.95No OMIM phenotype181430
MYH7B1270.980.95?Cardiomyopathy,left ventricular noncompaction (Esposito -2013 Orphanet J Rare Dis 8)181430
MYH7B1270.980.95?Hearing loss (Haraksingh -2014 BMC Genomics 15,1155)181430
MYL2148.80.980.93Cardiomyopathy, hypertrophic, 10608758
MYL3123.911Cardiomyopathy, hypertrophic, 8608751
MYL7175.211No OMIM phenotype608751
MYLK170.10.990.99Aortic aneurysm, familial thoracic 7613780
MYLK2127.310.99Cardiomyopathy, hypertrophic, 1 digenic,192600
MYO1C117.20.990.98No OMIM phenotype192600
MYO1C117.20.990.98?Sensorineural hearing loss,bilateral (Zadro -2009 Biochim Biophys Acta 1792,27)192600
MYOM2171.110.99No OMIM phenotype192600
MYOM2171.110.99?Tetralogy of Fallot (Grunert -2014 Hum Mol Genet 23,3115)192600
MYOT159.80.990.97Muscular dystrophy, limb-girdle, type 1A,159000
MYOT159.80.990.97Myopathy, myofibrillar, 3609200
MYOT159.80.990.97Myopathy, spheroid body,182920
MYOZ192.710.99No OMIM phenotype182920
MYOZ2169.610.99Cardiomyopathy, hypertrophic, 16613838
MYPN165.70.990.98Cardiomyopathy, dilated, 1KK,615248
MYPN165.70.990.98Cardiomyopathy, familial restrictive, 4615248
MYPN165.70.990.98Cardiomyopathy, hypertrophic, 22615248
MYZAP153.50.960.92No OMIM phenotype615248
NAT8182.311No OMIM phenotype615248
NAT8182.311?Microalbuminuria and dysplastic kidney (Carmichael -2013 Clin Genet 84,213)615248
NAT8182.311?Altered N-acetylornithine metabolism (Yu -2014 PLoS Genet 10,e1004212
NDST1220.211Mental retardation, autosomal recessive 46616116
NEBL124.10.970.93No OMIM phenotype616116
NEBL124.10.970.93Cardiomyopathy,dilated (Purejav -2010 J Am Coll Cardiol 56,1493)616116
NEK8187.610.99?Nephronophthisis 9613824
NEK8187.610.99?Renal-hepatic-pancreatic dysplasia 2615415
NEXN79.40.90.8Cardiomyopathy, dilated, 1CC,613122
NEXN79.40.90.8Cardiomyopathy, hypertrophic, 20613876
NFATC1125.50.990.97No OMIM phenotype613876
NFATC1125.50.990.97Tricuspid atresia (Abdul-Sater(2012) PLoS One 7,e49532)613876
NFATC1125.50.990.97Congenital heart disease (Glessner -2014 Circ Res 115,884)613876
NFATC1125.50.990.97?Biscuspid aortic valve (Bonachea -2014 BMC Med Genomics 7,56)613876
NFATC1125.50.990.97?Tetralogy of Fallot (Silversides -2012 PLoS Genet 8 e1002843)
NFATC1125.50.990.97?Ventricular septal defect (Zhao -2013 Am J Med Genet A 161,3087)1002843)
NFATC4103.60.970.95No OMIM phenotype1002843)
NFATC4103.60.970.95{Cardiac hypertrophy,protection,association} (Poirier -2003 Eur J Hum Genet 11,6591002843)
NFKBIL19.60.420.12{Rheumatoid arthritis, susceptibility to},180300
NGF286.711Neuropathy, hereditary sensory and autonomic, type V,608654
NKX2-594.710.99Atrial septal defect 7 with or without AV conduction defects,108900
NKX2-594.710.99Conotruncal heart malformations, variable,217095
NKX2-594.710.99Hypoplastic left heart syndrome 2614435
NKX2-594.710.99Hypothyroidism, congenital nongoitrous, 5225250
NKX2-594.710.99Tetrology of Fallot,187500
NKX2-594.710.99Ventricular septal defect 3614432
NKX2-6121.60.990.98Conotruncal heart malformations,217095
NKX2-6121.60.990.98Persistent truncus arteriosus,217095
NODAL156.611Heterotaxy, visceral, 5270100
NOS1AP204.211No OMIM phenotype270100
NOS1AP204.211Long QT syndrome (Shigemizu -2015 PLoS One 10,e0130329)
NOS1AP204.211?Obsessive-compulsive disorder (Delorme -2010 BMC Med Genet 11,108)0130329)
