| 1 | Autoimmune lymphoproliferative syndrome | Enrichment | CASP10, FAS, FASLG | 7.24 |
| 2 | Baraitser-winter cerebrofrontofacial syndrome | Enrichment | ACTB, ACTG1 | 5.03 |
| 3 | Neuromuscular disease | Enrichment | ACTA1, LMNA, SPTAN1 | 4.66 |
| 4 | Insulin-like growth factor i | Enrichment | IGF1, IGF1R | 4.22 |
| 5 | Lung cancer | Enrichment | CASP8, FAS, FASLG | 4.17 |
| 6 | Autoinflammatory disease | Enrichment | PRF1, TNFRSF1A, XIAP | 3.97 |
| 7 | Typical nemaline myopathy | Enrichment | ACTA1, CFL2 | 3.65 |
| 8 | Lymphoma, non-hodgkin, familial | Enrichment | CASP10, PRF1 | 3.38 |
| 9 | Behcet syndrome | Enrichment | FAS, TNFRSF1A | 2.99 |
| 10 | Alzheimer's disease | Enrichment | APP, TNF | 2.94 |
| 11 | Noonan syndrome and noonan-related syndrome | Enrichment | MAP2K1, RAF1 | 2.83 |
| 12 | Malaria | Enrichment | MAPKAPK3, TNF | 2.64 |
| 13 | Periodic fever, familial, autosomal dominant | Enrichment | TNFRSF1A | 2.60 |
| 14 | Leukodystrophy, demyelinating, adult-onset, autosomal dominant, typical | Enrichment | LMNB1 | 2.60 |
| 15 | Proteus syndrome | Enrichment | AKT1 | 2.60 |
| 16 | Hypoinsulinemic hypoglycemia with hemihypertrophy | Enrichment | AKT2 | 2.60 |
| 17 | Lymphoproliferative syndrome, x-linked, 2 | Enrichment | XIAP | 2.60 |
| 18 | Caspase 8 deficiency | Enrichment | CASP8 | 2.60 |
| 19 | Adult onset demyelinating leukodystrophy | Enrichment | LMNB1 | 2.60 |
| 20 | Epilepsy, progressive myoclonic, 9 | Enrichment | LMNB2 | 2.60 |
| 21 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | Enrichment | AKT3 | 2.60 |
| 22 | Thrombocytopenia 4 | Enrichment | CYCS | 2.60 |
| 23 | Autoimmune lymphoproliferative syndrome, type iia | Enrichment | CASP10 | 2.60 |
| 24 | Lipodystrophy, partial, acquired | Enrichment | LMNB2 | 2.60 |
| 25 | Intellectual developmental disorder, autosomal recessive 34, with variant lissencephaly | Enrichment | CRADD | 2.60 |
| 26 | Multiple sclerosis 5 | Enrichment | TNFRSF1A | 2.60 |
| 27 | Immunodeficiency 90 with encephalopathy, functional hyposplenia, and hepatic dysfunction | Enrichment | FADD | 2.60 |
| 28 | Cowden syndrome 6 | Enrichment | AKT1 | 2.60 |
| 29 | Microcephaly 26, primary, autosomal dominant | Enrichment | LMNB1 | 2.60 |
| 30 | Tnf receptor-associated periodic fever syndrome | Enrichment | TNFRSF1A | 2.60 |
| 31 | Atypical werner syndrome | Enrichment | LMNA | 2.60 |
| 32 | Autoinflammation with episodic fever and lymphadenopathy | Enrichment | RIPK1 | 2.60 |
| 33 | Microcephaly 27, primary, autosomal dominant | Enrichment | LMNB2 | 2.60 |
| 34 | Intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly | Enrichment | CASP2 | 2.60 |
| 35 | Mandibuloacral dysplasia | Enrichment | LMNA | 2.60 |
| 36 | Atrioventricular block | Enrichment | LMNA | 2.60 |
| 37 | Capillary hemangioma | Enrichment | AKT3 | 2.60 |
| 38 | Lmna-related cardiocutaneous progeria syndrome | Enrichment | LMNA | 2.60 |
| 39 | Autosomal semi-dominant severe lipodystrophic laminopathy | Enrichment | LMNA | 2.60 |
