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:
Gene | Median coverage | % covered > 10x | % covered > 20x | Associated Phenotype description and OMIM disease ID | |
---|---|---|---|---|---|
AARS2 | 132.9 | 0.99 | 0.98 | Combined oxidative phosphorylation deficiency 8 | 614096 |
AARS2 | 132.9 | 0.99 | 0.98 | Leukoencephalopathy, progressive, with ovarian failure, | 615889 |
ABCC6 | 113.8 | 0.93 | 0.92 | Arterial calcification, generalized, of infancy, 2 | 614473 |
ABCC6 | 113.8 | 0.93 | 0.92 | Pseudoxanthoma elasticum, | 264800 |
ABCC6 | 113.8 | 0.93 | 0.92 | Pseudoxanthoma elasticum, forme fruste, | 177850 |
ABCC9 | 177.1 | 1 | 0.99 | Atrial fibrillation, familial, 12 | 614050 |
ABCC9 | 177.1 | 1 | 0.99 | Cardiomyopathy, dilated, 1O, | 608569 |
ABCC9 | 177.1 | 1 | 0.99 | Hypertrichotic osteochondrodysplasia, | 239850 |
ACAN | 129 | 0.92 | 0.86 | Osteochondritis dissecans, short stature, and early-onset osteoarthritis, | 165800 |
ACAN | 129 | 0.92 | 0.86 | Spondyloepimetaphyseal dysplasia, aggrecan type, | 612813 |
ACAN | 129 | 0.92 | 0.86 | Spondyloepiphyseal dysplasia, Kimberley type, | 608361 |
ACE | 129.5 | 0.93 | 0.91 | Renal tubular dysgenesis, | 267430 |
ACE | 129.5 | 0.93 | 0.91 | [Angiotensin I-converting enzyme, benign serum increase] | 267430 |
ACE | 129.5 | 0.93 | 0.91 | {Microvascular complications of diabetes 3}, | 612624 |
ACE | 129.5 | 0.93 | 0.91 | {Myocardial infarction, susceptibility to} | 612624 |
ACE | 129.5 | 0.93 | 0.91 | {SARS, progression of} | 612624 |
ACE | 129.5 | 0.93 | 0.91 | {Stroke, hemorrhagic}, | 614519 |
ACSF3 | 146.5 | 1 | 0.99 | Combined malonic and methylmalonic aciduria, | 614265 |
ACTA2 | 166.5 | 1 | 0.99 | Aortic aneurysm, familial thoracic 6 | 611788 |
ACTA2 | 166.5 | 1 | 0.99 | Moyamoya disease 5 | 614042 |
ACTA2 | 166.5 | 1 | 0.99 | Multisystemic smooth muscle dysfunction syndrome, | 613834 |
ACTC1 | 178.9 | 1 | 0.99 | Atrial septal defect 5 | 612794 |
ACTC1 | 178.9 | 1 | 0.99 | Cardiomyopathy, dilated, 1R, | 613424 |
ACTC1 | 178.9 | 1 | 0.99 | Cardiomyopathy, hypertrophic, 11 | 612098 |
ACTC1 | 178.9 | 1 | 0.99 | Left ventricular noncompaction 4 | 613424 |
ACTN1 | 162.6 | 1 | 0.99 | Bleeding disorder, platelet-type, 15 | 615193 |
ACTN2 | 175.5 | 1 | 1 | Cardiomyopathy, dilated, 1AA, with or without LVNC, | 612158 |
ACTN2 | 175.5 | 1 | 1 | Cardiomyopathy, hypertrophic, 23 with or without LVNC, | 612158 |
ACVR1 | 180.1 | 1 | 0.99 | Fibrodysplasia ossificans progressiva, | 135100 |
ACVR2B | 164.8 | 0.98 | 0.93 | Heterotaxy, visceral, 4 autosomal, | 613751 |
ADAMTS6 | 183.9 | 0.99 | 0.98 | No OMIM phenotype | 613751 |
ADAMTS6 | 183.9 | 0.99 | 0.98 | ?Schizophrenia (Fromer -2014 Nature 506,179) | 613751 |
ADAMTS9 | 163.2 | 0.97 | 0.96 | No OMIM phenotype | 613751 |
ADRB1 | 155.9 | 0.95 | 0.87 | [Resting heart rate], | 607276 |
ADRB1 | 155.9 | 0.95 | 0.87 | {Congestive heart failure and beta-blocker response, modifier of} | 607276 |
ADRB2 | 150 | 1 | 1 | Beta-2-adrenoreceptor agonist, reduced response to | 607276 |
ADRB2 | 150 | 1 | 1 | {Asthma, nocturnal, susceptibility to}, | 600807 |
ADRB2 | 150 | 1 | 1 | {Obesity, susceptibility to}, | 601665 |
AGL | 164.6 | 0.99 | 0.97 | Glycogen storage disease IIIa, | 232400 |
AGL | 164.6 | 0.99 | 0.97 | Glycogen storage disease IIIb, | 232400 |
AGT | 205 | 1 | 1 | Renal tubular dysgenesis, | 267430 |
AGT | 205 | 1 | 1 | {Hypertension, essential, susceptibility to}, | 145500 |
AGT | 205 | 1 | 1 | {Preeclampsia, susceptibility to} | 145500 |
AGTR1 | 159.8 | 1 | 0.99 | Renal tubular dysgenesis, | 267430 |
AGTR1 | 159.8 | 1 | 0.99 | {Hypertension, essential}, | 145500 |
AKAP9 | 107.2 | 0.97 | 0.93 | ?Long QT syndrome-11, | 611820 |
ALDH1A2 | 134.8 | 0.99 | 0.99 | No OMIM phenotype | 611820 |
ALDH1A2 | 134.8 | 0.99 | 0.99 | Tetralogy of Fallot (Pavan -2009 BMC Med Genet 10 113) | 611820 |
ALDH1A2 | 134.8 | 0.99 | 0.99 | Pentalogy of Cantrell (Steiner -2013 J Med Case Rep 7,287) | 611820 |
ALDH1A2 | 134.8 | 0.99 | 0.99 | ?Congenital anomalies of the kidney and urinary tract (Nicolaou -2015 Kidney Int 89,476) | 611820 |
ALMS1 | 197.7 | 0.99 | 0.99 | Alstrom syndrome, | 203800 |
ANK2 | 171.1 | 1 | 0.99 | Cardiac arrhythmia, ankyrin-B-related, | 600919 |
ANK2 | 171.1 | 1 | 0.99 | Long QT syndrome 4 | 600919 |
ANKRD1 | 126.8 | 0.96 | 0.93 | No OMIM phenotype | 600919 |
ANKRD1 | 126.8 | 0.96 | 0.93 | Cardiomyopathy,hypertrophic (Arimura -2009 J Am Coll Cardiol 54,334) | 600919 |
ANKRD1 | 126.8 | 0.96 | 0.93 | Cardiomyopathy,dilated (Duboscq-Bidot -2009 Eur Heart J 30,2128) | 600919 |
ANKRD1 | 126.8 | 0.96 | 0.93 | ?Total anomalous pulmonary venous return (Cinquetti -2008 Hum Mutat 29,468) | 600919 |
ANKRD1 | 126.8 | 0.96 | 0.93 | ?Neurodevelopmental disorder (Handrigan -2013 J Med Genet 50,163) | 600919 |
ANKS6 | 99.5 | 0.93 | 0.89 | Nephronophthisis 16 | 615382 |
AP1B1 | 188.4 | 0.99 | 0.98 | No OMIM phenotype | 615382 |
AP2B1 | 132.9 | 0.99 | 0.98 | No OMIM phenotype | 615382 |
APBB1 | 150.8 | 1 | 0.99 | No OMIM phenotype | 615382 |
APBB1 | 150.8 | 1 | 0.99 | {Dementia alzheimer type,lower risk,association} (Hu -1998 Hum Genet 103,295) | 615382 |
ARMC4 | 135.5 | 0.91 | 0.89 | Ciliary dyskinesia, primary, 23 | 615451 |
ATP1A4 | 183.2 | 1 | 1 | No OMIM phenotype | 615451 |
BAG3 | 131.2 | 1 | 0.99 | Cardiomyopathy, dilated, 1HH, | 613881 |
BAG3 | 131.2 | 1 | 0.99 | Myopathy, myofibrillar, 6 | 612954 |
BICC1 | 177.2 | 0.99 | 0.99 | {Renal dysplasia, cystic, susceptibility to}, | 601331 |
BMPR2 | 218.1 | 1 | 0.99 | Pulmonary hypertension, familial primary, 1 with or without HHT, | 178600 |
BMPR2 | 218.1 | 1 | 0.99 | Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated, | 178600 |
BMPR2 | 218.1 | 1 | 0.99 | Pulmonary venoocclusive disease 1 | 265450 |
BRAF | 77 | 0.89 | 0.79 | Adenocarcinoma of lung, somatic, | 211980 |
BRAF | 77 | 0.89 | 0.79 | Cardiofaciocutaneous syndrome, | 115150 |
BRAF | 77 | 0.89 | 0.79 | Colorectal cancer, somatic | 115150 |
BRAF | 77 | 0.89 | 0.79 | LEOPARD syndrome 3 | 613707 |
BRAF | 77 | 0.89 | 0.79 | Melanoma, malignant, somatic | 613707 |
BRAF | 77 | 0.89 | 0.79 | Nonsmall cell lung cancer, somatic | 613707 |
BRAF | 77 | 0.89 | 0.79 | Noonan syndrome 7 | 613706 |
C1orf127 | 111.8 | 0.99 | 0.97 | No OMIM phenotype | 613706 |
C1orf127 | 111.8 | 0.99 | 0.97 | ?Autism (Lim -2013 Neuron 77,235) | 613706 |
C5orf42 | 136.5 | 0.98 | 0.94 | Joubert syndrome 17 | 614615 |
C5orf42 | 136.5 | 0.98 | 0.94 | Orofaciodigital syndrome VI, | 277170 |
CACNA1B | 156.8 | 0.94 | 0.91 | ?Dystonia 23 | 614860 |
CACNA1C | 174.2 | 0.99 | 0.99 | Brugada syndrome 3 | 611875 |
CACNA1C | 174.2 | 0.99 | 0.99 | Timothy syndrome, | 601005 |
CACNA1D | 171.6 | 1 | 0.99 | Primary aldosteronism, seizures, and neurologic abnormalities, | 615474 |
CACNA1D | 171.6 | 1 | 0.99 | Sinoatrial node dysfunction and deafness, | 614896 |
CACNA2D1 | 97.3 | 0.91 | 0.84 | No OMIM phenotype | 614896 |
CACNA2D1 | 97.3 | 0.91 | 0.84 | Brugada syndrome (Burashnikov -2010 Heart Rhythm 7,1872) | 614896 |
CACNA2D1 | 97.3 | 0.91 | 0.84 | Short QT syndrome (Templin -2011 Eur Heart J 32,1077) | 614896 |
CACNA2D1 | 97.3 | 0.91 | 0.84 | Histiocytoid cardiomyopathy (Cataldo -2014 Cardiol Young epub) | 614896 |
CACNA2D1 | 97.3 | 0.91 | 0.84 | West syndrome (Hino-Fukuyo -2015 Hum Genet 134,649) | 614896 |
CACNB2 | 163 | 0.99 | 0.97 | Brugada syndrome 4 | 611876 |
CALM1 | 153.1 | 1 | 0.99 | Long QT syndrome 14 | 616247 |
CALM1 | 153.1 | 1 | 0.99 | Ventricular tachycardia, catecholaminergic polymorphic, 4 | 614916 |
CALM2 | 58.6 | 0.68 | 0.66 | Long QT syndrome 15 | 616249 |
CALM3 | 126.1 | 0.99 | 0.99 | No OMIM phenotype | 616249 |
CALM3 | 126.1 | 0.99 | 0.99 | Catecholaminergic polymorphic ventricular tachycardia (Boczek -2013 Circulation 128,A14699) | 616249 |
CALM3 | 126.1 | 0.99 | 0.99 | Long QT syndrome (Reed -2015 Heart Rhythm 12,419) | 616249 |
CALM3 | 126.1 | 0.99 | 0.99 | {Cardiomyopathy,hypertrophic,modifier of} (Friedrich -2009 Eur Heart J 30,1648) | 616249 |
CALR3 | 168.9 | 1 | 0.99 | ?Cardiomyopathy, hypertrophic, 19 | 613875 |
CAPN3 | 132.6 | 0.99 | 0.97 | Muscular dystrophy, limb-girdle, type 2A, | 253600 |