NOS1AP204.211{Cardiac repolarisation, association with} (Arking -2006 Nat Genet 38,644)0130329)
NOS3107.60.930.89{Alzheimer disease, late-onset, susceptibility to},104300
NOS3107.60.930.89{Coronary artery spasm 1 susceptibility to}104300
NOS3107.60.930.89{Hypertension, pregnancy-induced},189800
NOS3107.60.930.89{Hypertension, susceptibility to},145500
NOS3107.60.930.89{Ischemic stroke, susceptibility to},601367
NOS3107.60.930.89{Placental abruption}601367
NOTCH1150.20.990.98Adams-Oliver syndrome 5616028
NOTCH1150.20.990.98Aortic valve disease 1109730
NOTCH2194.610.99Alagille syndrome 2610205
NOTCH2194.610.99Hajdu-Cheney syndrome,102500
NPPA104.40.990.99Atrial fibrillation, familial, 6612201
NPPA104.40.990.99Atrial standstill 2615745
NPPB159.911No OMIM phenotype615745
NPPB159.911?Hypertension (Zeng -2013 J Hum Hypertens 27,271)615745
NPPB159.911{Diabetes type 2,reduced risk,association with} (Meirhaeghe -2007 Hum Mol Genet 16,1343)615745
NR2F2242.80.990.94Congenital heart defects, multiple types, 4615779
NRAS205.711Colorectal cancer, somatic,114500
NRAS205.711Epidermal nevus, somatic,162900
NRAS205.711Melanocytic nevus syndrome, congenital, somatic,137550
NRAS205.711Neurocutaneous melanosis, somatic,249400
NRAS205.711Noonan syndrome 6613224
NRAS205.711Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic,163200
NRAS205.711Thyroid carcinoma, follicular, somatic,188470
NRAS205.711?RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic,614470
NSD1172.310.99Beckwith-Wiedemann syndrome,130650
NSD1172.310.99Leukemia, acute myeloid,601626
NSD1172.310.99Sotos syndrome 1117550
OBSCN176.10.990.98No OMIM phenotype117550
OBSCN176.10.990.98Cardiomyopathy,dilated (Marston -2015 PLoS One 10,e138568)
OBSCN176.10.990.98Glioblastoma (Balakrishnan -2007 Cancer Res 67,3545)138568)
OBSCN176.10.990.98?Breast cancer (Aloraifi -2015 FEBS J epub,epub)138568)
OBSCN176.10.990.98?Schizophrenia (Fromer -2014 Nature 506,179)138568)
OBSCN176.10.990.98?Cardiomyopathy,hypertrophic (Arimura -2007 Biochem Biophys Res Commun 362,281)138568)
OBSCN176.10.990.98Glioblastoma (Balakrishnan -2007 Cancer Res 67,3545)138568)
PAFAH1B1116.20.890.82Lissencephaly 1607432
PAFAH1B1116.20.890.82Subcortical laminar heterotopia,607432
PCSK5177.510.99No OMIM phenotype607432
PCSK5177.510.99?Low HDL cholesterol (Motazacker -2013 Arterioscler Thromb Vasc Biol 33,1521)607432
PCSK5177.510.99?VACTERL (Nakamura -2015 BMC Res Notes 8,228)607432
PDE2A121.30.990.99No OMIM phenotype607432
PDLIM3173.911No OMIM phenotype607432
PDLIM3173.911Cardiomyopathy,dilated (Arola -2007 Mol Genet Metab 90,435607432
PDLIM3173.911?Cardiomyopathy, hypertrophic (Bagnall -2010 Int J Cardiol 145,601)607432
PITX2155.70.990.97Axenfeld-Rieger syndrome, type 1180500
PITX2155.70.990.97Iridogoniodysgenesis, type 2137600
PITX2155.70.990.97Peters anomaly,604229
PITX2155.70.990.97Ring dermoid of cornea,180550
PKD128.20.420.33Polycystic kidney disease, adult type I,173900
PKD1L1133.70.990.99No OMIM phenotype173900
PKD1L1133.70.990.99{Subarachnoid haemorrhage,association with} (Yamada -2006 Arterioscler Thromb Vasc Biol 26,1920)173900
PKP2107.40.960.9Arrhythmogenic right ventricular dysplasia 9609040
PKP4137.40.970.93No OMIM phenotype609040
