| 1 | Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant | Enrichment | CTNNA3, DSC2, DSG2, DSP, JUP, LMNA, PKP2, RYR2 | 10.85 |
| 2 | Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant | Enrichment | CTNNA3, DSC2, DSG2, DSP, JUP, LMNA, PKP2, RYR2 | 10.85 |
| 3 | Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant | Enrichment | CDH2, CTNNA3, DSC2, DSG2, DSP, JUP, LMNA, PKP2, RYR2 | 10.84 |
| 4 | Dilated cardiomyopathy | Enrichment | ACTN2, DES, DMD, DSG2, DSP, EMD, JUP, LAMA2, LMNA, SGCB, SGCD | 10.49 |
| 5 | Arrhythmogenic right ventricular cardiomyopathy | Enrichment | ACTN2, CTNNA3, DES, DSC2, DSG2, DSP, JUP, LMNA, PKP2, RYR2 | 10.47 |
| 6 | Long qt syndrome | Enrichment | CACNA1C, CACNA1S, CTNNA3, DSG2, DSP, LMNA, RYR2 | 9.59 |
| 7 | Cardiac conduction defect | Enrichment | CACNA1C, DSG2, DSP, LMNA, RYR2 | 8.49 |
| 8 | Catecholaminergic polymorphic ventricular tachycardia | Enrichment | CALM1, CALM2, CALM3, RYR2 | 8.02 |
| 9 | Familial isolated dilated cardiomyopathy | Enrichment | ACTN2, DES, DMD, DSG2, DSP, LMNA, SGCD | 7.87 |
| 10 | Noonan syndrome 1 | Enrichment | HRAS, KRAS, MRAS, NRAS, RRAS, RRAS2 | 7.75 |
| 11 | Long qt syndrome 1 | Enrichment | CACNA1C, CALM1, CALM2, CALM3, SNTA1 | 7.22 |
| 12 | Arrhythmogenic right ventricular dysplasia, familial, 9 | Enrichment | DSG2, DSP, LMNA, PKP2 | 7.00 |
| 13 | Familial isolated arrhythmogenic right ventricular dysplasia | Enrichment | DSC2, DSG2, DSP, PKP2 | 7.00 |
| 14 | Brugada syndrome | Enrichment | CACNA1C, CACNA2D1, CACNB2, LMNA, PKP2 | 6.60 |
| 15 | Autoimmune lymphoproliferative syndrome | Enrichment | CASP10, FAS, FASLG | 5.99 |
| 16 | Lung non-small cell carcinoma | Enrichment | EGFR, HRAS, KRAS, NRAS | 5.95 |
| 17 | Left ventricular noncompaction | Enrichment | ACTN2, DSP, LMNA, PKP2, RYR2 | 5.92 |
| 18 | Rasopathy | Enrichment | HRAS, KRAS, MRAS, NRAS, RRAS2 | 5.82 |
| 19 | Ventricular septal defect 1 | Enrichment | BMP2, BMP7, GATA4 | 5.74 |
| 20 | Congenital heart defects, multiple types, 4 | Enrichment | BMP7, GATA4, GATA6 | 5.74 |
| 21 | Schimmelpenning-feuerstein-mims syndrome | Enrichment | HRAS, KRAS, NRAS | 5.73 |
| 22 | Neuromuscular disease | Enrichment | DES, EMD, LMNA, SGCD | 5.63 |
| 23 | Patent foramen ovale | Enrichment | GATA4, GATA6, NKX2-5, TAB2 | 5.54 |
| 24 | Autosomal recessive limb-girdle muscular dystrophy | Enrichment | SGCA, SGCB, SGCD, SGCG | 5.53 |
| 25 | Fetomaternal alloimmune thrombocytopenia 1 | Enrichment | ITGA2, ITGA2B, ITGB3 | 5.51 |
| 26 | Lung cancer susceptibility 3 | Enrichment | ACTA2, EGFR, KRAS, RB1 | 5.48 |
| 27 | Juvenile polyposis syndrome | Enrichment | BMPR1A, SMAD4 | 5.47 |
| 28 | Pulmonary arterial hypertension associated with congenital heart disease | Enrichment | BMPR2, SMAD9 | 5.47 |
| 29 | Brachydactyly, type a2 | Enrichment | BMP2, BMPR1B | 5.16 |
| 30 | Muscular dystrophy | Enrichment | DMD, LMNA, SGCA, SGCD | 5.10 |
| 31 | Familial atrial fibrillation | Enrichment | GATA4, GATA5, GATA6, NKX2-5 | 5.01 |
| 32 | Generalized juvenile polyposis/juvenile polyposis coli | Enrichment | BMPR1A, SMAD4 | 4.94 |
| 33 | Tetralogy of fallot | Enrichment | GATA4, GATA5, GATA6, NKX2-5 | 4.86 |
| 34 | Undetermined early-onset epileptic encephalopathy | Enrichment | CACNA1A, CACNA1B, CACNA2D1 | 4.85 |
| 35 | Nevus, epidermal | Enrichment | HRAS, KRAS, NRAS | 4.80 |
| 36 | Rubinstein-taybi syndrome 1 | Enrichment | CREBBP, EP300 | 4.77 |
| 37 | Chromosome 16p13.3 deletion syndrome, proximal | Enrichment | CREBBP, EP300 | 4.77 |
| 38 | Autosomal dominant macrothrombocytopenia | Enrichment | ACTN1, ITGA2B, ITGB3 | 4.74 |
| 39 | Creatine phosphokinase, elevated serum | Enrichment | CAPN3, DAG1, DMD | 4.65 |
| 40 | Isolated elevated serum creatine phosphokinase levels | Enrichment | CAPN3, DAG1, DMD | 4.65 |
| 41 | Heritable pulmonary arterial hypertension | Enrichment | ACVRL1, BMPR2, SMAD9 | 4.53 |
| 42 | Progressive familial heart block | Enrichment | DES, DSP | 4.53 |
| 43 | Baraitser-winter cerebrofrontofacial syndrome | Enrichment | ACTB, ACTG1 | 4.53 |
| 44 | Fibrodysplasia ossificans progressiva | Enrichment | ACVR1, BMPR2 | 4.49 |
| 45 | Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures | Enrichment | CACNA1A, CACNA1C | 4.44 |
| 46 | Congenital myopathy | Enrichment | CACNA1S, CHRNA1, RYR1 | 4.41 |
| 47 | Aortic valve disease 1 | Enrichment | GATA5, NKX2-5, TAB2 | 4.30 |
| 48 | Centronuclear myopathy | Enrichment | CACNA1S, CHRNA1, RYR1 | 4.28 |
| 49 | Ras-associated autoimmune leukoproliferative disorder | Enrichment | KRAS, NRAS | 4.22 |
| 50 | Heart disease | Enrichment | CREBBP, GATA4, NKX2-5 | 4.20 |
| 51 | Bladder cancer | Enrichment | EGFR, HRAS, KRAS, RB1 | 4.14 |
| 52 | Ventricular fibrillation, paroxysmal familial, 1 | Enrichment | CACNA1C, RYR2 | 4.14 |
| 53 | Malignant hyperthermia | Enrichment | CACNA1S, RYR1 | 4.14 |
| 54 | Bleeding disorder, platelet-type, 16 | Enrichment | ITGA2B, ITGB3 | 4.06 |
| 55 | Epidermolysis bullosa, lethal acantholytic | Enrichment | DSP, JUP | 4.06 |
| 56 | Juvenile myelomonocytic leukemia | Enrichment | KRAS, NRAS, RRAS | 4.01 |
| 57 | Lip and oral cavity carcinoma | Enrichment | EGFR, HRAS, RB1 | 4.01 |
| 58 | Cardiomyopathy, dilated, 1e | Enrichment | DES, LMNA, PKP2 | 4.00 |
| 59 | Rare genetic intellectual disability | Enrichment | CREBBP, EP300 | 3.93 |
| 60 | Psoriatic arthritis | Enrichment | LTA, TNF | 3.92 |
| 61 | Heart conduction disease | Enrichment | CACNA1C, RYR2 | 3.91 |
| 62 | Emery-dreifuss muscular dystrophy 1, x-linked | Enrichment | EMD, LMNA | 3.76 |
| 63 | Emery-dreifuss muscular dystrophy | Enrichment | EMD, LMNA | 3.76 |
| 64 | Large congenital melanocytic nevus | Enrichment | HRAS, NRAS | 3.74 |
| 65 | Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy | Enrichment | CALM1, RYR2 | 3.74 |
| 66 | Cardiomyopathy, dilated, 1a | Enrichment | DSC2, DSP, LMNA | 3.71 |
| 67 | Noonan syndrome and noonan-related syndrome | Enrichment | HRAS, KRAS, NRAS | 3.71 |
| 68 | Arrhythmogenic right ventricular dysplasia, familial, 1 | Enrichment | DSC2, PKP2 | 3.54 |
| 69 | Cardiac arrest | Enrichment | CACNA2D1, DSP | 3.54 |
| 70 | Arrhythmogenic right ventricular dysplasia 1 | Enrichment | DSC2, PKP2 | 3.54 |
| 71 | Persistent truncus arteriosus | Enrichment | GATA6, NKX2-5 | 3.49 |
| 72 | Multiple pterygium syndrome, lethal type | Enrichment | CHRNA1, RYR1 | 3.47 |
| 73 | Congenital muscular dystrophy | Enrichment | CAPN3, RYR1 | 3.47 |
| 74 | Catecholaminergic polymorphic ventricular tachycardia 1 | Enrichment | CALM1, RYR2 | 3.47 |
| 75 | Chronic myelogenous leukemia, bcr-abl1 positive | Enrichment | KRAS, NRAS | 3.44 |
| 76 | Myopathy | Enrichment | CAPN3, DMD, RYR1 | 3.43 |
| 77 | Autosomal recessive limb-girdle muscular dystrophy type 2b | Enrichment | CAPN3, LMNA | 3.40 |
| 78 | Epidermolysis bullosa, junctional 5b, with pyloric atresia | Enrichment | ITGA6, ITGB4 | 3.36 |
| 79 | Inherited arrhythmogenic cardiomyopathy | Enrichment | DSP, PKP2 | 3.36 |
| 80 | Ellis-van creveld syndrome | Enrichment | PRKACA, PRKACB | 3.36 |
| 81 | Hydrops fetalis | Enrichment | RYR1, RYR3 | 3.36 |
| 82 | Developmental and epileptic encephalopathy | Enrichment | CACNA1E, CACNA2D2 | 3.35 |
| 83 | Conotruncal heart malformations | Enrichment | GATA6, NKX2-5 | 3.32 |