CASQ2 | 164.8 | 1 | 0.99 | Ventricular tachycardia, catecholaminergic polymorphic, 2 | 611938 |
CAV3 | 297.8 | 1 | 1 | Cardiomyopathy, familial hypertrophic, | 192600 |
CAV3 | 297.8 | 1 | 1 | Creatine phosphokinase, elevated serum, | 123320 |
CAV3 | 297.8 | 1 | 1 | Long QT syndrome 9 | 611818 |
CAV3 | 297.8 | 1 | 1 | Muscular dystrophy, limb-girdle, type IC, | 607801 |
CAV3 | 297.8 | 1 | 1 | Myopathy, distal, Tateyama type, | 614321 |
CAV3 | 297.8 | 1 | 1 | Rippling muscle disease, | 606072 |
CBL | 145.2 | 0.99 | 0.98 | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, | 613563 |
CBL | 145.2 | 0.99 | 0.98 | ?Juvenile myelomonocytic leukemia, | 607785 |
CBS | 127.1 | 0.97 | 0.92 | Homocystinuria, B6-responsive and nonresponsive types, | 236200 |
CBS | 127.1 | 0.97 | 0.92 | Thrombosis, hyperhomocysteinemic, | 236200 |
CC2D2A | 137.5 | 0.98 | 0.96 | COACH syndrome, | 216360 |
CC2D2A | 137.5 | 0.98 | 0.96 | Joubert syndrome 9 | 612285 |
CC2D2A | 137.5 | 0.98 | 0.96 | Meckel syndrome 6 | 612284 |
CCDC151 | 132 | 0.99 | 0.98 | Ciliary dyskinesia, primary, 30 | 616037 |
CCDC39 | 90.9 | 0.96 | 0.9 | Ciliary dyskinesia, primary, 14 | 613807 |
CDKN1C | 35 | 0.75 | 0.6 | Beckwith-Wiedemann syndrome, | 130650 |
CDKN1C | 35 | 0.75 | 0.6 | IMAGE syndrome, | 614732 |
CEP290 | 77.4 | 0.88 | 0.77 | Joubert syndrome 5 | 610188 |
CEP290 | 77.4 | 0.88 | 0.77 | Leber congenital amaurosis 10 | 611755 |
CEP290 | 77.4 | 0.88 | 0.77 | Meckel syndrome 4 | 611134 |
CEP290 | 77.4 | 0.88 | 0.77 | Senior-Loken syndrome 6 | 610189 |
CEP290 | 77.4 | 0.88 | 0.77 | ?Bardet-Biedl syndrome 14 | 615991 |
CFC1 | 61.2 | 0.78 | 0.65 | Heterotaxy, visceral, 2 autosomal, | 605376 |
CHD7 | 161 | 0.99 | 0.98 | CHARGE syndrome, | 214800 |
CHD7 | 161 | 0.99 | 0.98 | Hypogonadotropic hypogonadism 5 with or without anosmia, | 612370 |
CITED2 | 131.1 | 1 | 0.99 | Atrial septal defect 8 | 614433 |
CITED2 | 131.1 | 1 | 0.99 | Ventricular septal defect 2 | 614431 |
CNTF | 120.2 | 1 | 1 | No OMIM phenotype | 614431 |
CNTF | 120.2 | 1 | 1 | {Ciliary neurotrophic factor deficiency} (Takahashi -1994 Nat Genet 7,79) | 614431 |
CNTRL | 128.6 | 0.98 | 0.95 | No OMIM phenotype | 614431 |
COL3A1 | 115.8 | 0.95 | 0.88 | Ehlers-Danlos syndrome, type IV, | 130050 |
COL4A1 | 101.8 | 0.98 | 0.93 | Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, | 611773 |
COL4A1 | 101.8 | 0.98 | 0.93 | Brain small vessel disease with or without ocular anomalies, | 607595 |
COL4A1 | 101.8 | 0.98 | 0.93 | Porencephaly 1 | 175780 |
COL4A1 | 101.8 | 0.98 | 0.93 | ?Retinal arteries, tortuosity of, | 180000 |
COL4A1 | 101.8 | 0.98 | 0.93 | {Hemorrhage, intracerebral, susceptibility to}, | 614519 |
COL5A1 | 125.6 | 0.97 | 0.95 | Ehlers-Danlos syndrome, classic type, | 130000 |
COL5A2 | 93.4 | 0.99 | 0.96 | Ehlers-Danlos syndrome, classic type, | 130000 |
CRELD1 | 120.6 | 0.99 | 0.99 | Atrioventricular septal defect, partial, with heterotaxy syndrome, | 606217 |
CRELD1 | 120.6 | 0.99 | 0.99 | {Atrioventricular septal defect, susceptibility to, 2}, | 606217 |
CRKL | 174.7 | 1 | 0.99 | No OMIM phenotype | 606217 |
CRKL | 174.7 | 1 | 0.99 | ?Congenital heart defect (Breckpot -2012 Am J Med Genet A 158A,574) | 606217 |
CRKL | 174.7 | 1 | 0.99 | ?Tetralogy of Fallot (Tomita-Mitchell -2012 Physiol Genomics 44,518) | 606217 |
CRKL | 174.7 | 1 | 0.99 | ?Ventricular septal defect (Zhao -2013 Am J Med Genet A 161,3087 | 606217 |
CRYAB | 131.2 | 0.99 | 0.97 | Cardiomyopathy, dilated, 1II, | 615184 |
CRYAB | 131.2 | 0.99 | 0.97 | Cataract 16 multiple types, | 613763 |
CRYAB | 131.2 | 0.99 | 0.97 | Myopathy, myofibrillar, 2 | 608810 |
CRYAB | 131.2 | 0.99 | 0.97 | Myopathy, myofibrillar, fatal infantile hypertrophy, alpha-B crystallin-related, | 613869 |
CSRP3 | 122.1 | 1 | 0.99 | Cardiomyopathy, hypertrophic, 12 | 612124 |
CSRP3 | 122.1 | 1 | 0.99 | ?Cardiomyopathy, dilated, 1M, | 607482 |
CTBP2 | 104.1 | 0.99 | 0.96 | No OMIM phenotype | 607482 |
CTBP2 | 104.1 | 0.99 | 0.96 | ?Congenital heart disease (Glessner -2014 Circ Res 115,884) | 607482 |
CTF1 | 26.8 | 0.3 | 0.21 | No OMIM phenotype | 607482 |
CTF1 | 26.8 | 0.3 | 0.21 | Cardiomyopathy,dilated (Erdmann -2000 Hum Mutat 16,448) | 607482 |
CTLA4 | 227.1 | 1 | 1 | Autoimmune lymphoproliferative syndrome, type V, | 616100 |
CTLA4 | 227.1 | 1 | 1 | {Celiac disease, susceptibility to, 3}, | 609755 |
CTLA4 | 227.1 | 1 | 1 | {Diabetes mellitus, insulin-dependent, 12}, | 601388 |
CTLA4 | 227.1 | 1 | 1 | {Hashimoto thyroiditis}, | 140300 |
CTLA4 | 227.1 | 1 | 1 | {Systemic lupus erythematosus, susceptibility to}, | 152700 |
CTNNA3 | 167.6 | 1 | 0.99 | Arrhythmogenic right ventricular dysplasia, familial, 13 | 615616 |
CXADR | 89 | 0.92 | 0.87 | No OMIM phenotype | 615616 |
CXCR4 | 210.4 | 1 | 0.99 | Myelokathexis, isolated | 615616 |
CXCR4 | 210.4 | 1 | 0.99 | WHIM syndrome, | 193670 |
CYP11B2 | 185.8 | 1 | 0.99 | Aldosterone to renin ratio raised | 193670 |
CYP11B2 | 185.8 | 1 | 0.99 | Hypoaldosteronism, congenital, due to CMO I deficiency, | 203400 |
CYP11B2 | 185.8 | 1 | 0.99 | Hypoaldosteronism, congenital, due to CMO II deficiency, | 610600 |
CYP11B2 | 185.8 | 1 | 0.99 | {Low renin hypertension, susceptibility to} | 610600 |
DAW1 | 185.3 | 0.99 | 0.95 | No OMIM phenotype | 610600 |
DCTN5 | 128.4 | 0.98 | 0.92 | No OMIM phenotype | 610600 |
DDX39B | 18.8 | 0.71 | 0.33 | No OMIM phenotype | 610600 |
DDX39B | 18.8 | 0.71 | 0.33 | {Leprosy,susceptibility to,association with} (Ali -2012 Hum Genet 131,703) | 610600 |
DES | 138.3 | 0.99 | 0.98 | Cardiomyopathy, dilated, 1I, | 604765 |
DES | 138.3 | 0.99 | 0.98 | Myopathy, myofibrillar, 1 | 601419 |
DES | 138.3 | 0.99 | 0.98 | Scapuloperoneal syndrome, neurogenic, Kaeser type, | 181400 |
DES | 138.3 | 0.99 | 0.98 | ?Muscular dystrophy, limb-girdle, type 2R, | 615325 |
DMD | 147.3 | 0.99 | 0.97 | Becker muscular dystrophy, | 300376 |
DMD | 147.3 | 0.99 | 0.97 | Cardiomyopathy, dilated, 3B, | 302045 |
DMD | 147.3 | 0.99 | 0.97 | Duchenne muscular dystrophy, | 310200 |
DNAAF3 | 97.1 | 0.98 | 0.92 | Ciliary dyskinesia, primary, 2 | 606763 |
DNAH11 | 150.4 | 0.99 | 0.98 | Ciliary dyskinesia, primary, 7 with or without situs inversus, | 611884 |
DNAH5 | 144.4 | 0.99 | 0.98 | Ciliary dyskinesia, primary, 3 with or without situs inversus, | 608644 |
DNAI1 | 130.3 | 0.98 | 0.97 | Ciliary dyskinesia, primary, 1 with or without situs inversus, | 244400 |
DNAJC19 | 105.3 | 0.97 | 0.9 | 3-methylglutaconic aciduria, type V, | 610198 |
DNM2 | 143.2 | 0.98 | 0.96 | Charcot-Marie-Tooth disease, axonal, type 2M, | 606482 |
DNM2 | 143.2 | 0.98 | 0.96 | Charcot-Marie-Tooth disease, dominant intermediate B, | 606482 |
DNM2 | 143.2 | 0.98 | 0.96 | Lethal congenital contracture syndrome 5 | 615368 |
DNM2 | 143.2 | 0.98 | 0.96 | Myopathy, centronuclear, | 160150 |
DOLK | 201.8 | 0.99 | 0.99 | Congenital disorder of glycosylation, type Im, | 610768 |
DPP6 | 157.8 | 0.98 | 0.95 | Mental retardation, autosomal dominant 33 | 616311 |
DPP6 | 157.8 | 0.98 | 0.95 | {Ventricular fibrillation, paroxysmal familial, 2}, | 612956 |
DRC1 | 105.8 | 0.99 | 0.97 | Ciliary dyskinesia, primary, 21 | 615294 |
DSC2 | 154.4 | 0.98 | 0.94 | Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, | 615294 |
DSC2 | 154.4 | 0.98 | 0.94 | Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, | 610476 |
DSC2 | 154.4 | 0.98 | 0.94 | Arrhythmogenic right ventricular dysplasia 11 | 610476 |
DSG2 | 150.7 | 0.99 | 0.98 | Arrhythmogenic right ventricular dysplasia 10 | 610193 |
DSG2 | 150.7 | 0.99 | 0.98 | Cardiomyopathy, dilated, 1BB, | 612877 |
DSP | 161.9 | 0.99 | 0.99 | Arrhythmogenic right ventricular dysplasia 8 | 607450 |
DSP | 161.9 | 0.99 | 0.99 | Cardiomyopathy, dilated, with woolly hair and keratoderma, | 605676 |
DSP | 161.9 | 0.99 | 0.99 | Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, | 615821 |
DSP | 161.9 | 0.99 | 0.99 | Epidermolysis bullosa, lethal acantholytic, | 609638 |
DSP | 161.9 | 0.99 | 0.99 | Keratosis palmoplantaris striata II, | 612908 |
DSP | 161.9 | 0.99 | 0.99 | Skin fragility-woolly hair syndrome, | 607655 |
DTNA | 184.1 | 1 | 1 | Left ventricular noncompaction 1 with or without congenital heart defects, | 604169 |