| 40 | Autosomal recessive axonal hereditary motor and sensory neuropathy | Enrichment | LMNA | 2.60 |
| 41 | Akt2-related familial partial lipodystrophy | Enrichment | AKT2 | 2.60 |
| 42 | Laminopathy | Enrichment | LMNA | 2.60 |
| 43 | Centronuclear myopathy | Enrichment | ACTA1, CFL2 | 2.52 |
| 44 | Cardiospondylocarpofacial syndrome | Enrichment | MAP3K7 | 2.51 |
| 45 | Baraitser-winter syndrome 1 | Enrichment | ACTB | 2.51 |
| 46 | Congenital myopathy 2a, typical, autosomal dominant | Enrichment | ACTA1 | 2.51 |
| 47 | Developmental and epileptic encephalopathy 5 | Enrichment | SPTAN1 | 2.51 |
| 48 | Myopathy, scapulohumeroperoneal | Enrichment | ACTA1 | 2.51 |
| 49 | 46,xy sex reversal 6 | Enrichment | MAP3K1 | 2.51 |
| 50 | Frontometaphyseal dysplasia 2 | Enrichment | MAP3K7 | 2.51 |
| 51 | Knobloch syndrome 2 | Enrichment | PAK2 | 2.51 |
| 52 | Intellectual developmental disorder with macrocephaly, seizures, and speech delay | Enrichment | PAK1 | 2.51 |
| 53 | Congenital smooth muscle hamartoma, with or without hemihypertrophy | Enrichment | ACTB | 2.51 |
| 54 | Charcot-marie-tooth disease, axonal, type 2f | Enrichment | HSPB1 | 2.51 |
| 55 | Becker nevus syndrome | Enrichment | ACTB | 2.51 |
| 56 | Dystonia-deafness syndrome 1 | Enrichment | ACTB | 2.51 |
| 57 | Congenital myopathy 2b, severe infantile, autosomal recessive | Enrichment | ACTA1 | 2.51 |
| 58 | Immunodeficiency 26 with or without neurologic abnormalities | Enrichment | PRKDC | 2.51 |
| 59 | Macular dystrophy, patterned, 3 | Enrichment | MAPKAPK3 | 2.51 |
| 60 | Congenital myopathy 2c, severe infantile, autosomal dominant | Enrichment | ACTA1 | 2.51 |
| 61 | Thrombocytopenia 8, with dysmorphic features and developmental delay | Enrichment | ACTB | 2.51 |
| 62 | Trilateral retinoblastoma | Enrichment | RB1 | 2.51 |
| 63 | Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia | Enrichment | SPTAN1 | 2.51 |
| 64 | Developmental delay with or without epilepsy | Enrichment | SPTAN1 | 2.51 |
| 65 | Baraitser-winter syndrome | Enrichment | ACTB | 2.51 |
| 66 | Neuronopathy, distal hereditary motor, autosomal dominant 11 | Enrichment | SPTAN1 | 2.51 |
| 67 | Zebra body myopathy | Enrichment | ACTA1 | 2.51 |
| 68 | Congenital smooth muscle hamartoma | Enrichment | ACTB | 2.51 |
| 69 | Developmental malformations-deafness-dystonia syndrome | Enrichment | ACTB | 2.51 |
| 70 | Actin-accumulation myopathy | Enrichment | ACTA1 | 2.51 |
| 71 | Lung oat cell carcinoma | Enrichment | RB1 | 2.51 |
| 72 | Parkinson disease 13, autosomal dominant | Enrichment | HTRA2 | 2.49 |
| 73 | Orofacial cleft 10 | Enrichment | SUMO1 | 2.49 |
| 74 | Noonan syndrome 1 | Enrichment | MAP2K1, RAF1 | 2.46 |
| 75 | Cardiomyopathy, familial hypertrophic, 1 | Enrichment | LMNA, RAF1 | 2.42 |
| 76 | Incontinentia pigmenti | Enrichment | IKBKG | 2.42 |
| 77 | Autoinflammatory disease, systemic, x-linked | Enrichment | IKBKG | 2.42 |
| 78 | Noonan syndrome 5 | Enrichment | RAF1 | 2.42 |
