| 1 | Nevus, epidermal | Enrichment | FGFR3, HRAS, KRAS, NRAS, PIK3CA | 10.57 |
| 2 | Noonan syndrome and noonan-related syndrome | Enrichment | HRAS, KRAS, NRAS, SOS1 | 10.29 |
| 3 | Noonan syndrome 1 | Enrichment | HRAS, KRAS, NRAS, SOS1 | 9.60 |
| 4 | Rasopathy | Enrichment | HRAS, KRAS, NRAS, SOS1 | 9.43 |
| 5 | Schimmelpenning-feuerstein-mims syndrome | Enrichment | HRAS, KRAS, NRAS | 9.43 |
| 6 | Noonan syndrome 3 | Enrichment | HRAS, KRAS, SOS1 | 8.53 |
| 7 | Lung non-small cell carcinoma | Enrichment | HRAS, KRAS, NRAS | 7.86 |
| 8 | Lacrimoauriculodentodigital syndrome 1 | Enrichment | FGF10, FGFR2, FGFR3 | 7.50 |
| 9 | Autosomal recessive cutis laxa type ii classic type | Enrichment | ATP6V0A2, ATP6V1A, ATP6V1E1 | 6.67 |
| 10 | Ras-associated autoimmune leukoproliferative disorder | Enrichment | KRAS, NRAS | 6.64 |
| 11 | Type 2 diabetes mellitus | Enrichment | INSR, IRS1, IRS2 | 6.56 |
| 12 | Differentiated thyroid carcinoma | Enrichment | HRAS, KRAS, NRAS | 6.51 |
| 13 | Large congenital melanocytic nevus | Enrichment | HRAS, NRAS | 6.16 |
| 14 | Lung squamous cell carcinoma | Enrichment | FGFR3, KRAS, PIK3CA | 6.08 |
| 15 | Colorectal cancer | Enrichment | FGFR2, FGFR3, IGF2, NRAS, PIK3CA, PIK3R1 | 6.03 |
| 16 | Chronic myelogenous leukemia, bcr-abl1 positive | Enrichment | KRAS, NRAS | 5.86 |
| 17 | Bladder cancer | Enrichment | FGFR3, HRAS, KRAS, PIK3CA | 5.51 |
| 18 | Insulin-like growth factor i | Enrichment | IGF1, IGF1R | 5.41 |
| 19 | Renal tubular acidosis, distal, 1 | Enrichment | ATP6V0A4, ATP6V1B1, ATP6V1C2 | 5.38 |
| 20 | Distal renal tubular acidosis | Enrichment | ATP6V0A4, ATP6V1B1, ATP6V1C2 | 5.38 |
| 21 | Thyroid cancer, nonmedullary, 2 | Enrichment | HRAS, NRAS | 5.32 |
| 22 | Leukemia, chronic myeloid | Enrichment | KRAS, NRAS | 5.32 |
| 23 | Follicular thyroid carcinoma | Enrichment | HRAS, NRAS | 5.32 |
| 24 | Melanocytic nevus syndrome, congenital | Enrichment | HRAS, NRAS | 5.20 |
| 25 | Juvenile myelomonocytic leukemia | Enrichment | KRAS, NRAS, PTPN11 | 5.05 |
| 26 | Keratosis, seborrheic | Enrichment | FGFR3, PIK3CA | 4.99 |
| 27 | Pfeiffer syndrome | Enrichment | FGFR1, FGFR2 | 4.99 |
| 28 | Jackson-weiss syndrome | Enrichment | FGFR1, FGFR2 | 4.99 |
| 29 | Rosette-forming glioneuronal tumor | Enrichment | FGFR1, PIK3CA | 4.99 |
| 30 | Encephalocraniocutaneous lipomatosis | Enrichment | FGFR1, KRAS | 4.91 |
| 31 | Normosmic congenital hypogonadotropic hypogonadism | Enrichment | FGF17, FGF8, FGFR1 | 4.60 |
| 32 | Crouzon syndrome | Enrichment | FGFR2, FGFR3 | 4.51 |
| 33 | Tumoral calcinosis, hyperphosphatemic, familial, 1 | Enrichment | FGF23, KL | 4.51 |
| 34 | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | Enrichment | PIK3CA, PIK3R1 | 4.51 |
| 35 | Spermatocytoma | Enrichment | FGFR3, HRAS | 4.44 |
| 36 | Myeloma, multiple | Enrichment | FGFR3, FLT3, KRAS, PIK3R2 | 4.35 |
| 37 | Kallmann syndrome | Enrichment | FGF17, FGF8, FGFR1 | 4.27 |