DYNC2H1 | 102.9 | 0.95 | 0.86 | Short-rib thoracic dysplasia 3 with or without polydactyly, | 613091 |
DYX1C1 | 88.3 | 0.97 | 0.85 | Ciliary dyskinesia, primary, 25 | 615482 |
DYX1C1 | 88.3 | 0.97 | 0.85 | {Dyslexia, susceptibility to, 1}, | 127700 |
EDN1 | 158.5 | 1 | 1 | Auriculocondylar syndrome 3 | 615706 |
EDN1 | 158.5 | 1 | 1 | Question mark ears, isolated, | 612798 |
EDN1 | 158.5 | 1 | 1 | {High density lipoprotein cholesterol level QTL 7} | 612798 |
EDNRA | 226.9 | 0.99 | 0.99 | Mandibulofacial dysostosis with alopecia, | 616367 |
EDNRA | 226.9 | 0.99 | 0.99 | {Migraine, resistance to}, | 157300 |
EDNRB | 143.9 | 0.95 | 0.91 | ABCD syndrome, | 600501 |
EDNRB | 143.9 | 0.95 | 0.91 | Waardenburg syndrome, type 4A, | 277580 |
EDNRB | 143.9 | 0.95 | 0.91 | {Hirschsprung disease, susceptibility to, 2}, | 600155 |
EFEMP2 | 139.9 | 1 | 1 | Cutis laxa, autosomal recessive, type IB, | 614437 |
ELN | 111.9 | 0.99 | 0.98 | Cutis laxa, AD, | 123700 |
ELN | 111.9 | 0.99 | 0.98 | Supravalvar aortic stenosis, | 185500 |
EMD | 113.7 | 0.99 | 0.96 | Emery-Dreifuss muscular dystrophy 1 X-linked, | 310300 |
ETS1 | 136.6 | 0.99 | 0.98 | No OMIM phenotype | 310300 |
ETS1 | 136.6 | 0.99 | 0.98 | Congenital heart disease (Glessner -2014 Circ Res 115,884) | 310300 |
EYA4 | 176.1 | 1 | 0.99 | Cardiomyopathy, dilated, 1J, | 605362 |
EYA4 | 176.1 | 1 | 0.99 | Deafness, autosomal dominant 10 | 601316 |
FBN1 | 185.2 | 0.99 | 0.99 | Acromicric dysplasia, | 102370 |
FBN1 | 185.2 | 0.99 | 0.99 | Aortic aneurysm, ascending, and dissection | 102370 |
FBN1 | 185.2 | 0.99 | 0.99 | Ectopia lentis, familial, | 129600 |
FBN1 | 185.2 | 0.99 | 0.99 | Geleophysic dysplasia 2 | 614185 |
FBN1 | 185.2 | 0.99 | 0.99 | Marfan lipodystrophy syndrome, | 616914 |
FBN1 | 185.2 | 0.99 | 0.99 | Marfan syndrome, | 154700 |
FBN1 | 185.2 | 0.99 | 0.99 | MASS syndrome, | 604308 |
FBN1 | 185.2 | 0.99 | 0.99 | Stiff skin syndrome, | 184900 |
FBN1 | 185.2 | 0.99 | 0.99 | Weill-Marchesani syndrome 2 dominant, | 608328 |
FBN2 | 179.5 | 0.99 | 0.99 | Contractural arachnodactyly, congenital, | 121050 |
FBN2 | 179.5 | 0.99 | 0.99 | Macular degeneration, early-onset, | 616118 |
FHL1 | 101.9 | 0.98 | 0.9 | Emery-Dreifuss muscular dystrophy 6 X-linked, | 300696 |
FHL1 | 101.9 | 0.98 | 0.9 | Hemophagocytic lymphohistiocytosis, familial, 1 | 300696 |
FHL1 | 101.9 | 0.98 | 0.9 | Myopathy, X-linked, with postural muscle atrophy, | 300696 |
FHL1 | 101.9 | 0.98 | 0.9 | Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset, | 300717 |
FHL1 | 101.9 | 0.98 | 0.9 | Reducing body myopathy, X-linked 1b, with late childhood or adult onset, | 300718 |
FHL1 | 101.9 | 0.98 | 0.9 | Scapuloperoneal myopathy, X-linked dominant, | 300695 |
FHL2 | 171.9 | 0.99 | 0.98 | No OMIM phenotype | 300695 |
FHL2 | 171.9 | 0.99 | 0.98 | Cardiomyopathy,hypertrophic (Friedrich -2014 Basic Res Cardiol 109,451) | 300695 |
FHL2 | 171.9 | 0.99 | 0.98 | ?Distal myopathy (Evila -2016 Neuromuscul Disord 26,7) | 300695 |
FKTN | 157.4 | 0.98 | 0.93 | Cardiomyopathy, dilated, 1X, | 611615 |
FKTN | 157.4 | 0.98 | 0.93 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 | 253800 |
FKTN | 157.4 | 0.98 | 0.93 | Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4 | 613152 |
FKTN | 157.4 | 0.98 | 0.93 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 | 611588 |
FLNA | 161.1 | 0.99 | 0.99 | Cardiac valvular dysplasia, X-linked, | 314400 |
FLNA | 161.1 | 0.99 | 0.99 | Congenital short bowel syndrome, | 300048 |
FLNA | 161.1 | 0.99 | 0.99 | FG syndrome 2 | 300321 |
FLNA | 161.1 | 0.99 | 0.99 | Frontometaphyseal dysplasia, | 305620 |
FLNA | 161.1 | 0.99 | 0.99 | Heterotopia, periventricular, | 300049 |
FLNA | 161.1 | 0.99 | 0.99 | Heterotopia, periventricular, ED variant, | 300537 |
FLNA | 161.1 | 0.99 | 0.99 | Intestinal pseudoobstruction, neuronal, | 300048 |
FLNA | 161.1 | 0.99 | 0.99 | Melnick-Needles syndrome, | 309350 |
FLNA | 161.1 | 0.99 | 0.99 | Otopalatodigital syndrome, type I, | 311300 |
FLNA | 161.1 | 0.99 | 0.99 | Otopalatodigital syndrome, type II, | 304120 |
FLNA | 161.1 | 0.99 | 0.99 | Terminal osseous dysplasia, | 300244 |
FLNC | 179.2 | 1 | 0.99 | Cardiomyopathy, familial hypertrophic, 26 | 300244 |
FLNC | 179.2 | 1 | 0.99 | Cardiomyopathy, familial restrictive 5 | 617047 |
FLNC | 179.2 | 1 | 0.99 | Myopathy, distal, 4 | 614065 |
FLNC | 179.2 | 1 | 0.99 | Myopathy, myofibrillar, 5 | 609524 |
FOXC2 | 54.5 | 0.96 | 0.85 | Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus, | 153400 |
FOXC2 | 54.5 | 0.96 | 0.85 | Lymphedema-distichiasis syndrome, | 153400 |
FOXH1 | 56.3 | 0.97 | 0.88 | No OMIM phenotype | 153400 |
FOXH1 | 56.3 | 0.97 | 0.88 | Congenital heart defects (Roessler -2008 Am J Hum Genet 83,18) | 153400 |
FOXH1 | 56.3 | 0.97 | 0.88 | Ventricular septal defect (Wang -2010 Int J Cardiol 145,83) | 153400 |
FOXJ1 | 79.1 | 0.98 | 0.95 | No OMIM phenotype | 153400 |
FOXL1 | 83.6 | 0.85 | 0.79 | No OMIM phenotype | 153400 |
FOXL1 | 83.6 | 0.85 | 0.79 | ?Hypoplastic left heart syndrome (Iascone -2012 Clin Genet 81,542) | 153400 |
FREM2 | 199.1 | 0.99 | 0.99 | Fraser syndrome, | 219000 |
FUZ | 116.7 | 1 | 0.99 | Neural tube defects, | 182940 |
FXN | 86.1 | 0.86 | 0.76 | Friedreich ataxia with retained reflexes, | 229300 |
FXN | 86.1 | 0.86 | 0.76 | Friedreich ataxia, | 229300 |
GAA | 126.1 | 1 | 0.99 | Glycogen storage disease II, | 232300 |
GATA4 | 89.1 | 0.71 | 0.62 | Atrial septal defect 2 | 607941 |
GATA4 | 89.1 | 0.71 | 0.62 | Atrioventricular septal defect 4 | 614430 |
GATA4 | 89.1 | 0.71 | 0.62 | Tetralogy of Fallot, | 187500 |
GATA4 | 89.1 | 0.71 | 0.62 | Ventricular septal defect 1 | 614429 |
GATA4 | 89.1 | 0.71 | 0.62 | ?Testicular anomalies with or without congenital heart disease, | 615542 |
GATA5 | 60.4 | 0.98 | 0.93 | No OMIM phenotype | 615542 |
GATA5 | 60.4 | 0.98 | 0.93 | Bicuspid aortic valve (Shi -2014 Int J Mol Med 33,1219) | 615542 |
GATA5 | 60.4 | 0.98 | 0.93 | Atrial septal defect (Jiang -2013 Int J Cardiol 165,570) | 615542 |
GATA5 | 60.4 | 0.98 | 0.93 | Atrial fibrillation (Gu -2012 Clinics (Sao Paulo) 67,1393) | 615542 |
GATA5 | 60.4 | 0.98 | 0.93 | Atrioventricular septal defect, Down-syndrome-related (Ackerman -2012 Am J Hum Genet 91,646) | 615542 |
GATA5 | 60.4 | 0.98 | 0.93 | Tetralogy of Fallot (Wei -2013 Int J Med Sci 10,34) | 615542 |
GATA5 | 60.4 | 0.98 | 0.93 | Cardiomyopathy,dilated (Zhang -2015 Int J Mol Med 35,763) | 615542 |
GATA6 | 59.3 | 0.84 | 0.7 | Atrial septal defect 9 | 614475 |
GATA6 | 59.3 | 0.84 | 0.7 | Atrioventricular septal defect 5 | 614474 |
GATA6 | 59.3 | 0.84 | 0.7 | Pancreatic agenesis and congenital heart defects, | 600001 |
GATA6 | 59.3 | 0.84 | 0.7 | Persistent truncus arteriosus, | 217095 |
GATA6 | 59.3 | 0.84 | 0.7 | Tetralogy of Fallot, | 187500 |
GATAD1 | 146.9 | 0.98 | 0.93 | ?Cardiomyopathy, dilated, 2B, | 614672 |
GDF1 | 27.7 | 0.78 | 0.59 | Double-outlet right ventricle, | 217095 |
GDF1 | 27.7 | 0.78 | 0.59 | Right atrial isomerism, | 208530 |
GDF1 | 27.7 | 0.78 | 0.59 | Tetralogy of Fallot, | 187500 |
GDF1 | 27.7 | 0.78 | 0.59 | Transposition of great arteries, dextro-looped 3 | 613854 |
GJA1 | 218.1 | 1 | 1 | Atrioventricular septal defect 3 | 600309 |
GJA1 | 218.1 | 1 | 1 | Craniometaphyseal dysplasia, autosomal recessive, | 218400 |
GJA1 | 218.1 | 1 | 1 | Erythrokeratodermia variabilis et progressiva, | 133200 |
GJA1 | 218.1 | 1 | 1 | Hypoplastic left heart syndrome 1 | 241550 |
GJA1 | 218.1 | 1 | 1 | Oculodentodigital dysplasia, | 164200 |
GJA1 | 218.1 | 1 | 1 | Oculodentodigital dysplasia, autosomal recessive, | 257850 |
GJA1 | 218.1 | 1 | 1 | Palmoplantar keratoderma with congenital alopecia, | 104100 |
GJA1 | 218.1 | 1 | 1 | Syndactyly, type III, | 186100 |
GJA5 | 284.2 | 1 | 1 | Atrial fibrillation, familial, 11 | 614049 |
GJA5 | 284.2 | 1 | 1 | Atrial standstill, digenic (GJA5/SCN5A), | 108770 |
GJC1 | 212.3 | 1 | 1 | No OMIM phenotype | 108770 |
GLA | 87.1 | 0.99 | 0.97 | Fabry disease, | 301500 |
GLA | 87.1 | 0.99 | 0.97 | Fabry disease, cardiac variant, | 301500 |
GPD1L | 173.4 | 1 | 0.99 | Brugada syndrome 2 | 611777 |
GTPBP3 | 135.8 | 0.99 | 0.98 | Combined oxidative phosphorylation deficiency 23 | 616198 |
GTPBP3 | 135.8 | 0.99 | 0.98 | H19 NC NC NC Beckwith-Wiedemann syndrome, | 130650 |