| 79 | Melorheostosis, isolated | Enrichment | MAP2K1 | 2.42 |
| 80 | Cardiomyopathy, dilated, 1nn | Enrichment | RAF1 | 2.42 |
| 81 | Cardiofaciocutaneous syndrome 3 | Enrichment | MAP2K1 | 2.42 |
| 82 | Fetal encasement syndrome | Enrichment | CHUK | 2.42 |
| 83 | Immunodeficiency 15b | Enrichment | IKBKB | 2.42 |
| 84 | Immunodeficiency 15a | Enrichment | IKBKB | 2.42 |
| 85 | Ectodermal dysplasia and immunodeficiency 1 | Enrichment | IKBKG | 2.42 |
| 86 | Isolated growth hormone deficiency type iii | Enrichment | BTK | 2.42 |
| 87 | Melorheostosis | Enrichment | MAP2K1 | 2.42 |
| 88 | Leopard syndrome 2 | Enrichment | RAF1 | 2.42 |
| 89 | Acid sphingomyelinase deficiency | Enrichment | SMPD1 | 2.42 |
| 90 | Bartsocas-papas syndrome 2 | Enrichment | CHUK | 2.42 |
| 91 | Trigonitis | Enrichment | RAF1 | 2.42 |
| 92 | Immunodeficiency 112 | Enrichment | MAP3K14 | 2.42 |
| 93 | Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to ikbka deficiency | Enrichment | CHUK | 2.42 |
| 94 | Nik deficiency | Enrichment | MAP3K14 | 2.42 |
| 95 | Hemophagocytic lymphohistiocytosis, familial, 2 | Enrichment | PRF1 | 2.41 |
| 96 | Amyloidosis, finnish type | Enrichment | GSN | 2.41 |
| 97 | Mucoepithelial dysplasia, hereditary | Enrichment | SREBF1 | 2.41 |
| 98 | Developmental delay with dysmorphic facies and dental anomalies | Enrichment | SATB1 | 2.41 |
| 99 | Deafness, autosomal recessive 125 | Enrichment | GAS2 | 2.41 |
| 100 | Deeah syndrome | Enrichment | MADD | 2.41 |
| 101 | Ifap syndrome 2 | Enrichment | SREBF1 | 2.41 |
| 102 | Nemaline myopathy 7 | Enrichment | CFL2 | 2.41 |
| 103 | Cerebral amyloid angiopathy, app-related | Enrichment | APP | 2.41 |
| 104 | Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia | Enrichment | MADD | 2.41 |
| 105 | Den hoed-de boer-voisin syndrome | Enrichment | SATB1 | 2.41 |
| 106 | Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly | Enrichment | PIDD1 | 2.41 |
| 107 | Premature aging | Enrichment | VIM | 2.41 |
| 108 | Fatal post-viral neurodegenerative disorder | Enrichment | PRF1 | 2.41 |
| 109 | Intellectual disability-acpilepsy-dental anomalies-facial dysmorphism syndrome | Enrichment | SATB1 | 2.41 |
| 110 | Rasopathy | Enrichment | MAP2K1, RAF1 | 2.35 |
| 111 | Type 2 diabetes mellitus | Enrichment | AKT2, IRS1 | 2.31 |
| 112 | Mandibuloacral dysplasia with type a lipodystrophy | Enrichment | LMNA | 2.30 |
| 113 | Lipomatosis, multiple symmetric, with or without axonal peripheral neuropathy | Enrichment | LMNB2 | 2.30 |
| 114 | Heart-hand syndrome, slovenian type | Enrichment | LMNA | 2.30 |
| 115 | Charcot-marie-tooth disease, axonal, type 2b1 | Enrichment | LMNA | 2.30 |
| 116 | Cardiomyopathy, dilated, with hypergonadotropic hypogonadism | Enrichment | LMNA | 2.30 |
| 117 | Cardiomyopathy, dilated, 1d | Enrichment | LMNA | 2.30 |
| 118 | Restrictive dermopathy 2 | Enrichment | LMNA | 2.30 |
| 119 | Emery-dreifuss muscular dystrophy 3, autosomal recessive | Enrichment | LMNA | 2.30 |