PLA2G7137.20.990.97Platelet-activating factor acetylhydrolase deficiency,614278
PLA2G7137.20.990.97{Asthma, susceptibility to},600807
PLA2G7137.20.990.97{Atopy, susceptibility to},147050
PLEC114.20.990.98Epidermolysis bullosa simplex with muscular dystrophy,226670
PLEC114.20.990.98Epidermolysis bullosa simplex with pyloric atresia,612138
PLEC114.20.990.98Epidermolysis bullosa simplex, Ogna type,131950
PLEC114.20.990.98Muscular dystrophy, limb-girdle, type 2Q,613723
PLEC114.20.990.98?Epidermolysis bullosa simplex with nail dystrophy,616487
PLN209.911Cardiomyopathy, dilated, 1P,609909
PLN209.911Cardiomyopathy, hypertrophic, 18613874
PLXND11350.960.93No OMIM phenotype613874
PLXND11350.960.93Moebius syndrome (Tomas-Roca -2015 Nat Commun 6)613874
PLXND11350.960.93Truncus arteriosus (Ta-Shma -2013 Am J Med Genet A 161,3115)613874
PLXND11350.960.93{Diabetic nephropathy,association with} (McKnight -2009 Hugo J 3,77)613874
PNN156.80.990.96No OMIM phenotype613874
PPARGC1A166.30.990.98No OMIM phenotype613874
PPARGC1A166.30.990.98{Diabetes, type 2 association with}(Ek -2001 Diabetologia 44,2220)613874
PRDM1180.110.99No OMIM phenotype613874
PRDM1180.110.99{Chrohn's disease,increased risk,association with} (Ellinghaus -2013 Gastroenterology 145,339613874
PRDM1180.110.99{Ulcerative colitis,reduced risk,association with} (Ellinghaus -2013 Gastroenterology 145,339613874
PRDM1180.110.99?Colorectal cancer (Zhang -2015 World J Gastroenterol 21,4136)613874
PRDM1180.110.99?Truncus arteriosus (Shaheen -2015 J Med Genet 52,322)613874
PRDM16169.20.990.98Cardiomyopathy, dilated, 1LL,615373
PRDM16169.20.990.98Left ventricular noncompaction 8615373
PRICKLE1137.211Epilepsy, progressive myoclonic 1B,612437
PRKAG21470.970.93Cardiomyopathy, hypertrophic 6600858
PRKAG21470.970.93Glycogen storage disease of heart, lethal congenital,261740
PRKAG21470.970.93Wolff-Parkinson-White syndrome,194200
PRKG1135.40.980.94Aortic aneurysm, familial thoracic 8615436
PSKH1252.911No OMIM phenotype615436
PTK7168.610.99No OMIM phenotype615436
PTK7168.610.99?Autism (Sanders -2012 Nature 485,237)615436
PTK7168.610.99?Neural tube defects (Wang -2015 Birth Defects Res A Clin Mol Teratol epub)615436
PTPLA67.50.720.61No OMIM phenotype615436
PTPLA67.50.720.61?Myopathy,congenital (Muhammad -2013 Hum Mol Genet 22,5229)615436
PTPN11101.20.960.9LEOPARD syndrome 1151100
PTPN11101.20.960.9Leukemia, juvenile myelomonocytic, somatic,607785
PTPN11101.20.960.9Metachondromatosis,156250
PTPN11101.20.960.9Noonan syndrome 1163950
PTPN22148.40.970.9{Diabetes, type 1 susceptibility to},222100
PTPN22148.40.970.9{Rheumatoid arthritis, susceptibility to},180300
PTPN22148.40.970.9{Systemic lupus erythematosus susceptibility to},152700
PTPRC115.80.930.86Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive,608971
PTPRC115.80.930.86{Hepatitic C virus, susceptibility to},609532
PTPRM167.910.99No OMIM phenotype609532
RAF113810.99Cardiomyopathy, dilated, 1NN,615916
RAF113810.99LEOPARD syndrome 2611554
RAF113810.99Noonan syndrome 5611553
RANGRF109.60.990.97No OMIM phenotype611553
RANGRF109.60.990.97Brugada syndrome (Selga -2015 PLoS One 10,e132888
RANGRF109.60.990.97Histiocytoid cardiomyopathy (Cataldo -2014132888
RBM201950.990.96Cardiomyopathy, dilated, 1DD,613172