| 84 | Glanzmann thrombasthenia 1 | Enrichment | ITGA2B, ITGB3 | 3.22 |
| 85 | Migraine with or without aura 1 | Enrichment | CACNA1A, CAPN3 | 3.18 |
| 86 | Hereditary hemorrhagic telangiectasia | Enrichment | ACVRL1, SMAD4 | 3.17 |
| 87 | Familial hypertrophic cardiomyopathy | Enrichment | ACTN2, DES, DMD | 3.12 |
| 88 | Myocarditis | Enrichment | DSP, LMNA | 3.09 |
| 89 | Epilepsy, idiopathic generalized 9 | Enrichment | CACNB4 | 3.05 |
| 90 | Brugada syndrome 4 | Enrichment | CACNB2 | 3.05 |
| 91 | Episodic ataxia, type 5 | Enrichment | CACNB4 | 3.05 |
| 92 | Intellectual developmental disorder, autosomal dominant 10 | Enrichment | CACNG2 | 3.05 |
| 93 | Developmental and epileptic encephalopathy 110 | Enrichment | CACNA2D1 | 3.05 |
| 94 | Developmental and epileptic encephalopathy 69 | Enrichment | CACNA1E | 3.05 |
| 95 | Sporadic hemiplegic migraine | Enrichment | CACNA1A | 3.05 |
| 96 | Benign paroxysmal torticollis of infancy | Enrichment | CACNA1A | 3.05 |
| 97 | Lung squamous cell carcinoma | Enrichment | EGFR, KRAS | 3.05 |
| 98 | Lennox-gastaut syndrome | Enrichment | CACNA1A, MAPK10 | 3.05 |
| 99 | Junctional epidermolysis bullosa | Enrichment | ITGA6, ITGB4 | 2.99 |
| 100 | Cone-rod dystrophy 6 | Enrichment | CACNA1F, CACNA2D4 | 2.96 |
| 101 | Lung cancer | Enrichment | CASP8, FAS, FASLG | 2.96 |
| 102 | Polyposis syndrome, hereditary mixed, 2 | Enrichment | BMPR1A | 2.96 |
| 103 | Acromesomelic dysplasia 3 | Enrichment | BMPR1B | 2.96 |
| 104 | Brachydactyly, type a1, d | Enrichment | BMPR1B | 2.96 |
| 105 | Pulmonary hypertension, primary, 2 | Enrichment | SMAD9 | 2.96 |
| 106 | 20p12.3 microdeletion syndrome | Enrichment | BMP2 | 2.96 |
| 107 | Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 | Enrichment | BMP2 | 2.96 |
| 108 | Menke-hennekam syndrome 1 | Enrichment | CREBBP | 2.96 |
| 109 | Heritable thoracic aortic disease | Enrichment | SMAD4 | 2.96 |
| 110 | Rubinstein-taybi syndrome due to 16p13.3 microdeletion | Enrichment | CREBBP | 2.96 |
| 111 | Primary pulmonary hypertension | Enrichment | BMPR2 | 2.96 |
| 112 | Pulmonary hypertension | Enrichment | BMPR2 | 2.96 |
| 113 | Drug- or toxin-induced pulmonary arterial hypertension | Enrichment | BMPR2 | 2.96 |
| 114 | Menke-hennekam syndrome | Enrichment | CREBBP | 2.96 |
| 115 | Lymphoma, non-hodgkin, familial | Enrichment | CASP10, PRF1 | 2.95 |
| 116 | Ovarian cancer | Enrichment | CDKN1B, EGFR, KRAS, RB1, RRAS2 | 2.94 |
| 117 | Thyroid cancer, nonmedullary, 2 | Enrichment | HRAS, NRAS | 2.91 |
| 118 | Leukemia, chronic myeloid | Enrichment | KRAS, NRAS | 2.91 |
| 119 | Noonan syndrome 3 | Enrichment | HRAS, KRAS | 2.91 |
| 120 | Follicular thyroid carcinoma | Enrichment | HRAS, NRAS | 2.91 |
| 121 | Differentiated thyroid carcinoma | Enrichment | HRAS, KRAS, NRAS | 2.84 |
| 122 | Melanocytic nevus syndrome, congenital | Enrichment | HRAS, NRAS | 2.78 |
| 123 | Alternating hemiplegia of childhood 1 | Enrichment | CACNA1A | 2.75 |
| 124 | Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements | Enrichment | CACNA1B | 2.75 |
| 125 | Progressive bulbar palsy | Enrichment | CACNA1A | 2.75 |
| 126 | Non-immune hydrops fetalis | Enrichment | ACTA1, HRAS, KRAS | 2.75 |
| 127 | Beckwith-wiedemann syndrome | Enrichment | DMD, RYR1 | 2.74 |
| 128 | Muscular dystrophy, limb-girdle, autosomal recessive 2 | Enrichment | LMNA, SGCB | 2.73 |
| 129 | Myhre syndrome | Enrichment | SMAD4 | 2.66 |
| 130 | Thumb deformity | Enrichment | CREBBP | 2.66 |
| 131 | Pulmonary venoocclusive disease 1, autosomal dominant | Enrichment | BMPR2 | 2.66 |
| 132 | Histiocytoma, angiomatoid fibrous | Enrichment | CREB1 | 2.66 |
| 133 | Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | Enrichment | SMAD4 | 2.66 |
| 134 | Menke-hennekam syndrome 2 | Enrichment | EP300 | 2.66 |
| 135 | Pulmonary venoocclusive disease 1 | Enrichment | BMPR2 | 2.66 |
| 136 | Acute myeloid leukemia with kat6a-crebbp fusion | Enrichment | CREBBP | 2.66 |
| 137 | Craniosynostosis 7 | Enrichment | BMP2 | 2.66 |
| 138 | Hereditary mixed polyposis syndrome | Enrichment | BMPR1A | 2.66 |
| 139 | Pulmonary venoocclusive disease | Enrichment | BMPR2 | 2.66 |
| 140 | Juvenile polyposis of infancy | Enrichment | BMPR1A | 2.66 |
| 141 | Idiopathic/heritable pulmonary arterial hypertension | Enrichment | BMPR2 | 2.66 |
| 142 | Thrombocytopenia | Enrichment | ACTN1, ITGA2B, ITGB3 | 2.65 |
| 143 | Pulmonary hypertension, primary, 1 | Enrichment | ACVRL1, BMPR2 | 2.61 |
| 144 | Acute promyelocytic leukemia | Enrichment | PRKAR1A, STAT3 | 2.61 |
| 145 | Van der woude syndrome 1 | Enrichment | CACNA1E | 2.58 |
| 146 | Hereditary episodic ataxia | Enrichment | CACNA1A | 2.58 |
| 147 | Congenital stationary night blindness | Enrichment | CACNA1F, CACNA2D4 | 2.53 |
| 148 | Brachydactyly, type a1 | Enrichment | BMPR1B | 2.48 |
| 149 | Brachydactyly, type c | Enrichment | BMPR1B | 2.48 |
| 150 | Acromesomelic dysplasia 2a | Enrichment | BMPR1B | 2.48 |
| 151 | Acromesomelic dysplasia 2c | Enrichment | BMPR1B | 2.48 |
| 152 | Acromesomelic dysplasia 2b | Enrichment | BMPR1B | 2.48 |
| 153 | Transposition of the great arteries, dextro-looped | Enrichment | BMP2 | 2.48 |
| 154 | Tethered spinal cord syndrome | Enrichment | CREBBP | 2.48 |
| 155 | Intraocular pressure quantitative trait locus | Enrichment | CREBBP | 2.48 |
| 156 | Melanoma of soft tissue | Enrichment | CREB1 | 2.48 |
| 157 | Migraine, familial hemiplegic, 1 | Enrichment | CACNA1A | 2.45 |
| 158 | Spinocerebellar ataxia 6 | Enrichment | CACNA1A | 2.45 |
| 159 | Developmental and epileptic encephalopathy 2 | Enrichment | CACNA1A | 2.45 |
| 160 | Developmental and epileptic encephalopathy 42 | Enrichment | CACNA1A | 2.45 |
| 161 | Cerebellar atrophy with seizures and variable developmental delay | Enrichment | CACNA2D2 | 2.45 |
| 162 | Developmental and epileptic encephalopathy 52 | Enrichment | CACNA1A | 2.45 |
| 163 | Episodic ataxia | Enrichment | CACNA1A | 2.45 |
| 164 | Familial or sporadic hemiplegic migraine | Enrichment | CACNA1A | 2.45 |
| 165 | Acrodysostosis 1 with or without hormone resistance | Enrichment | PRKAR1A | 2.45 |
| 166 | Thyrotoxic periodic paralysis 1 | Enrichment | CACNA1S | 2.45 |
| 167 | Carney complex, type 1 | Enrichment | PRKAR1A | 2.45 |
| 168 | Noonan syndrome 13 | Enrichment | MAPK1 | 2.45 |
| 169 | Neurodevelopmental disorder with speech impairment and with or without seizures | Enrichment | CACNA1I | 2.45 |
| 170 | Congenital myopathy 18 | Enrichment | CACNA1S | 2.45 |
| 171 | Cone-rod dystrophy, x-linked, 3 | Enrichment | CACNA1F | 2.45 |
| 172 | Retinal cone dystrophy 4 | Enrichment | CACNA2D4 | 2.45 |
| 173 | Cardioacrofacial dysplasia 2 | Enrichment | PRKACB | 2.45 |
| 174 | Myxoma, intracardiac | Enrichment | PRKAR1A | 2.45 |
| 175 | Primary aldosteronism, seizures, and neurologic abnormalities | Enrichment | CACNA1D | 2.45 |
| 176 | Brugada syndrome 3 | Enrichment | CACNA1C | 2.45 |
| 177 | Epilepsy, childhood absence 6 | Enrichment | CACNA1H | 2.45 |
| 178 | Malignant hyperthermia 5 | Enrichment | CACNA1S | 2.45 |
| 179 | Sinoatrial node dysfunction and deafness | Enrichment | CACNA1D | 2.45 |
| 180 | Pigmented nodular adrenocortical disease, primary, 4 | Enrichment | PRKACA | 2.45 |
