| 1 | Noonan syndrome 1 | Enrichment | HRAS, KRAS, MAP2K1, MAP2K2, MRAS, NRAS, PTPN11, RAF1, RASA2, RRAS, RRAS2, SHOC2, SOS1, SOS2 | 16.00 |
| 2 | Rasopathy | Enrichment | HRAS, KRAS, MAP2K1, MAP2K2, MRAS, NF1, NRAS, PTPN11, RAF1, RRAS2, SHOC2, SOS1, SOS2 | 16.00 |
| 3 | Noonan syndrome and noonan-related syndrome | Enrichment | HRAS, KRAS, MAP2K1, MAP2K2, NRAS, PTPN11, RAF1, SHOC2, SOS1 | 10.99 |
| 4 | Lung non-small cell carcinoma | Enrichment | EGFR, HRAS, KRAS, MAP2K1, NRAS, PIK3CA | 8.62 |
| 5 | Nevus, epidermal | Enrichment | FGFR3, HRAS, KRAS, NRAS, PIK3CA | 8.06 |
| 6 | Noonan syndrome 3 | Enrichment | HRAS, KRAS, PTPN11, RAF1, SOS1 | 8.06 |
| 7 | Arteriovenous malformation | Enrichment | HRAS, MAP2K1, PIK3CA, RASA1, TEK | 7.29 |
| 8 | Myopathy, x-linked, with excessive autophagy | Enrichment | HRAS, MAP2K1, PIK3CA, RASA1, TEK | 7.00 |
| 9 | Juvenile myelomonocytic leukemia | Enrichment | KRAS, NF1, NRAS, PTPN11, RRAS | 6.51 |
| 10 | Lip and oral cavity carcinoma | Enrichment | ABL1, EGFR, HRAS, KIT, PIK3CA | 6.51 |
| 11 | Lung squamous cell carcinoma | Enrichment | EGFR, FGFR3, KRAS, PIK3CA | 6.33 |
| 12 | Capillary malformation-arteriovenous malformation 1 | Enrichment | KRAS, MAP2K1, PIK3CA, RASA1 | 5.96 |
| 13 | Pilomyxoid astrocytoma | Enrichment | FGFR1, KRAS, NTRK2, RAF1 | 5.96 |
| 14 | Bladder cancer | Enrichment | EGFR, FGFR3, HRAS, KRAS, NF1, PIK3CA | 5.69 |
| 15 | Ovarian cancer | Enrichment | AKT1, EGFR, KIT, KRAS, MET, NTRK1, PDGFRA, PIK3CA, RRAS2 | 5.06 |
| 16 | Schimmelpenning-feuerstein-mims syndrome | Enrichment | HRAS, KRAS, NRAS | 5.02 |
| 17 | Cardiofaciocutaneous syndrome 1 | Enrichment | KRAS, MAP2K1, MAP2K2 | 5.02 |
| 18 | Megalencephaly-capillary malformation-polymicrogyria syndrome | Enrichment | AKT3, PIK3CA, PIK3R2 | 5.02 |
| 19 | Cardiofaciocutaneous syndrome | Enrichment | KRAS, MAP2K1, MAP2K2 | 5.02 |
| 20 | Chronic myelogenous leukemia, bcr-abl1 positive | Enrichment | ABL1, KRAS, NRAS | 5.02 |
| 21 | Colorectal cancer | Enrichment | AKT1, FGFR2, FGFR3, MET, NRAS, PIK3CA, PIK3R1, PLA2G2A | 4.65 |
| 22 | Primary hypereosinophilic syndrome | Enrichment | FGFR1, PDGFRA, PDGFRB | 4.63 |
| 23 | Microcephaly | Enrichment | ABL1, GNB1, GRIN2B, IGF1R, MAPK1, PAK3, PLA2G6, PTPN11, SYNGAP1 | 4.37 |
| 24 | Hemangioma, capillary infantile | Enrichment | FLT4, KDR, RASA1 | 4.33 |
| 25 | Breast adenocarcinoma | Enrichment | AKT1, KRAS, PIK3CA | 4.33 |
| 26 | Lung cancer | Enrichment | EGFR, FASLG, KRAS, MET, PIK3CA | 4.20 |
| 27 | Leukemia, chronic myeloid | Enrichment | ABL1, KRAS, NRAS | 4.09 |
| 28 | Melanocytic nevus syndrome, congenital | Enrichment | HRAS, NRAS, RAF1 | 3.89 |
| 29 | Catecholaminergic polymorphic ventricular tachycardia | Enrichment | CALM1, CALM2, CALM3 | 3.89 |
| 30 | Keratosis, seborrheic | Enrichment | FGFR3, PIK3CA | 3.74 |
| 31 | Pfeiffer syndrome | Enrichment | FGFR1, FGFR2 | 3.74 |
| 32 | Jackson-weiss syndrome | Enrichment | FGFR1, FGFR2 | 3.74 |
| 33 | Encephalocraniocutaneous lipomatosis | Enrichment | FGFR1, KRAS | 3.74 |
| 34 | Ras-associated autoimmune leukoproliferative disorder | Enrichment | KRAS, NRAS | 3.74 |
| 35 | Rosette-forming glioneuronal tumor | Enrichment | FGFR1, PIK3CA | 3.74 |
| 36 | Immune system disease | Enrichment | CDC42, PIK3CD | 3.74 |
| 37 | Crouzon syndrome | Enrichment | FGFR2, FGFR3 | 3.27 |
| 38 | Lacrimoauriculodentodigital syndrome 1 | Enrichment | FGFR2, FGFR3 | 3.27 |
| 39 | Langerhans cell histiocytosis | Enrichment | MAP2K1, NRAS | 3.27 |
| 40 | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | Enrichment | PIK3CA, PIK3R1 | 3.27 |
| 41 | Immunodeficiency 14a with lymphoproliferation, autosomal dominant | Enrichment | PIK3CD, PIK3R1 | 3.27 |
| 42 | Large congenital melanocytic nevus | Enrichment | HRAS, NRAS | 3.27 |
| 43 | Testicular germ cell cancer | Enrichment | FGFR3, KIT | 3.27 |
| 44 | Immunodeficiency 14 | Enrichment | PIK3CD, PIK3R1 | 3.27 |
| 45 | Spermatocytoma | Enrichment | FGFR3, HRAS | 3.27 |
| 46 | Differentiated thyroid carcinoma | Enrichment | HRAS, KRAS, NRAS, NTRK1 | 3.23 |
| 47 | Long qt syndrome 1 | Enrichment | CALM1, CALM2, CALM3, PTPN11 | 3.18 |
| 48 | Non-immune hydrops fetalis | Enrichment | FLT4, HRAS, KRAS, PTPN11 | 3.12 |
| 49 | Myeloma, multiple | Enrichment | FGFR3, FLT3, KRAS, NF1, PIK3R2 | 3.03 |
| 50 | Neurofibromatosis-noonan syndrome | Enrichment | MAP2K2, NF1 | 2.97 |
| 51 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | Enrichment | AKT3, PIK3R2 | 2.97 |
| 52 | Saethre-chotzen syndrome | Enrichment | FGFR2, FGFR3 | 2.97 |
| 53 | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | Enrichment | CDC42, PTPN11 | 2.97 |
| 54 | Noonan syndrome with multiple lentigines | Enrichment | PTPN11, RAF1 | 2.97 |
| 55 | Pilocytic astrocytoma | Enrichment | KRAS, NF1 | 2.97 |
| 56 | Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) | Enrichment | FLT3, KIT | 2.97 |
| 57 | Gliosarcoma | Enrichment | EGFR, FGFR1, FGFR3 | 2.93 |
| 58 | Giant cell glioblastoma | Enrichment | EGFR, FGFR1, FGFR3 | 2.85 |