RIT1184.411Noonan syndrome 8615355
ROBO1189.90.990.99No OMIM phenotype615355
ROBO1189.90.990.99Breast and colorectal cancer (Villacis -2015 Tumour Biol epub, epub)615355
ROBO1189.90.990.99?Developmental dyslexia (Hannula-Jouppi -2005 PLoS Genet 1,e50)615355
ROBO1189.90.990.99?Congenital anomalies of the kidney and urinary tract (Nicolaou -2015 Kidney Int 89 476)615355
ROBO2158.80.980.97Vesicoureteral reflux 2610878
RPSA89.810.99Asplenia, isolated congenital,271400
RYR2154.10.990.98Arrhythmogenic right ventricular dysplasia 2600996
RYR2154.10.990.98Ventricular tachycardia, catecholaminergic polymorphic, 1604772
SCN10A194.20.990.99Episodic pain syndrome, familial, 2615551
SCN1B180.20.970.96Atrial fibrillation, familial, 13615377
SCN1B180.20.970.96Brugada syndrome 5612838
SCN1B180.20.970.96Cardiac conduction defect, nonspecific,612838
SCN1B180.20.970.96Epilepsy, generalized, with febrile seizures plus, type 1604233
SCN2B218.311Atrial fibrillation, familial, 14615378
SCN3B162.511Atrial fibrillation, familial, 16613120
SCN3B162.511Brugada syndrome 7613120
SCN4B79.70.990.97Atrial fibrillation, familial, 17611819
SCN4B79.70.990.97Long QT syndrome-10,611819
SCN5A19610.99Atrial fibrillation, familial, 10614022
SCN5A19610.99Brugada syndrome 1601144
SCN5A19610.99Cardiomyopathy, dilated, 1E,601154
SCN5A19610.99Heart block, nonprogressive,113900
SCN5A19610.99Heart block, progressive, type IA,113900
SCN5A19610.99Long QT syndrome-3,603830
SCN5A19610.99Sick sinus syndrome 1608567
SCN5A19610.99Ventricular fibrillation, familial, 1603829
SCN5A19610.99{Sudden infant death syndrome, susceptibility to},272120
SCNN1B167.210.99Bronchiectasis with or without elevated sweat chloride 1211400
SCNN1B167.210.99Liddle syndrome,177200
SCNN1B167.210.99Pseudohypoaldosteronism, type I,264350
SCNN1G156.20.990.97Bronchiectasis with or without elevated sweat chloride 3613071
SCNN1G156.20.990.97Liddle syndrome,177200
SCNN1G156.20.990.97Pseudohypoaldosteronism, type I,264350
SCO2113.310.99Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1604377
SCO2113.310.99Myopia 6608908
SEMA3D161.70.980.96No OMIM phenotype608908
SEMA3D161.70.980.96Congenital heart defects (Sanchez-Castro -2015 Hum Mutat 36,30)608908
SEMA3D161.70.980.96Hirschsprung disease (Jiang -2015 Am J Hum Genet 96,581)608908
SEMA3D161.70.980.96?Total anomalous pulmonary venous connection (Degenhardt -2013 Nat Med 19,760)608908
SEMA3D161.70.980.96?Tetralogy of Fallot (Siversides -2012 PLoS Genet 8,e1002843 )
SGCA158.90.990.99Muscular dystrophy, limb-girdle, type 2D,608099
SGCB180.50.970.96Muscular dystrophy, limb-girdle, type 2E,604286
SGCD104.410.98Cardiomyopathy, dilated, 1L,606685
SGCD104.410.98Muscular dystrophy, limb-girdle, type 2F,601287
SGCE95.40.940.89Dystonia-11, myoclonic,159900
SGCG142.911Muscular dystrophy, limb-girdle, type 2C,253700
SHOC2148.90.990.98Noonan-like syndrome with loose anagen hair,607721
SHROOM3138.40.990.97No OMIM phenotype607721
SHROOM3138.40.990.97Heterotaxy (Tariq -2011 Genome Biol 12,R91)607721
SHROOM3138.40.990.97?Neural tube defects (Lemay -2015 J Med Genet 52,493)607721
SHROOM3138.40.990.97{Leukaemia risk,association with} (Rudd -2006 Blood 108,638)607721
SKI90.10.980.95Shprintzen-Goldberg syndrome,182212