| 181 | Spinocerebellar ataxia 42 | Enrichment | CACNA1G | 2.45 |
| 182 | Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits | Enrichment | CACNA1G | 2.45 |
| 183 | Cardioacrofacial dysplasia 1 | Enrichment | PRKACA | 2.45 |
| 184 | Hyperaldosteronism, familial, type iv | Enrichment | CACNA1H | 2.45 |
| 185 | Prkar1b-related neurodegenerative dementia with intermediate filaments | Enrichment | PRKAR1B | 2.45 |
| 186 | Conn's syndrome | Enrichment | CACNA1H | 2.45 |
| 187 | Atypical timothy syndrome | Enrichment | CACNA1C | 2.45 |
| 188 | Aldosterone-producing adenoma with seizures and neurological abnormalities | Enrichment | CACNA1D | 2.45 |
| 189 | Timothy syndrome type 2 | Enrichment | CACNA1C | 2.45 |
| 190 | Periodic paralysis with transient compartment-like syndrome | Enrichment | CACNA1S | 2.45 |
| 191 | Timothy syndrome type 1 | Enrichment | CACNA1C | 2.45 |
| 192 | Cacna1c-related disorders | Enrichment | CACNA1C | 2.45 |
| 193 | Pyloric stenosis, infantile hypertrophic, 1 | Enrichment | NOS1 | 2.45 |
| 194 | Muscular dystrophy, becker type | Enrichment | DMD | 2.45 |
| 195 | Muscular dystrophy-dystroglycanopathy , type a, 9 | Enrichment | DAG1 | 2.45 |
| 196 | Vitreoretinopathy, neovascular inflammatory | Enrichment | CAPN5 | 2.45 |
| 197 | Congenital myopathy 20 | Enrichment | RYR3 | 2.45 |
| 198 | Pulmonary hypertension, primary, 6 | Enrichment | CAPNS1 | 2.45 |
| 199 | Cardiomyopathy, dilated, 3b | Enrichment | DMD | 2.45 |
| 200 | Long qt syndrome 12 | Enrichment | SNTA1 | 2.45 |
| 201 | Long qt syndrome 16 | Enrichment | CALM3 | 2.45 |
| 202 | Muscular dystrophy-dystroglycanopathy , type c, 9 | Enrichment | DAG1 | 2.45 |
| 203 | Polycystic ovary syndrome | Enrichment | CAPN10 | 2.45 |
| 204 | Congenital myopathy with myasthenic-like onset | Enrichment | RYR1 | 2.45 |
| 205 | Long qt syndrome 15 | Enrichment | CALM2 | 2.45 |
| 206 | Symptomatic form of muscular dystrophy of duchenne and becker in female carriers | Enrichment | DMD | 2.45 |
| 207 | Progressive muscular atrophy | Enrichment | CAPN3 | 2.45 |
| 208 | Duchenne and becker muscular dystrophy | Enrichment | DMD | 2.45 |
| 209 | Muscle-eye-brain disease with bilateral multicystic leucodystrophy | Enrichment | DAG1 | 2.45 |
| 210 | Qualitative or quantitative defects of calpain | Enrichment | CAPN3 | 2.45 |
| 211 | Calf-predominant weakness-gastrocnemius medialis atrophy-distal myopathy | Enrichment | RYR1 | 2.45 |
| 212 | Qualitative or quantitative defects of dystrophin | Enrichment | DMD | 2.45 |
| 213 | Benign samaritan congenital myopathy | Enrichment | RYR1 | 2.45 |
| 214 | Colorectal cancer | Enrichment | EP300, SMAD4 | 2.39 |
| 215 | Episodic ataxia, type 2 | Enrichment | CACNA1A | 2.35 |
| 216 | Congenital short qt syndrome | Enrichment | CACNA2D1 | 2.35 |
| 217 | Neuropathy, hereditary motor and sensory, okinawa type | Enrichment | EMD, LMNA | 2.33 |
| 218 | Diffuse large b-cell lymphoma | Enrichment | CREBBP, STAT3 | 2.28 |
| 219 | Palmoplantar keratoderma and congenital alopecia 1 | Enrichment | GJA1 | 2.26 |
| 220 | Hypoplastic left heart syndrome 1 | Enrichment | GJA1 | 2.26 |
| 221 | Baraitser-winter syndrome 1 | Enrichment | ACTB | 2.26 |
| 222 | Muscular dystrophy, limb-girdle, autosomal recessive 6 | Enrichment | SGCD | 2.26 |
| 223 | Focal segmental glomerulosclerosis 1 | Enrichment | ACTN4 | 2.26 |
| 224 | Arrhythmogenic right ventricular dysplasia, familial, 12 | Enrichment | JUP | 2.26 |
| 225 | Macular dystrophy, patterned, 2 | Enrichment | CTNNA1 | 2.26 |
| 226 | Cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction | Enrichment | ACTN2 | 2.26 |
| 227 | Oculodentodigital dysplasia | Enrichment | GJA1 | 2.26 |
| 228 | Scapuloperoneal syndrome, neurogenic, kaeser type | Enrichment | DES | 2.26 |
| 229 | Muscular dystrophy, limb-girdle, autosomal recessive 5 | Enrichment | SGCG | 2.26 |
| 230 | Arrhythmogenic right ventricular dysplasia, familial, 13 | Enrichment | CTNNA3 | 2.26 |
| 231 | Craniometaphyseal dysplasia, autosomal recessive | Enrichment | GJA1 | 2.26 |
| 232 | Ectodermal dysplasia 17 with or without limb malformations | Enrichment | LEF1 | 2.26 |
| 233 | Naxos disease | Enrichment | JUP | 2.26 |
| 234 | Cortical dysplasia, complex, with other brain malformations 9 | Enrichment | CTNNA2 | 2.26 |
| 235 | Congenital myopathy 8 | Enrichment | ACTN2 | 2.26 |
| 236 | Fetomaternal alloimmune thrombocytopenia 2 | Enrichment | ITGA2B | 2.26 |
| 237 | Congenital smooth muscle hamartoma, with or without hemihypertrophy | Enrichment | ACTB | 2.26 |
| 238 | Cardiomyopathy, dilated, 1l | Enrichment | SGCD | 2.26 |
| 239 | Agenesis of corpus callosum, cardiac, ocular, and genital syndrome | Enrichment | CDH2 | 2.26 |
| 240 | Oculodentodigital dysplasia, autosomal recessive | Enrichment | GJA1 | 2.26 |
| 241 | Actn3 deficiency | Enrichment | ACTN3 | 2.26 |
| 242 | Becker nevus syndrome | Enrichment | ACTB | 2.26 |
| 243 | Dystonia-deafness syndrome 1 | Enrichment | ACTB | 2.26 |
| 244 | Arrhythmogenic right ventricular dysplasia, familial, 14 | Enrichment | CDH2 | 2.26 |
| 245 | Autosomal recessive limb-girdle muscular dystrophy type 2c | Enrichment | SGCG | 2.26 |
| 246 | Bleeding disorder, platelet-type, 15 | Enrichment | ACTN1 | 2.26 |
| 247 | Atypical werner syndrome | Enrichment | LMNA | 2.26 |
| 248 | Erythrokeratodermia variabilis et progressiva 3 | Enrichment | GJA1 | 2.26 |
| 249 | Autosomal recessive limb-girdle muscular dystrophy type 2f | Enrichment | SGCD | 2.26 |
| 250 | Thrombocytopenia 8, with dysmorphic features and developmental delay | Enrichment | ACTB | 2.26 |
| 251 | Myopathy, distal, 6, adult-onset, autosomal dominant | Enrichment | ACTN2 | 2.26 |
| 252 | Attention deficit-hyperactivity disorder 8 | Enrichment | CDH2 | 2.26 |
| 253 | Adenoid ameloblastoma | Enrichment | CTNNB1 | 2.26 |
| 254 | Amelogenesis imperfecta, type ih | Enrichment | ITGB6 | 2.26 |
| 255 | Baraitser-winter syndrome | Enrichment | ACTB | 2.26 |
| 256 | Mandibuloacral dysplasia | Enrichment | LMNA | 2.26 |
| 257 | Atrioventricular block | Enrichment | LMNA | 2.26 |
| 258 | Skin fragility-woolly hair-palmoplantar keratoderma syndrome | Enrichment | DSP | 2.26 |
| 259 | Rhabdomyolysis 2 | Enrichment | ATP2A2 | 2.26 |
| 260 | Qualitative or quantitative defects of sarcoglycan | Enrichment | SGCA | 2.26 |
| 261 | Fetomaternal alloimmune thrombocytopenia 3 | Enrichment | ITGA2 | 2.26 |
| 262 | Immune dysregulation, neurodevelopmental defects, and colitis | Enrichment | ITGAV | 2.26 |
| 263 | Congenital smooth muscle hamartoma | Enrichment | ACTB | 2.26 |
| 264 | Developmental malformations-deafness-dystonia syndrome | Enrichment | ACTB | 2.26 |
| 265 | Lmna-related cardiocutaneous progeria syndrome | Enrichment | LMNA | 2.26 |
| 266 | Autosomal semi-dominant severe lipodystrophic laminopathy | Enrichment | LMNA | 2.26 |
| 267 | Microcystic stromal tumor | Enrichment | CTNNB1 | 2.26 |
| 268 | Autosomal recessive axonal hereditary motor and sensory neuropathy | Enrichment | LMNA | 2.26 |
| 269 | Laminin subunit alpha 2-related muscular dystrophy | Enrichment | LAMA2 | 2.26 |
| 270 | Laminopathy | Enrichment | LMNA | 2.26 |
| 271 | Rubinstein-taybi syndrome 2 | Enrichment | EP300 | 2.26 |