| 38 | Megalencephaly-capillary malformation-polymicrogyria syndrome | Enrichment | PIK3CA, PIK3R2 | 4.21 |
| 39 | Saethre-chotzen syndrome | Enrichment | FGFR2, FGFR3 | 4.21 |
| 40 | Hemifacial hyperplasia | Enrichment | FGFR2, FGFR3 | 3.99 |
| 41 | Holoprosencephaly | Enrichment | FGF8, FGFR1 | 3.99 |
| 42 | Non-immune hydrops fetalis | Enrichment | HRAS, KRAS | 3.98 |
| 43 | Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss | Enrichment | ATP6V0A4, ATP6V1B1 | 3.97 |
| 44 | Deafness, onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome | Enrichment | ATP6V1B2, ATP6V1C1 | 3.97 |
| 45 | Maturity-onset diabetes of the young, type 10 | Enrichment | INS | 3.83 |
| 46 | Hyperproinsulinemia | Enrichment | INS | 3.83 |
| 47 | Diabetes mellitus, permanent neonatal, 4 | Enrichment | INS | 3.83 |
| 48 | Holoprosencephaly 1 | Enrichment | FGF8, FGFR1 | 3.82 |
| 49 | Leukemia, acute myeloid | Enrichment | KRAS, NRAS | 3.75 |
| 50 | Breast adenocarcinoma | Enrichment | KRAS, PIK3CA | 3.74 |
| 51 | Hemihyperplasia, isolated | Enrichment | IGF2, PIK3CA | 3.67 |
| 52 | Type 1 diabetes mellitus 2 | Enrichment | INS | 3.66 |
| 53 | 46,xy disorder of sex development | Enrichment | FGFR3, INSR | 3.64 |
| 54 | Capillary malformation-arteriovenous malformation 1 | Enrichment | KRAS, PIK3CA | 3.59 |
| 55 | Gallbladder cancer | Enrichment | KRAS, PIK3CA | 3.59 |
| 56 | Pilomyxoid astrocytoma | Enrichment | FGFR1, KRAS | 3.59 |
| 57 | Neonatal diabetes mellitus | Enrichment | INS | 3.53 |
| 58 | Donohue syndrome | Enrichment | INSR | 3.43 |
| 59 | Hyperinsulinemic hypoglycemia, familial, 5 | Enrichment | INSR | 3.43 |
| 60 | Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities | Enrichment | INSR | 3.43 |
| 61 | Diabetes mellitus, insulin-resistant, with acanthosis nigricans | Enrichment | INSR | 3.43 |
| 62 | Silver-russell syndrome due to maternal uniparental disomy of chromosome 7 | Enrichment | GRB10 | 3.43 |
| 63 | Arteriovenous malformation | Enrichment | HRAS, PIK3CA | 3.36 |
| 64 | Type 1 diabetes mellitus | Enrichment | INS | 3.35 |
| 65 | Gastric cancer | Enrichment | FGFR2, KRAS, PIK3CA | 3.33 |
| 66 | Oculoectodermal syndrome | Enrichment | KRAS | 3.29 |
| 67 | Noonan syndrome 4 | Enrichment | SOS1 | 3.29 |
| 68 | Melanosis, neurocutaneous | Enrichment | NRAS | 3.29 |
| 69 | Noonan syndrome 6 | Enrichment | NRAS | 3.29 |
| 70 | Cardiofaciocutaneous syndrome 2 | Enrichment | KRAS | 3.29 |
| 71 | Congenital pulmonary airway malformation | Enrichment | KRAS | 3.29 |
| 72 | Phakomatosis pigmentokeratotica | Enrichment | HRAS | 3.29 |
| 73 | Neurocutaneous melanocytosis | Enrichment | NRAS | 3.29 |
| 74 | Autosomal recessive distal renal tubular acidosis | Enrichment | ATP6V0A4, ATP6V1B1 | 3.27 |
| 75 | Myopathy, x-linked, with excessive autophagy | Enrichment | HRAS, PIK3CA | 3.27 |
| 76 | Permanent neonatal diabetes mellitus | Enrichment | INS | 3.23 |
| 77 | Hyperinsulinemic hypoglycemia, familial, 4 | Enrichment | INSR | 3.13 |
| 78 | Noonan syndrome 13 | Enrichment | MAPK1 | 3.13 |