SLC22A5164.511Carnitine deficiency, systemic primary,212140
SLC25A4152.111Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type),615418
SLC25A4152.111Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2615418
SLC25A4152.111Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2609283
SLC2A10171.210.99Arterial tortuosity syndrome,208050
SLC8A1219.60.990.98No OMIM phenotype208050
SLC8A1219.60.990.98{Colorectal cancer,increased risk,association with} (Peters -2012 Hum Genet 131,217)208050
SLC8A1219.60.990.98?Schizophrenia (Purcell -2014 Nature 506,185)208050
SLMAP141.80.930.85No OMIM phenotype208050
SLMAP141.80.930.85Brugada syndrome (Ishikawa -2012 Circ Arrhythm Electrophysiol epub)208050
SMAD2170.50.990.98No OMIM phenotype208050
SMAD2170.50.990.98Congenital heart disease (Zaidi -2013 Nature 498,220)208050
SMAD2170.50.990.98Arterial aneurysms and dissections (Micha -2015 Hum Mutat 36,1145)208050
SMAD2170.50.990.98Holoprosencephaly (Roessler -2008 Am J Hum Genet 83,18)208050
SMAD3142.20.990.98Loeys-Dietz syndrome 3613795
SMAD6101.50.890.78Aortic valve disease 2614823
SMARCA4156.70.990.98Coffin-Siris syndrome 4614609
SMARCA4156.70.990.98{Rhabdoid tumor predisposition syndrome 2},613325
SMYD11410.990.99No OMIM phenotype613325
SNTA1100.10.830.77Long QT syndrome 12612955
SNTB1135.10.990.99No OMIM phenotype612955
SNX17172.70.990.99No OMIM phenotype612955
SOD2233.911{Microvascular complications of diabetes 6},612634
SOS1106.90.960.9Noonan syndrome 4610733
SOS1106.90.960.9?Fibromatosis, gingival, 1135300
SUFU149.50.990.97Basal cell nevus syndrome,109400
SUFU149.50.990.97Medulloblastoma, desmoplastic,155255
SUFU149.50.990.97{Meningioma, familial, susceptibility to},607174
SYNE1156.80.990.99Emery-Dreifuss muscular dystrophy 4 autosomal dominant,612998
SYNE1156.80.990.99Spinocerebellar ataxia, autosomal recessive 8610743
SYNE2136.80.980.95Emery-Dreifuss muscular dystrophy 5 autosomal dominant,612999
SYNPO2195.10.990.99No OMIM phenotype612999
TAB1157.90.990.99No OMIM phenotype612999
TAB2228.80.990.96Congenital heart defects, nonsyndromic, 2614980
TAZ126.310.98Barth syndrome,302060
TBC1D3287.10.960.9No OMIM phenotype302060
TBC1D3287.10.960.9Oro-facio-digital syndrome type IX (Adly -2014 Hum Mutat 35 36)302060
TBX186.70.770.66Conotruncal anomaly face syndrome,217095
TBX186.70.770.66DiGeorge syndrome,188400
TBX186.70.770.66Tetralogy of Fallot,187500
TBX186.70.770.66Velocardiofacial syndrome,192430
TBX201370.990.99Atrial septal defect 4611363
TBX397.90.990.96Ulnar-mammary syndrome,181450
TBX5158.610.99Holt-Oram syndrome,142900
TCAP89.211Cardiomyopathy, hypertrophic, 25607487
TCAP89.211Muscular dystrophy, limb-girdle, type 2G,601954
TDGF1163.90.980.92Forebrain defects601954
TFAP2B139.80.980.95Char syndrome,169100
TFAP2B139.80.980.95Patent ductus arteriosus 2617035
TGFB189.20.990.97Camurati-Engelmann disease,131300
TGFB189.20.990.97{Cystic fibrosis lung disease, modifier of},219700
TGFB2182.210.99Loeys-Dietz syndrome 4614816
TGFB3177.810.99Arrhythmogenic right ventricular dysplasia 1107970
TGFB3177.810.99Loeys-Dietz syndrome 5615582
TGFBR1213.80.950.93Loeys-Dietz syndrome 1609192
TGFBR1213.80.950.93{Multiple self-healing squamous epithelioma, susceptibility to},132800
TGFBR2215.311Colorectal cancer, hereditary nonpolyposis, type 6614331