| 272 | Atrial septal defect 7 with or without atrioventricular conduction defects | Enrichment | NKX2-5 | 2.24 |
| 273 | Cardiospondylocarpofacial syndrome | Enrichment | MAP3K7 | 2.24 |
| 274 | Hypothyroidism, congenital, nongoitrous, 5 | Enrichment | NKX2-5 | 2.24 |
| 275 | Anemia, congenital, nonspherocytic hemolytic, 9 | Enrichment | GATA1 | 2.24 |
| 276 | Thrombocytopenia, x-linked, with or without dyserythropoietic anemia | Enrichment | GATA1 | 2.24 |
| 277 | Thrombocytopenia with beta-thalassemia, x-linked | Enrichment | GATA1 | 2.24 |
| 278 | Telangiectasia, hereditary hemorrhagic, type 2 | Enrichment | ACVRL1 | 2.24 |
| 279 | Frontometaphyseal dysplasia 2 | Enrichment | MAP3K7 | 2.24 |
| 280 | Atrioventricular septal defect 4 | Enrichment | GATA4 | 2.24 |
| 281 | Atrioventricular septal defect 5 | Enrichment | GATA6 | 2.24 |
| 282 | Congenital heart defects, multiple types, 5 | Enrichment | GATA5 | 2.24 |
| 283 | Anemia, x-linked, with or without neutropenia and/or platelet abnormalities | Enrichment | GATA1 | 2.24 |
| 284 | Lymphedema, primary, with myelodysplasia | Enrichment | GATA2 | 2.24 |
| 285 | Microphthalmia, syndromic 6 | Enrichment | BMP4 | 2.24 |
| 286 | Orofacial cleft 11 | Enrichment | BMP4 | 2.24 |
| 287 | T-cell large granular lymphocyte leukemia | Enrichment | STAT3 | 2.24 |
| 288 | Atrial septal defect 2 | Enrichment | GATA4 | 2.24 |
| 289 | Ventricular septal defect 3 | Enrichment | NKX2-5 | 2.24 |
| 290 | Immunodeficiency 21 | Enrichment | GATA2 | 2.24 |
| 291 | Testicular anomalies with or without congenital heart disease | Enrichment | GATA4 | 2.24 |
| 292 | Hypoplastic left heart syndrome 2 | Enrichment | NKX2-5 | 2.24 |
| 293 | Atrial septal defect 9 | Enrichment | GATA6 | 2.24 |
| 294 | Autoimmune disease, multisystem, infantile-onset, 1 | Enrichment | STAT3 | 2.24 |
| 295 | 8p23.1 microdeletion syndrome | Enrichment | GATA4 | 2.24 |
| 296 | Deafness-lymphedema-leukemia syndrome | Enrichment | GATA2 | 2.24 |
| 297 | Telangiectasis | Enrichment | ACVRL1 | 2.24 |
| 298 | Acute megakaryoblastic leukemia in children with down syndrome | Enrichment | GATA1 | 2.24 |
| 299 | Thrombocytopenia with congenital dyserythropoietic anemia | Enrichment | GATA1 | 2.24 |
| 300 | Stat3-related early-onset multisystem autoimmune disease | Enrichment | STAT3 | 2.24 |
| 301 | Aortic arch interruption | Enrichment | NKX2-5 | 2.24 |
| 302 | Atrial heart septal defect 7 | Enrichment | NKX2-5 | 2.24 |
| 303 | Partial atrioventricular septal defect with ventricular hypoplasia | Enrichment | GATA4 | 2.24 |
| 304 | Chronic lymphoproliferative disorder of natural killer cells | Enrichment | STAT3 | 2.24 |
| 305 | Polyvalvular heart disease syndrome | Enrichment | TAB2 | 2.24 |
| 306 | Congenital myopathy 4a, autosomal dominant | Enrichment | ACTA1, ITGA7 | 2.23 |
| 307 | Cone-rod dystrophy 2 | Enrichment | CACNA1F, CACNA2D4, ITGA4 | 2.22 |
| 308 | Brugada syndrome 1 | Enrichment | CACNA2D1 | 2.21 |
| 309 | Periodic fever, familial, autosomal dominant | Enrichment | TNFRSF1A | 2.19 |
| 310 | Leukodystrophy, demyelinating, adult-onset, autosomal dominant, typical | Enrichment | LMNB1 | 2.19 |
| 311 | Hemophagocytic lymphohistiocytosis, familial, 2 | Enrichment | PRF1 | 2.19 |
| 312 | Caspase 8 deficiency | Enrichment | CASP8 | 2.19 |
| 313 | Leprosy 4 | Enrichment | LTA | 2.19 |
| 314 | Intellectual developmental disorder with macrocephaly, seizures, and speech delay | Enrichment | PAK1 | 2.19 |
| 315 | Adult onset demyelinating leukodystrophy | Enrichment | LMNB1 | 2.19 |
| 316 | Epilepsy, progressive myoclonic, 9 | Enrichment | LMNB2 | 2.19 |
| 317 | Thrombocytopenia 4 | Enrichment | CYCS | 2.19 |
| 318 | Autoimmune lymphoproliferative syndrome, type iia | Enrichment | CASP10 | 2.19 |
| 319 | Lipodystrophy, partial, acquired | Enrichment | LMNB2 | 2.19 |
| 320 | Intellectual developmental disorder, autosomal recessive 34, with variant lissencephaly | Enrichment | CRADD | 2.19 |
| 321 | Immunodeficiency 26 with or without neurologic abnormalities | Enrichment | PRKDC | 2.19 |
| 322 | Multiple sclerosis 5 | Enrichment | TNFRSF1A | 2.19 |
| 323 | Immunodeficiency 90 with encephalopathy, functional hyposplenia, and hepatic dysfunction | Enrichment | FADD | 2.19 |
| 324 | Microcephaly 26, primary, autosomal dominant | Enrichment | LMNB1 | 2.19 |
| 325 | Tnf receptor-associated periodic fever syndrome | Enrichment | TNFRSF1A | 2.19 |
| 326 | Acid sphingomyelinase deficiency | Enrichment | SMPD1 | 2.19 |
| 327 | Microcephaly 27, primary, autosomal dominant | Enrichment | LMNB2 | 2.19 |
| 328 | Trilateral retinoblastoma | Enrichment | RB1 | 2.19 |
| 329 | Intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly | Enrichment | CASP2 | 2.19 |
| 330 | Immunodeficiency 112 | Enrichment | MAP3K14 | 2.19 |
| 331 | Silver-russell syndrome due to maternal uniparental disomy of chromosome 7 | Enrichment | GRB10 | 2.19 |
| 332 | Fatal post-viral neurodegenerative disorder | Enrichment | PRF1 | 2.19 |
| 333 | Nik deficiency | Enrichment | MAP3K14 | 2.19 |
| 334 | Lung oat cell carcinoma | Enrichment | RB1 | 2.19 |
| 335 | Behcet syndrome | Enrichment | FAS, TNFRSF1A | 2.19 |
| 336 | Atrial septal defect 1 | Enrichment | BMP2 | 2.18 |
| 337 | Hypertrichosis | Enrichment | CREBBP | 2.18 |
| 338 | Eye disease | Enrichment | CACNA1F, CACNA2D4 | 2.17 |
| 339 | Alternating hemiplegia of childhood | Enrichment | CACNA1A | 2.15 |
| 340 | Difference of sex development | Enrichment | CACNA1A | 2.15 |
| 341 | Amelogenesis imperfecta, type ig | Enrichment | PRKAR1A | 2.15 |
| 342 | Timothy syndrome | Enrichment | CACNA1C | 2.15 |
| 343 | Night blindness, congenital stationary, type 2a | Enrichment | CACNA1F | 2.15 |
| 344 | Pigmented nodular adrenocortical disease, primary, 1 | Enrichment | PRKAR1A | 2.15 |
| 345 | Bleeding disorder, platelet-type, 19 | Enrichment | PRKACG | 2.15 |
| 346 | Spinocerebellar ataxia 23 | Enrichment | PDYN | 2.15 |
| 347 | Long qt syndrome 8 | Enrichment | CACNA1C | 2.15 |
| 348 | Marbach-schaaf neurodevelopmental syndrome | Enrichment | PRKAR1B | 2.15 |
| 349 | Usher syndrome, type iv | Enrichment | PRKAR1A | 2.15 |
| 350 | Acrodysostosis | Enrichment | PRKAR1A | 2.15 |
| 351 | Fibrolamellar carcinoma | Enrichment | PRKACA | 2.15 |
| 352 | Ciliary dyskinesia, primary, 18 | Enrichment | PRKAR1B | 2.15 |
| 353 | Congenital disorder of glycosylation, type iw, autosomal dominant | Enrichment | CACNA1D | 2.15 |
| 354 | Isolated primary pigmented nodular adrenocortical disease | Enrichment | PRKAR1A | 2.15 |
| 355 | Malignant hyperthermia 1 | Enrichment | RYR1 | 2.15 |
| 356 | Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome | Enrichment | RYR2 | 2.15 |
| 357 | Ventricular tachycardia, catecholaminergic polymorphic, 4 | Enrichment | CALM1 | 2.15 |
| 358 | Spastic paraplegia 76, autosomal recessive | Enrichment | CAPN1 | 2.15 |
| 359 | Long qt syndrome 14 | Enrichment | CALM1 | 2.15 |
| 360 | Ventricular tachycardia, catecholaminergic polymorphic, 2 | Enrichment | RYR2 | 2.15 |
| 361 | King-denborough syndrome | Enrichment | RYR1 | 2.15 |
| 362 | Exercise-induced malignant hyperthermia | Enrichment | RYR1 | 2.15 |
| 363 | Cardiomyopathy, familial hypertrophic, 1 | Enrichment | CACNA1C, LMNA | 2.13 |
| 364 | Gallbladder cancer | Enrichment | SMAD4 | 2.11 |
