| 1 | Alzheimer disease 4 | Enrichment | APOE, PSEN1, PSEN2 | 7.47 |
| 2 | Alzheimer's disease | Enrichment | APOE, APP, MAPT, PSEN1 | 7.13 |
| 3 | Alzheimer disease, familial, 1 | Enrichment | APOE, APP, MAPT, PSEN1 | 6.61 |
| 4 | Primary hypereosinophilic syndrome | Enrichment | FGFR1, PDGFRA, PDGFRB | 6.47 |
| 5 | Early-onset autosomal dominant alzheimer disease | Enrichment | APP, PSEN1, PSEN2 | 5.93 |
| 6 | Bladder cancer | Enrichment | EGFR, ERBB2, ERBB3, FGFR3 | 5.63 |
| 7 | Alzheimer disease 3 | Enrichment | APOE, PSEN1 | 4.97 |
| 8 | Pick disease of brain | Enrichment | MAPT, PSEN1 | 4.97 |
| 9 | Pfeiffer syndrome | Enrichment | FGFR1, FGFR2 | 4.97 |
| 10 | Jackson-weiss syndrome | Enrichment | FGFR1, FGFR2 | 4.97 |
| 11 | Gliosarcoma | Enrichment | EGFR, FGFR1, FGFR3 | 4.73 |
| 12 | Giant cell glioblastoma | Enrichment | EGFR, FGFR1, FGFR3 | 4.65 |
| 13 | Crouzon syndrome | Enrichment | FGFR2, FGFR3 | 4.49 |
| 14 | Lacrimoauriculodentodigital syndrome 1 | Enrichment | FGFR2, FGFR3 | 4.49 |
| 15 | Neonatal inflammatory skin and bowel disease | Enrichment | ADAM17, EGFR | 4.49 |
| 16 | Saethre-chotzen syndrome | Enrichment | FGFR2, FGFR3 | 4.19 |
| 17 | Glioma | Enrichment | FGFR2, NTRK3 | 4.19 |
| 18 | Hemifacial hyperplasia | Enrichment | FGFR2, FGFR3 | 3.97 |
| 19 | Dementia | Enrichment | MAPT, PSEN1 | 3.97 |
| 20 | Lung squamous cell carcinoma | Enrichment | EGFR, FGFR3 | 3.80 |
| 21 | 46,xy disorder of sex development | Enrichment | FGFR3, INSR | 3.80 |
| 22 | Colorectal cancer | Enrichment | ERBB2, FGFR2, FGFR3, SRC | 3.72 |
| 23 | Semantic dementia | Enrichment | MAPT, PSEN1 | 3.65 |
| 24 | Pilomyxoid astrocytoma | Enrichment | FGFR1, NTRK2 | 3.65 |
| 25 | Ovarian cancer | Enrichment | EGFR, ERBB2, NTRK1, PDGFRA | 3.47 |
| 26 | Progressive non-fluent aphasia | Enrichment | MAPT, PSEN1 | 3.42 |
| 27 | Behavioral variant of frontotemporal dementia | Enrichment | MAPT, PSEN1 | 3.42 |
| 28 | Frontotemporal dementia 1 | Enrichment | MAPT, PSEN1 | 3.24 |
| 29 | Lung non-small cell carcinoma | Enrichment | EGFR, ERBB2 | 3.24 |
| 30 | Nk-cell enteropathy | Enrichment | ERBB4, IGF1R | 3.09 |
| 31 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 | Enrichment | ERBB4, MAPT, PSEN1 | 3.03 |
| 32 | Lung cancer susceptibility 3 | Enrichment | EGFR, ERBB2 | 3.02 |
| 33 | Hydrocephalus | Enrichment | FGFR2, PDGFRB | 2.96 |
| 34 | Craniosynostosis | Enrichment | FGFR2, FGFR3 | 2.71 |
| 35 | Erythroleukemia, familial | Enrichment | ERBB3 | 2.48 |
| 36 | Hypochondroplasia | Enrichment | FGFR3 | 2.48 |
| 37 | Beare-stevenson cutis gyrata syndrome | Enrichment | FGFR2 | 2.48 |
| 38 | Paget disease, extramammary | Enrichment | ERBB2 | 2.48 |
| 39 | Osteoglophonic dysplasia | Enrichment | FGFR1 | 2.48 |
| 40 | Thanatophoric dysplasia, type i | Enrichment | FGFR3 | 2.48 |
| 41 | Trigonocephaly 1 | Enrichment | FGFR1 | 2.48 |
| 42 | Atrophoderma vermiculata | Enrichment | LRP1 | 2.48 |
| 43 | Donohue syndrome | Enrichment | INSR | 2.48 |