| 59 | Complex neurodevelopmental disorder | Enrichment | GNB2, GRIN2B, PAK3, RAC3, RALA, SYNGAP1, TIAM1 | 2.84 |
| 60 | Hemifacial hyperplasia | Enrichment | FGFR2, FGFR3 | 2.75 |
| 61 | Capillary malformations, congenital | Enrichment | PIK3CA, RASA1 | 2.75 |
| 62 | Acute myeloid leukemia with maturation | Enrichment | FLT3, KIT | 2.75 |
| 63 | Hemimegalencephaly | Enrichment | AKT3, PIK3CA | 2.75 |
| 64 | Acute myeloid leukemia with t(8;21)(q22;q22) translocation | Enrichment | FLT3, KIT | 2.75 |
| 65 | Leukemia, acute myeloid | Enrichment | FLT3, KIT, KRAS, NRAS | 2.70 |
| 66 | Craniosynostosis | Enrichment | FGFR2, FGFR3, GRIN2B | 2.63 |
| 67 | Klippel-trenaunay-weber syndrome | Enrichment | PIK3CA, RASA1 | 2.58 |
| 68 | Cowden syndrome 1 | Enrichment | EGFR, PIK3CA | 2.58 |
| 69 | Hemihyperplasia, isolated | Enrichment | PIK3CA, RHOA | 2.58 |
| 70 | Testicular germ cell tumor | Enrichment | FGFR3, KIT | 2.58 |
| 71 | 46,xy disorder of sex development | Enrichment | FGFR3, INSR | 2.58 |
| 72 | Gastric cancer | Enrichment | FGFR2, KRAS, NF1, PIK3CA | 2.58 |
| 73 | Breast cancer | Enrichment | AKT1, GNG3, KRAS, PIK3CA, SHC1 | 2.47 |
| 74 | Thyroid cancer, nonmedullary, 2 | Enrichment | HRAS, NRAS | 2.44 |
| 75 | Gastrointestinal stromal tumor | Enrichment | KIT, PDGFRA | 2.44 |
| 76 | Gallbladder cancer | Enrichment | KRAS, PIK3CA | 2.44 |
| 77 | Follicular thyroid carcinoma | Enrichment | HRAS, NRAS | 2.44 |
| 78 | B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) | Enrichment | ABL1, FLT3 | 2.44 |
| 79 | Hydrops fetalis, nonimmune | Enrichment | FLT4, HRAS, PTPN11 | 2.30 |
| 80 | Ellis-van creveld syndrome | Enrichment | PRKACA, PRKACB | 2.21 |
| 81 | Cowden syndrome | Enrichment | AKT1, PIK3CA | 2.21 |
| 82 | Autosomal non-syndromic agammaglobulinemia | Enrichment | PIK3CD, PIK3R1 | 2.12 |
| 83 | Inherited cancer-predisposing syndrome | Enrichment | EGFR, KIT, MET, NF1, PDGFRA, PTPN11 | 2.05 |
| 84 | Pectus excavatum | Enrichment | PTPN11, SHOC2 | 2.04 |
| 85 | Leukemia, acute lymphoblastic | Enrichment | FLT3, GNB1 | 2.04 |
| 86 | Specific learning disability | Enrichment | MAPK1, PTPN11 | 2.04 |
| 87 | Severe combined immunodeficiency | Enrichment | IKBKB, STK4, ZAP70 | 2.01 |
| 88 | Meningioma | Enrichment | AKT1, PIK3CA | 1.96 |
| 89 | Nk-cell enteropathy | Enrichment | IGF1R, PIK3CB | 1.89 |
| 90 | Hypochondroplasia | Enrichment | FGFR3 | 1.87 |
| 91 | Macrodactyly | Enrichment | PIK3CA | 1.87 |
| 92 | Proteus syndrome | Enrichment | AKT1 | 1.87 |
| 93 | Beare-stevenson cutis gyrata syndrome | Enrichment | FGFR2 | 1.87 |
| 94 | Osteoglophonic dysplasia | Enrichment | FGFR1 | 1.87 |
| 95 | Metachondromatosis | Enrichment | PTPN11 | 1.87 |
| 96 | Cystic angiomatosis of bone, diffuse | Enrichment | RASA1 | 1.87 |
| 97 | Thanatophoric dysplasia, type i | Enrichment | FGFR3 | 1.87 |
| 98 | Trigonocephaly 1 | Enrichment | FGFR1 | 1.87 |
| 99 | Hypoinsulinemic hypoglycemia with hemihypertrophy | Enrichment | AKT2 | 1.87 |
| 100 | Donohue syndrome | Enrichment | INSR | 1.87 |
| 101 | Epilepsy, focal, with speech disorder and with or without impaired intellectual development | Enrichment | GRIN2A | 1.87 |
| 102 | Oculoectodermal syndrome | Enrichment | KRAS | 1.87 |
| 103 | Muenke syndrome | Enrichment | FGFR3 | 1.87 |
| 104 | Intellectual developmental disorder, x-linked 30 | Enrichment | PAK3 | 1.87 |
| 105 | Premature aging syndrome, penttinen type | Enrichment | PDGFRB | 1.87 |
| 106 | Incontinentia pigmenti | Enrichment | IKBKG | 1.87 |
| 107 | Hyperinsulinemic hypoglycemia, familial, 5 | Enrichment | INSR | 1.87 |
| 108 | Deafness, autosomal recessive 26 | Enrichment | GAB1 | 1.87 |
| 109 | Autoinflammatory disease, systemic, x-linked | Enrichment | IKBKG | 1.87 |
| 110 | Noonan syndrome 5 | Enrichment | RAF1 | 1.87 |
| 111 | Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities | Enrichment | INSR | 1.87 |
| 112 | Osteopetrosis and infantile neuroaxonal dystrophy | Enrichment | PLA2G6 | 1.87 |
| 113 | Diabetes mellitus, insulin-resistant, with acanthosis nigricans | Enrichment | INSR | 1.87 |
| 114 | Noonan syndrome 4 | Enrichment | SOS1 | 1.87 |
| 115 | Hypereosinophilic syndrome, idiopathic | Enrichment | PDGFRA | 1.87 |
| 116 | Immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis | Enrichment | RAC2 | 1.87 |
| 117 | Mastocytosis, cutaneous | Enrichment | KIT | 1.87 |
| 118 | Scaphocephaly, maxillary retrusion, and impaired intellectual development | Enrichment | FGFR2 | 1.87 |
| 119 | Melorheostosis, isolated | Enrichment | MAP2K1 | 1.87 |
| 120 | Megalencephaly, autosomal dominant | Enrichment | PIK3CA | 1.87 |
| 121 | Apert syndrome | Enrichment | FGFR2 | 1.87 |
| 122 | Leopard syndrome 1 | Enrichment | PTPN11 | 1.87 |
| 123 | Cardiomyopathy, dilated, 1nn | Enrichment | RAF1 | 1.87 |
| 124 | Cowden syndrome 5 | Enrichment | PIK3CA | 1.87 |
| 125 | Cardiac valvular dysplasia 1 | Enrichment | PLD1 | 1.87 |
| 126 | Cardiofaciocutaneous syndrome 3 | Enrichment | MAP2K1 | 1.87 |
| 127 | Myofibromatosis, infantile, 1 | Enrichment | PDGFRB | 1.87 |