GTPBP3 | 135.8 | 0.99 | 0.98 | Silver-Russell syndrome, | 180860 |
GTPBP3 | 135.8 | 0.99 | 0.98 | Wilms tumor 2 | 194071 |
HAND1 | 102.9 | 0.99 | 0.98 | No OMIM phenotype | 194071 |
HAND1 | 102.9 | 0.99 | 0.98 | Ventricular septal defect (Cheng -2011 Clin Chim Acta) | 194071 |
HAND1 | 102.9 | 0.99 | 0.98 | Cardiac malformations (Reamon-Buettner -2009 Hum Mol Genet 18,3567) | 194071 |
HAND1 | 102.9 | 0.99 | 0.98 | Cardiomyopathy, dilated (Zhou -2015 Clin Chem Lab Med Epub, epub) | 194071 |
HAND2 | 58.2 | 0.97 | 0.89 | No OMIM phenotype | 194071 |
HAND2 | 58.2 | 0.97 | 0.89 | Tetralogy of Fallot (Topf -2014 PLoS One 9,e95453) | 194071 |
HAND2 | 58.2 | 0.97 | 0.89 | Ventricular septal defect (Sun -2016 G3 (Bethesda) epub,epub) | 194071 |
HAND2 | 58.2 | 0.97 | 0.89 | ?Congenital heart disease (Shen -2010 Chin Med J (Engl) 123,1623) | 194071 |
HCN1 | 142.6 | 0.99 | 0.98 | Epileptic encephalopathy, early infantile, 24 | 615871 |
HCN4 | 99.3 | 0.98 | 0.94 | Brugada syndrome 8 | 613123 |
HCN4 | 99.3 | 0.98 | 0.94 | Sick sinus syndrome 2 | 163800 |
HECTD1 | 197.1 | 0.99 | 0.96 | No OMIM phenotype | 163800 |
HEY2 | 147.6 | 0.98 | 0.93 | No OMIM phenotype | 163800 |
HEY2 | 147.6 | 0.98 | 0.93 | Congenital heart defects and cognitive impairment (Jordan -2015 Am J Med Genet A 167,2145) | 163800 |
HFE | 155 | 0.99 | 0.99 | Hemochromatosis, | 235200 |
HFE | 155 | 0.99 | 0.99 | [Transferrin serum level QTL2], | 614193 |
HFE | 155 | 0.99 | 0.99 | {Alzheimer disease, susceptibility to}, | 104300 |
HFE | 155 | 0.99 | 0.99 | {Microvascular complications of diabetes 7}, | 612635 |
HFE | 155 | 0.99 | 0.99 | {Porphyria cutanea tarda, susceptibility to}, | 176100 |
HFE | 155 | 0.99 | 0.99 | {Porphyria variegata, susceptibility to}, | 176200 |
HFE2 | 133.3 | 0.99 | 0.99 | Hemochromatosis type 2A, | 602390 |
HOOK1 | 89.1 | 0.94 | 0.87 | No OMIM phenotype | 602390 |
HRAS | 195.3 | 0.99 | 0.99 | Congenital myopathy with excess of muscle spindles, | 218040 |
HRAS | 195.3 | 0.99 | 0.99 | Costello syndrome, | 218040 |
HRAS | 195.3 | 0.99 | 0.99 | Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, | 163200 |
HRAS | 195.3 | 0.99 | 0.99 | {Bladder cancer, somatic}, | 109800 |
HRAS | 195.3 | 0.99 | 0.99 | {Nevus sebaceous or woolly hair nevus, somatic}, | 162900 |
HRAS | 195.3 | 0.99 | 0.99 | {Spitz nevus or nevus spilus, somatic}, | 137550 |
HRAS | 195.3 | 0.99 | 0.99 | {Thyroid carcinoma, follicular, somatic}, | 188470 |
IDUA | 116.9 | 0.91 | 0.85 | Mucopolysaccharidosis Ih, | 607014 |
IDUA | 116.9 | 0.91 | 0.85 | Mucopolysaccharidosis Ih/s, | 607015 |
IDUA | 116.9 | 0.91 | 0.85 | Mucopolysaccharidosis Is, | 607016 |
IFNG | 135.9 | 1 | 0.99 | {AIDS, rapid progression to}, | 609423 |
IFNG | 135.9 | 1 | 0.99 | {Aplastic anemia}, | 609135 |
IFNG | 135.9 | 1 | 0.99 | {Hepatitis C virus, response to therapy of}, | 609532 |
IFNG | 135.9 | 1 | 0.99 | {TSC2 angiomyolipomas, renal, modifier of}, | 613254 |
IFNG | 135.9 | 1 | 0.99 | {Tuberculosis, protection against}, | 607948 |
IFT140 | 124.5 | 0.99 | 0.98 | Short-rib thoracic dysplasia 9 with or without polydactyly, | 266920 |
IFT74 | 96 | 0.94 | 0.85 | No OMIM phenotype | 266920 |
IL10 | 154.7 | 1 | 0.99 | {Graft-versus-host disease, protection against}, | 614395 |
IL10 | 154.7 | 1 | 0.99 | {HIV-1, susceptibility to}, | 609423 |
IL10 | 154.7 | 1 | 0.99 | {Rheumatoid arthritis, progression of}, | 180300 |
ILK | 165 | 1 | 1 | No OMIM phenotype | 180300 |
ILK | 165 | 1 | 1 | Cardiomyopathy, dilated (Knoll -2007 Circulation 116,515) | 180300 |
ILK | 165 | 1 | 1 | ?Congenital anomalies of the kidney and urinary tract (Nicolaou -2015 Kidney Int 89 476) | 180300 |
IRX4 | 96.5 | 0.97 | 0.93 | No OMIM phenotype | 180300 |
IRX4 | 96.5 | 0.97 | 0.93 | Congenital heart defect (Cheng -2014 BMC Genomics 15,1127) | 180300 |
IRX4 | 96.5 | 0.97 | 0.93 | {Prostate cancer,susceptibility to} (Nguyen -2012 Hum Mol Genet 21,2076) | 180300 |
JAG1 | 167 | 0.99 | 0.98 | Alagille syndrome, | 118450 |
JAG1 | 167 | 0.99 | 0.98 | Tetralogy of Fallot, | 187500 |
JAG1 | 167 | 0.99 | 0.98 | ?Deafness, congenital heart defects, and posterior embryotoxon | 187500 |
JPH2 | 103.3 | 0.96 | 0.88 | Cardiomyopathy, hypertrophic, 17 | 613873 |
JUP | 159 | 0.99 | 0.98 | Arrhythmogenic right ventricular dysplasia 12 | 611528 |
JUP | 159 | 0.99 | 0.98 | Naxos disease, | 601214 |
KCNA5 | 155.4 | 0.99 | 0.98 | Atrial fibrillation, familial, 7 | 612240 |
KCND2 | 205.9 | 1 | 1 | No OMIM phenotype | 612240 |
KCND2 | 205.9 | 1 | 1 | Autism and epilepsy (Lee -2014 Hum Mol Genet 23,3481) | 612240 |
KCND2 | 205.9 | 1 | 1 | J-wave syndrome with sudden cardiac death (Perrin -2014 Circ Cardiovasc Genet 7,782) | 612240 |
KCND2 | 205.9 | 1 | 1 | Epilepsy,temporal lobe (Singh -2006 Neurobiol Dis 24,245) | 612240 |
KCND3 | 207.2 | 1 | 0.98 | Brugada syndrome 9 | 616399 |
KCND3 | 207.2 | 1 | 0.98 | Spinocerebellar ataxia 19 | 607346 |
KCNE1 | 489.6 | 1 | 1 | Jervell and Lange-Nielsen syndrome 2 | 612347 |
KCNE1 | 489.6 | 1 | 1 | Long QT syndrome 5 | 613695 |
KCNE1L | 99.6 | 0.98 | 0.93 | No OMIM phenotype | 613695 |
KCNE1L | 99.6 | 0.98 | 0.93 | Atrial fibrillation (Ravn -2008 Heart Rhythm 5,427 | 613695 |
KCNE1L | 99.6 | 0.98 | 0.93 | Idiopathic ventricular fibrillation (Ohno -2011 Circ Arrhythm Electrophysiol 4,352) | 613695 |
KCNE1L | 99.6 | 0.98 | 0.93 | Atrial fibrillation,lone,early-onset (Olesen -2014 Heart Rhythm 11,246) | 613695 |
KCNE2 | 171.3 | 1 | 0.99 | Atrial fibrillation, familial, 4 | 611493 |
KCNE2 | 171.3 | 1 | 0.99 | Long QT syndrome 6 | 613693 |
KCNE3 | 185.8 | 1 | 1 | Brugada syndrome 6 | 613119 |
KCNE4 | 102 | 0.79 | 0.77 | No OMIM phenotype | 613119 |
KCNE4 | 102 | 0.79 | 0.77 | ?Periodic paralysis (Silva -2004 Arq Bras Endocrinol Metabol 48,196) | 613119 |
KCNE4 | 102 | 0.79 | 0.77 | {Atrial fibrillation, association with} (Zeng -2007 Cardiology 108,97) | 613119 |
KCNH2 | 111.3 | 0.94 | 0.88 | Long QT syndrome 2 | 613688 |
KCNH2 | 111.3 | 0.94 | 0.88 | Short QT syndrome 1 | 609620 |
KCNH2 | 111.3 | 0.94 | 0.88 | {Long QT syndrome 2 acquired, susceptibility to}, | 613688 |
KCNJ11 | 302.7 | 1 | 1 | Diabetes mellitus, permanent neonatal, with neurologic features, | 606176 |
KCNJ11 | 302.7 | 1 | 1 | Diabetes mellitus, transient neonatal, 3 | 610582 |
KCNJ11 | 302.7 | 1 | 1 | Diabetes, permanent neonatal, | 606176 |
KCNJ11 | 302.7 | 1 | 1 | Hyperinsulinemic hypoglycemia, familial, 2 | 601820 |
KCNJ11 | 302.7 | 1 | 1 | Maturity-onset diabetes of the young, type 13 | 616329 |
KCNJ11 | 302.7 | 1 | 1 | {Diabetes mellitus, type 2 susceptibility to}, | 125853 |
KCNJ12 | 592.6 | 1 | 0.99 | No OMIM phenotype | 125853 |
KCNJ2 | 227.7 | 1 | 1 | Andersen syndrome, | 170390 |
KCNJ2 | 227.7 | 1 | 1 | Atrial fibrillation, familial, 9 | 613980 |
KCNJ2 | 227.7 | 1 | 1 | Short QT syndrome 3 | 609622 |
KCNJ3 | 184.6 | 1 | 1 | No OMIM phenotype | 609622 |
KCNJ3 | 184.6 | 1 | 1 | {Schizophrenia, association with} (Yamada -2012 Hum Genet 131,443) | 609622 |
KCNJ5 | 217.3 | 1 | 0.99 | Hyperaldosteronism, familial, type III, | 613677 |
KCNJ5 | 217.3 | 1 | 0.99 | Long QT syndrome 13 | 613485 |
KCNJ8 | 193.2 | 1 | 1 | No OMIM phenotype | 613485 |
KCNJ8 | 193.2 | 1 | 1 | Cantu syndrome (Brownstein -2013 Eur J Med Genet 56,678) | 613485 |
KCNJ8 | 193.2 | 1 | 1 | Sudden infant death syndrome (Klaver -2011 Int J Cardiol 152,162) | 613485 |
KCNJ8 | 193.2 | 1 | 1 | ?Ventricular fibrillation (Haissaguerre -2009 J Cardiovasc Electrophysiol 20,93) | 613485 |
KCNMB1 | 125.9 | 1 | 1 | {Hypertension, diastolic, resistance to}, | 608622 |
KCNQ1 | 124.8 | 0.92 | 0.89 | Atrial fibrillation, familial, 3 | 607554 |
KCNQ1 | 124.8 | 0.92 | 0.89 | Jervell and Lange-Nielsen syndrome, | 220400 |
KCNQ1 | 124.8 | 0.92 | 0.89 | Long QT syndrome 1 | 192500 |
KCNQ1 | 124.8 | 0.92 | 0.89 | Short QT syndrome 2 | 609621 |
KCNQ1 | 124.8 | 0.92 | 0.89 | {Long QT syndrome 1 acquired, susceptibility to}, | 192500 |
KCNQ1 | 124.8 | 0.92 | 0.89 | KCNQ1OT1 NC NC NC Beckwith-Wiedemann syndrome, | 130650 |
KCNQ2 | 103.9 | 0.98 | 0.96 | Epileptic encephalopathy, early infantile, 7 | 613720 |
KCNQ2 | 103.9 | 0.98 | 0.96 | Myokymia, | 121200 |