| 79 | Male infertility with azoospermia or oligozoospermia due to single gene mutation | Enrichment | FGF8, KLB, PTPN11 | 3.11 |
| 80 | Lip and oral cavity carcinoma | Enrichment | HRAS, PIK3CA | 3.10 |
| 81 | Diabetes mellitus | Enrichment | INS | 3.09 |
| 82 | Specific learning disability | Enrichment | MAPK1, PTPN11 | 3.08 |
| 83 | Fibromatosis, gingival, 1 | Enrichment | SOS1 | 2.99 |
| 84 | Costello syndrome | Enrichment | HRAS | 2.99 |
| 85 | Pulmonic stenosis | Enrichment | SOS1 | 2.99 |
| 86 | Wooly hair nevus | Enrichment | HRAS | 2.99 |
| 87 | Breast cancer | Enrichment | KRAS, SHC1 | 2.98 |
| 88 | Lung cancer susceptibility 3 | Enrichment | FGF10, KRAS | 2.96 |
| 89 | Nk-cell enteropathy | Enrichment | IGF1R, PIK3CB | 2.96 |
| 90 | Gliosarcoma | Enrichment | FGFR1, FGFR3 | 2.92 |
| 91 | Microform holoprosencephaly | Enrichment | FGF8, FGFR1 | 2.92 |
| 92 | Lobar holoprosencephaly | Enrichment | FGF8, FGFR1 | 2.92 |
| 93 | Lynch syndrome | Enrichment | KRAS, PIK3CA | 2.90 |
| 94 | Silver-russell syndrome 3 | Enrichment | IGF2 | 2.88 |
| 95 | Growth delay due to insulin-like growth factor type 1 deficiency | Enrichment | IGF1 | 2.88 |
| 96 | Silver-russell syndrome due to an imprinting defect of 11p15 | Enrichment | IGF2 | 2.88 |
| 97 | Silver-russell syndrome due to 11p15 microduplication | Enrichment | IGF2 | 2.88 |
| 98 | Giant cell glioblastoma | Enrichment | FGFR1, FGFR3 | 2.87 |
| 99 | Maturity-onset diabetes of the young | Enrichment | INS | 2.83 |
| 100 | Semilobar holoprosencephaly | Enrichment | FGF8, FGFR1 | 2.82 |
| 101 | Nuchal bleb, familial | Enrichment | SOS1 | 2.81 |
| 102 | Langerhans cell histiocytosis | Enrichment | NRAS | 2.81 |
| 103 | Craniosynostosis | Enrichment | FGFR2, FGFR3 | 2.73 |
| 104 | Growth delay due to insulin-like growth factor i resistance | Enrichment | IGF1R | 2.70 |
| 105 | Beckwith-wiedemann syndrome due to imprinting defect of 11p15 | Enrichment | IGF2 | 2.70 |
| 106 | Cardiofaciocutaneous syndrome 1 | Enrichment | KRAS | 2.69 |
| 107 | Diffuse gastric and lobular breast cancer syndrome | Enrichment | KRAS | 2.69 |
| 108 | Cardiofaciocutaneous syndrome | Enrichment | KRAS | 2.69 |
| 109 | Lung sarcomatoid carcinoma | Enrichment | KRAS | 2.69 |
| 110 | Pilocytic astrocytoma | Enrichment | KRAS | 2.69 |
| 111 | Epidermolytic nevus | Enrichment | HRAS | 2.69 |
| 112 | Gingival fibromatosis | Enrichment | SOS1 | 2.69 |
| 113 | Endometrial cancer | Enrichment | FGFR2, PIK3CA | 2.68 |
| 114 | Cutis laxa | Enrichment | ATP6V0A2, ATP6V1E1 | 2.64 |
| 115 | Silver-russell syndrome due to a point mutation | Enrichment | IGF2 | 2.58 |
| 116 | Chromosome 22q11.2 deletion syndrome, distal | Enrichment | MAPK1 | 2.53 |
| 117 | Hypochondroplasia | Enrichment | FGFR3 | 2.49 |
| 118 | Macrodactyly | Enrichment | PIK3CA | 2.49 |
| 119 | Beare-stevenson cutis gyrata syndrome | Enrichment | FGFR2 | 2.49 |
| 120 | Osteoglophonic dysplasia | Enrichment | FGFR1 | 2.49 |
| 121 | Metachondromatosis | Enrichment | PTPN11 | 2.49 |