| 128 | Melanosis, neurocutaneous | Enrichment | NRAS | 1.87 |
| 129 | Fleck retina, familial benign | Enrichment | PLA2G5 | 1.87 |
| 130 | Thanatophoric dysplasia, type ii | Enrichment | FGFR3 | 1.87 |
| 131 | Noonan syndrome 9 | Enrichment | SOS2 | 1.87 |
| 132 | Bleeding disorder, platelet-type, 18 | Enrichment | RASGRP2 | 1.87 |
| 133 | Noonan syndrome 6 | Enrichment | NRAS | 1.87 |
| 134 | Fetal encasement syndrome | Enrichment | CHUK | 1.87 |
| 135 | Gist-plus syndrome | Enrichment | PDGFRA | 1.87 |
| 136 | Camptodactyly, tall stature, and hearing loss syndrome | Enrichment | FGFR3 | 1.87 |
| 137 | Developmental and epileptic encephalopathy 27 | Enrichment | GRIN2B | 1.87 |
| 138 | Bent bone dysplasia syndrome 1 | Enrichment | FGFR2 | 1.87 |
| 139 | Hiatt-neu-cooper neurodevelopmental syndrome | Enrichment | RALA | 1.87 |
| 140 | Noonan syndrome 11 | Enrichment | MRAS | 1.87 |
| 141 | Immunodeficiency 64 with lymphoproliferation | Enrichment | RASGRP1 | 1.87 |
| 142 | Cerebral cavernous malformations 4 | Enrichment | PIK3CA | 1.87 |
| 143 | Immunodeficiency 15b | Enrichment | IKBKB | 1.87 |
| 144 | Neurodevelopmental disorder with hypotonia and dysmorphic facies | Enrichment | GNB2 | 1.87 |
| 145 | Noonan syndrome 13 | Enrichment | MAPK1 | 1.87 |
| 146 | Developmental and epileptic encephalopathy 58 | Enrichment | NTRK2 | 1.87 |
| 147 | Immunodeficiency 15a | Enrichment | IKBKB | 1.87 |
| 148 | Immunodeficiency 92 | Enrichment | REL | 1.87 |
| 149 | Neurodegeneration with brain iron accumulation 2a | Enrichment | PLA2G6 | 1.87 |
| 150 | Venous malformations, multiple cutaneous and mucosal | Enrichment | TEK | 1.87 |
| 151 | Knobloch syndrome 2 | Enrichment | PAK2 | 1.87 |
| 152 | Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies | Enrichment | RAC3 | 1.87 |
| 153 | Immunodeficiency 48 | Enrichment | ZAP70 | 1.87 |
| 154 | Short syndrome | Enrichment | PIK3R1 | 1.87 |
| 155 | Intellectual developmental disorder with macrocephaly, seizures, and speech delay | Enrichment | PAK1 | 1.87 |
| 156 | Ectodermal dysplasia and immunodeficiency 1 | Enrichment | IKBKG | 1.87 |
| 157 | Immune dysregulation, autoimmunity, and autoinflammation | Enrichment | PLCG1 | 1.87 |
| 158 | Osteofibrous dysplasia | Enrichment | MET | 1.87 |
| 159 | Immunodeficiency 110 with lymphoproliferation | Enrichment | STK4 | 1.87 |
| 160 | Myeloid and lymphoid neoplasms associated with pdgfra rearrangement | Enrichment | PDGFRA | 1.87 |
| 161 | Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia | Enrichment | RAC2 | 1.87 |
| 162 | Cardioacrofacial dysplasia 2 | Enrichment | PRKACB | 1.87 |
| 163 | Cardiofaciocutaneous syndrome 2 | Enrichment | KRAS | 1.87 |
| 164 | Deafness, autosomal recessive 97 | Enrichment | MET | 1.87 |
| 165 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | Enrichment | AKT3 | 1.87 |
| 166 | Lodder-merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmia | Enrichment | GNB5 | 1.87 |
| 167 | Crouzon syndrome with acanthosis nigricans | Enrichment | FGFR3 | 1.87 |
| 168 | Hemifacial myohyperplasia | Enrichment | PIK3CA | 1.87 |
| 169 | Noonan syndrome-like disorder with loose anagen hair 1 | Enrichment | SHOC2 | 1.87 |
| 170 | Parkinson disease 14, autosomal recessive | Enrichment | PLA2G6 | 1.87 |
| 171 | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive | Enrichment | GRIN1 | 1.87 |
| 172 | Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth | Enrichment | PIK3CA | 1.87 |
| 173 | Spinocerebellar ataxia 14 | Enrichment | PRKCG | 1.87 |
| 174 | Melorheostosis | Enrichment | MAP2K1 | 1.87 |
| 175 | Autism 9 | Enrichment | MET | 1.87 |
| 176 | Neurodegeneration with brain iron accumulation 2b | Enrichment | PLA2G6 | 1.87 |
| 177 | Leopard syndrome 2 | Enrichment | RAF1 | 1.87 |
| 178 | Intellectual developmental disorder, autosomal dominant 6, with or without seizures | Enrichment | GRIN2B | 1.87 |
| 179 | Basal ganglia calcification, idiopathic, 4 | Enrichment | PDGFRB | 1.87 |
| 180 | Cytosolic phospholipase-a2 alpha deficiency associated bleeding disorder | Enrichment | PLA2G4A | 1.87 |
| 181 | Immunodeficiency 36 with lymphoproliferation | Enrichment | PIK3R1 | 1.87 |
| 182 | Cardiofaciocutaneous syndrome 4 | Enrichment | MAP2K2 | 1.87 |
| 183 | Autoinflammation, antibody deficiency, and immune dysregulation | Enrichment | PLCG2 | 1.87 |
| 184 | Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies | Enrichment | RAP1B | 1.87 |
| 185 | Long qt syndrome 16 | Enrichment | CALM3 | 1.87 |
| 186 | Cowden syndrome 6 | Enrichment | AKT1 | 1.87 |
| 187 | Pigmented nodular adrenocortical disease, primary, 4 | Enrichment | PRKACA | 1.87 |
| 188 | Immunodeficiency 14b, autosomal recessive | Enrichment | PIK3CD | 1.87 |
| 189 | Myeloid and lymphoid neoplasms associated with pdgfrb rearrangement | Enrichment | PDGFRB | 1.87 |
| 190 | Charcot-marie-tooth disease, dominant intermediate f | Enrichment | GNB4 | 1.87 |
| 191 | Agammaglobulinemia 7, autosomal recessive | Enrichment | PIK3R1 | 1.87 |