KCNQ2 | 103.9 | 0.98 | 0.96 | Seizures, benign neonatal, 1 | 121200 |
KIF7 | 93.4 | 0.95 | 0.88 | Acrocallosal syndrome, | 200990 |
KIF7 | 93.4 | 0.95 | 0.88 | Joubert syndrome 12 | 200990 |
KIF7 | 93.4 | 0.95 | 0.88 | ?Al-Gazali-Bakalinova syndrome, | 607131 |
KIF7 | 93.4 | 0.95 | 0.88 | ?Hydrolethalus syndrome 2 | 614120 |
KMT2D | 162.1 | 0.99 | 0.99 | Kabuki syndrome 1 | 147920 |
KRAS | 72.1 | 0.99 | 0.96 | Bladder cancer, somatic, | 109800 |
KRAS | 72.1 | 0.99 | 0.96 | Breast cancer, somatic, | 114480 |
KRAS | 72.1 | 0.99 | 0.96 | Cardiofaciocutaneous syndrome 2 | 615278 |
KRAS | 72.1 | 0.99 | 0.96 | Gastric cancer, somatic, | 137215 |
KRAS | 72.1 | 0.99 | 0.96 | Leukemia, acute myeloid, | 601626 |
KRAS | 72.1 | 0.99 | 0.96 | Lung cancer, somatic, | 211980 |
KRAS | 72.1 | 0.99 | 0.96 | Noonan syndrome 3 | 609942 |
KRAS | 72.1 | 0.99 | 0.96 | Pancreatic carcinoma, somatic, | 260350 |
KRAS | 72.1 | 0.99 | 0.96 | RAS-associated autoimmune leukoproliferative disorder, | 614470 |
KRAS | 72.1 | 0.99 | 0.96 | Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, | 163200 |
LAMA4 | 151.1 | 1 | 0.99 | Cardiomyopathy, dilated, 1JJ, | 615235 |
LAMP2 | 134.3 | 0.92 | 0.91 | Danon disease, | 300257 |
LDB3 | 134.4 | 0.95 | 0.92 | Cardiomyopathy, dilated, 1C, with or without LVNC, | 601493 |
LDB3 | 134.4 | 0.95 | 0.92 | Cardiomyopathy, hypertrophic, 24 | 601493 |
LDB3 | 134.4 | 0.95 | 0.92 | Left ventricular noncompaction 3 | 601493 |
LDB3 | 134.4 | 0.95 | 0.92 | Myopathy, myofibrillar, 4 | 609452 |
LEFTY2 | 43.3 | 0.91 | 0.74 | Left-right axis malformations (Koasaki -1999 Am J Hum Genet 64 712) | 609452 |
LIMS1 | 54 | 0.4 | 0.32 | No OMIM phenotype | 609452 |
LMNA | 90.4 | 0.96 | 0.89 | Cardiomyopathy, dilated, 1A, | 115200 |
LMNA | 90.4 | 0.96 | 0.89 | Charcot-Marie-Tooth disease, type 2B1, | 605588 |
LMNA | 90.4 | 0.96 | 0.89 | Emery-Dreifuss muscular dystrophy 2 AD, | 181350 |
LMNA | 90.4 | 0.96 | 0.89 | Emery-Dreifuss muscular dystrophy 3 AR, | 616516 |
LMNA | 90.4 | 0.96 | 0.89 | Heart-hand syndrome, Slovenian type, | 610140 |
LMNA | 90.4 | 0.96 | 0.89 | Hutchinson-Gilford progeria, | 176670 |
LMNA | 90.4 | 0.96 | 0.89 | Lipodystrophy, familial partial, 2 | 151660 |
LMNA | 90.4 | 0.96 | 0.89 | Malouf syndrome, | 212112 |
LMNA | 90.4 | 0.96 | 0.89 | Mandibuloacral dysplasia, | 248370 |
LMNA | 90.4 | 0.96 | 0.89 | Muscular dystrophy, congenital, | 613205 |
LMNA | 90.4 | 0.96 | 0.89 | Muscular dystrophy, limb-girdle, type 1B, | 159001 |
LMNA | 90.4 | 0.96 | 0.89 | Restrictive dermopathy, lethal, | 275210 |
LOX | 148.7 | 0.99 | 0.97 | No OMIM phenotype | 275210 |
LOX | 148.7 | 0.99 | 0.97 | {Breast cancer,increased risk,in African American women,association with} (Min -2009 Cancer Res | 275210 |
LOX | 148.7 | 0.99 | 0.97 | 69,6685) | 275210 |
LOX | 148.7 | 0.99 | 0.97 | {Osteosarcoma, association with} (Liu -2012 PLoS One 7,e41610) | 275210 |
LRP1 | 215.7 | 0.99 | 0.99 | No OMIM phenotype | 275210 |
LRP1 | 215.7 | 0.99 | 0.99 | Keratosis pilaris atrophicans (Klar -2015 J Med Genet 52,599) | 275210 |
LRP1 | 215.7 | 0.99 | 0.99 | {Abdominal aortic aneurysm, increased risk} (Bown -2011 Am J Hum Genet 89,619) | 275210 |
LRP1 | 215.7 | 0.99 | 0.99 | ?Multiple autoimmune syndrome (Johar -2015 J Transl Med 13,173) | 275210 |
LRP1 | 215.7 | 0.99 | 0.99 | ?Aortic aneurysm (Li -2014 Diagn Pathol 9 25) | 275210 |
LRP1 | 215.7 | 0.99 | 0.99 | ?Deafness (Miyagawa -2013 PLoS One 8 e71381) | 275210 |
LRP1 | 215.7 | 0.99 | 0.99 | ?Schizophrenia (Girard -2015 PLoS One 10 e | 0128988) |
LRP1 | 215.7 | 0.99 | 0.99 | ?Autism (Sanders -2012 Nature 485 237) | 0128988) |
LRP2 | 199.9 | 1 | 0.99 | Donnai-Barrow syndrome, | 222448 |
LRP6 | 186.6 | 1 | 0.99 | Tooth agenesis, selective, 7 | 616724 |
LRP6 | 186.6 | 1 | 0.99 | {Coronary artery disease, autosomal dominant, 2}, | 610947 |
LRRC10 | 190.3 | 1 | 1 | No OMIM phenotype | 610947 |
LRRC10 | 190.3 | 1 | 1 | Cardiomyopathy,dilated (Qu -2015 Mol Med Rep 12,3718) | 610947 |
LTBP1 | 156.7 | 0.95 | 0.93 | No OMIM phenotype | 610947 |
LTBP1 | 156.7 | 0.95 | 0.93 | ?Autism (Sanders -2012 Nature 485,237) | 610947 |
MAP2K1 | 107.3 | 0.99 | 0.95 | Cardiofaciocutaneous syndrome 3 | 615279 |
MAP2K2 | 118.5 | 0.97 | 0.92 | Cardiofaciocutaneous syndrome 4 | 615280 |
MCTP2 | 143.3 | 0.99 | 0.97 | No OMIM phenotype | 615280 |
MCTP2 | 143.3 | 0.99 | 0.97 | Coarctation of the aorta (Lalani -2013 Hum Mol Genet 22,4339) | 615280 |
MCTP2 | 143.3 | 0.99 | 0.97 | ?Bicuspid aortic valve (Bonachea -2014 BMC Med Genomics 7,56) | 615280 |
MED13L | 151.7 | 1 | 0.99 | Mental retardation and distinctive facial features with or without cardiac defects, | 616789 |
MED13L | 151.7 | 1 | 0.99 | Transposition of the great arteries, dextro-looped 1 | 608808 |
MEF2C | 142.4 | 0.98 | 0.93 | Chromosome 5q14,3 deletion syndrome, | 613443 |
MEF2C | 142.4 | 0.98 | 0.93 | Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, | 613443 |
MEGF8 | 134 | 0.99 | 0.98 | Carpenter syndrome 2 | 614976 |
MIB1 | 170.5 | 1 | 0.99 | Left ventricular noncompaction 7 | 615092 |
MICA | 27.6 | 0.68 | 0.52 | No OMIM phenotype | 615092 |
MICA | 27.6 | 0.68 | 0.52 | Lung cancer (Huang -2011 Tissue antigens 78,297) | 615092 |
MICA | 27.6 | 0.68 | 0.52 | {Ankylosing spondylitis, early onset, association with} (Amroun -2005 Hum Immunol 66,1057) | 615092 |
MICA | 27.6 | 0.68 | 0.52 | {Rheumatoid arthritis, association with} (Kirsten -2009 Arthritis Res Ther 11,R60) | 615092 |
MICA | 27.6 | 0.68 | 0.52 | {Cervical cancer,increased risk} (Chen -2013 J Natl Cancer Inst 105,624) | 615092 |
MICA | 27.6 | 0.68 | 0.52 | {Oral squamous cell carcinoma, association with} (Tamaki -2007 J Oral Pathol Med 36,351) | 615092 |
MICA | 27.6 | 0.68 | 0.52 | {Behcet disease,association with} (Mizuki -1997 Proc Natl Acad Sci USA 94,1298) | 615092 |
MICB | 16.2 | 0.5 | 0.3 | No OMIM phenotype | 615092 |
MICB | 16.2 | 0.5 | 0.3 | {autism, association with} (Lim -2013 Neuron 77,235) | 615092 |
MMP21 | 116 | 0.92 | 0.87 | Heterotaxy, visceral, 7 autosomal, | 616749 |
MRPL3 | 69.9 | 0.89 | 0.78 | Combined oxidative phosphorylation deficiency 9 | 614582 |
MTO1 | 179.8 | 0.89 | 0.87 | Combined oxidative phosphorylation deficiency 10 | 614702 |
MYBPC3 | 155.7 | 0.99 | 0.96 | Cardiomyopathy, dilated, 1MM, | 615396 |
MYBPC3 | 155.7 | 0.99 | 0.96 | Cardiomyopathy, hypertrophic, 4 | 115197 |
MYBPC3 | 155.7 | 0.99 | 0.96 | Left ventricular noncompaction 10 | 615396 |
MYH10 | 160.7 | 0.99 | 0.99 | No OMIM phenotype | 615396 |
MYH10 | 160.7 | 0.99 | 0.99 | Intrauterine growth restriction,microcephaly,developmental delay and hip dysplasia (Tuzovic -2013 | 615396 |
MYH10 | 160.7 | 0.99 | 0.99 | Rare Dis 1,e26144) | 615396 |
MYH10 | 160.7 | 0.99 | 0.99 | ?Intellectual disability (Hamdan -2014 PLoS Genet 10,e | 1004772) |
MYH10 | 160.7 | 0.99 | 0.99 | ?Autism spectrum disorder (Li -2016 Mol Psychiatry 21 290) | 1004772) |
MYH11 | 148.2 | 1 | 0.99 | Aortic aneurysm, familial thoracic 4 | 132900 |
MYH6 | 131.6 | 0.99 | 0.96 | Atrial septal defect 3 | 614089 |
MYH6 | 131.6 | 0.99 | 0.96 | Cardiomyopathy, dilated, 1EE, | 613252 |
MYH6 | 131.6 | 0.99 | 0.96 | Cardiomyopathy, hypertrophic, 14 | 613251 |
MYH6 | 131.6 | 0.99 | 0.96 | {Sick sinus syndrome 3}, | 614090 |
MYH7 | 128.2 | 0.99 | 0.96 | Cardiomyopathy, dilated, 1S, | 613426 |
MYH7 | 128.2 | 0.99 | 0.96 | Cardiomyopathy, hypertrophic, 1 | 192600 |
MYH7 | 128.2 | 0.99 | 0.96 | Left ventricular noncompaction 5 | 613426 |
MYH7 | 128.2 | 0.99 | 0.96 | Liang distal myopathy, | 160500 |
MYH7 | 128.2 | 0.99 | 0.96 | Myopathy, myosin storage, autosomal dominant, | 608358 |
MYH7 | 128.2 | 0.99 | 0.96 | Myopathy, myosin storage, autosomal recessive, | 255160 |
MYH7 | 128.2 | 0.99 | 0.96 | Scapuloperoneal syndrome, myopathic type, | 181430 |
MYH7B | 127 | 0.98 | 0.95 | No OMIM phenotype | 181430 |
MYH7B | 127 | 0.98 | 0.95 | ?Cardiomyopathy,left ventricular noncompaction (Esposito -2013 Orphanet J Rare Dis 8) | 181430 |
MYH7B | 127 | 0.98 | 0.95 | ?Hearing loss (Haraksingh -2014 BMC Genomics 15,1155) | 181430 |
MYL2 | 148.8 | 0.98 | 0.93 | Cardiomyopathy, hypertrophic, 10 | 608758 |
MYL3 | 123.9 | 1 | 1 | Cardiomyopathy, hypertrophic, 8 | 608751 |