| 365 | Oculoectodermal syndrome | Enrichment | KRAS | 2.11 |
| 366 | Systemic lupus erythematosus 6 | Enrichment | ITGAM | 2.11 |
| 367 | Hypomagnesemia 4, renal | Enrichment | EGF | 2.11 |
| 368 | Melanoma, cutaneous malignant 3 | Enrichment | CDK4 | 2.11 |
| 369 | Congenital myopathy 2a, typical, autosomal dominant | Enrichment | ACTA1 | 2.11 |
| 370 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 | Enrichment | CCND2 | 2.11 |
| 371 | Microcephaly 12, primary, autosomal recessive | Enrichment | CDK6 | 2.11 |
| 372 | Melanosis, neurocutaneous | Enrichment | NRAS | 2.11 |
| 373 | Myopathy, scapulohumeroperoneal | Enrichment | ACTA1 | 2.11 |
| 374 | Noonan syndrome 6 | Enrichment | NRAS | 2.11 |
| 375 | Noonan syndrome 11 | Enrichment | MRAS | 2.11 |
| 376 | Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 | Enrichment | ACTG2 | 2.11 |
| 377 | Cardiofaciocutaneous syndrome 2 | Enrichment | KRAS | 2.11 |
| 378 | Cardiomyopathy, dilated, 1w | Enrichment | VCL | 2.11 |
| 379 | Neuroendocrine tumor | Enrichment | CDKN1B | 2.11 |
| 380 | Visceral neuropathy, familial, 3, autosomal dominant | Enrichment | ACTG2 | 2.11 |
| 381 | Cardiomyopathy, familial hypertrophic, 15 | Enrichment | VCL | 2.11 |
| 382 | Congenital myopathy 2b, severe infantile, autosomal recessive | Enrichment | ACTA1 | 2.11 |
| 383 | Autosomal dominant familial visceral neuropathy | Enrichment | ACTG2 | 2.11 |
| 384 | Thrombocytopenia 6 | Enrichment | SRC | 2.11 |
| 385 | Congenital myopathy 2c, severe infantile, autosomal dominant | Enrichment | ACTA1 | 2.11 |
| 386 | Congenital pulmonary airway malformation | Enrichment | KRAS | 2.11 |
| 387 | Zebra body myopathy | Enrichment | ACTA1 | 2.11 |
| 388 | Capillary leak syndrome | Enrichment | TLN1 | 2.11 |
| 389 | Phakomatosis pigmentokeratotica | Enrichment | HRAS | 2.11 |
| 390 | Actin-accumulation myopathy | Enrichment | ACTA1 | 2.11 |
| 391 | Myopathic intestinal pseudoobstruction | Enrichment | ACTG2 | 2.11 |
| 392 | Egf-related primary hypomagnesemia with intellectual disability | Enrichment | EGF | 2.11 |
| 393 | Neurocutaneous melanocytosis | Enrichment | NRAS | 2.11 |
| 394 | Actg2 visceral myopathy | Enrichment | ACTG2 | 2.11 |
| 395 | Cerebral palsy | Enrichment | CACNA1A, CACNA1C | 2.08 |
| 396 | Hemochromatosis, type 1 | Enrichment | BMP2 | 2.05 |
| 397 | Inherited cancer-predisposing syndrome | Enrichment | BMPR1A, SMAD4 | 2.04 |
| 398 | Arteriovenous malformations of the brain | Enrichment | EGFR, KRAS | 2.02 |
| 399 | Epilepsy, myoclonic juvenile | Enrichment | CACNB4 | 2.01 |
| 400 | Tooth agenesis, selective, 1 | Enrichment | BMPR2 | 2.00 |
| 401 | Charge syndrome | Enrichment | EP300 | 2.00 |
| 402 | Autoinflammatory disease | Enrichment | PRF1, TNFRSF1A | 1.99 |
| 403 | Thyrotoxic periodic paralysis | Enrichment | CACNA1S | 1.98 |
| 404 | Type 1 diabetes mellitus 2 | Enrichment | CAPN10 | 1.98 |
| 405 | Muscular dystrophy, duchenne type | Enrichment | DMD | 1.98 |
| 406 | Lynch syndrome 5 | Enrichment | RYR1 | 1.98 |
| 407 | Muscular dystrophy, limb-girdle, autosomal dominant 4 | Enrichment | CAPN3 | 1.98 |
| 408 | Autosomal recessive limb-girdle muscular dystrophy type 2a | Enrichment | CAPN3 | 1.98 |
| 409 | Bronchopulmonary dysplasia | Enrichment | RYR1 | 1.98 |
| 410 | Ectrodactyly and ectodermal dysplasia without cleft lip/palate | Enrichment | LEF1 | 1.96 |
| 411 | Acrokeratosis verruciformis | Enrichment | ATP2A2 | 1.96 |
| 412 | Mandibuloacral dysplasia with type a lipodystrophy | Enrichment | LMNA | 1.96 |
| 413 | Osteopathia striata with cranial sclerosis | Enrichment | CTNNB1 | 1.96 |
| 414 | Arrhythmogenic right ventricular dysplasia, familial, 8 | Enrichment | DSP | 1.96 |
| 415 | Myopathy, x-linked, with postural muscle atrophy | Enrichment | EMD | 1.96 |
| 416 | Arrhythmogenic right ventricular dysplasia, familial, 11 | Enrichment | DSC2 | 1.96 |
| 417 | Muscular dystrophy, limb-girdle, autosomal recessive 4 | Enrichment | SGCB | 1.96 |
| 418 | Heart-hand syndrome, slovenian type | Enrichment | LMNA | 1.96 |
| 419 | Deafness, autosomal dominant 20 | Enrichment | ACTG1 | 1.96 |
| 420 | Charcot-marie-tooth disease, axonal, type 2b1 | Enrichment | LMNA | 1.96 |
| 421 | Baraitser-winter syndrome 2 | Enrichment | ACTG1 | 1.96 |
| 422 | Cardiomyopathy, dilated, with hypergonadotropic hypogonadism | Enrichment | LMNA | 1.96 |
| 423 | Hallermann-streiff syndrome | Enrichment | GJA1 | 1.96 |
| 424 | Cardiomyopathy, dilated, 1i | Enrichment | DES | 1.96 |
| 425 | Muscular dystrophy, limb-girdle, autosomal recessive 3 | Enrichment | SGCA | 1.96 |
| 426 | Syndactyly, type iii | Enrichment | GJA1 | 1.96 |
| 427 | Syndactyly, type v | Enrichment | GJA1 | 1.96 |
| 428 | Keratosis palmoplantaris striata ii | Enrichment | DSP | 1.96 |
| 429 | Cardiomyopathy, dilated, 1bb | Enrichment | DSG2 | 1.96 |
| 430 | Cardiomyopathy, dilated, 1d | Enrichment | LMNA | 1.96 |
| 431 | Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis | Enrichment | DSP | 1.96 |
| 432 | Restrictive dermopathy 2 | Enrichment | LMNA | 1.96 |
| 433 | Emery-dreifuss muscular dystrophy 3, autosomal recessive | Enrichment | LMNA | 1.96 |
| 434 | Epidermolysis bullosa, junctional 5a, intermediate | Enrichment | ITGB4 | 1.96 |
| 435 | Autosomal recessive limb-girdle muscular dystrophy type 2d | Enrichment | SGCA | 1.96 |
| 436 | Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome | Enrichment | ITGA3 | 1.96 |
| 437 | Childhood hepatocellular carcinoma | Enrichment | CTNNB1 | 1.96 |
| 438 | Craniometaphyseal dysplasia | Enrichment | GJA1 | 1.96 |
| 439 | Split hand-foot malformation | Enrichment | LEF1 | 1.96 |
| 440 | Lipodystrophy, familial partial, type 1 | Enrichment | LMNA | 1.96 |
| 441 | Cardiomyopathy, dilated, with woolly hair and keratoderma | Enrichment | DSP | 1.96 |
| 442 | Juvenile nasopharyngeal angiofibroma | Enrichment | CTNNB1 | 1.96 |
| 443 | Localized junctional epidermolysis bullosa, non-herlitz type | Enrichment | ITGB4 | 1.96 |
| 444 | Familial partial lipodystrophy | Enrichment | LMNA | 1.96 |
| 445 | Qualitative or quantitative defects of beta-sarcoglycan | Enrichment | SGCB | 1.96 |
| 446 | Teratoma | Enrichment | CTNNB1 | 1.96 |
| 447 | Glycoproteinosis | Enrichment | SGCB | 1.96 |
| 448 | Charcot-marie-tooth disease type 2b1 | Enrichment | LMNA | 1.96 |
| 449 | X-linked emery-dreifuss muscular dystrophy | Enrichment | EMD | 1.96 |
| 450 | Myeloproliferative syndrome, transient | Enrichment | GATA1 | 1.94 |
| 451 | Hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome | Enrichment | GATA3 | 1.94 |
| 452 | Porphyria, congenital erythropoietic | Enrichment | GATA1 | 1.94 |
| 453 | Immunodeficiency, common variable, 12, with autoimmunity | Enrichment | NFKB1 | 1.94 |
| 454 | Heterotaxy, visceral, 4, autosomal | Enrichment | ACVR2B | 1.94 |
| 455 | Neutropenia, severe congenital, 8, autosomal dominant | Enrichment | GATA6 | 1.94 |
| 456 | Acute basophilic leukemia | Enrichment | GATA1 | 1.94 |
| 457 | 46,xy sex reversal 3 | Enrichment | GATA4 | 1.94 |
| 458 | Congenital heart defects, multiple types, 2 | Enrichment | TAB2 | 1.94 |
| 459 | B-lymphoblastic leukemia/lymphoma with hyperdiploidy | Enrichment | GATA3 | 1.94 |