| 192 | Acute myeloid leukemia with minimal differentiation | Enrichment | FLT3 | 1.87 |
| 193 | Developmental and epileptic encephalopathy 101 | Enrichment | GRIN1 | 1.87 |
| 194 | Obesity, hyperphagia, and developmental delay | Enrichment | NTRK2 | 1.87 |
| 195 | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant | Enrichment | GRIN1 | 1.87 |
| 196 | Achondroplasia, severe, with developmental delay and acanthosis nigricans | Enrichment | FGFR3 | 1.87 |
| 197 | Kosaki overgrowth syndrome | Enrichment | PDGFRB | 1.87 |
| 198 | Familial cold autoinflammatory syndrome 3 | Enrichment | PLCG2 | 1.87 |
| 199 | Autoimmune disease, multisystem, infantile-onset, 2 | Enrichment | ZAP70 | 1.87 |
| 200 | Hartsfield syndrome | Enrichment | FGFR1 | 1.87 |
| 201 | Congenital heart defects, multiple types, 7 | Enrichment | FLT4 | 1.87 |
| 202 | Cardioacrofacial dysplasia 1 | Enrichment | PRKACA | 1.87 |
| 203 | Gastrointestinal ulceration, recurrent, with dysfunctional platelets | Enrichment | PLA2G4A | 1.87 |
| 204 | Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies | Enrichment | RHOA | 1.87 |
| 205 | Takenouchi-kosaki syndrome | Enrichment | CDC42 | 1.87 |
| 206 | Intellectual developmental disorder, autosomal dominant 42 | Enrichment | GNB1 | 1.87 |
| 207 | Glaucoma 3, primary congenital, e | Enrichment | TEK | 1.87 |
| 208 | Bartsocas-papas syndrome 2 | Enrichment | CHUK | 1.87 |
| 209 | Sick sinus syndrome 4 | Enrichment | GNB2 | 1.87 |
| 210 | Brain abnormalities, neurodegeneration, and dysosteosclerosis | Enrichment | CSF1R | 1.87 |
| 211 | Neurodevelopmental disorder with language delay and seizures | Enrichment | TIAM1 | 1.87 |
| 212 | Ocular pterygium-digital keloid dysplasia syndrome | Enrichment | PDGFRB | 1.87 |
| 213 | Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies | Enrichment | RHOA | 1.87 |
| 214 | Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia | Enrichment | RAC2 | 1.87 |
| 215 | Chronic mast cell leukemia | Enrichment | KIT | 1.87 |
| 216 | Trigonitis | Enrichment | RAF1 | 1.87 |
| 217 | Segmental progressive overgrowth syndrome with fibroadipose hyperplasia | Enrichment | PIK3CA | 1.87 |
| 218 | Tufted angioma of skin | Enrichment | KDR | 1.87 |
| 219 | Plexiform neurofibroma | Enrichment | NF1 | 1.87 |
| 220 | Arthrogryposis, distal, type 11 | Enrichment | MET | 1.87 |
| 221 | Neurofibroma | Enrichment | NF1 | 1.87 |
| 222 | Lacrimoauriculodentodigital syndrome 2 | Enrichment | FGFR3 | 1.87 |
| 223 | Long qt syndrome 15 | Enrichment | CALM2 | 1.87 |
| 224 | Csf1r-related disorder | Enrichment | CSF1R | 1.87 |
| 225 | Lipodystrophy, familial partial, type 9 | Enrichment | PLAAT3 | 1.87 |
| 226 | Hypospadias | Enrichment | PIK3CA | 1.87 |
| 227 | Bockenheimer syndrome | Enrichment | TEK | 1.87 |
| 228 | Capillary hemangioma | Enrichment | AKT3 | 1.87 |
| 229 | Neurofibromatosis | Enrichment | NF1 | 1.87 |
| 230 | Grin2b-related neurodevelopmental disorder | Enrichment | GRIN2B | 1.87 |
| 231 | Landau-kleffner syndrome | Enrichment | GRIN2A | 1.87 |
| 232 | Chromosome 17q11.2 deletion syndrome | Enrichment | NF1 | 1.87 |
| 233 | Isolated bone marrow mastocytosis | Enrichment | KIT | 1.87 |
| 234 | Congenital pulmonary airway malformation | Enrichment | KRAS | 1.87 |
| 235 | Smoldering systemic mastocytosis | Enrichment | KIT | 1.87 |
| 236 | Optic nerve glioma | Enrichment | NF1 | 1.87 |
| 237 | Rare venous malformation | Enrichment | PIK3CA | 1.87 |
| 238 | Immunodeficiency 64 | Enrichment | RASGRP1 | 1.87 |
| 239 | Gorham's disease | Enrichment | RASA1 | 1.87 |
| 240 | Diaphragmatic eventration | Enrichment | PIK3CA | 1.87 |
| 241 | Infantile lad-like disease due to rac2 deficiency | Enrichment | RAC2 | 1.87 |
| 242 | Fgfr3-related chondrodysplasia | Enrichment | FGFR3 | 1.87 |
| 243 | Ebv-induced lymphoproliferative disease due to rasgrp1 deficiency | Enrichment | RASGRP1 | 1.87 |
| 244 | Reticular dysgenesis-like severe combined immunodeficiency | Enrichment | RAC2 | 1.87 |
| 245 | Nocarh syndrome | Enrichment | CDC42 | 1.87 |
| 246 | Mastocytosis | Enrichment | KIT | 1.87 |
| 247 | Pik3ca-related overgrowth spectrum | Enrichment | PIK3CA | 1.87 |
| 248 | Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to ikbka deficiency | Enrichment | CHUK | 1.87 |
| 249 | Camptodactyly-tall stature-scoliosis-hearing loss syndrome | Enrichment | FGFR3 | 1.87 |
| 250 | Early-onset calcifying leukoencephalopathy-skeletal dysplasia | Enrichment | CSF1R | 1.87 |
| 251 | Rare combined vascular malformation | Enrichment | PIK3CA | 1.87 |
| 252 | Cavernous lymphangioma | Enrichment | PIK3CA | 1.87 |
| 253 | Intellectual disability, autosomal dominant 8 | Enrichment | GRIN1 | 1.87 |
| 254 | Cryptogenic multifocal ulcerous stenosing enteritis | Enrichment | PLA2G4A | 1.87 |
| 255 | Pik3ca-related overgrowth syndrome | Enrichment | PIK3CA | 1.87 |
| 256 | Cutaneous mastocytoma | Enrichment | KIT | 1.87 |
| 257 | Early-onset epileptic encephalopathy and intellectual disability due to grin2a mutation | Enrichment | GRIN2A | 1.87 |