MYL7 | 175.2 | 1 | 1 | No OMIM phenotype | 608751 |
MYLK | 170.1 | 0.99 | 0.99 | Aortic aneurysm, familial thoracic 7 | 613780 |
MYLK2 | 127.3 | 1 | 0.99 | Cardiomyopathy, hypertrophic, 1 digenic, | 192600 |
MYO1C | 117.2 | 0.99 | 0.98 | No OMIM phenotype | 192600 |
MYO1C | 117.2 | 0.99 | 0.98 | ?Sensorineural hearing loss,bilateral (Zadro -2009 Biochim Biophys Acta 1792,27) | 192600 |
MYOM2 | 171.1 | 1 | 0.99 | No OMIM phenotype | 192600 |
MYOM2 | 171.1 | 1 | 0.99 | ?Tetralogy of Fallot (Grunert -2014 Hum Mol Genet 23,3115) | 192600 |
MYOT | 159.8 | 0.99 | 0.97 | Muscular dystrophy, limb-girdle, type 1A, | 159000 |
MYOT | 159.8 | 0.99 | 0.97 | Myopathy, myofibrillar, 3 | 609200 |
MYOT | 159.8 | 0.99 | 0.97 | Myopathy, spheroid body, | 182920 |
MYOZ1 | 92.7 | 1 | 0.99 | No OMIM phenotype | 182920 |
MYOZ2 | 169.6 | 1 | 0.99 | Cardiomyopathy, hypertrophic, 16 | 613838 |
MYPN | 165.7 | 0.99 | 0.98 | Cardiomyopathy, dilated, 1KK, | 615248 |
MYPN | 165.7 | 0.99 | 0.98 | Cardiomyopathy, familial restrictive, 4 | 615248 |
MYPN | 165.7 | 0.99 | 0.98 | Cardiomyopathy, hypertrophic, 22 | 615248 |
MYZAP | 153.5 | 0.96 | 0.92 | No OMIM phenotype | 615248 |
NAT8 | 182.3 | 1 | 1 | No OMIM phenotype | 615248 |
NAT8 | 182.3 | 1 | 1 | ?Microalbuminuria and dysplastic kidney (Carmichael -2013 Clin Genet 84,213) | 615248 |
NAT8 | 182.3 | 1 | 1 | ?Altered N-acetylornithine metabolism (Yu -2014 PLoS Genet 10,e | 1004212 |
NDST1 | 220.2 | 1 | 1 | Mental retardation, autosomal recessive 46 | 616116 |
NEBL | 124.1 | 0.97 | 0.93 | No OMIM phenotype | 616116 |
NEBL | 124.1 | 0.97 | 0.93 | Cardiomyopathy,dilated (Purejav -2010 J Am Coll Cardiol 56,1493) | 616116 |
NEK8 | 187.6 | 1 | 0.99 | ?Nephronophthisis 9 | 613824 |
NEK8 | 187.6 | 1 | 0.99 | ?Renal-hepatic-pancreatic dysplasia 2 | 615415 |
NEXN | 79.4 | 0.9 | 0.8 | Cardiomyopathy, dilated, 1CC, | 613122 |
NEXN | 79.4 | 0.9 | 0.8 | Cardiomyopathy, hypertrophic, 20 | 613876 |
NFATC1 | 125.5 | 0.99 | 0.97 | No OMIM phenotype | 613876 |
NFATC1 | 125.5 | 0.99 | 0.97 | Tricuspid atresia (Abdul-Sater(2012) PLoS One 7,e49532) | 613876 |
NFATC1 | 125.5 | 0.99 | 0.97 | Congenital heart disease (Glessner -2014 Circ Res 115,884) | 613876 |
NFATC1 | 125.5 | 0.99 | 0.97 | ?Biscuspid aortic valve (Bonachea -2014 BMC Med Genomics 7,56) | 613876 |
NFATC1 | 125.5 | 0.99 | 0.97 | ?Tetralogy of Fallot (Silversides -2012 PLoS Genet 8 e | 1002843) |
NFATC1 | 125.5 | 0.99 | 0.97 | ?Ventricular septal defect (Zhao -2013 Am J Med Genet A 161,3087) | 1002843) |
NFATC4 | 103.6 | 0.97 | 0.95 | No OMIM phenotype | 1002843) |
NFATC4 | 103.6 | 0.97 | 0.95 | {Cardiac hypertrophy,protection,association} (Poirier -2003 Eur J Hum Genet 11,659 | 1002843) |
NFKBIL1 | 9.6 | 0.42 | 0.12 | {Rheumatoid arthritis, susceptibility to}, | 180300 |
NGF | 286.7 | 1 | 1 | Neuropathy, hereditary sensory and autonomic, type V, | 608654 |
NKX2-5 | 94.7 | 1 | 0.99 | Atrial septal defect 7 with or without AV conduction defects, | 108900 |
NKX2-5 | 94.7 | 1 | 0.99 | Conotruncal heart malformations, variable, | 217095 |
NKX2-5 | 94.7 | 1 | 0.99 | Hypoplastic left heart syndrome 2 | 614435 |
NKX2-5 | 94.7 | 1 | 0.99 | Hypothyroidism, congenital nongoitrous, 5 | 225250 |
NKX2-5 | 94.7 | 1 | 0.99 | Tetrology of Fallot, | 187500 |
NKX2-5 | 94.7 | 1 | 0.99 | Ventricular septal defect 3 | 614432 |
NKX2-6 | 121.6 | 0.99 | 0.98 | Conotruncal heart malformations, | 217095 |
NKX2-6 | 121.6 | 0.99 | 0.98 | Persistent truncus arteriosus, | 217095 |
NODAL | 156.6 | 1 | 1 | Heterotaxy, visceral, 5 | 270100 |
NOS1AP | 204.2 | 1 | 1 | No OMIM phenotype | 270100 |
NOS1AP | 204.2 | 1 | 1 | Long QT syndrome (Shigemizu -2015 PLoS One 10,e | 0130329) |
NOS1AP | 204.2 | 1 | 1 | ?Obsessive-compulsive disorder (Delorme -2010 BMC Med Genet 11,108) | 0130329) |
NOS1AP | 204.2 | 1 | 1 | {Cardiac repolarisation, association with} (Arking -2006 Nat Genet 38,644) | 0130329) |
NOS3 | 107.6 | 0.93 | 0.89 | {Alzheimer disease, late-onset, susceptibility to}, | 104300 |
NOS3 | 107.6 | 0.93 | 0.89 | {Coronary artery spasm 1 susceptibility to} | 104300 |
NOS3 | 107.6 | 0.93 | 0.89 | {Hypertension, pregnancy-induced}, | 189800 |
NOS3 | 107.6 | 0.93 | 0.89 | {Hypertension, susceptibility to}, | 145500 |
NOS3 | 107.6 | 0.93 | 0.89 | {Ischemic stroke, susceptibility to}, | 601367 |
NOS3 | 107.6 | 0.93 | 0.89 | {Placental abruption} | 601367 |
NOTCH1 | 150.2 | 0.99 | 0.98 | Adams-Oliver syndrome 5 | 616028 |
NOTCH1 | 150.2 | 0.99 | 0.98 | Aortic valve disease 1 | 109730 |
NOTCH2 | 194.6 | 1 | 0.99 | Alagille syndrome 2 | 610205 |
NOTCH2 | 194.6 | 1 | 0.99 | Hajdu-Cheney syndrome, | 102500 |
NPPA | 104.4 | 0.99 | 0.99 | Atrial fibrillation, familial, 6 | 612201 |
NPPA | 104.4 | 0.99 | 0.99 | Atrial standstill 2 | 615745 |
NPPB | 159.9 | 1 | 1 | No OMIM phenotype | 615745 |
NPPB | 159.9 | 1 | 1 | ?Hypertension (Zeng -2013 J Hum Hypertens 27,271) | 615745 |
NPPB | 159.9 | 1 | 1 | {Diabetes type 2,reduced risk,association with} (Meirhaeghe -2007 Hum Mol Genet 16,1343) | 615745 |
NR2F2 | 242.8 | 0.99 | 0.94 | Congenital heart defects, multiple types, 4 | 615779 |
NRAS | 205.7 | 1 | 1 | Colorectal cancer, somatic, | 114500 |
NRAS | 205.7 | 1 | 1 | Epidermal nevus, somatic, | 162900 |
NRAS | 205.7 | 1 | 1 | Melanocytic nevus syndrome, congenital, somatic, | 137550 |
NRAS | 205.7 | 1 | 1 | Neurocutaneous melanosis, somatic, | 249400 |
NRAS | 205.7 | 1 | 1 | Noonan syndrome 6 | 613224 |
NRAS | 205.7 | 1 | 1 | Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, | 163200 |
NRAS | 205.7 | 1 | 1 | Thyroid carcinoma, follicular, somatic, | 188470 |
NRAS | 205.7 | 1 | 1 | ?RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic, | 614470 |
NSD1 | 172.3 | 1 | 0.99 | Beckwith-Wiedemann syndrome, | 130650 |
NSD1 | 172.3 | 1 | 0.99 | Leukemia, acute myeloid, | 601626 |
NSD1 | 172.3 | 1 | 0.99 | Sotos syndrome 1 | 117550 |
OBSCN | 176.1 | 0.99 | 0.98 | No OMIM phenotype | 117550 |
OBSCN | 176.1 | 0.99 | 0.98 | Cardiomyopathy,dilated (Marston -2015 PLoS One 10,e | 138568) |
OBSCN | 176.1 | 0.99 | 0.98 | Glioblastoma (Balakrishnan -2007 Cancer Res 67,3545) | 138568) |
OBSCN | 176.1 | 0.99 | 0.98 | ?Breast cancer (Aloraifi -2015 FEBS J epub,epub) | 138568) |
OBSCN | 176.1 | 0.99 | 0.98 | ?Schizophrenia (Fromer -2014 Nature 506,179) | 138568) |
OBSCN | 176.1 | 0.99 | 0.98 | ?Cardiomyopathy,hypertrophic (Arimura -2007 Biochem Biophys Res Commun 362,281) | 138568) |
OBSCN | 176.1 | 0.99 | 0.98 | Glioblastoma (Balakrishnan -2007 Cancer Res 67,3545) | 138568) |
PAFAH1B1 | 116.2 | 0.89 | 0.82 | Lissencephaly 1 | 607432 |
PAFAH1B1 | 116.2 | 0.89 | 0.82 | Subcortical laminar heterotopia, | 607432 |
PCSK5 | 177.5 | 1 | 0.99 | No OMIM phenotype | 607432 |
PCSK5 | 177.5 | 1 | 0.99 | ?Low HDL cholesterol (Motazacker -2013 Arterioscler Thromb Vasc Biol 33,1521) | 607432 |
PCSK5 | 177.5 | 1 | 0.99 | ?VACTERL (Nakamura -2015 BMC Res Notes 8,228) | 607432 |
PDE2A | 121.3 | 0.99 | 0.99 | No OMIM phenotype | 607432 |
PDLIM3 | 173.9 | 1 | 1 | No OMIM phenotype | 607432 |
PDLIM3 | 173.9 | 1 | 1 | Cardiomyopathy,dilated (Arola -2007 Mol Genet Metab 90,435 | 607432 |
PDLIM3 | 173.9 | 1 | 1 | ?Cardiomyopathy, hypertrophic (Bagnall -2010 Int J Cardiol 145,601) | 607432 |
PITX2 | 155.7 | 0.99 | 0.97 | Axenfeld-Rieger syndrome, type 1 | 180500 |
PITX2 | 155.7 | 0.99 | 0.97 | Iridogoniodysgenesis, type 2 | 137600 |
PITX2 | 155.7 | 0.99 | 0.97 | Peters anomaly, | 604229 |
PITX2 | 155.7 | 0.99 | 0.97 | Ring dermoid of cornea, | 180550 |
PKD1 | 28.2 | 0.42 | 0.33 | Polycystic kidney disease, adult type I, | 173900 |
PKD1L1 | 133.7 | 0.99 | 0.99 | No OMIM phenotype | 173900 |
PKD1L1 | 133.7 | 0.99 | 0.99 | {Subarachnoid haemorrhage,association with} (Yamada -2006 Arterioscler Thromb Vasc Biol 26,1920) | 173900 |
PKP2 | 107.4 | 0.96 | 0.9 | Arrhythmogenic right ventricular dysplasia 9 | 609040 |
PKP4 | 137.4 | 0.97 | 0.93 | No OMIM phenotype | 609040 |
PLA2G7 | 137.2 | 0.99 | 0.97 | Platelet-activating factor acetylhydrolase deficiency, | 614278 |
PLA2G7 | 137.2 | 0.99 | 0.97 | {Asthma, susceptibility to}, | 600807 |
PLA2G7 | 137.2 | 0.99 | 0.97 | {Atopy, susceptibility to}, | 147050 |
PLEC | 114.2 | 0.99 | 0.98 | Epidermolysis bullosa simplex with muscular dystrophy, | 226670 |