| 122 | Thanatophoric dysplasia, type i | Enrichment | FGFR3 | 2.49 |
| 123 | Trigonocephaly 1 | Enrichment | FGFR1 | 2.49 |
| 124 | Hypoinsulinemic hypoglycemia with hemihypertrophy | Enrichment | AKT2 | 2.49 |
| 125 | Muenke syndrome | Enrichment | FGFR3 | 2.49 |
| 126 | Deafness, autosomal recessive 26 | Enrichment | GAB1 | 2.49 |
| 127 | Scaphocephaly, maxillary retrusion, and impaired intellectual development | Enrichment | FGFR2 | 2.49 |
| 128 | Megalencephaly, autosomal dominant | Enrichment | PIK3CA | 2.49 |
| 129 | Apert syndrome | Enrichment | FGFR2 | 2.49 |
| 130 | Leopard syndrome 1 | Enrichment | PTPN11 | 2.49 |
| 131 | Cowden syndrome 5 | Enrichment | PIK3CA | 2.49 |
| 132 | Thanatophoric dysplasia, type ii | Enrichment | FGFR3 | 2.49 |
| 133 | Hypogonadotropic hypogonadism 20 with or without anosmia | Enrichment | FGF17 | 2.49 |
| 134 | Camptodactyly, tall stature, and hearing loss syndrome | Enrichment | FGFR3 | 2.49 |
| 135 | Aplasia of lacrimal and salivary glands | Enrichment | FGF10 | 2.49 |
| 136 | Bent bone dysplasia syndrome 1 | Enrichment | FGFR2 | 2.49 |
| 137 | Cerebral cavernous malformations 4 | Enrichment | PIK3CA | 2.49 |
| 138 | Tumoral calcinosis, hyperphosphatemic, familial, 3 | Enrichment | KL | 2.49 |
| 139 | Short syndrome | Enrichment | PIK3R1 | 2.49 |
| 140 | Metacarpal 4-5 fusion | Enrichment | FGF16 | 2.49 |
| 141 | Lacrimoauriculodentodigital syndrome 3 | Enrichment | FGF10 | 2.49 |
| 142 | Familial isolated trichomegaly | Enrichment | FGF5 | 2.49 |
| 143 | Crouzon syndrome with acanthosis nigricans | Enrichment | FGFR3 | 2.49 |
| 144 | Hemifacial myohyperplasia | Enrichment | PIK3CA | 2.49 |
| 145 | Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth | Enrichment | PIK3CA | 2.49 |
| 146 | Multiple synostoses syndrome 3 | Enrichment | FGF9 | 2.49 |
| 147 | Immunodeficiency 36 with lymphoproliferation | Enrichment | PIK3R1 | 2.49 |
| 148 | Agammaglobulinemia 7, autosomal recessive | Enrichment | PIK3R1 | 2.49 |
| 149 | Acute myeloid leukemia with minimal differentiation | Enrichment | FLT3 | 2.49 |
| 150 | Hypogonadotropic hypogonadism 6 with or without anosmia | Enrichment | FGF8 | 2.49 |
| 151 | Achondroplasia, severe, with developmental delay and acanthosis nigricans | Enrichment | FGFR3 | 2.49 |
| 152 | Tumoral calcinosis, hyperphosphatemic, familial, 2 | Enrichment | FGF23 | 2.49 |
| 153 | Hartsfield syndrome | Enrichment | FGFR1 | 2.49 |
| 154 | Renal hypodysplasia/aplasia 2 | Enrichment | FGF20 | 2.49 |
| 155 | Segmental progressive overgrowth syndrome with fibroadipose hyperplasia | Enrichment | PIK3CA | 2.49 |
| 156 | Lacrimoauriculodentodigital syndrome 2 | Enrichment | FGFR3 | 2.49 |
| 157 | Immunodeficiency 125 | Enrichment | FLT3LG | 2.49 |
| 158 | Short-rib thoracic dysplasia 22 without polydactyly | Enrichment | FGF4 | 2.49 |
| 159 | Hypospadias | Enrichment | PIK3CA | 2.49 |
| 160 | Rare venous malformation | Enrichment | PIK3CA | 2.49 |
| 161 | Diaphragmatic eventration | Enrichment | PIK3CA | 2.49 |