TGFBR2215.311Esophageal cancer, somatic,133239
TGFBR2215.311Loeys-Dietz syndrome 2610168
TLL116510.99Atrial septal defect 6613087
TMEM43136.510.99Arrhythmogenic right ventricular dysplasia 5604400
TMEM43136.510.99Emery-Dreifuss muscular dystrophy 7 AD,614302
TMEM6778.90.920.83COACH syndrome,216360
TMEM6778.90.920.83Joubert syndrome 6610688
TMEM6778.90.920.83Meckel syndrome 3607361
TMEM6778.90.920.83Nephronophthisis 11613550
TMEM6778.90.920.83{Bardet-Biedl syndrome 14 modifier of},615991
TMOD113010.99No OMIM phenotype615991
TMPO143.80.980.94?Cardiomyopathy, dilated, 1T,613740
TNF18.50.80.35{Asthma, susceptibility to},600807
TNF18.50.80.35{Dementia, vascular, susceptibility to}600807
TNF18.50.80.35{Malaria, cerebral, susceptibility to},611162
TNF18.50.80.35{Migraine without aura, susceptibility to},157300
TNF18.50.80.35{Septic shock, susceptibility to}157300
TNNC1221.411Cardiomyopathy, dilated, 1Z,611879
TNNC1221.411Cardiomyopathy, hypertrophic, 13613243
TNNI3111.40.990.91Cardiomyopathy, dilated, 1FF,613286
TNNI3111.40.990.91Cardiomyopathy, familial restrictive, 1115210
TNNI3111.40.990.91Cardiomyopathy, hypertrophic, 7613690
TNNI3111.40.990.91?Cardiomyopathy, dilated, 2A,611880
TNNI3K141.30.990.96?Cardiac conduction disease with or without dilated cardiomyopathy,616117
TNNT2115.511Cardiomyopathy, dilated, 1D,601494
TNNT2115.511Cardiomyopathy, familial restrictive, 3612422
TNNT2115.511Cardiomyopathy, hypertrophic, 2115195
TNNT2115.511Left ventricular noncompaction 6601494
TPM1165.50.990.98Cardiomyopathy, dilated, 1Y,611878
TPM1165.50.990.98Cardiomyopathy, hypertrophic, 3115196
TPM1165.50.990.98Left ventricular noncompaction 9611878
TRDN74.40.820.69Ventricular tachycardia, catecholaminergic polymorphic, 5 with or without muscle weakness,615441
TRIM63152.110.99No OMIM phenotype615441
TRIM63152.110.99Hypertrophic cardiomyopathy (Chen -2012 Circ Res 111,907)615441
TRPM4120.80.990.98Progressive familial heart block, type IB,604559
TTN2190.980.97Cardiomyopathy, dilated, 1G,604145
TTN2190.980.97Cardiomyopathy, familial hypertrophic, 9613765
TTN2190.980.97Muscular dystrophy, limb-girdle, type 2J,608807
TTN2190.980.97Myopathy, early-onset, with fatal cardiomyopathy,611705
TTN2190.980.97Myopathy, proximal, with early respiratory muscle involvement,603689
TTN2190.980.97Tibial muscular dystrophy, tardive,600334
TTR180.311Amyloidosis, hereditary, transthyretin-related,105210
TTR180.311Carpal tunnel syndrome, familial,115430
TTR180.311[Dystransthyretinemic hyperthyroxinemia],145680
VCL121.90.990.99Cardiomyopathy, dilated, 1W,611407
VCL121.90.990.99Cardiomyopathy, hypertrophic, 15613255
XIRP2147.310.99No OMIM phenotype613255
XIRP2147.310.99?Schizphrenia (Fromer -2014 Nature 506,179)613255
ZBTB14230.610.99No OMIM phenotype613255
ZBTB17152.211No OMIM phenotype613255
ZEB2181.510.99Mowat-Wilson syndrome,235730
ZFPM2221.70.990.9946XY sex reversal 9616067
ZFPM2221.70.990.99Diaphragmatic hernia 3610187
ZFPM2221.70.990.99Tetralogy of Fallot,187500
ZIC3121.510.99Congenital heart defects, nonsyndromic, 1 X-linked,306955
ZIC3121.510.99Heterotaxy, visceral, 1 X-linked306955
ZIC3121.510.99VACTERL association, X-linked,314390

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