PLEC | 114.2 | 0.99 | 0.98 | Epidermolysis bullosa simplex with pyloric atresia, | 612138 |
PLEC | 114.2 | 0.99 | 0.98 | Epidermolysis bullosa simplex, Ogna type, | 131950 |
PLEC | 114.2 | 0.99 | 0.98 | Muscular dystrophy, limb-girdle, type 2Q, | 613723 |
PLEC | 114.2 | 0.99 | 0.98 | ?Epidermolysis bullosa simplex with nail dystrophy, | 616487 |
PLN | 209.9 | 1 | 1 | Cardiomyopathy, dilated, 1P, | 609909 |
PLN | 209.9 | 1 | 1 | Cardiomyopathy, hypertrophic, 18 | 613874 |
PLXND1 | 135 | 0.96 | 0.93 | No OMIM phenotype | 613874 |
PLXND1 | 135 | 0.96 | 0.93 | Moebius syndrome (Tomas-Roca -2015 Nat Commun 6) | 613874 |
PLXND1 | 135 | 0.96 | 0.93 | Truncus arteriosus (Ta-Shma -2013 Am J Med Genet A 161,3115) | 613874 |
PLXND1 | 135 | 0.96 | 0.93 | {Diabetic nephropathy,association with} (McKnight -2009 Hugo J 3,77) | 613874 |
PNN | 156.8 | 0.99 | 0.96 | No OMIM phenotype | 613874 |
PPARGC1A | 166.3 | 0.99 | 0.98 | No OMIM phenotype | 613874 |
PPARGC1A | 166.3 | 0.99 | 0.98 | {Diabetes, type 2 association with}(Ek -2001 Diabetologia 44,2220) | 613874 |
PRDM1 | 180.1 | 1 | 0.99 | No OMIM phenotype | 613874 |
PRDM1 | 180.1 | 1 | 0.99 | {Chrohn's disease,increased risk,association with} (Ellinghaus -2013 Gastroenterology 145,339 | 613874 |
PRDM1 | 180.1 | 1 | 0.99 | {Ulcerative colitis,reduced risk,association with} (Ellinghaus -2013 Gastroenterology 145,339 | 613874 |
PRDM1 | 180.1 | 1 | 0.99 | ?Colorectal cancer (Zhang -2015 World J Gastroenterol 21,4136) | 613874 |
PRDM1 | 180.1 | 1 | 0.99 | ?Truncus arteriosus (Shaheen -2015 J Med Genet 52,322) | 613874 |
PRDM16 | 169.2 | 0.99 | 0.98 | Cardiomyopathy, dilated, 1LL, | 615373 |
PRDM16 | 169.2 | 0.99 | 0.98 | Left ventricular noncompaction 8 | 615373 |
PRICKLE1 | 137.2 | 1 | 1 | Epilepsy, progressive myoclonic 1B, | 612437 |
PRKAG2 | 147 | 0.97 | 0.93 | Cardiomyopathy, hypertrophic 6 | 600858 |
PRKAG2 | 147 | 0.97 | 0.93 | Glycogen storage disease of heart, lethal congenital, | 261740 |
PRKAG2 | 147 | 0.97 | 0.93 | Wolff-Parkinson-White syndrome, | 194200 |
PRKG1 | 135.4 | 0.98 | 0.94 | Aortic aneurysm, familial thoracic 8 | 615436 |
PSKH1 | 252.9 | 1 | 1 | No OMIM phenotype | 615436 |
PTK7 | 168.6 | 1 | 0.99 | No OMIM phenotype | 615436 |
PTK7 | 168.6 | 1 | 0.99 | ?Autism (Sanders -2012 Nature 485,237) | 615436 |
PTK7 | 168.6 | 1 | 0.99 | ?Neural tube defects (Wang -2015 Birth Defects Res A Clin Mol Teratol epub) | 615436 |
PTPLA | 67.5 | 0.72 | 0.61 | No OMIM phenotype | 615436 |
PTPLA | 67.5 | 0.72 | 0.61 | ?Myopathy,congenital (Muhammad -2013 Hum Mol Genet 22,5229) | 615436 |
PTPN11 | 101.2 | 0.96 | 0.9 | LEOPARD syndrome 1 | 151100 |
PTPN11 | 101.2 | 0.96 | 0.9 | Leukemia, juvenile myelomonocytic, somatic, | 607785 |
PTPN11 | 101.2 | 0.96 | 0.9 | Metachondromatosis, | 156250 |
PTPN11 | 101.2 | 0.96 | 0.9 | Noonan syndrome 1 | 163950 |
PTPN22 | 148.4 | 0.97 | 0.9 | {Diabetes, type 1 susceptibility to}, | 222100 |
PTPN22 | 148.4 | 0.97 | 0.9 | {Rheumatoid arthritis, susceptibility to}, | 180300 |
PTPN22 | 148.4 | 0.97 | 0.9 | {Systemic lupus erythematosus susceptibility to}, | 152700 |
PTPRC | 115.8 | 0.93 | 0.86 | Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive, | 608971 |
PTPRC | 115.8 | 0.93 | 0.86 | {Hepatitic C virus, susceptibility to}, | 609532 |
PTPRM | 167.9 | 1 | 0.99 | No OMIM phenotype | 609532 |
RAF1 | 138 | 1 | 0.99 | Cardiomyopathy, dilated, 1NN, | 615916 |
RAF1 | 138 | 1 | 0.99 | LEOPARD syndrome 2 | 611554 |
RAF1 | 138 | 1 | 0.99 | Noonan syndrome 5 | 611553 |
RANGRF | 109.6 | 0.99 | 0.97 | No OMIM phenotype | 611553 |
RANGRF | 109.6 | 0.99 | 0.97 | Brugada syndrome (Selga -2015 PLoS One 10,e | 132888 |
RANGRF | 109.6 | 0.99 | 0.97 | Histiocytoid cardiomyopathy (Cataldo -2014 | 132888 |
RBM20 | 195 | 0.99 | 0.96 | Cardiomyopathy, dilated, 1DD, | 613172 |
RIT1 | 184.4 | 1 | 1 | Noonan syndrome 8 | 615355 |
ROBO1 | 189.9 | 0.99 | 0.99 | No OMIM phenotype | 615355 |
ROBO1 | 189.9 | 0.99 | 0.99 | Breast and colorectal cancer (Villacis -2015 Tumour Biol epub, epub) | 615355 |
ROBO1 | 189.9 | 0.99 | 0.99 | ?Developmental dyslexia (Hannula-Jouppi -2005 PLoS Genet 1,e50) | 615355 |
ROBO1 | 189.9 | 0.99 | 0.99 | ?Congenital anomalies of the kidney and urinary tract (Nicolaou -2015 Kidney Int 89 476) | 615355 |
ROBO2 | 158.8 | 0.98 | 0.97 | Vesicoureteral reflux 2 | 610878 |
RPSA | 89.8 | 1 | 0.99 | Asplenia, isolated congenital, | 271400 |
RYR2 | 154.1 | 0.99 | 0.98 | Arrhythmogenic right ventricular dysplasia 2 | 600996 |
RYR2 | 154.1 | 0.99 | 0.98 | Ventricular tachycardia, catecholaminergic polymorphic, 1 | 604772 |
SCN10A | 194.2 | 0.99 | 0.99 | Episodic pain syndrome, familial, 2 | 615551 |
SCN1B | 180.2 | 0.97 | 0.96 | Atrial fibrillation, familial, 13 | 615377 |
SCN1B | 180.2 | 0.97 | 0.96 | Brugada syndrome 5 | 612838 |
SCN1B | 180.2 | 0.97 | 0.96 | Cardiac conduction defect, nonspecific, | 612838 |
SCN1B | 180.2 | 0.97 | 0.96 | Epilepsy, generalized, with febrile seizures plus, type 1 | 604233 |
SCN2B | 218.3 | 1 | 1 | Atrial fibrillation, familial, 14 | 615378 |
SCN3B | 162.5 | 1 | 1 | Atrial fibrillation, familial, 16 | 613120 |
SCN3B | 162.5 | 1 | 1 | Brugada syndrome 7 | 613120 |
SCN4B | 79.7 | 0.99 | 0.97 | Atrial fibrillation, familial, 17 | 611819 |
SCN4B | 79.7 | 0.99 | 0.97 | Long QT syndrome-10, | 611819 |
SCN5A | 196 | 1 | 0.99 | Atrial fibrillation, familial, 10 | 614022 |
SCN5A | 196 | 1 | 0.99 | Brugada syndrome 1 | 601144 |
SCN5A | 196 | 1 | 0.99 | Cardiomyopathy, dilated, 1E, | 601154 |
SCN5A | 196 | 1 | 0.99 | Heart block, nonprogressive, | 113900 |
SCN5A | 196 | 1 | 0.99 | Heart block, progressive, type IA, | 113900 |
SCN5A | 196 | 1 | 0.99 | Long QT syndrome-3, | 603830 |
SCN5A | 196 | 1 | 0.99 | Sick sinus syndrome 1 | 608567 |
SCN5A | 196 | 1 | 0.99 | Ventricular fibrillation, familial, 1 | 603829 |
SCN5A | 196 | 1 | 0.99 | {Sudden infant death syndrome, susceptibility to}, | 272120 |
SCNN1B | 167.2 | 1 | 0.99 | Bronchiectasis with or without elevated sweat chloride 1 | 211400 |
SCNN1B | 167.2 | 1 | 0.99 | Liddle syndrome, | 177200 |
SCNN1B | 167.2 | 1 | 0.99 | Pseudohypoaldosteronism, type I, | 264350 |
SCNN1G | 156.2 | 0.99 | 0.97 | Bronchiectasis with or without elevated sweat chloride 3 | 613071 |
SCNN1G | 156.2 | 0.99 | 0.97 | Liddle syndrome, | 177200 |
SCNN1G | 156.2 | 0.99 | 0.97 | Pseudohypoaldosteronism, type I, | 264350 |
SCO2 | 113.3 | 1 | 0.99 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 | 604377 |
SCO2 | 113.3 | 1 | 0.99 | Myopia 6 | 608908 |
SEMA3D | 161.7 | 0.98 | 0.96 | No OMIM phenotype | 608908 |
SEMA3D | 161.7 | 0.98 | 0.96 | Congenital heart defects (Sanchez-Castro -2015 Hum Mutat 36,30) | 608908 |
SEMA3D | 161.7 | 0.98 | 0.96 | Hirschsprung disease (Jiang -2015 Am J Hum Genet 96,581) | 608908 |
SEMA3D | 161.7 | 0.98 | 0.96 | ?Total anomalous pulmonary venous connection (Degenhardt -2013 Nat Med 19,760) | 608908 |
SEMA3D | 161.7 | 0.98 | 0.96 | ?Tetralogy of Fallot (Siversides -2012 PLoS Genet 8,e | 1002843 ) |
SGCA | 158.9 | 0.99 | 0.99 | Muscular dystrophy, limb-girdle, type 2D, | 608099 |
SGCB | 180.5 | 0.97 | 0.96 | Muscular dystrophy, limb-girdle, type 2E, | 604286 |
SGCD | 104.4 | 1 | 0.98 | Cardiomyopathy, dilated, 1L, | 606685 |
SGCD | 104.4 | 1 | 0.98 | Muscular dystrophy, limb-girdle, type 2F, | 601287 |
SGCE | 95.4 | 0.94 | 0.89 | Dystonia-11, myoclonic, | 159900 |
SGCG | 142.9 | 1 | 1 | Muscular dystrophy, limb-girdle, type 2C, | 253700 |
SHOC2 | 148.9 | 0.99 | 0.98 | Noonan-like syndrome with loose anagen hair, | 607721 |
SHROOM3 | 138.4 | 0.99 | 0.97 | No OMIM phenotype | 607721 |
SHROOM3 | 138.4 | 0.99 | 0.97 | Heterotaxy (Tariq -2011 Genome Biol 12,R91) | 607721 |
SHROOM3 | 138.4 | 0.99 | 0.97 | ?Neural tube defects (Lemay -2015 J Med Genet 52,493) | 607721 |
SHROOM3 | 138.4 | 0.99 | 0.97 | {Leukaemia risk,association with} (Rudd -2006 Blood 108,638) | 607721 |
SKI | 90.1 | 0.98 | 0.95 | Shprintzen-Goldberg syndrome, | 182212 |
SLC22A5 | 164.5 | 1 | 1 | Carnitine deficiency, systemic primary, | 212140 |
SLC25A4 | 152.1 | 1 | 1 | Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type), | 615418 |
