qGenEx® CA. Panell Cardiología

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

Solicita el test

qGenEx® CA. Panell Cardiologia

Els panells qGenEx® consisteixen en anàlisis d’exoma dirigides, que permeten restringir l’estudi a un grup de gens concret segons l’especialitat o sospita clínica concreta, al mateix temps que generen dades de la totalitat de l’exoma, per si en primera instància no s’identifica el gen responsable, ja tinguem les dades apunt per a noves anàlisis presents o futures.

El qGenEx® CA, analitza 198 gens associats a patologies del cor fent servir seqüenciació d’exoma complet mitjançant NGS.

Fes servir el buscador per trobar el gen o grup de gens relacionats amb la patologia que t’interessa i que formen part del panell:

gene
ABCC6
ABCC9
ABCG5
ABCG8
ABL1
ACTA2
ACTC1
ACTN2
ACVR2B
ACVRL1
ADAMTS19
ADAMTS3
ADAMTSL4
APOA5
APOB
APOC2
APOE
APP
ARIH1
ATP13A3
ATP1A2
BAG3
BGN
BMPR2
BRAF
CACNA1A
CACNA1C
CALM1
CALM2
CALM3
CASQ2
CBL
CCBE1
CDH2
CELSR1
CFAP53
CFC1
CHD7
COL1A1
COL1A2
COL3A1
COL4A1
COL4A2
COL5A1
COL5A2
CREB3L3
CSRP3
CTNND1
CYP27A1
DES
DMD
DOLK
DSC2
DSG2
DSP
EFEMP2
EIF2AK4
ELN
EMD
ENG
EPG5
EPHB4
EYA4
FAT4
FBN1
FBN2
FHL1
FHOD3
FLCN
FLNA
FLNC
FLT4
FOXC1
FOXC2
GATA2
GATA4
GATA6
GDF1
GDF2
GJA1
GJC2
GLA
GLRA1
GPD1
GPIHBP1
HAMP
HFE
HJV
HRAS
HTRA1
HYAL2
IDH2
IKBKG
IPO8
JAG1
JPH2
JUP
KCNE1
KCNE2
KCNH2
KCNJ2
KCNK3
KCNQ1
KIF11
KRAS
LAMP2
LDB3
LDLR
LDLRAP1
LIPA
LMF1
LMNA
LOX
LPL
LZTR1
MAP2K1
MAP2K2
MMP21
MYBPC3
MYH11
MYH6
MYH7
MYL2
MYL3
MYLK
NEXN
NF1
NKX2-5
NODAL
NOTCH1
NOTCH2
NOTCH3
NR2F2
NRAS
NSD1
PCSK9
PHOX2B
PIEZO1
PKP2
PLN
PLOD1
PMM2
PPA2
PPP1CB
PPP1R13L
PRKAG2
PRKG1
PTPN11
PTPN14
RAF1
RASA1
RBM20
RIT1
RYR2
SCN5A
SGCD
SHANK3
SHOC2
SKI
SLC2A10
SLC40A1
SMAD2
SMAD3
SMAD4
SMAD9
SOS1
SOS2
SOX17
SOX18
SPEG
SPRED1
TAB2
TAZ
TBX4
TBX5
TCAP
TFR2
TGFB2
TGFB3
TGFBR1
TGFBR2
TMEM43
TNNC1
TNNI3
TNNI3K
TNNT2
TPM1
TRAF7
TRDN
TREX1
TSC1
TSC2
TSPYL1
TTN
TTR
VCL
VEGFC
ZIC3

Una anàlisi per a cada metge especialista i, al mateix temps, per a tots!

Descarrega el consentiment informat AQUÍ

El test pot demanar-se des de la Plataforma de Comandes, o bé descarregant el Full de Sol·licitud.

Accedeix a la plataforma de comandes Comanda sense plataforma

Com demano un test?

1) Emplenar la sol·licitud del test.