| 120 | Immunodeficiency 127 | Enrichment | TNF | 2.30 |
| 121 | Senior-loken syndrome 7 | Enrichment | AKT3 | 2.30 |
| 122 | Lipodystrophy, familial partial, type 1 | Enrichment | LMNA | 2.30 |
| 123 | Autosomal dominant primary microcephaly | Enrichment | LMNB1 | 2.30 |
| 124 | Bardet-biedl syndrome 16 | Enrichment | AKT3 | 2.30 |
| 125 | Immunodeficiency 57 with autoinflammation | Enrichment | RIPK1 | 2.30 |
| 126 | Intermittent hydrarthrosis | Enrichment | TNFRSF1A | 2.30 |
| 127 | Familial partial lipodystrophy | Enrichment | LMNA | 2.30 |
| 128 | Growth delay due to insulin-like growth factor type 1 deficiency | Enrichment | IGF1 | 2.30 |
| 129 | Charcot-marie-tooth disease type 2b1 | Enrichment | LMNA | 2.30 |
| 130 | Oculootodental syndrome | Enrichment | FADD | 2.30 |
| 131 | Intellectual developmental disorder, x-linked, syndromic, raymond type | Enrichment | SPTAN1 | 2.21 |
| 132 | Deafness, autosomal dominant 20 | Enrichment | ACTG1 | 2.21 |
| 133 | Neuronopathy, distal hereditary motor, autosomal dominant 3 | Enrichment | HSPB1 | 2.21 |
| 134 | Baraitser-winter syndrome 2 | Enrichment | ACTG1 | 2.21 |
| 135 | Chromosome 13q14 deletion syndrome | Enrichment | RB1 | 2.21 |
| 136 | Intravascular large b-cell lymphoma | Enrichment | BCL2 | 2.21 |
| 137 | Familial retinoblastoma | Enrichment | RB1 | 2.21 |
| 138 | Deafness, autosomal dominant 64 | Enrichment | DIABLO | 2.19 |
| 139 | Charcot-marie-tooth disease | Enrichment | HSPB1, LMNA | 2.15 |
| 140 | Immunodeficiency 98 with autoinflammation, x-linked | Enrichment | FASLG | 2.12 |
| 141 | Restrictive dermopathy 1 | Enrichment | LMNA | 2.12 |
| 142 | Psoriatic arthritis | Enrichment | TNF | 2.12 |
| 143 | Lipodystrophy, familial partial, type 2 | Enrichment | LMNA | 2.12 |
| 144 | Muscular dystrophy, congenital, lmna-related | Enrichment | LMNA | 2.12 |
| 145 | T-cell acute lymphoblastic leukemia | Enrichment | BAX | 2.12 |
| 146 | Migraine without aura | Enrichment | TNF | 2.12 |
| 147 | Restrictive dermopathy | Enrichment | LMNA | 2.12 |
| 148 | Growth delay due to insulin-like growth factor i resistance | Enrichment | IGF1R | 2.12 |
| 149 | Vogt-koyanagi-harada disease | Enrichment | FAS | 2.12 |
| 150 | Immunodeficiency 33 | Enrichment | IKBKG | 2.12 |
| 151 | Isolated growth hormone deficiency, type iii, with agammaglobulinemia | Enrichment | BTK | 2.12 |
| 152 | Immunodeficiency, common variable, 12, with autoimmunity | Enrichment | NFKB1 | 2.12 |
| 153 | Agammaglobulinemia, x-linked | Enrichment | BTK | 2.12 |
| 154 | Ectodermal dysplasia and immune deficiency | Enrichment | IKBKG | 2.12 |
| 155 | Glucosephosphate dehydrogenase deficiency | Enrichment | IKBKG | 2.12 |
| 156 | Common variable immunodeficiency 12 | Enrichment | NFKB1 | 2.12 |
| 157 | Cerebral amyloid angiopathy, cst3-related | Enrichment | APP | 2.11 |
| 158 | Hyperaldosteronism, familial, type ii | Enrichment | SATB1 | 2.11 |
| 159 | Cataract 30 | Enrichment | VIM | 2.11 |