SLC25A4 | 152.1 | 1 | 1 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 | 615418 |
SLC25A4 | 152.1 | 1 | 1 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 | 609283 |
SLC2A10 | 171.2 | 1 | 0.99 | Arterial tortuosity syndrome, | 208050 |
SLC8A1 | 219.6 | 0.99 | 0.98 | No OMIM phenotype | 208050 |
SLC8A1 | 219.6 | 0.99 | 0.98 | {Colorectal cancer,increased risk,association with} (Peters -2012 Hum Genet 131,217) | 208050 |
SLC8A1 | 219.6 | 0.99 | 0.98 | ?Schizophrenia (Purcell -2014 Nature 506,185) | 208050 |
SLMAP | 141.8 | 0.93 | 0.85 | No OMIM phenotype | 208050 |
SLMAP | 141.8 | 0.93 | 0.85 | Brugada syndrome (Ishikawa -2012 Circ Arrhythm Electrophysiol epub) | 208050 |
SMAD2 | 170.5 | 0.99 | 0.98 | No OMIM phenotype | 208050 |
SMAD2 | 170.5 | 0.99 | 0.98 | Congenital heart disease (Zaidi -2013 Nature 498,220) | 208050 |
SMAD2 | 170.5 | 0.99 | 0.98 | Arterial aneurysms and dissections (Micha -2015 Hum Mutat 36,1145) | 208050 |
SMAD2 | 170.5 | 0.99 | 0.98 | Holoprosencephaly (Roessler -2008 Am J Hum Genet 83,18) | 208050 |
SMAD3 | 142.2 | 0.99 | 0.98 | Loeys-Dietz syndrome 3 | 613795 |
SMAD6 | 101.5 | 0.89 | 0.78 | Aortic valve disease 2 | 614823 |
SMARCA4 | 156.7 | 0.99 | 0.98 | Coffin-Siris syndrome 4 | 614609 |
SMARCA4 | 156.7 | 0.99 | 0.98 | {Rhabdoid tumor predisposition syndrome 2}, | 613325 |
SMYD1 | 141 | 0.99 | 0.99 | No OMIM phenotype | 613325 |
SNTA1 | 100.1 | 0.83 | 0.77 | Long QT syndrome 12 | 612955 |
SNTB1 | 135.1 | 0.99 | 0.99 | No OMIM phenotype | 612955 |
SNX17 | 172.7 | 0.99 | 0.99 | No OMIM phenotype | 612955 |
SOD2 | 233.9 | 1 | 1 | {Microvascular complications of diabetes 6}, | 612634 |
SOS1 | 106.9 | 0.96 | 0.9 | Noonan syndrome 4 | 610733 |
SOS1 | 106.9 | 0.96 | 0.9 | ?Fibromatosis, gingival, 1 | 135300 |
SUFU | 149.5 | 0.99 | 0.97 | Basal cell nevus syndrome, | 109400 |
SUFU | 149.5 | 0.99 | 0.97 | Medulloblastoma, desmoplastic, | 155255 |
SUFU | 149.5 | 0.99 | 0.97 | {Meningioma, familial, susceptibility to}, | 607174 |
SYNE1 | 156.8 | 0.99 | 0.99 | Emery-Dreifuss muscular dystrophy 4 autosomal dominant, | 612998 |
SYNE1 | 156.8 | 0.99 | 0.99 | Spinocerebellar ataxia, autosomal recessive 8 | 610743 |
SYNE2 | 136.8 | 0.98 | 0.95 | Emery-Dreifuss muscular dystrophy 5 autosomal dominant, | 612999 |
SYNPO2 | 195.1 | 0.99 | 0.99 | No OMIM phenotype | 612999 |
TAB1 | 157.9 | 0.99 | 0.99 | No OMIM phenotype | 612999 |
TAB2 | 228.8 | 0.99 | 0.96 | Congenital heart defects, nonsyndromic, 2 | 614980 |
TAZ | 126.3 | 1 | 0.98 | Barth syndrome, | 302060 |
TBC1D32 | 87.1 | 0.96 | 0.9 | No OMIM phenotype | 302060 |
TBC1D32 | 87.1 | 0.96 | 0.9 | Oro-facio-digital syndrome type IX (Adly -2014 Hum Mutat 35 36) | 302060 |
TBX1 | 86.7 | 0.77 | 0.66 | Conotruncal anomaly face syndrome, | 217095 |
TBX1 | 86.7 | 0.77 | 0.66 | DiGeorge syndrome, | 188400 |
TBX1 | 86.7 | 0.77 | 0.66 | Tetralogy of Fallot, | 187500 |
TBX1 | 86.7 | 0.77 | 0.66 | Velocardiofacial syndrome, | 192430 |
TBX20 | 137 | 0.99 | 0.99 | Atrial septal defect 4 | 611363 |
TBX3 | 97.9 | 0.99 | 0.96 | Ulnar-mammary syndrome, | 181450 |
TBX5 | 158.6 | 1 | 0.99 | Holt-Oram syndrome, | 142900 |
TCAP | 89.2 | 1 | 1 | Cardiomyopathy, hypertrophic, 25 | 607487 |
TCAP | 89.2 | 1 | 1 | Muscular dystrophy, limb-girdle, type 2G, | 601954 |
TDGF1 | 163.9 | 0.98 | 0.92 | Forebrain defects | 601954 |
TFAP2B | 139.8 | 0.98 | 0.95 | Char syndrome, | 169100 |
TFAP2B | 139.8 | 0.98 | 0.95 | Patent ductus arteriosus 2 | 617035 |
TGFB1 | 89.2 | 0.99 | 0.97 | Camurati-Engelmann disease, | 131300 |
TGFB1 | 89.2 | 0.99 | 0.97 | {Cystic fibrosis lung disease, modifier of}, | 219700 |
TGFB2 | 182.2 | 1 | 0.99 | Loeys-Dietz syndrome 4 | 614816 |
TGFB3 | 177.8 | 1 | 0.99 | Arrhythmogenic right ventricular dysplasia 1 | 107970 |
TGFB3 | 177.8 | 1 | 0.99 | Loeys-Dietz syndrome 5 | 615582 |
TGFBR1 | 213.8 | 0.95 | 0.93 | Loeys-Dietz syndrome 1 | 609192 |
TGFBR1 | 213.8 | 0.95 | 0.93 | {Multiple self-healing squamous epithelioma, susceptibility to}, | 132800 |
TGFBR2 | 215.3 | 1 | 1 | Colorectal cancer, hereditary nonpolyposis, type 6 | 614331 |
TGFBR2 | 215.3 | 1 | 1 | Esophageal cancer, somatic, | 133239 |
TGFBR2 | 215.3 | 1 | 1 | Loeys-Dietz syndrome 2 | 610168 |
TLL1 | 165 | 1 | 0.99 | Atrial septal defect 6 | 613087 |
TMEM43 | 136.5 | 1 | 0.99 | Arrhythmogenic right ventricular dysplasia 5 | 604400 |
TMEM43 | 136.5 | 1 | 0.99 | Emery-Dreifuss muscular dystrophy 7 AD, | 614302 |
TMEM67 | 78.9 | 0.92 | 0.83 | COACH syndrome, | 216360 |
TMEM67 | 78.9 | 0.92 | 0.83 | Joubert syndrome 6 | 610688 |
TMEM67 | 78.9 | 0.92 | 0.83 | Meckel syndrome 3 | 607361 |
TMEM67 | 78.9 | 0.92 | 0.83 | Nephronophthisis 11 | 613550 |
TMEM67 | 78.9 | 0.92 | 0.83 | {Bardet-Biedl syndrome 14 modifier of}, | 615991 |
TMOD1 | 130 | 1 | 0.99 | No OMIM phenotype | 615991 |
TMPO | 143.8 | 0.98 | 0.94 | ?Cardiomyopathy, dilated, 1T, | 613740 |
TNF | 18.5 | 0.8 | 0.35 | {Asthma, susceptibility to}, | 600807 |
TNF | 18.5 | 0.8 | 0.35 | {Dementia, vascular, susceptibility to} | 600807 |
TNF | 18.5 | 0.8 | 0.35 | {Malaria, cerebral, susceptibility to}, | 611162 |
TNF | 18.5 | 0.8 | 0.35 | {Migraine without aura, susceptibility to}, | 157300 |
TNF | 18.5 | 0.8 | 0.35 | {Septic shock, susceptibility to} | 157300 |
TNNC1 | 221.4 | 1 | 1 | Cardiomyopathy, dilated, 1Z, | 611879 |
TNNC1 | 221.4 | 1 | 1 | Cardiomyopathy, hypertrophic, 13 | 613243 |
TNNI3 | 111.4 | 0.99 | 0.91 | Cardiomyopathy, dilated, 1FF, | 613286 |
TNNI3 | 111.4 | 0.99 | 0.91 | Cardiomyopathy, familial restrictive, 1 | 115210 |
TNNI3 | 111.4 | 0.99 | 0.91 | Cardiomyopathy, hypertrophic, 7 | 613690 |
TNNI3 | 111.4 | 0.99 | 0.91 | ?Cardiomyopathy, dilated, 2A, | 611880 |
TNNI3K | 141.3 | 0.99 | 0.96 | ?Cardiac conduction disease with or without dilated cardiomyopathy, | 616117 |
TNNT2 | 115.5 | 1 | 1 | Cardiomyopathy, dilated, 1D, | 601494 |
TNNT2 | 115.5 | 1 | 1 | Cardiomyopathy, familial restrictive, 3 | 612422 |
TNNT2 | 115.5 | 1 | 1 | Cardiomyopathy, hypertrophic, 2 | 115195 |
TNNT2 | 115.5 | 1 | 1 | Left ventricular noncompaction 6 | 601494 |
TPM1 | 165.5 | 0.99 | 0.98 | Cardiomyopathy, dilated, 1Y, | 611878 |
TPM1 | 165.5 | 0.99 | 0.98 | Cardiomyopathy, hypertrophic, 3 | 115196 |
TPM1 | 165.5 | 0.99 | 0.98 | Left ventricular noncompaction 9 | 611878 |
TRDN | 74.4 | 0.82 | 0.69 | Ventricular tachycardia, catecholaminergic polymorphic, 5 with or without muscle weakness, | 615441 |
TRIM63 | 152.1 | 1 | 0.99 | No OMIM phenotype | 615441 |
TRIM63 | 152.1 | 1 | 0.99 | Hypertrophic cardiomyopathy (Chen -2012 Circ Res 111,907) | 615441 |
TRPM4 | 120.8 | 0.99 | 0.98 | Progressive familial heart block, type IB, | 604559 |
TTN | 219 | 0.98 | 0.97 | Cardiomyopathy, dilated, 1G, | 604145 |
TTN | 219 | 0.98 | 0.97 | Cardiomyopathy, familial hypertrophic, 9 | 613765 |
TTN | 219 | 0.98 | 0.97 | Muscular dystrophy, limb-girdle, type 2J, | 608807 |
TTN | 219 | 0.98 | 0.97 | Myopathy, early-onset, with fatal cardiomyopathy, | 611705 |
TTN | 219 | 0.98 | 0.97 | Myopathy, proximal, with early respiratory muscle involvement, | 603689 |
TTN | 219 | 0.98 | 0.97 | Tibial muscular dystrophy, tardive, | 600334 |
TTR | 180.3 | 1 | 1 | Amyloidosis, hereditary, transthyretin-related, | 105210 |
TTR | 180.3 | 1 | 1 | Carpal tunnel syndrome, familial, | 115430 |
TTR | 180.3 | 1 | 1 | [Dystransthyretinemic hyperthyroxinemia], | 145680 |
VCL | 121.9 | 0.99 | 0.99 | Cardiomyopathy, dilated, 1W, | 611407 |
VCL | 121.9 | 0.99 | 0.99 | Cardiomyopathy, hypertrophic, 15 | 613255 |
XIRP2 | 147.3 | 1 | 0.99 | No OMIM phenotype | 613255 |
XIRP2 | 147.3 | 1 | 0.99 | ?Schizphrenia (Fromer -2014 Nature 506,179) | 613255 |
ZBTB14 | 230.6 | 1 | 0.99 | No OMIM phenotype | 613255 |
ZBTB17 | 152.2 | 1 | 1 | No OMIM phenotype | 613255 |
ZEB2 | 181.5 | 1 | 0.99 | Mowat-Wilson syndrome, | 235730 |
ZFPM2 | 221.7 | 0.99 | 0.99 | 46XY sex reversal 9 | 616067 |
ZFPM2 | 221.7 | 0.99 | 0.99 | Diaphragmatic hernia 3 | 610187 |
ZFPM2 | 221.7 | 0.99 | 0.99 | Tetralogy of Fallot, | 187500 |
ZIC3 | 121.5 | 1 | 0.99 | Congenital heart defects, nonsyndromic, 1 X-linked, | 306955 |
ZIC3 | 121.5 | 1 | 0.99 | Heterotaxy, visceral, 1 X-linked | 306955 |
ZIC3 | 121.5 | 1 | 0.99 | VACTERL association, X-linked, | 314390 |