| 460 | Hypoparathyroidism-deafness-renal disease syndrome | Enrichment | GATA3 | 1.94 |
| 461 | Familial isolated congenital asplenia | Enrichment | NKX2-5 | 1.94 |
| 462 | Autosomal dominant nonsyndromic deafness | Enrichment | GATA3 | 1.94 |
| 463 | Deletion 5q35 | Enrichment | NKX2-5 | 1.94 |
| 464 | Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome | Enrichment | TAB2 | 1.94 |
| 465 | Common variable immunodeficiency 12 | Enrichment | NFKB1 | 1.94 |
| 466 | Familial colorectal cancer type x | Enrichment | BMPR1A | 1.92 |
| 467 | Lipomatosis, multiple symmetric, with or without axonal peripheral neuropathy | Enrichment | LMNB2 | 1.89 |
| 468 | Chromosome 13q14 deletion syndrome | Enrichment | RB1 | 1.89 |
| 469 | Deafness, autosomal dominant 64 | Enrichment | DIABLO | 1.89 |
| 470 | Immunodeficiency 127 | Enrichment | TNF | 1.89 |
| 471 | Autosomal dominant primary microcephaly | Enrichment | LMNB1 | 1.89 |
| 472 | Intermittent hydrarthrosis | Enrichment | TNFRSF1A | 1.89 |
| 473 | Familial retinoblastoma | Enrichment | RB1 | 1.89 |
| 474 | Oculootodental syndrome | Enrichment | FADD | 1.89 |
| 475 | Autosomal dominant non-syndromic intellectual disability | Enrichment | CACNA1I, CACNG2 | 1.87 |
| 476 | Aland island eye disease | Enrichment | CACNA1F | 1.85 |
| 477 | Chromosome 22q11.2 deletion syndrome, distal | Enrichment | MAPK1 | 1.85 |
| 478 | Carney complex variant | Enrichment | PRKAR1A | 1.85 |
| 479 | Arrhythmogenic right ventricular dysplasia, familial, 10 | Enrichment | PRKAR1A | 1.85 |
| 480 | Congenital generalized lipodystrophy | Enrichment | FOS | 1.85 |
| 481 | Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities | Enrichment | POLR2A | 1.85 |
| 482 | Congenital myopathy 1a, autosomal dominant, with malignant hyperthermia | Enrichment | RYR1 | 1.85 |
| 483 | Myopathy, centronuclear, 2 | Enrichment | RYR1 | 1.85 |
| 484 | Sacral defect with anterior meningocele | Enrichment | RYR1 | 1.85 |
| 485 | Amyotrophy, monomelic | Enrichment | RYR3 | 1.85 |
| 486 | Myasthenic syndrome, congenital, 1b, fast-channel | Enrichment | CHRNA1 | 1.85 |
| 487 | Intellectual developmental disorder, autosomal dominant 26 | Enrichment | RYR1 | 1.85 |
| 488 | Atrial fibrillation | Enrichment | SNTA1 | 1.85 |
| 489 | Congenital myopathy 1a | Enrichment | RYR1 | 1.85 |
| 490 | Idiopathic achalasia | Enrichment | NOS1 | 1.85 |
| 491 | Paroxysmal familial ventricular fibrillation | Enrichment | RYR2 | 1.85 |
| 492 | Spastic ataxia | Enrichment | CACNA1G, CACNB4 | 1.82 |
| 493 | Leukocyte adhesion deficiency, type i | Enrichment | ITGB2 | 1.81 |
| 494 | Scoliosis, isolated 1 | Enrichment | MAPK7 | 1.81 |
| 495 | Costello syndrome | Enrichment | HRAS | 1.81 |
| 496 | Aortic aneurysm, familial thoracic 2 | Enrichment | ACTA2 | 1.81 |
| 497 | Smooth muscle dysfunction syndrome | Enrichment | ACTA2 | 1.81 |
| 498 | Leukocyte adhesion deficiency, type iii | Enrichment | ITGB2 | 1.81 |
| 499 | Encephalocraniocutaneous lipomatosis | Enrichment | KRAS | 1.81 |
| 500 | Aortic aneurysm, familial thoracic 6 | Enrichment | ACTA2 | 1.81 |
| 501 | Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads | Enrichment | CAST | 1.81 |
| 502 | Moyamoya disease 5 | Enrichment | ACTA2 | 1.81 |
| 503 | Multiple endocrine neoplasia, type iv | Enrichment | CDKN1B | 1.81 |
| 504 | Noonan syndrome 12 | Enrichment | RRAS2 | 1.81 |
| 505 | Intestinal obstruction | Enrichment | ACTG2 | 1.81 |
| 506 | Wooly hair nevus | Enrichment | HRAS | 1.81 |
| 507 | Darier-white disease | Enrichment | ATP2A2 | 1.79 |
| 508 | Desmoid disease, hereditary | Enrichment | CTNNB1 | 1.79 |
| 509 | Hyper-ige syndrome 1, autosomal dominant, with recurrent infections | Enrichment | ITGB3 | 1.79 |
| 510 | Myopathy, myofibrillar, 1 | Enrichment | DES | 1.79 |
| 511 | Restrictive dermopathy 1 | Enrichment | LMNA | 1.79 |
| 512 | Muscular dystrophy, congenital merosin-deficient, 1a | Enrichment | LAMA2 | 1.79 |
| 513 | Neurodevelopmental disorder with spastic diplegia and visual defects | Enrichment | CTNNB1 | 1.79 |
| 514 | Lipodystrophy, familial partial, type 2 | Enrichment | LMNA | 1.79 |
| 515 | Muscular dystrophy, congenital, due to integrin alpha-7 deficiency | Enrichment | ITGA7 | 1.79 |
| 516 | Muscular dystrophy, congenital, lmna-related | Enrichment | LMNA | 1.79 |
| 517 | Anus, imperforate | Enrichment | CTNNB1 | 1.79 |
| 518 | Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige | Enrichment | DSP | 1.79 |
| 519 | Exudative vitreoretinopathy 7 | Enrichment | CTNNB1 | 1.79 |
| 520 | Epidermolysis bullosa, junctional 6, with pyloric atresia | Enrichment | ITGA6 | 1.79 |
| 521 | Woolly hair-skin fragility syndrome | Enrichment | DSP | 1.79 |
| 522 | Desmoid tumor | Enrichment | CTNNB1 | 1.79 |
| 523 | Keratosis palmoplantaris striata | Enrichment | DSP | 1.79 |
| 524 | Intrinsic cardiomyopathy | Enrichment | ACTN2 | 1.79 |
| 525 | Restrictive dermopathy | Enrichment | LMNA | 1.79 |
| 526 | Butterfly-shaped pigment dystrophy | Enrichment | CTNNA1 | 1.79 |
| 527 | Bleeding disorder, platelet-type, 24 | Enrichment | ITGB3 | 1.79 |
| 528 | Alopecia - intellectual disability syndrome | Enrichment | ITGB6 | 1.79 |
| 529 | Lama2-related muscular dystrophy | Enrichment | LAMA2 | 1.79 |
| 530 | Polydactyly, postaxial, type a1 | Enrichment | EP300 | 1.78 |
| 531 | Corpus callosum, agenesis of | Enrichment | CREBBP | 1.78 |
| 532 | Isolated corpus callosum agenesis | Enrichment | CREBBP | 1.78 |
| 533 | Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome | Enrichment | CREBBP | 1.78 |
| 534 | Pelvic organ prolapse | Enrichment | TAB2 | 1.77 |
| 535 | Heart defects, congenital, and other congenital anomalies | Enrichment | GATA6 | 1.77 |
| 536 | Breast implant-associated anaplastic large cell lymphoma | Enrichment | STAT3 | 1.77 |
| 537 | Hyper ige syndrome | Enrichment | STAT3 | 1.77 |
| 538 | Frontometaphyseal dysplasia | Enrichment | MAP3K7 | 1.77 |
| 539 | End stage renal disease | Enrichment | GATA3 | 1.77 |
| 540 | Hydrops fetalis, nonimmune | Enrichment | ACTA1, HRAS | 1.76 |
| 541 | Amblyopia | Enrichment | CACNA1F | 1.76 |
| 542 | Histiocytoid hemangioma | Enrichment | FOS | 1.76 |
| 543 | Congenital myopathy 1b, autosomal recessive | Enrichment | RYR1 | 1.76 |
| 544 | Retinoblastoma | Enrichment | RB1 | 1.72 |
| 545 | Mycosis fungoides | Enrichment | TNFRSF1B | 1.72 |
| 546 | Immunodeficiency 98 with autoinflammation, x-linked | Enrichment | FASLG | 1.72 |
| 547 | Niemann-pick disease, type a | Enrichment | SMPD1 | 1.72 |
| 548 | Osteogenic sarcoma | Enrichment | RB1 | 1.72 |
| 549 | Niemann-pick disease, type b | Enrichment | SMPD1 | 1.72 |
| 550 | Woolly hair, autosomal recessive 3 | Enrichment | RB1 | 1.72 |
| 551 | Hypotrichosis 8 | Enrichment | RB1 | 1.72 |
| 552 | Ceroid lipofuscinosis, neuronal, 6a | Enrichment | SMPD1 | 1.72 |
| 553 | Squamous cell carcinoma | Enrichment | RB1 | 1.72 |
| 554 | Migraine without aura | Enrichment | TNF | 1.72 |
| 555 | Bone osteosarcoma | Enrichment | RB1 | 1.72 |
| 556 | Vogt-koyanagi-harada disease | Enrichment | FAS | 1.72 |
| 557 | Saczary syndrome | Enrichment | TNFRSF1B | 1.72 |
| 558 | Charcot-marie-tooth disease | Enrichment | LAMA2, LMNA | 1.68 |
| 559 | Hypokalemic periodic paralysis, type 1 | Enrichment | CACNA1S | 1.68 |