| 160 | Esotropia | Enrichment | TFAP2A | 2.11 |
| 161 | Lens subluxation | Enrichment | TFAP2A | 2.11 |
| 162 | Left ventricular noncompaction | Enrichment | LMNA, RAF1 | 2.10 |
| 163 | Retinoblastoma | Enrichment | RB1 | 2.03 |
| 164 | Osteogenic sarcoma | Enrichment | RB1 | 2.03 |
| 165 | Woolly hair, autosomal recessive 3 | Enrichment | RB1 | 2.03 |
| 166 | Short-rib thoracic dysplasia 11 with or without polydactyly | Enrichment | SPTAN1 | 2.03 |
| 167 | Hypotrichosis 8 | Enrichment | RB1 | 2.03 |
| 168 | Bacteremia 2 | Enrichment | MAPKAPK3 | 2.03 |
| 169 | High-grade b-cell lymphoma double-hit/triple-hit | Enrichment | BCL2 | 2.03 |
| 170 | Frontometaphyseal dysplasia | Enrichment | MAP3K7 | 2.03 |
| 171 | Squamous cell carcinoma | Enrichment | RB1 | 2.03 |
| 172 | Bone osteosarcoma | Enrichment | RB1 | 2.03 |
| 173 | Hutchinson-gilford progeria syndrome | Enrichment | LMNA | 2.00 |
| 174 | Emery-dreifuss muscular dystrophy 1, x-linked | Enrichment | LMNA | 2.00 |
| 175 | Microtia-anotia | Enrichment | LMNA | 2.00 |
| 176 | Megalencephaly-capillary malformation-polymicrogyria syndrome | Enrichment | AKT3 | 2.00 |
| 177 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | Enrichment | AKT3 | 2.00 |
| 178 | Lymphoproliferative syndrome 2 | Enrichment | XIAP | 2.00 |
| 179 | Emery-dreifuss muscular dystrophy | Enrichment | LMNA | 2.00 |
| 180 | Sick sinus syndrome | Enrichment | LMNA | 2.00 |
| 181 | Cerebral malaria | Enrichment | TNF | 2.00 |
| 182 | Niemann-pick disease, type a | Enrichment | SMPD1 | 1.94 |
| 183 | Agammaglobulinemia 1, autosomal recessive | Enrichment | BTK | 1.94 |
| 184 | Langerhans cell histiocytosis | Enrichment | MAP2K1 | 1.94 |
| 185 | Niemann-pick disease, type b | Enrichment | SMPD1 | 1.94 |
| 186 | Agammaglobulinemia 1 | Enrichment | BTK | 1.94 |
| 187 | Ceroid lipofuscinosis, neuronal, 6a | Enrichment | SMPD1 | 1.94 |
| 188 | Ifap syndrome 1, with or without bresheck syndrome | Enrichment | SREBF1 | 1.93 |
| 189 | Laryngeal squamous cell carcinoma | Enrichment | TNFRSF10B | 1.93 |
| 190 | Cryptogenic cirrhosis | Enrichment | KRT18 | 1.93 |
| 191 | Small cell cancer of the lung | Enrichment | RB1 | 1.91 |
| 192 | Nemaline myopathy 2 | Enrichment | ACTA1 | 1.91 |
| 193 | Aminoacylase 1 deficiency | Enrichment | ACTB | 1.91 |
| 194 | Lynch syndrome 4 | Enrichment | RB1 | 1.91 |
| 195 | Tuberculosis | Enrichment | MAPKAPK3 | 1.91 |
| 196 | Charcot-marie-tooth hereditary neuropathy | Enrichment | SPTAN1 | 1.91 |
| 197 | Knobloch syndrome | Enrichment | PAK2 | 1.91 |
| 198 | Intermediate nemaline myopathy | Enrichment | ACTA1 | 1.91 |
| 199 | Pseudomyogenic hemangioendothelioma | Enrichment | ACTB | 1.91 |
| 200 | Autosomal recessive limb-girdle muscular dystrophy type 2b | Enrichment | LMNA | 1.90 |
| 201 | Histiocytoid hemangioma | Enrichment | LMNA | 1.90 |
| 202 | Vascular dementia | Enrichment | TNF | 1.90 |
| 203 | Autosomal thrombocytopenia with normal platelets | Enrichment | CYCS | 1.90 |