| 162 | Fgfr3-related chondrodysplasia | Enrichment | FGFR3 | 2.49 |
| 163 | Pik3ca-related overgrowth spectrum | Enrichment | PIK3CA | 2.49 |
| 164 | Camptodactyly-tall stature-scoliosis-hearing loss syndrome | Enrichment | FGFR3 | 2.49 |
| 165 | Rare combined vascular malformation | Enrichment | PIK3CA | 2.49 |
| 166 | Cavernous lymphangioma | Enrichment | PIK3CA | 2.49 |
| 167 | Pik3ca-related overgrowth syndrome | Enrichment | PIK3CA | 2.49 |
| 168 | Hartsfield-bixler-demyer syndrome | Enrichment | FGFR1 | 2.49 |
| 169 | Hemihyperplasia-multiple lipomatosis syndrome | Enrichment | PIK3CA | 2.49 |
| 170 | Eccrine angiomatous hamartoma | Enrichment | PIK3CA | 2.49 |
| 171 | Non-syndromic unicoronal craniosynostosis | Enrichment | FGFR2 | 2.49 |
| 172 | Interstitial lung disease specific to childhood | Enrichment | FGF10 | 2.49 |
| 173 | Macrodactyly of toe | Enrichment | PIK3CA | 2.49 |
| 174 | Akt2-related familial partial lipodystrophy | Enrichment | AKT2 | 2.49 |
| 175 | Malignant astrocytoma | Enrichment | PTPN11 | 2.49 |
| 176 | Hydrops fetalis, nonimmune | Enrichment | HRAS, PTPN11 | 2.42 |
| 177 | Hypothyroidism, congenital, nongoitrous, 9 | Enrichment | IRS4 | 2.42 |
| 178 | Silver-russell syndrome 1 | Enrichment | IGF2 | 2.33 |
| 179 | Lung cancer | Enrichment | KRAS, PIK3CA | 2.25 |
| 180 | Deafness, congenital, with onychodystrophy, autosomal dominant | Enrichment | ATP6V1B2 | 2.22 |
| 181 | Breasts and/or nipples, aplasia or hypoplasia of, 1 | Enrichment | PTPRF | 2.22 |
| 182 | Cutis laxa, autosomal recessive, type iid | Enrichment | ATP6V1A | 2.22 |
| 183 | Ceroid lipofuscinosis, neuronal, 10 | Enrichment | CTSD | 2.22 |
| 184 | Breasts and/or nipples, aplasia or hypoplasia of, 2 | Enrichment | PTPRF | 2.22 |
| 185 | Zimmermann-laband syndrome 2 | Enrichment | ATP6V1B2 | 2.22 |
| 186 | Cutis laxa, autosomal recessive, type iic | Enrichment | ATP6V1E1 | 2.22 |
| 187 | Developmental and epileptic encephalopathy 104 | Enrichment | ATP6V0A1 | 2.22 |
| 188 | Neurodevelopmental disorder with epilepsy and brain atrophy | Enrichment | ATP6V0A1 | 2.22 |
| 189 | Epilepsy, early-onset, 3, with or without developmental delay | Enrichment | ATP6V0C | 2.22 |
| 190 | Autosomal dominant deafness - onychodystrophy syndrome | Enrichment | ATP6V1B2 | 2.22 |
| 191 | Otodental dysplasia | Enrichment | FGF3 | 2.19 |
| 192 | Trichomegaly | Enrichment | FGF5 | 2.19 |
| 193 | Pulmonary hypoplasia, primary | Enrichment | FGF10 | 2.19 |
| 194 | Cervical cancer | Enrichment | FGFR3 | 2.19 |
| 195 | Vitamin d hydroxylation-deficient rickets, type 1b | Enrichment | PDE3B | 2.19 |
| 196 | Aural atresia, congenital | Enrichment | FGFR2 | 2.19 |
| 197 | Deafness, congenital, with inner ear agenesis, microtia, and microdontia | Enrichment | FGF3 | 2.19 |
| 198 | Noonan syndrome 8 | Enrichment | PIK3CA | 2.19 |
| 199 | Antley-bixler syndrome without genital anomalies or disordered steroidogenesis | Enrichment | FGFR2 | 2.19 |