| 560 | Adrenocortical carcinoma | Enrichment | PRKAR1A | 1.68 |
| 561 | Childhood absence epilepsy | Enrichment | CACNA1H | 1.68 |
| 562 | Myopathy, centronuclear, 1 | Enrichment | RYR1 | 1.68 |
| 563 | Muscular dystrophy, limb-girdle, autosomal recessive 1 | Enrichment | CAPN3 | 1.68 |
| 564 | Amelogenesis imperfecta, type iiia | Enrichment | ITGB6 | 1.66 |
| 565 | Hutchinson-gilford progeria syndrome | Enrichment | LMNA | 1.66 |
| 566 | Diffuse gastric and lobular breast cancer syndrome | Enrichment | CTNNA1 | 1.66 |
| 567 | Polyposis syndrome, hereditary mixed, 1 | Enrichment | CTNNA1 | 1.66 |
| 568 | Microtia-anotia | Enrichment | LMNA | 1.66 |
| 569 | Epidermolysis bullosa simplex 5c, with pyloric atresia | Enrichment | ITGB4 | 1.66 |
| 570 | Pilomatrixoma | Enrichment | CTNNB1 | 1.66 |
| 571 | Retinitis pigmentosa 26 | Enrichment | ITGA4 | 1.66 |
| 572 | Aminoacylase 1 deficiency | Enrichment | ACTB | 1.66 |
| 573 | Alazami syndrome | Enrichment | CTNNB1 | 1.66 |
| 574 | Craniopharyngioma | Enrichment | CTNNB1 | 1.66 |
| 575 | Sick sinus syndrome | Enrichment | LMNA | 1.66 |
| 576 | Pseudomyogenic hemangioendothelioma | Enrichment | ACTB | 1.66 |
| 577 | Auditory neuropathy | Enrichment | CACNA1A | 1.64 |
| 578 | Down syndrome | Enrichment | GATA1 | 1.64 |
| 579 | Hemophilia a | Enrichment | ACVRL1 | 1.64 |
| 580 | Factor viii deficiency | Enrichment | ACVRL1 | 1.64 |
| 581 | Hereditary progressive cardiac conduction defect | Enrichment | NKX2-5 | 1.64 |
| 582 | Transposition of the great arteries | Enrichment | GATA4 | 1.64 |
| 583 | Middle aortic syndrome | Enrichment | GATA6 | 1.64 |
| 584 | Hypertrophic cardiomyopathy | Enrichment | ACTN2, PKP2 | 1.64 |
| 585 | Langerhans cell histiocytosis | Enrichment | NRAS | 1.63 |
| 586 | Body mass index quantitative trait locus 12 | Enrichment | CAST | 1.63 |
| 587 | Neonatal nephrocutaneous inflammatory syndrome | Enrichment | EGFR | 1.63 |
| 588 | Proprotein convertase 1/3 deficiency | Enrichment | CAST | 1.63 |
| 589 | Dedifferentiated liposarcoma | Enrichment | CDK4 | 1.63 |
| 590 | Spermatocytoma | Enrichment | HRAS | 1.63 |
| 591 | Neonatal inflammatory skin and bowel disease | Enrichment | EGFR | 1.63 |
| 592 | Well-differentiated liposarcoma | Enrichment | CDK4 | 1.63 |
| 593 | Strabismus | Enrichment | CACNA1A | 1.63 |
| 594 | Myasthenic syndrome, congenital, 1a, slow-channel | Enrichment | CHRNA1 | 1.61 |
| 595 | Small cell cancer of the lung | Enrichment | RB1 | 1.59 |
| 596 | Lynch syndrome 4 | Enrichment | RB1 | 1.59 |
| 597 | Cerebral malaria | Enrichment | TNF | 1.59 |
| 598 | Scoliosis | Enrichment | CREBBP | 1.58 |
| 599 | Autism | Enrichment | CHRNA1, DMD | 1.57 |
| 600 | Epidermolysis bullosa simplex 1c, localized | Enrichment | ITGB4 | 1.57 |
| 601 | Exudative vitreoretinopathy 1 | Enrichment | CTNNB1 | 1.57 |
| 602 | Glanzmann thrombasthenia 2 | Enrichment | ITGB3 | 1.57 |
| 603 | Muscular dystrophy, limb-girdle, autosomal recessive 23 | Enrichment | LAMA2 | 1.57 |
| 604 | Epidermolysis bullosa | Enrichment | ITGA6 | 1.57 |
| 605 | Aplasia cutis congenita | Enrichment | ITGB4 | 1.57 |
| 606 | Cleft upper lip | Enrichment | GJA1 | 1.57 |
| 607 | Coloboma of choroid and retina | Enrichment | ACTG1 | 1.57 |
| 608 | Pancreatic cancer | Enrichment | SMAD4 | 1.56 |
| 609 | Acute megakaryocytic leukemia | Enrichment | GATA1 | 1.55 |
| 610 | Breast cancer | Enrichment | CACNA2D1, JUN | 1.54 |
| 611 | Microcephaly | Enrichment | ACTB, ACTG1, CTNNB1 | 1.53 |
| 612 | Cardiofaciocutaneous syndrome 1 | Enrichment | KRAS | 1.51 |
| 613 | Nemaline myopathy 2 | Enrichment | ACTA1 | 1.51 |
| 614 | Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 | Enrichment | ACTG2 | 1.51 |
| 615 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | Enrichment | CCND2 | 1.51 |
| 616 | Mantle cell lymphoma | Enrichment | CCND1 | 1.51 |
| 617 | Cardiofaciocutaneous syndrome | Enrichment | KRAS | 1.51 |
| 618 | Lung sarcomatoid carcinoma | Enrichment | KRAS | 1.51 |
| 619 | Pilocytic astrocytoma | Enrichment | KRAS | 1.51 |
| 620 | Pregnancy loss, recurrent 1 | Enrichment | CCNB3 | 1.51 |
| 621 | Epidermolytic nevus | Enrichment | HRAS | 1.51 |
| 622 | Primary hyperparathyroidism | Enrichment | CDKN1B | 1.51 |
| 623 | Intermediate nemaline myopathy | Enrichment | ACTA1 | 1.51 |
| 624 | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | Enrichment | CACNA1C | 1.50 |
| 625 | Primary hyperaldosteronism | Enrichment | CACNA1H | 1.50 |
| 626 | Limb-girdle muscular dystrophy | Enrichment | CAPN3 | 1.50 |
| 627 | Lymphoma, mucosa-associated lymphoid type | Enrichment | BIRC3 | 1.50 |
| 628 | Niemann-pick disease, type c1 | Enrichment | SMPD1 | 1.50 |
| 629 | Hemophagocytic lymphohistiocytosis, familial, 1 | Enrichment | PRF1 | 1.50 |
| 630 | Niemann-pick disease | Enrichment | SMPD1 | 1.50 |
| 631 | Vascular dementia | Enrichment | TNF | 1.50 |
| 632 | Autosomal thrombocytopenia with normal platelets | Enrichment | CYCS | 1.50 |
| 633 | Idiopathic aplastic anemia | Enrichment | PRF1 | 1.50 |
| 634 | Emery-dreifuss muscular dystrophy 2, autosomal dominant | Enrichment | LMNA | 1.49 |
| 635 | Weyers acrofacial dysostosis | Enrichment | CTNNB1 | 1.49 |
| 636 | Epidermolysis bullosa, junctional 1a, intermediate | Enrichment | ITGB4 | 1.49 |
| 637 | Split-hand/foot malformation 1 | Enrichment | LEF1 | 1.49 |
| 638 | Junctional epidermolysis bullosa non-herlitz type | Enrichment | ITGB4 | 1.49 |
| 639 | Telangiectasia, hereditary hemorrhagic, type 1 | Enrichment | ACVRL1 | 1.47 |
| 640 | Anterior segment dysgenesis 5 | Enrichment | BMP4 | 1.47 |
| 641 | Double outlet right ventricle | Enrichment | NKX2-5 | 1.47 |
| 642 | Hereditary breast ovarian cancer syndrome | Enrichment | CTNNA1, CTNNA2 | 1.44 |
| 643 | Bethlem myopathy 1a | Enrichment | LMNA | 1.43 |
| 644 | Megacolon | Enrichment | SLC8A1 | 1.43 |
| 645 | Epidermolysis bullosa simplex | Enrichment | ITGB4 | 1.43 |
| 646 | Myofibrillar myopathy | Enrichment | DES | 1.43 |
| 647 | Congenital hydrocephalus | Enrichment | SGCD | 1.43 |
| 648 | Epilepsy, idiopathic generalized | Enrichment | CACNA1H | 1.42 |
| 649 | Specific learning disability | Enrichment | MAPK1 | 1.42 |
| 650 | Pectus excavatum | Enrichment | DMD | 1.42 |
| 651 | Atrial heart septal defect | Enrichment | DMD | 1.42 |
| 652 | Interatrial communication | Enrichment | DMD | 1.42 |
| 653 | Visceral myopathy 1 | Enrichment | ACTG2 | 1.41 |
| 654 | Von hippel-lindau syndrome | Enrichment | CCND1 | 1.41 |
| 655 | Congenital myopathy 3 with rigid spine | Enrichment | ACTA1 | 1.41 |
| 656 | Severe congenital nemaline myopathy | Enrichment | ACTA1 | 1.41 |
| 657 | Leukemia, acute myeloid | Enrichment | KRAS, NRAS | 1.41 |
| 658 | Hypothyroidism, congenital, nongoitrous, 2 | Enrichment | NKX2-5 | 1.40 |
| 659 | Common variable immunodeficiency | Enrichment | NFKB1 | 1.40 |
| 660 | Postsynaptic congenital myasthenic syndromes | Enrichment | CHRNA1 | 1.38 |
| 661 | Erythrokeratodermia variabilis et progressiva 1 | Enrichment | GJA1 | 1.37 |
| 662 | Renal hypodysplasia/aplasia 1 | Enrichment | ITGA8 | 1.37 |
| 663 | Exudative vitreoretinopathy | Enrichment | CTNNB1 | 1.37 |
| 664 | Hypoplastic left heart syndrome | Enrichment | GJA1 | 1.37 |
| 665 | Gastric cancer | Enrichment | CDK4, KRAS | 1.35 |