| 204 | Hemimegalencephaly | Enrichment | AKT3 | 1.90 |
| 205 | 3-methylglutaconic aciduria, type viii | Enrichment | HTRA2 | 1.89 |
| 206 | Emery-dreifuss muscular dystrophy 2, autosomal dominant | Enrichment | LMNA | 1.83 |
| 207 | Inflammatory bowel disease 25, autosomal recessive | Enrichment | RIPK1 | 1.83 |
| 208 | Il10-related early-onset inflammatory bowel disease | Enrichment | RIPK1 | 1.83 |
| 209 | Breast adenocarcinoma | Enrichment | AKT1 | 1.83 |
| 210 | Breast cancer | Enrichment | AKT1, CASP8 | 1.82 |
| 211 | Cardiofaciocutaneous syndrome 1 | Enrichment | MAP2K1 | 1.82 |
| 212 | Cardiofaciocutaneous syndrome | Enrichment | MAP2K1 | 1.82 |
| 213 | Noonan syndrome with multiple lentigines | Enrichment | RAF1 | 1.82 |
| 214 | Neuronopathy, distal hereditary motor, autosomal dominant 2 | Enrichment | HSPB1 | 1.81 |
| 215 | Congenital myopathy 3 with rigid spine | Enrichment | ACTA1 | 1.81 |
| 216 | Knobloch syndrome 1 | Enrichment | PAK2 | 1.81 |
| 217 | Follicular lymphoma | Enrichment | BCL2 | 1.81 |
| 218 | Coloboma of choroid and retina | Enrichment | ACTG1 | 1.81 |
| 219 | Severe congenital nemaline myopathy | Enrichment | ACTA1 | 1.81 |
| 220 | Branchiooculofacial syndrome | Enrichment | TFAP2A | 1.81 |
| 221 | Bethlem myopathy 1a | Enrichment | LMNA | 1.76 |
| 222 | Megacolon | Enrichment | AKT3 | 1.76 |
| 223 | Familial isolated dilated cardiomyopathy | Enrichment | LMNA, RAF1 | 1.76 |
| 224 | Lymphoma, mucosa-associated lymphoid type | Enrichment | BIRC3 | 1.72 |
| 225 | Niemann-pick disease, type c1 | Enrichment | SMPD1 | 1.72 |
| 226 | Anemia, congenital, nonspherocytic hemolytic, 1 | Enrichment | IKBKG | 1.72 |
| 227 | Niemann-pick disease | Enrichment | SMPD1 | 1.72 |
| 228 | Hemophagocytic lymphohistiocytosis, familial, 1 | Enrichment | PRF1 | 1.71 |
| 229 | Amblyopia | Enrichment | TFAP2A | 1.71 |
| 230 | Multiple acyl-coa dehydrogenase deficiency, severe neonatal type | Enrichment | MADD | 1.71 |
| 231 | Idiopathic aplastic anemia | Enrichment | PRF1 | 1.71 |
| 232 | Congenital muscular dystrophy | Enrichment | LMNA | 1.70 |
| 233 | Myocarditis | Enrichment | LMNA | 1.70 |
| 234 | Colorectal cancer | Enrichment | AKT1, BAX | 1.70 |
| 235 | Focal epilepsy | Enrichment | SPTAN1 | 1.67 |
| 236 | Childhood-onset nemaline myopathy | Enrichment | ACTA1 | 1.67 |
| 237 | Charge syndrome | Enrichment | TNFRSF1A | 1.65 |
| 238 | Arrhythmogenic right ventricular dysplasia, familial, 9 | Enrichment | LMNA | 1.65 |
| 239 | Adult hepatocellular carcinoma | Enrichment | CASP8 | 1.65 |
| 240 | Cowden syndrome | Enrichment | AKT1 | 1.65 |
| 241 | Familial isolated arrhythmogenic right ventricular dysplasia | Enrichment | CRADD | 1.65 |
| 242 | Branchiootorenal syndrome 1 | Enrichment | TFAP2A | 1.63 |
| 243 | Polymicrogyria | Enrichment | AKT3 | 1.61 |
| 244 | Dilated cardiomyopathy | Enrichment | ACTA1, LMNA | 1.60 |
| 245 | Lennox-gastaut syndrome | Enrichment | MAPK10 | 1.59 |
| 246 | Capillary malformation-arteriovenous malformation 1 | Enrichment | MAP2K1 | 1.58 |