| 258 | Grin2a-related disorders | Enrichment | GRIN2A | 1.87 |
| 259 | Typical urticaria pigmentosa | Enrichment | KIT | 1.87 |
| 260 | Phakomatosis pigmentokeratotica | Enrichment | HRAS | 1.87 |
| 261 | Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom | Enrichment | RAC1 | 1.87 |
| 262 | Nodular urticaria pigmentosa | Enrichment | KIT | 1.87 |
| 263 | Hartsfield-bixler-demyer syndrome | Enrichment | FGFR1 | 1.87 |
| 264 | Hemihyperplasia-multiple lipomatosis syndrome | Enrichment | PIK3CA | 1.87 |
| 265 | Pseudoxanthomatous diffuse cutaneous mastocytosis | Enrichment | KIT | 1.87 |
| 266 | Telangiectasia macularis eruptiva perstans | Enrichment | KIT | 1.87 |
| 267 | Acute mast cell leukemia | Enrichment | KIT | 1.87 |
| 268 | Eccrine angiomatous hamartoma | Enrichment | PIK3CA | 1.87 |
| 269 | Rac2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndrome | Enrichment | RAC2 | 1.87 |
| 270 | Non-syndromic unicoronal craniosynostosis | Enrichment | FGFR2 | 1.87 |
| 271 | Familial benign flecked retina | Enrichment | PLA2G5 | 1.87 |
| 272 | Plaque-form urticaria pigmentosa | Enrichment | KIT | 1.87 |
| 273 | Macrodactyly of toe | Enrichment | PIK3CA | 1.87 |
| 274 | Neurocutaneous melanocytosis | Enrichment | NRAS | 1.87 |
| 275 | Bullous diffuse cutaneous mastocytosis | Enrichment | KIT | 1.87 |
| 276 | Zap70-related severe combined immunodeficiency | Enrichment | ZAP70 | 1.87 |
| 277 | Akt2-related familial partial lipodystrophy | Enrichment | AKT2 | 1.87 |
| 278 | Malignant astrocytoma | Enrichment | PTPN11 | 1.87 |
| 279 | Testis seminoma | Enrichment | KIT | 1.87 |
| 280 | Lung cancer susceptibility 3 | Enrichment | EGFR, KRAS | 1.83 |
| 281 | Cerebral palsy | Enrichment | GNB1, GRIN2B, PDGFRB | 1.81 |
| 282 | Autism spectrum disorder | Enrichment | GNB1, GRIN2B, MAP2K1, NF1, PTPN11 | 1.80 |
| 283 | Hydrocephalus | Enrichment | FGFR2, PDGFRB | 1.77 |
| 284 | Lynch syndrome | Enrichment | KRAS, PIK3CA | 1.77 |
| 285 | Rhabdomyosarcoma | Enrichment | HRAS, NF1 | 1.72 |
| 286 | West syndrome | Enrichment | GRIN1, GRIN2B, NTRK2 | 1.67 |
| 287 | Hereditary breast carcinoma | Enrichment | AKT1, KRAS, PIK3CA | 1.67 |
| 288 | Arteriovenous malformations of the brain | Enrichment | EGFR, KRAS | 1.57 |
| 289 | Lymphatic malformation 1 | Enrichment | FLT4 | 1.57 |
| 290 | Cafe-au-lait spots, multiple | Enrichment | NF1 | 1.57 |
| 291 | Blue rubber bleb nevus | Enrichment | TEK | 1.57 |
| 292 | Myeloproliferative disorder, chronic, with eosinophilia | Enrichment | PDGFRB | 1.57 |
| 293 | Fibromatosis, gingival, 1 | Enrichment | SOS1 | 1.57 |
| 294 | Costello syndrome | Enrichment | HRAS | 1.57 |
| 295 | Insensitivity to pain, congenital, with anhidrosis | Enrichment | NTRK1 | 1.57 |
| 296 | Intracranial hypertension, idiopathic | Enrichment | FLT4 | 1.57 |
| 297 | Cervical cancer | Enrichment | FGFR3 | 1.57 |
| 298 | Immunodeficiency 33 | Enrichment | IKBKG | 1.57 |
| 299 | Pulmonic stenosis | Enrichment | SOS1 | 1.57 |
| 300 | Piebald trait | Enrichment | KIT | 1.57 |
| 301 | Hyperinsulinemic hypoglycemia, familial, 4 | Enrichment | INSR | 1.57 |
| 302 | Aural atresia, congenital | Enrichment | FGFR2 | 1.57 |
| 303 | Intellectual developmental disorder, autosomal recessive 5 | Enrichment | SYNGAP1 | 1.57 |
| 304 | Ventricular tachycardia, catecholaminergic polymorphic, 4 | Enrichment | CALM1 | 1.57 |
| 305 | Roifman-chitayat syndrome | Enrichment | PIK3CD | 1.57 |
| 306 | Bleeding disorder, platelet-type, 19 | Enrichment | PRKACG | 1.57 |
| 307 | Angioma, tufted | Enrichment | KDR | 1.57 |
| 308 | Night blindness, congenital stationary, type 1h | Enrichment | GNB3 | 1.57 |
| 309 | Noonan syndrome 8 | Enrichment | PIK3CA | 1.57 |
| 310 | Immunodeficiency, common variable, 12, with autoimmunity | Enrichment | NFKB1 | 1.57 |
| 311 | Long qt syndrome 14 | Enrichment | CALM1 | 1.57 |
| 312 | Pain sensitivity quantitative trait locus 1 | Enrichment | NTRK1 | 1.57 |
| 313 | Antley-bixler syndrome without genital anomalies or disordered steroidogenesis | Enrichment | FGFR2 | 1.57 |
| 314 | Intellectual developmental disorder, autosomal dominant 48 | Enrichment | RAC1 | 1.57 |
| 315 | Congenital heart defects and skeletal malformations syndrome | Enrichment | ABL1 | 1.57 |
| 316 | Werner syndrome | Enrichment | PTPN11 | 1.57 |
| 317 | Noonan syndrome 12 | Enrichment | RRAS2 | 1.57 |
| 318 | Autoinflammatory disease, familial, behcet-like 3 | Enrichment | RELA | 1.57 |
| 319 | Chromosome 17q11.2 duplication syndrome, 1.4-mb | Enrichment | NF1 | 1.57 |
| 320 | Infantile myofibromatosis | Enrichment | PDGFRB | 1.57 |
| 321 | Childhood hepatocellular carcinoma | Enrichment | MET | 1.57 |
| 322 | Noonan syndrome-like disorder with loose anagen hair | Enrichment | SHOC2 | 1.57 |
| 323 | Rela fusion-positive ependymoma | Enrichment | RELA | 1.57 |
| 324 | Bilateral generalized polymicrogyria | Enrichment | GRIN1 | 1.57 |
| 325 | Intellectual developmental disorder, autosomal dominant 21 | Enrichment | GRIN2A | 1.57 |
| 326 | Senior-loken syndrome 7 | Enrichment | AKT3 | 1.57 |