| 200 | Werner syndrome | Enrichment | PTPN11 | 2.19 |
| 201 | Split hand-foot malformation | Enrichment | FGFR2 | 2.19 |
| 202 | Cervix carcinoma | Enrichment | FGFR3 | 2.19 |
| 203 | Acute myeloid leukemia without maturation | Enrichment | FLT3 | 2.19 |
| 204 | Interfrontal craniofaciosynostosis | Enrichment | FGFR1 | 2.19 |
| 205 | Autosomal dominant nonsyndromic deafness | Enrichment | FGFR2 | 2.19 |
| 206 | Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) | Enrichment | FLT3 | 2.19 |
| 207 | Oculootodental syndrome | Enrichment | FGF3 | 2.19 |
| 208 | Aortic valve disease 1 | Enrichment | SOS1 | 2.17 |
| 209 | Protein-deficiency anemia | Enrichment | NRAS | 2.17 |
| 210 | 46,xy partial gonadal dysgenesis | Enrichment | SOS1 | 2.14 |
| 211 | Rhabdomyosarcoma | Enrichment | HRAS | 2.08 |
| 212 | Achondroplasia | Enrichment | FGFR3 | 2.01 |
| 213 | Hypogonadotropic hypogonadism 2 with or without anosmia | Enrichment | FGFR1 | 2.01 |
| 214 | Larsen syndrome | Enrichment | FGFR3 | 2.01 |
| 215 | Hypophosphatemic rickets, autosomal dominant | Enrichment | FGF23 | 2.01 |
| 216 | Pompe disease, infantile-onset | Enrichment | PIK3CA | 2.01 |
| 217 | Vitamin d hydroxylation-deficient rickets, type 1a | Enrichment | PDE3B | 2.01 |
| 218 | Chromosome 8p11 myeloproliferative syndrome | Enrichment | FGFR1 | 2.01 |
| 219 | Immunodeficiency 14a with lymphoproliferation, autosomal dominant | Enrichment | PIK3R1 | 2.01 |
| 220 | Hamartoma | Enrichment | FGFR3 | 2.01 |
| 221 | Testicular germ cell cancer | Enrichment | FGFR3 | 2.01 |
| 222 | Immunodeficiency 14 | Enrichment | PIK3R1 | 2.01 |
| 223 | Tricuspid valve insufficiency | Enrichment | PTPN11 | 2.01 |
| 224 | Mixed phenotype acute leukemia with t | Enrichment | FLT3 | 2.01 |
| 225 | Testicular cancer | Enrichment | FGFR3 | 2.01 |
| 226 | Keratoacanthoma | Enrichment | PIK3CA | 2.01 |
| 227 | Arteriovenous malformations of the brain | Enrichment | KRAS | 2.01 |
| 228 | Wilms tumor 1 | Enrichment | IGF2 | 2.00 |
| 229 | Hereditary breast carcinoma | Enrichment | KRAS, PIK3CA | 1.98 |
| 230 | Beckwith-wiedemann syndrome | Enrichment | IGF2 | 1.93 |
| 231 | Renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss | Enrichment | ATP6V1B1 | 1.92 |
| 232 | Wrinkly skin syndrome | Enrichment | ATP6V0A2 | 1.92 |
| 233 | Developmental and epileptic encephalopathy 93 | Enrichment | ATP6V1A | 1.92 |
| 234 | Osteopetrosis, autosomal recessive 1 | Enrichment | TCIRG1 | 1.92 |
| 235 | Renal tubular acidosis | Enrichment | ATP6V1B1 | 1.92 |
| 236 | Childhood-onset epilepsy syndrome | Enrichment | ATP6V0C | 1.92 |
| 237 | Hypertelorism | Enrichment | FGFR2, PIK3CA | 1.91 |
| 238 | Pancreatic cancer | Enrichment | KRAS | 1.89 |
| 239 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | Enrichment | PIK3R2 | 1.89 |
| 240 | Multiple synostoses syndrome | Enrichment | FGF9 | 1.89 |
| 241 | Chronic myelomonocytic leukemia | Enrichment | FLT3 | 1.89 |
| 242 | Cerebrovascular disease | Enrichment | PIK3CA | 1.89 |