| 666 | Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly | Enrichment | RYR1 | 1.35 |
| 667 | Clubfoot | Enrichment | RYR1 | 1.35 |
| 668 | Permanent neonatal diabetes mellitus | Enrichment | STAT3 | 1.35 |
| 669 | Cowden syndrome 1 | Enrichment | EGFR | 1.34 |
| 670 | Moyamoya disease 1 | Enrichment | ACTA2 | 1.34 |
| 671 | Intestinal pseudo-obstruction | Enrichment | ACTG2 | 1.34 |
| 672 | Breast adenocarcinoma | Enrichment | KRAS | 1.34 |
| 673 | Typical nemaline myopathy | Enrichment | ACTA1 | 1.34 |
| 674 | Familial thoracic aortic aneurysm and aortic dissection | Enrichment | SMAD4 | 1.32 |
| 675 | Adult hepatocellular carcinoma | Enrichment | CTNNB1 | 1.32 |
| 676 | Renal agenesis, bilateral | Enrichment | ITGA8 | 1.32 |
| 677 | Walker-warburg syndrome | Enrichment | DAG1 | 1.31 |
| 678 | Congenital myasthenic syndrome | Enrichment | CHRNA1 | 1.31 |
| 679 | Myopia | Enrichment | CACNA1F | 1.29 |
| 680 | Cat eye syndrome | Enrichment | ACTG1 | 1.27 |
| 681 | Amelogenesis imperfecta, type ie | Enrichment | ITGB6 | 1.27 |
| 682 | Multiple endocrine neoplasia, type i | Enrichment | CDKN1B | 1.27 |
| 683 | Myelofibrosis | Enrichment | SRC | 1.27 |
| 684 | Squamous cell carcinoma, head and neck | Enrichment | EGFR | 1.27 |
| 685 | Capillary malformation-arteriovenous malformation 1 | Enrichment | KRAS | 1.27 |
| 686 | Pilomyxoid astrocytoma | Enrichment | KRAS | 1.27 |
| 687 | Childhood-onset nemaline myopathy | Enrichment | ACTA1 | 1.27 |
| 688 | Peters-plus syndrome | Enrichment | BMP4 | 1.25 |
| 689 | Ciliary dyskinesia, primary, 3 | Enrichment | NFKB1 | 1.25 |
| 690 | Stickler syndrome | Enrichment | BMP4 | 1.25 |
| 691 | Sudden infant death syndrome | Enrichment | CALM2 | 1.23 |
| 692 | Myeloma, multiple | Enrichment | CREBBP | 1.22 |
| 693 | Myelodysplastic syndrome | Enrichment | GATA2 | 1.21 |
| 694 | Heart, malformation of | Enrichment | MAPK1 | 1.21 |
| 695 | Aplastic anemia | Enrichment | PRF1 | 1.21 |
| 696 | Esophageal atresia/tracheoesophageal fistula | Enrichment | POLR2B | 1.19 |
| 697 | Epicanthus | Enrichment | ACVR1 | 1.17 |
| 698 | Renal hypodysplasia/aplasia 3 | Enrichment | BMP4 | 1.17 |
| 699 | Arteriovenous malformation | Enrichment | HRAS | 1.17 |
| 700 | Asthma | Enrichment | TNF | 1.17 |
| 701 | Neural tube defects | Enrichment | ITGB1 | 1.16 |
| 702 | Diaphragmatic hernia, congenital | Enrichment | GATA6 | 1.14 |
| 703 | Protein-deficiency anemia | Enrichment | GATA1 | 1.14 |
| 704 | Hereditary retinal dystrophy | Enrichment | CACNA1F, CACNA2D4, CTNNA1, ITGA4 | 1.13 |
| 705 | Fundus dystrophy | Enrichment | CACNA1F, CACNA2D4, CTNNA1, ITGA4 | 1.13 |
| 706 | Multiple sclerosis | Enrichment | ITGB4 | 1.13 |
| 707 | Medulloblastoma | Enrichment | CTNNB1 | 1.13 |
| 708 | Isolated macular dystrophy | Enrichment | ITGA4 | 1.13 |
| 709 | Leukemia, chronic lymphocytic | Enrichment | CCND1 | 1.12 |
| 710 | Myopathy, x-linked, with excessive autophagy | Enrichment | HRAS | 1.12 |
| 711 | Nemaline myopathy | Enrichment | ACTA1 | 1.12 |
| 712 | Aortic aneurysm, familial thoracic 1 | Enrichment | GATA4 | 1.11 |
| 713 | Cleft lip/palate | Enrichment | BMP4 | 1.11 |
| 714 | 46,xy partial gonadal dysgenesis | Enrichment | GATA4 | 1.11 |
| 715 | Alzheimer's disease | Enrichment | TNF | 1.10 |
| 716 | Cone dystrophy | Enrichment | CACNA2D4 | 1.09 |
| 717 | Septopreoptic holoprosencephaly | Enrichment | FOXH1 | 1.08 |
| 718 | Midline interhemispheric variant of holoprosencephaly | Enrichment | FOXH1 | 1.08 |
| 719 | Wolff-parkinson-white syndrome | Enrichment | JUP | 1.08 |
| 720 | Microform holoprosencephaly | Enrichment | FOXH1 | 1.05 |
| 721 | Lobar holoprosencephaly | Enrichment | FOXH1 | 1.05 |
| 722 | Interstitial lung disease 2 | Enrichment | DSP | 1.05 |
| 723 | Polycystic liver disease | Enrichment | CTNNB1 | 1.05 |
| 724 | Autosomal dominant polycystic liver disease | Enrichment | CTNNB1 | 1.05 |
| 725 | Congenital nervous system abnormality | Enrichment | CACNA1A | 1.05 |
| 726 | Nervous system disease | Enrichment | CACNA1A | 1.05 |
| 727 | Alobar holoprosencephaly | Enrichment | FOXH1 | 1.03 |
| 728 | Semilobar holoprosencephaly | Enrichment | FOXH1 | 1.01 |
| 729 | Craniosynostosis | Enrichment | CTNNA1 | 0.98 |
| 730 | Osteoporosis | Enrichment | SRC | 0.98 |
| 731 | Lissencephaly | Enrichment | ACTG1 | 0.96 |
| 732 | Hepatoblastoma | Enrichment | CTNNB1 | 0.96 |
| 733 | Lynch syndrome | Enrichment | KRAS | 0.95 |
| 734 | Hepatocellular carcinoma | Enrichment | CTNNB1 | 0.95 |
| 735 | Cardiomyopathy, dilated, 1g | Enrichment | DSP | 0.95 |
| 736 | Myocardial infarction | Enrichment | ITGB3 | 0.95 |
| 737 | Skin disease | Enrichment | ITGB4 | 0.95 |
| 738 | Fanconi anemia, complementation group a | Enrichment | DMD | 0.93 |
| 739 | Rhabdomyosarcoma | Enrichment | HRAS | 0.93 |
| 740 | Gliosarcoma | Enrichment | EGFR | 0.93 |
| 741 | Visceral heterotaxy | Enrichment | ACVR2B | 0.92 |
| 742 | Non-syndromic x-linked intellectual disability | Enrichment | DMD | 0.92 |
| 743 | Fetal akinesia deformation sequence 1 | Enrichment | RYR1 | 0.91 |
| 744 | Diamond-blackfan anemia 1 | Enrichment | GATA1 | 0.91 |
| 745 | Melanoma, cutaneous malignant 1 | Enrichment | CDK4 | 0.90 |
| 746 | Giant cell glioblastoma | Enrichment | EGFR | 0.90 |
| 747 | Malaria | Enrichment | TNF | 0.86 |
| 748 | Distal arthrogryposis | Enrichment | RYR1 | 0.86 |
| 749 | Optic atrophy plus syndrome | Enrichment | CACNA1F | 0.84 |
| 750 | Complex neurodevelopmental disorder | Enrichment | CACNA1C, TCF7L2 | 0.83 |
| 751 | Severe covid-19 | Enrichment | ITGAV | 0.83 |
| 752 | Peripheral nervous system disease | Enrichment | LMNA | 0.79 |
| 753 | Neuropathy | Enrichment | LMNA | 0.79 |
| 754 | Cakut | Enrichment | ACTG1 | 0.77 |
| 755 | Genetic steroid-resistant nephrotic syndrome | Enrichment | ACTN4 | 0.77 |
| 756 | Retinitis pigmentosa | Enrichment | CACNA1F, CACNA2D4 | 0.76 |
| 757 | Non-syndromic genetic deafness | Enrichment | ACTG1 | 0.75 |
| 758 | Diamond-blackfan anemia | Enrichment | GATA1 | 0.73 |
| 759 | Schizophrenia | Enrichment | DMD | 0.72 |
| 760 | Primary ovarian insufficiency | Enrichment | RYR3 | 0.72 |
| 761 | Type 2 diabetes mellitus | Enrichment | TCF7L2 | 0.69 |
| 762 | Nonsyndromic hearing loss | Enrichment | ACTG1 | 0.69 |
| 763 | Nephrotic syndrome | Enrichment | ITGA3 | 0.68 |
| 764 | Systemic lupus erythematosus | Enrichment | TNF | 0.65 |
| 765 | Primary autosomal recessive microcephaly | Enrichment | CDK6 | 0.65 |
| 766 | Connective tissue disease | Enrichment | ACTA2 | 0.65 |
| 767 | Primary ciliary dyskinesia | Enrichment | PRKAR1B | 0.63 |
| 768 | Rare autosomal dominant non-syndromic sensorineural deafness type dfna | Enrichment | ACTG1 | 0.61 |
| 769 | Male infertility with azoospermia or oligozoospermia due to single gene mutation | Enrichment | GATA4 | 0.56 |
| 770 | Hereditary breast carcinoma | Enrichment | KRAS | 0.53 |
| 771 | Autosomal recessive non-syndromic intellectual disability | Enrichment | CRADD | 0.51 |
| 772 | Body mass index quantitative trait locus 11 | Enrichment | CAST | 0.49 |
| 773 | Rare genetic deafness | Enrichment | ACTG1 | 0.45 |
| 774 | Rare autosomal recessive non-syndromic sensorineural deafness type dfnb | Enrichment | GJA1 | 0.41 |