| 327 | Split hand-foot malformation | Enrichment | FGFR2 | 1.57 |
| 328 | Papillary renal cell carcinoma | Enrichment | MET | 1.57 |
| 329 | Fibrolamellar carcinoma | Enrichment | PRKACA | 1.57 |
| 330 | Ectodermal dysplasia and immune deficiency | Enrichment | IKBKG | 1.57 |
| 331 | Bardet-biedl syndrome 9 | Enrichment | NF1 | 1.57 |
| 332 | Cervix carcinoma | Enrichment | FGFR3 | 1.57 |
| 333 | Bardet-biedl syndrome 16 | Enrichment | AKT3 | 1.57 |
| 334 | Lodder-merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmia | Enrichment | GNB5 | 1.57 |
| 335 | Hereditary lymphedema i | Enrichment | FLT4 | 1.57 |
| 336 | Glucosephosphate dehydrogenase deficiency | Enrichment | IKBKG | 1.57 |
| 337 | Immunodeficiency 52 | Enrichment | LAT | 1.57 |
| 338 | Acute myeloid leukemia without maturation | Enrichment | FLT3 | 1.57 |
| 339 | Interfrontal craniofaciosynostosis | Enrichment | FGFR1 | 1.57 |
| 340 | Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia | Enrichment | EXOC2 | 1.57 |
| 341 | Autosomal dominant nonsyndromic deafness | Enrichment | FGFR2 | 1.57 |
| 342 | Rolandic epilepsy-speech dyspraxia syndrome | Enrichment | GRIN2A | 1.57 |
| 343 | Chronic eosinophilic leukemia | Enrichment | PDGFRA | 1.57 |
| 344 | B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality | Enrichment | PDGFRA | 1.57 |
| 345 | Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) | Enrichment | FLT3 | 1.57 |
| 346 | B-lymphoblastic leukemia/lymphoma with t | Enrichment | KIT | 1.57 |
| 347 | Common variable immunodeficiency 12 | Enrichment | NFKB1 | 1.57 |
| 348 | Pleomorphic rhabdomyosarcoma | Enrichment | NF1 | 1.57 |
| 349 | Tafro syndrome | Enrichment | MAP2K2 | 1.57 |
| 350 | Infantile osteopetrosis with neuroaxonal dysplasia | Enrichment | PLA2G6 | 1.57 |
| 351 | Epilepsy-aphasia spectrum | Enrichment | GRIN2A | 1.57 |
| 352 | Cerebral visual impairment | Enrichment | GNB1 | 1.57 |
| 353 | Wooly hair nevus | Enrichment | HRAS | 1.57 |
| 354 | Autosomal dominant non-syndromic intellectual disability | Enrichment | GNB1, GRIN1, GRIN2B | 1.53 |
| 355 | Endometrial cancer | Enrichment | FGFR2, PIK3CA | 1.49 |
| 356 | Hepatocellular carcinoma | Enrichment | MET, PIK3CA | 1.46 |
| 357 | Precursor t-cell acute lymphoblastic leukemia | Enrichment | ABL1, FLT3 | 1.42 |
| 358 | Achondroplasia | Enrichment | FGFR3 | 1.40 |
| 359 | Jacobsen syndrome | Enrichment | ETS1 | 1.40 |
| 360 | Hypogonadotropic hypogonadism 2 with or without anosmia | Enrichment | FGFR1 | 1.40 |
| 361 | Larsen syndrome | Enrichment | FGFR3 | 1.40 |
| 362 | Thyroid carcinoma, familial medullary | Enrichment | NTRK1 | 1.40 |
| 363 | Pompe disease, infantile-onset | Enrichment | PIK3CA | 1.40 |
| 364 | Watson syndrome | Enrichment | NF1 | 1.40 |
| 365 | Immunodeficiency 98 with autoinflammation, x-linked | Enrichment | FASLG | 1.40 |
| 366 | Leukoencephalopathy, hereditary diffuse, with spheroids 1 | Enrichment | CSF1R | 1.40 |
| 367 | Nuchal bleb, familial | Enrichment | SOS1 | 1.40 |
| 368 | Late-onset retinal degeneration | Enrichment | PLA2G5 | 1.40 |
| 369 | Intellectual developmental disorder, autosomal dominant 5 | Enrichment | SYNGAP1 | 1.40 |
| 370 | Nephrotic syndrome, type 3 | Enrichment | PLCE1 | 1.40 |
| 371 | Neurofibromatosis, familial spinal | Enrichment | NF1 | 1.40 |
| 372 | Chromosome 8p11 myeloproliferative syndrome | Enrichment | FGFR1 | 1.40 |
| 373 | Chromosome 17q11.2 deletion syndrome, 1.4-mb | Enrichment | NF1 | 1.40 |
| 374 | Neonatal nephrocutaneous inflammatory syndrome | Enrichment | EGFR | 1.40 |
| 375 | Wieacker-wolff syndrome | Enrichment | RASA1 | 1.40 |
| 376 | Polycystic kidney disease 4 | Enrichment | SHOC2 | 1.40 |
| 377 | Hamartoma | Enrichment | FGFR3 | 1.40 |
| 378 | T-cell acute lymphoblastic leukemia | Enrichment | ABL1 | 1.40 |
| 379 | Brain cancer | Enrichment | NF1 | 1.40 |
| 380 | Growth delay due to insulin-like growth factor i resistance | Enrichment | IGF1R | 1.40 |
| 381 | Neonatal inflammatory skin and bowel disease | Enrichment | EGFR | 1.40 |
| 382 | Tricuspid valve insufficiency | Enrichment | PTPN11 | 1.40 |
| 383 | Mixed phenotype acute leukemia with t | Enrichment | FLT3 | 1.40 |
| 384 | Renal cell carcinoma | Enrichment | MET | 1.40 |
| 385 | Testicular cancer | Enrichment | FGFR3 | 1.40 |
| 386 | Keratoacanthoma | Enrichment | PIK3CA | 1.40 |
| 387 | Scoliosis | Enrichment | GRIN2B, PTPN11 | 1.39 |
| 388 | Tetralogy of fallot | Enrichment | FLT4, KDR | 1.32 |
| 389 | Strabismus | Enrichment | GNB1, PTPN11 | 1.29 |
| 390 | Diffuse gastric and lobular breast cancer syndrome | Enrichment | KRAS | 1.28 |
| 391 | Spastic paraplegia 17, autosomal dominant | Enrichment | GNG3 | 1.28 |
| 392 | Astigmatism | Enrichment | GRIN2B | 1.28 |
| 393 | Autoimmune lymphoproliferative syndrome | Enrichment | FASLG | 1.28 |
| 394 | Lipodystrophy, congenital generalized, type 2 | Enrichment | GNG3 | 1.28 |
| 395 | Glaucoma 3, primary infantile, b | Enrichment | TEK | 1.28 |
| 396 | Chromosome 22q11.2 deletion syndrome, distal | Enrichment | MAPK1 | 1.28 |