| 243 | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | Enrichment | PTPN11 | 1.89 |
| 244 | Noonan syndrome with multiple lentigines | Enrichment | PTPN11 | 1.89 |
| 245 | Familial cerebral cavernous malformations | Enrichment | PIK3CA | 1.89 |
| 246 | Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) | Enrichment | FLT3 | 1.89 |
| 247 | Non-syndromic bicoronal craniosynostosis | Enrichment | FGFR3 | 1.89 |
| 248 | Glioma | Enrichment | FGFR2 | 1.89 |
| 249 | Heart, malformation of | Enrichment | MAPK1 | 1.88 |
| 250 | Capillary malformations, congenital | Enrichment | PIK3CA | 1.79 |
| 251 | Lymphoma | Enrichment | PTPN11 | 1.79 |
| 252 | Acute myeloid leukemia with maturation | Enrichment | FLT3 | 1.79 |
| 253 | Hemimegalencephaly | Enrichment | PIK3CA | 1.79 |
| 254 | Acute myeloid leukemia with t(8;21)(q22;q22) translocation | Enrichment | FLT3 | 1.79 |
| 255 | Primary hypereosinophilic syndrome | Enrichment | FGFR1 | 1.79 |
| 256 | Zimmermann-laband syndrome 1 | Enrichment | ATP6V1B2 | 1.74 |
| 257 | Choreoacanthocytosis | Enrichment | TCIRG1 | 1.74 |
| 258 | Cutis laxa, autosomal recessive, type iia | Enrichment | ATP6V0A2 | 1.74 |
| 259 | Neutropenia, severe congenital, 1, autosomal dominant | Enrichment | TCIRG1 | 1.74 |
| 260 | Dysosteosclerosis | Enrichment | TCIRG1 | 1.74 |
| 261 | Osteopetrosis, autosomal recessive 6 | Enrichment | TCIRG1 | 1.74 |
| 262 | Atp6v0a2-related cutis laxa | Enrichment | ATP6V0A2 | 1.74 |
| 263 | Klippel-trenaunay-weber syndrome | Enrichment | PIK3CA | 1.71 |
| 264 | Cowden syndrome 1 | Enrichment | PIK3CA | 1.71 |
| 265 | Split-hand/foot malformation 1 | Enrichment | FGFR2 | 1.71 |
| 266 | Testicular germ cell tumor | Enrichment | FGFR3 | 1.71 |
| 267 | Patent ductus arteriosus | Enrichment | PTPN11 | 1.71 |
| 268 | Overgrowth syndrome | Enrichment | PIK3R1 | 1.65 |
| 269 | Hypophosphatemic rickets | Enrichment | FGF23 | 1.65 |
| 270 | B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) | Enrichment | FLT3 | 1.65 |
| 271 | Autosomal recessive osteopetrosis | Enrichment | TCIRG1 | 1.62 |
| 272 | Intervertebral disc disease | Enrichment | CILP | 1.56 |
| 273 | Hereditary breast ovarian cancer syndrome | Enrichment | KRAS | 1.55 |
| 274 | Orofacial cleft 1 | Enrichment | FGF10 | 1.54 |
| 275 | Atypical chronic myeloid leukemia, bcr-abl1 negative | Enrichment | FLT3 | 1.54 |
| 276 | Adult hepatocellular carcinoma | Enrichment | PIK3CA | 1.54 |
| 277 | Hypogonadotropic hypogonadism | Enrichment | FGFR1 | 1.54 |
| 278 | Cowden syndrome | Enrichment | PIK3CA | 1.54 |
| 279 | Renal agenesis, bilateral | Enrichment | FGF20 | 1.54 |
| 280 | Congenital disorder of glycosylation, type il | Enrichment | ATP6V0A2 | 1.52 |
| 281 | Osteopetrosis | Enrichment | TCIRG1 | 1.52 |
| 282 | Alg9-congenital disorder of glycosylation | Enrichment | ATP6V0A2 | 1.52 |
| 283 | Autosomal dominant severe congenital neutropenia | Enrichment | TCIRG1 | 1.52 |
| 284 | Meier-gorlin syndrome 1 | Enrichment | FGFR2 | 1.50 |