| 247 | Noonan syndrome 3 | Enrichment | RAF1 | 1.58 |
| 248 | Pilomyxoid astrocytoma | Enrichment | RAF1 | 1.58 |
| 249 | Common variable immunodeficiency | Enrichment | NFKB1 | 1.58 |
| 250 | Squamous cell carcinoma, head and neck | Enrichment | TNFRSF10B | 1.57 |
| 251 | Alzheimer's disease 1 | Enrichment | APP | 1.57 |
| 252 | Branchiootorenal syndrome | Enrichment | TFAP2A | 1.57 |
| 253 | Early-onset autosomal dominant alzheimer disease | Enrichment | APP | 1.57 |
| 254 | Immune deficiency disease | Enrichment | RIPK1 | 1.56 |
| 255 | Asthma | Enrichment | TNF | 1.56 |
| 256 | Cardiac conduction defect | Enrichment | LMNA | 1.53 |
| 257 | Muscular dystrophy, limb-girdle, autosomal recessive 2 | Enrichment | LMNA | 1.53 |
| 258 | Meningioma | Enrichment | AKT1 | 1.53 |
| 259 | Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant | Enrichment | LMNA | 1.53 |
| 260 | Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant | Enrichment | LMNA | 1.53 |
| 261 | Melanocytic nevus syndrome, congenital | Enrichment | RAF1 | 1.52 |
| 262 | Cat eye syndrome | Enrichment | ACTG1 | 1.52 |
| 263 | Nemaline myopathy | Enrichment | ACTA1 | 1.52 |
| 264 | Acute promyelocytic leukemia | Enrichment | NUMA1 | 1.49 |
| 265 | Nk-cell enteropathy | Enrichment | IGF1R | 1.49 |
| 266 | 46,xy complete gonadal dysgenesis | Enrichment | MAP3K1 | 1.47 |
| 267 | Coronary heart disease 5 | Enrichment | IKBKG | 1.47 |
| 268 | Arteriovenous malformation | Enrichment | MAP2K1 | 1.47 |
| 269 | Multiple sclerosis | Enrichment | TNFRSF1A | 1.46 |
| 270 | Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant | Enrichment | LMNA | 1.46 |
| 271 | Lip and oral cavity carcinoma | Enrichment | RB1 | 1.44 |
| 272 | Myopathy, x-linked, with excessive autophagy | Enrichment | MAP2K1 | 1.42 |
| 273 | Ciliary dyskinesia, primary, 3 | Enrichment | NFKB1 | 1.42 |
| 274 | Early-onset parkinson's disease | Enrichment | HTRA2 | 1.42 |
| 275 | Cataract 30, multiple types | Enrichment | VIM | 1.42 |
| 276 | Aplastic anemia | Enrichment | PRF1 | 1.42 |
| 277 | Ovarian cancer | Enrichment | MAP3K1, RB1 | 1.41 |
| 278 | Arrhythmogenic right ventricular cardiomyopathy | Enrichment | LMNA | 1.40 |
| 279 | Lung non-small cell carcinoma | Enrichment | MAP2K1 | 1.38 |
| 280 | Cardiomyopathy, dilated, 1e | Enrichment | LMNA | 1.38 |
| 281 | Lung cancer susceptibility 3 | Enrichment | RB1 | 1.37 |
| 282 | 46,xy partial gonadal dysgenesis | Enrichment | MAP3K1 | 1.37 |
| 283 | Congenital myopathy 4a, autosomal dominant | Enrichment | ACTA1 | 1.34 |
| 284 | Epicanthus | Enrichment | TFAP2A | 1.34 |
| 285 | Neuropathy, hereditary motor and sensory, okinawa type | Enrichment | LMNA | 1.33 |
| 286 | Cardiomyopathy, dilated, 1a | Enrichment | LMNA | 1.29 |
| 287 | Hepatocellular carcinoma | Enrichment | CASP8 | 1.27 |
| 288 | Microcephaly | Enrichment | ACTB, ACTG1 | 1.26 |
| 289 | Congenital myopathy | Enrichment | ACTA1 | 1.24 |