| 397 | Lung sarcomatoid carcinoma | Enrichment | KRAS | 1.28 |
| 398 | Chronic myelomonocytic leukemia | Enrichment | FLT3 | 1.28 |
| 399 | Hereditary ataxia | Enrichment | PRKCG | 1.28 |
| 400 | Ciliary dyskinesia, primary, 22 | Enrichment | RASSF1 | 1.28 |
| 401 | Cerebrovascular disease | Enrichment | PIK3CA | 1.28 |
| 402 | Embryonal rhabdomyosarcoma | Enrichment | NF1 | 1.28 |
| 403 | Epidermolytic nevus | Enrichment | HRAS | 1.28 |
| 404 | Familial cerebral cavernous malformations | Enrichment | PIK3CA | 1.28 |
| 405 | Knobloch syndrome | Enrichment | PAK2 | 1.28 |
| 406 | Non-syndromic bicoronal craniosynostosis | Enrichment | FGFR3 | 1.28 |
| 407 | Systemic mastocytosis with associated hematologic neoplasm | Enrichment | KIT | 1.28 |
| 408 | Glioma | Enrichment | FGFR2 | 1.28 |
| 409 | Middle aortic syndrome | Enrichment | NF1 | 1.28 |
| 410 | Gingival fibromatosis | Enrichment | SOS1 | 1.28 |
| 411 | Male infertility due to gonadal dysgenesis or sperm disorder | Enrichment | SOS2 | 1.28 |
| 412 | Familial sick sinus syndrome | Enrichment | GNB2 | 1.28 |
| 413 | Long qt syndrome | Enrichment | CALM1, CALM2 | 1.19 |
| 414 | Cataract 6, multiple types | Enrichment | EPHA2 | 1.18 |
| 415 | Anemia, congenital, nonspherocytic hemolytic, 1 | Enrichment | IKBKG | 1.18 |
| 416 | Polycystic kidney disease 3 with or without polycystic liver disease | Enrichment | SHOC2 | 1.18 |
| 417 | Rhabdomyosarcoma 2 | Enrichment | NF1 | 1.18 |
| 418 | Insulin-like growth factor i | Enrichment | IGF1R | 1.18 |
| 419 | Knobloch syndrome 1 | Enrichment | PAK2 | 1.18 |
| 420 | Mosaic variegated aneuploidy syndrome 1 | Enrichment | BUB1B-PAK6 | 1.18 |
| 421 | Pre-eclampsia | Enrichment | FLT1 | 1.18 |
| 422 | Lymphoma | Enrichment | PTPN11 | 1.18 |
| 423 | Holoprosencephaly | Enrichment | FGFR1 | 1.18 |
| 424 | Aniridia | Enrichment | EPHA2 | 1.18 |
| 425 | Sleep disorder | Enrichment | GRIN2B | 1.18 |
| 426 | Telangiectasia, hereditary hemorrhagic, type 1 | Enrichment | RASA1 | 1.11 |
| 427 | Split-hand/foot malformation 1 | Enrichment | FGFR2 | 1.11 |
| 428 | Holoprosencephaly 1 | Enrichment | FGFR1 | 1.11 |
| 429 | Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy | Enrichment | CALM1 | 1.11 |
| 430 | Basal cell carcinoma 1 | Enrichment | RASA1 | 1.11 |
| 431 | Patent ductus arteriosus | Enrichment | PTPN11 | 1.11 |
| 432 | Glaucoma 3, primary congenital, a | Enrichment | TEK | 1.04 |
| 433 | Squamous cell carcinoma, head and neck | Enrichment | EGFR | 1.04 |
| 434 | Renal cell carcinoma, papillary, 1 | Enrichment | MET | 1.04 |
| 435 | Neuropathy, hereditary sensory and autonomic, type v | Enrichment | NTRK1 | 1.04 |
| 436 | Hereditary hemorrhagic telangiectasia | Enrichment | RASA1 | 1.04 |
| 437 | Megacolon | Enrichment | AKT3 | 1.04 |
| 438 | Common variable immunodeficiency | Enrichment | NFKB1 | 1.04 |
| 439 | Overgrowth syndrome | Enrichment | PIK3R1 | 1.04 |
| 440 | Moyamoya angiopathy | Enrichment | ABL1 | 1.04 |
| 441 | Epilepsy | Enrichment | GRIN2A, GRIN2B | 0.99 |
| 442 | Arthrogryposis, distal, type 1a | Enrichment | MET | 0.99 |
| 443 | Basal ganglia calcification, idiopathic, 1 | Enrichment | PDGFRB | 0.99 |
| 444 | Polycystic kidney disease 4 with or without polycystic liver disease | Enrichment | SHOC2 | 0.99 |
| 445 | Ewing sarcoma | Enrichment | NF1 | 0.99 |
| 446 | Lennox-gastaut syndrome | Enrichment | MAPK10 | 0.99 |
| 447 | Catecholaminergic polymorphic ventricular tachycardia 1 | Enrichment | CALM1 | 0.99 |
| 448 | Mosaic variegated aneuploidy syndrome | Enrichment | BUB1B-PAK6 | 0.99 |
| 449 | Hypothyroidism | Enrichment | GNB1 | 0.99 |
| 450 | Childhood-onset schizophrenia | Enrichment | TTBK1 | 0.99 |
| 451 | Early-onset posterior polar cataract | Enrichment | EPHA2 | 0.99 |
| 452 | Benign epilepsy with centrotemporal spikes | Enrichment | GRIN1, GRIN2A | 0.98 |
| 453 | Type 2 diabetes mellitus | Enrichment | AKT2, INSR | 0.96 |
| 454 | Centralopathic epilepsy | Enrichment | GRIN1, GRIN2A | 0.94 |
| 455 | Neurofibromatosis, type i | Enrichment | NF1 | 0.94 |
| 456 | Nephrotic syndrome, type 1 | Enrichment | PLCE1 | 0.94 |
| 457 | Coronary heart disease 5 | Enrichment | IKBKG | 0.94 |
| 458 | Leukemia, acute lymphoblastic 3 | Enrichment | NF1 | 0.94 |
| 459 | Myoclonic-atonic epilepsy | Enrichment | SYNGAP1 | 0.94 |
| 460 | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | Enrichment | RAC1 | 0.94 |
| 461 | Atypical chronic myeloid leukemia, bcr-abl1 negative | Enrichment | FLT3 | 0.94 |
| 462 | Adult hepatocellular carcinoma | Enrichment | PIK3CA | 0.94 |
| 463 | Hypogonadotropic hypogonadism | Enrichment | FGFR1 | 0.94 |
| 464 | Ventricular septal defect | Enrichment | TEK | 0.94 |
| 465 | Meier-gorlin syndrome 1 | Enrichment | FGFR2 | 0.90 |
| 466 | Ciliary dyskinesia, primary, 3 | Enrichment | NFKB1 | 0.90 |
| 467 | Neurodegeneration with brain iron accumulation | Enrichment | PLA2G6 | 0.90 |
| 468 | Polymicrogyria | Enrichment | AKT3 | 0.90 |
| 469 | Familial colorectal cancer | Enrichment | PLA2G2A | 0.90 |