| 285 | Autosomal non-syndromic agammaglobulinemia | Enrichment | PIK3R1 | 1.50 |
| 286 | Primary bone dysplasia | Enrichment | FGFR3 | 1.50 |
| 287 | Pectus excavatum | Enrichment | PTPN11 | 1.45 |
| 288 | Leukemia, acute lymphoblastic | Enrichment | FLT3 | 1.45 |
| 289 | Osteochondrodysplasia | Enrichment | FGFR3 | 1.45 |
| 290 | Epicanthus | Enrichment | PTPN11 | 1.42 |
| 291 | Septooptic dysplasia | Enrichment | FGFR1 | 1.42 |
| 292 | Renal hypodysplasia/aplasia 3 | Enrichment | FGFR3 | 1.42 |
| 293 | Meningioma | Enrichment | PIK3CA | 1.42 |
| 294 | Congenital long qt syndrome | Enrichment | PTPN11 | 1.42 |
| 295 | Microcephaly | Enrichment | ATP6V0A1, MAPK1, PTPN11 | 1.42 |
| 296 | Pulmonary disease, chronic obstructive | Enrichment | PDE3B | 1.38 |
| 297 | Hypogonadotropic hypogonadism 7 with or without anosmia | Enrichment | FGFR1 | 1.35 |
| 298 | Immunodeficiency 47 | Enrichment | ATP6AP1 | 1.32 |
| 299 | Severe congenital neutropenia | Enrichment | TCIRG1 | 1.32 |
| 300 | Hydrocephalus | Enrichment | FGFR2 | 1.32 |
| 301 | Septopreoptic holoprosencephaly | Enrichment | FGF8 | 1.32 |
| 302 | Midline interhemispheric variant of holoprosencephaly | Enrichment | FGF8 | 1.32 |
| 303 | Ovarian cancer | Enrichment | KRAS, PIK3CA | 1.30 |
| 304 | Alobar holoprosencephaly | Enrichment | FGF8 | 1.27 |
| 305 | Patent foramen ovale | Enrichment | PTPN11 | 1.25 |
| 306 | Nephrocalcinosis | Enrichment | ATP6V1B1 | 1.23 |
| 307 | Nephrolithiasis | Enrichment | ATP6V1B1 | 1.23 |
| 308 | Hepatoblastoma | Enrichment | FGFR3 | 1.18 |
| 309 | Hepatocellular carcinoma | Enrichment | PIK3CA | 1.16 |
| 310 | Tooth agenesis | Enrichment | FGFR1 | 1.16 |
| 311 | Precursor t-cell acute lymphoblastic leukemia | Enrichment | FLT3 | 1.14 |
| 312 | Scoliosis | Enrichment | PTPN11 | 1.12 |
| 313 | Strabismus | Enrichment | PTPN11 | 1.08 |
| 314 | Polydactyly, postaxial, type a1 | Enrichment | ATP6V1B1 | 1.06 |
| 315 | Neuronal ceroid lipofuscinosis | Enrichment | CTSD | 1.06 |
| 316 | Prostate cancer | Enrichment | PIK3CA | 1.05 |
| 317 | Long qt syndrome 1 | Enrichment | PTPN11 | 1.03 |
| 318 | Connective tissue disease | Enrichment | FGFR3 | 1.01 |
| 319 | Hypertrophic cardiomyopathy | Enrichment | PTPN11 | 0.88 |
| 320 | Thrombocytopenia | Enrichment | PTPN11 | 0.84 |
| 321 | Non-syndromic x-linked intellectual disability | Enrichment | ATP6AP1 | 0.71 |
| 322 | Sensorineural hearing loss | Enrichment | ATP6V0A4 | 0.60 |
| 323 | Undetermined early-onset epileptic encephalopathy | Enrichment | ATP6V1A | 0.54 |
| 324 | Congenital nervous system abnormality | Enrichment | FGFR3 | 0.53 |
| 325 | Nervous system disease | Enrichment | FGFR3 | 0.53 |
| 326 | Autism spectrum disorder | Enrichment | PTPN11 | 0.52 |
| 327 | Inherited cancer-predisposing syndrome | Enrichment | PTPN11 | 0.46 |
| 328 | Autism | Enrichment | ATP6V0A1 | 0.45 |
| 329 | Rare genetic deafness | Enrichment | ATP6V1B1 | 0.42 |
| 330 | Complex neurodevelopmental disorder | Enrichment | ATP6V0A1 | 0.28 |