| 290 | Muscular dystrophy | Enrichment | LMNA | 1.23 |
| 291 | Lissencephaly | Enrichment | ACTG1 | 1.20 |
| 292 | Brugada syndrome | Enrichment | LMNA | 1.20 |
| 293 | Alzheimer disease, familial, 1 | Enrichment | APP | 1.19 |
| 294 | Tooth agenesis | Enrichment | SUMO1 | 1.16 |
| 295 | Severe covid-19 | Enrichment | CASP10 | 1.15 |
| 296 | Diffuse large b-cell lymphoma | Enrichment | BTK | 1.15 |
| 297 | Jeune thoracic dystrophy | Enrichment | SPTAN1 | 1.13 |
| 298 | Long qt syndrome | Enrichment | LMNA | 1.13 |
| 299 | Williams-beuren syndrome | Enrichment | LIMK1 | 1.12 |
| 300 | Peripheral nervous system disease | Enrichment | LMNA | 1.11 |
| 301 | Neuropathy | Enrichment | LMNA | 1.11 |
| 302 | Hydrops fetalis, nonimmune | Enrichment | ACTA1 | 1.11 |
| 303 | Microphthalmia | Enrichment | TFAP2A | 1.08 |
| 304 | Asphyxiating thoracic dystrophy | Enrichment | SPTAN1 | 1.08 |
| 305 | Bladder cancer | Enrichment | RB1 | 1.07 |
| 306 | Non-immune hydrops fetalis | Enrichment | ACTA1 | 1.04 |
| 307 | Systemic lupus erythematosus | Enrichment | TNF | 1.03 |
| 308 | Short-rib thoracic dysplasia 1 with or without polydactyly | Enrichment | SPTAN1 | 1.01 |
| 309 | Cakut | Enrichment | ACTG1 | 1.00 |
| 310 | Gastric cancer | Enrichment | CASP10 | 0.99 |
| 311 | Hereditary breast carcinoma | Enrichment | AKT1 | 0.98 |
| 312 | Developmental and epileptic encephalopathy | Enrichment | SPTAN1 | 0.98 |
| 313 | Non-syndromic genetic deafness | Enrichment | ACTG1 | 0.98 |
| 314 | Hirschsprung disease 1 | Enrichment | SREBF1 | 0.97 |
| 315 | Fetal akinesia deformation sequence 1 | Enrichment | ACTA1 | 0.96 |
| 316 | Thrombocytopenia | Enrichment | CYCS | 0.94 |
| 317 | Myopathy | Enrichment | ACTA1 | 0.93 |
| 318 | Familial hypertrophic cardiomyopathy | Enrichment | RAF1 | 0.92 |
| 319 | Severe combined immunodeficiency | Enrichment | IKBKB | 0.92 |
| 320 | Benign epilepsy with centrotemporal spikes | Enrichment | SPTAN1 | 0.92 |
| 321 | Distal arthrogryposis | Enrichment | ACTA1 | 0.91 |
| 322 | Hereditary spastic paraplegia | Enrichment | SPTAN1 | 0.91 |
| 323 | Nonsyndromic hearing loss | Enrichment | ACTG1 | 0.91 |
| 324 | Centralopathic epilepsy | Enrichment | SPTAN1 | 0.90 |
| 325 | West syndrome | Enrichment | SPTAN1 | 0.89 |
| 326 | Hereditary breast ovarian cancer syndrome | Enrichment | RIPK1 | 0.89 |
| 327 | Autosomal recessive non-syndromic intellectual disability | Enrichment | CRADD | 0.87 |
| 328 | Rare autosomal dominant non-syndromic sensorineural deafness type dfna | Enrichment | ACTG1 | 0.83 |
| 329 | Spastic ataxia | Enrichment | SPTAN1 | 0.82 |
| 330 | Hypertelorism | Enrichment | TFAP2A | 0.73 |
| 331 | Undetermined early-onset epileptic encephalopathy | Enrichment | LIMK1 | 0.71 |
| 332 | Rare genetic deafness | Enrichment | ACTG1 | 0.66 |
| 333 | Inherited cancer-predisposing syndrome | Enrichment | RB1 | 0.47 |
| 334 | Autism spectrum disorder | Enrichment | MAP2K1 | 0.46 |
| 335 | Complex neurodevelopmental disorder | Enrichment | MADD | 0.41 |