| 470 | Primary bone dysplasia | Enrichment | FGFR3 | 0.90 |
| 471 | Frontotemporal dementia 1 | Enrichment | CSF1R | 0.86 |
| 472 | Myelodysplastic syndrome | Enrichment | GNB1 | 0.86 |
| 473 | Combined immunodeficiency | Enrichment | ZAP70 | 0.86 |
| 474 | Osteochondrodysplasia | Enrichment | FGFR3 | 0.86 |
| 475 | Combined t cell and b cell immunodeficiency | Enrichment | ZAP70 | 0.86 |
| 476 | Combined t and b cell immunodeficiency | Enrichment | ZAP70 | 0.86 |
| 477 | Epicanthus | Enrichment | PTPN11 | 0.82 |
| 478 | Septooptic dysplasia | Enrichment | FGFR1 | 0.82 |
| 479 | Renal hypodysplasia/aplasia 3 | Enrichment | FGFR3 | 0.82 |
| 480 | Congenital long qt syndrome | Enrichment | PTPN11 | 0.82 |
| 481 | Hypertelorism | Enrichment | FGFR2, PIK3CA | 0.81 |
| 482 | Aortic valve disease 1 | Enrichment | SOS1 | 0.79 |
| 483 | Alzheimer's disease | Enrichment | CSF1R | 0.79 |
| 484 | Stereotypic movement disorder | Enrichment | SYNGAP1 | 0.79 |
| 485 | Protein-deficiency anemia | Enrichment | NRAS | 0.79 |
| 486 | Hereditary breast ovarian cancer syndrome | Enrichment | KRAS, NF1 | 0.77 |
| 487 | Congenital nervous system abnormality | Enrichment | FGFR3, GNB5, PLA2G6 | 0.76 |
| 488 | Nervous system disease | Enrichment | FGFR3, GNB5, PLA2G6 | 0.76 |
| 489 | Hypogonadotropic hypogonadism 7 with or without anosmia | Enrichment | FGFR1 | 0.76 |
| 490 | Pheochromocytoma | Enrichment | NF1 | 0.76 |
| 491 | Heart disease | Enrichment | ABL1 | 0.76 |
| 492 | Cataract | Enrichment | EPHA2 | 0.76 |
| 493 | Cleft lip/palate | Enrichment | PDGFRA | 0.76 |
| 494 | 46,xy partial gonadal dysgenesis | Enrichment | SOS1 | 0.76 |
| 495 | Renal cell carcinoma, nonpapillary | Enrichment | MET | 0.73 |
| 496 | Primary ovarian insufficiency | Enrichment | KDR, NTRK1 | 0.72 |
| 497 | Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay | Enrichment | PLA2G6 | 0.71 |
| 498 | Microform holoprosencephaly | Enrichment | FGFR1 | 0.71 |
| 499 | Lobar holoprosencephaly | Enrichment | FGFR1 | 0.71 |
| 500 | Alzheimer disease, familial, 1 | Enrichment | CSF1R | 0.69 |
| 501 | Hypertension, essential | Enrichment | GNB3 | 0.69 |
| 502 | Cleft palate, isolated | Enrichment | GNB1 | 0.69 |
| 503 | Dandy-walker syndrome | Enrichment | PDGFRB | 0.69 |
| 504 | Sudden infant death syndrome | Enrichment | CALM2 | 0.69 |
| 505 | Cataract 44 | Enrichment | EPHA2 | 0.69 |
| 506 | Heart, malformation of | Enrichment | MAPK1 | 0.66 |
| 507 | Patent foramen ovale | Enrichment | PTPN11 | 0.66 |
| 508 | Early infantile developmental and epileptic encephalopathy | Enrichment | GRIN1 | 0.66 |
| 509 | Semilobar holoprosencephaly | Enrichment | FGFR1 | 0.66 |
| 510 | Normosmic congenital hypogonadotropic hypogonadism | Enrichment | FGFR1 | 0.66 |
| 511 | Early-onset nuclear cataract | Enrichment | EPHA2 | 0.66 |
| 512 | Focal segmental glomerulosclerosis | Enrichment | PLCE1 | 0.62 |
| 513 | Cardiomyopathy, dilated, 1a | Enrichment | RAPGEF5 | 0.60 |
| 514 | Hepatoblastoma | Enrichment | FGFR3 | 0.60 |
| 515 | Hereditary paraganglioma-pheochromocytoma syndromes | Enrichment | NF1 | 0.60 |
| 516 | Attention deficit-hyperactivity disorder | Enrichment | GNB5 | 0.59 |
| 517 | Tooth agenesis | Enrichment | FGFR1 | 0.59 |
| 518 | Skin disease | Enrichment | NF1 | 0.59 |
| 519 | Malaria | Enrichment | IKBKG | 0.57 |
| 520 | Congenital stationary night blindness | Enrichment | GNB3 | 0.57 |
| 521 | Kallmann syndrome | Enrichment | FGFR1 | 0.57 |
| 522 | Cardiomyopathy, familial hypertrophic, 1 | Enrichment | RAF1 | 0.56 |
| 523 | Pancreatic cancer | Enrichment | KRAS | 0.54 |
| 524 | Developmental and epileptic encephalopathy 1 | Enrichment | GRIN1 | 0.54 |
| 525 | Prostate cancer | Enrichment | PIK3CA | 0.49 |
| 526 | Connective tissue disease | Enrichment | FGFR3 | 0.45 |
| 527 | Familial hypertrophic cardiomyopathy | Enrichment | RAF1 | 0.44 |
| 528 | Genetic steroid-resistant nephrotic syndrome | Enrichment | PLCE1 | 0.43 |
| 529 | Left ventricular noncompaction | Enrichment | RAF1 | 0.42 |
| 530 | Dystonia | Enrichment | GNB1 | 0.42 |
| 531 | Systemic lupus erythematosus | Enrichment | ETS1 | 0.39 |
| 532 | Nephrotic syndrome | Enrichment | PLCE1 | 0.35 |
| 533 | Hypertrophic cardiomyopathy | Enrichment | PTPN11 | 0.35 |
| 534 | Thrombocytopenia | Enrichment | PTPN11 | 0.32 |
| 535 | Spastic ataxia | Enrichment | PLA2G6 | 0.29 |
| 536 | Familial isolated dilated cardiomyopathy | Enrichment | RAF1 | 0.29 |
| 537 | Male infertility with azoospermia or oligozoospermia due to single gene mutation | Enrichment | PTPN11 | 0.27 |
| 538 | Undetermined early-onset epileptic encephalopathy | Enrichment | NTRK2 | 0.27 |
| 539 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 | Enrichment | CSF1R | 0.26 |
| 540 | Autosomal recessive non-syndromic intellectual disability | Enrichment | GRIN1 | 0.26 |
| 541 | Dilated cardiomyopathy | Enrichment | RAF1 | 0.18 |
| 542 | Rare autosomal recessive non-syndromic sensorineural deafness type dfnb | Enrichment | MET | 0.15 |