Necessitem la informació del metge sol·licitant, les dades del pacient (especialment l’identificador de la mostra, la data de naixement i el sexe), i per descomptat seleccionar el test que se sol·licita.

La resta de camps també són importants, així que si disposes de la informació, ens serà de gran utilitat.

2) Imprimir el full de sol·licitud.

Una vegada emplenat a l’ordinador, s’ha d’imprimir i signar per part del metge sol·licitant.

3) Obtenir la mostra biològica.

És important recordar que les mostres han d’anar identificades amb el mateix identificador o nom indicat al Full de Sol·licitud.

4) Preparar la mostra de manera adequada per al seu enviament.

Embalar la mostra biològica de manera adequada i adjuntar el Full de Sol·licitud.

No oblidi incloure una còpia del document de consentiment informat, signat pel pacient o els seus representants legals.

5) Enviar la mostra al laboratori o demanar-ne la recollida trucant al 932 301 270

L’adreça d’enviament és:

Quantitative Genomic Medicine Laboratories (qGenomics)
c/Joan XXIII, 10
08950 – Esplugues del Llobregat

Requisits de les mostres biològiques

DNA: >5ug, a una concentració mínima de 50ng/uL, i de bona qualitat (ratio 260/280 >1.8).

Sang en EDTA: 1 tub de 3-5mL (nens, mínim 1mL de sang).

Sang en paper: un mínim de 10 spots en targeta Guthrie o paper de filtre.

Alternativament es pot demanar a qGenomics un kit de recollida de saliva o de cèl·lules bucals.

Preparació per a l'enviament

Les mostres biològiques com la sang, la saliva o altres fluïds corporals són considerades mostres biològiques de categoria B, mentre que l’ADN es pot considerar un “Especimen humà exent”. Pots llegir aquí com han d’anar acondicionades.

La sang recollida en un tub d’EDTA, l’ADN, la saliva recollida en els contenidors especials que proporcionem, i la sang en paper, són estables a temperatura ambient durant 3 o 4 dies. Les mostres poden enviar-se, convenientment protegides, per correu ordinari o missatger.

qGenEx® CA. Panell Cardiología

qGenEx® CA. Panell Cardiologia

Fes servir el buscador per trobar el gen o grup de gens relacionats amb la patologia que t’interessa i que formen part del panell:

Una anàlisi per a cada metge especialista i, al mateix temps, per a tots!

1) Emplenar la sol·licitud del test.

2) Imprimir el full de sol·licitud.

3) Obtenir la mostra biològica.

4) Preparar la mostra de manera adequada per al seu enviament.

5) Enviar la mostra al laboratori o demanar-ne la recollida trucant al 932 301 270

Truca’ns al 932 301 270 quan ho tinguis tot preparat i passarem a recollir les teves mostres.

qGenEx® AC. Panell d’Anomalies Esquelètiques i Cranials

qGenEx® CA. Panell Cardiología

qGenEx® DI. Panell Discapacitat Intel·lectual

qGenEx® EM. Panell d’Enfermetats Mitocondrials

qGenEx® EP. Panel d’Epilèpsia

qGenEx® EV. Panell patologies de la Visió

qGenEx® HH. Panell d’Hipogonadisme hipogonadotròfic

qGenEx® IP. Immunodeficiències Primàries

qGenEx® MEN. Panel Mendelioma

qGenEx® MI. Panell Miopaties

qGenEx® NE. Panell Neuropaties

qGenEx® PC. Panell Ciliopaties

qGenEx® SC. Panell Sordeses

qGenEx® TDS. Panell Trastorns del Desenvolupament Sexual

qGenEx® THi. Panell Trastornos del metabolisme del Ferro

qGenEx® THT. Panell Trastorns Hematològics

qGenEx® TM. Panell Trastorns del Metabolisme

qGenEx® TMV. Panell Trastorns del Moviment

qGenEx® TR. Panel Malalties Renals

qGenEx® EP. Panell d’Enfermetats de la Pell

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El test más rápido para detectar COVID-19 es la RT-PCR

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Tel. 932 301 270