| 44 | Sea-blue histiocyte disease | Enrichment | APOE | 2.48 |
| 45 | Muenke syndrome | Enrichment | FGFR3 | 2.48 |
| 46 | Premature aging syndrome, penttinen type | Enrichment | PDGFRB | 2.48 |
| 47 | Hyperinsulinemic hypoglycemia, familial, 5 | Enrichment | INSR | 2.48 |
| 48 | Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities | Enrichment | INSR | 2.48 |
| 49 | Diabetes mellitus, insulin-resistant, with acanthosis nigricans | Enrichment | INSR | 2.48 |
| 50 | Hypereosinophilic syndrome, idiopathic | Enrichment | PDGFRA | 2.48 |
| 51 | Scaphocephaly, maxillary retrusion, and impaired intellectual development | Enrichment | FGFR2 | 2.48 |
| 52 | Apert syndrome | Enrichment | FGFR2 | 2.48 |
| 53 | Lipoprotein glomerulopathy | Enrichment | APOE | 2.48 |
| 54 | Keratosis pilaris atrophicans | Enrichment | LRP1 | 2.48 |
| 55 | Myofibromatosis, infantile, 1 | Enrichment | PDGFRB | 2.48 |
| 56 | Thanatophoric dysplasia, type ii | Enrichment | FGFR3 | 2.48 |
| 57 | Lethal congenital contracture syndrome 2 | Enrichment | ERBB3 | 2.48 |
| 58 | Gist-plus syndrome | Enrichment | PDGFRA | 2.48 |
| 59 | Camptodactyly, tall stature, and hearing loss syndrome | Enrichment | FGFR3 | 2.48 |
| 60 | Lissencephaly 7 with cerebellar hypoplasia | Enrichment | CDK5 | 2.48 |
| 61 | Autoimmune lymphoproliferative syndrome, type iii | Enrichment | PRKCD | 2.48 |
| 62 | Bent bone dysplasia syndrome 1 | Enrichment | FGFR2 | 2.48 |
| 63 | Visceral neuropathy, familial, 2, autosomal recessive | Enrichment | ERBB2 | 2.48 |
| 64 | Noonan syndrome 13 | Enrichment | MAPK1 | 2.48 |
| 65 | Developmental and epileptic encephalopathy 58 | Enrichment | NTRK2 | 2.48 |
| 66 | Parkinson-dementia syndrome | Enrichment | MAPT | 2.48 |
| 67 | Myeloid and lymphoid neoplasms associated with pdgfra rearrangement | Enrichment | PDGFRA | 2.48 |
| 68 | Supranuclear palsy, progressive, 1 | Enrichment | MAPT | 2.48 |
| 69 | Cardiomyopathy, dilated, 1v | Enrichment | PSEN2 | 2.48 |
| 70 | Alzheimer disease 18 | Enrichment | ADAM10 | 2.48 |
| 71 | Crouzon syndrome with acanthosis nigricans | Enrichment | FGFR3 | 2.48 |
| 72 | Progressive supranuclear palsy | Enrichment | MAPT | 2.48 |
| 73 | Spinocerebellar ataxia 14 | Enrichment | PRKCG | 2.48 |
| 74 | Cerebral amyloid angiopathy, app-related | Enrichment | APP | 2.48 |
| 75 | Cardiomyopathy, dilated, 1u | Enrichment | PSEN1 | 2.48 |
| 76 | Basal ganglia calcification, idiopathic, 4 | Enrichment | PDGFRB | 2.48 |
| 77 | Amyotrophic lateral sclerosis 19 | Enrichment | ERBB4 | 2.48 |
| 78 | Reticulate acropigmentation of kitamura | Enrichment | ADAM10 | 2.48 |
| 79 | Myeloid and lymphoid neoplasms associated with pdgfrb rearrangement | Enrichment | PDGFRB | 2.48 |
| 80 | Obesity, hyperphagia, and developmental delay | Enrichment | NTRK2 | 2.48 |
| 81 | Acne inversa, familial, 3 | Enrichment | PSEN1 | 2.48 |
| 82 | Achondroplasia, severe, with developmental delay and acanthosis nigricans | Enrichment | FGFR3 | 2.48 |
| 83 | Kosaki overgrowth syndrome | Enrichment | PDGFRB | 2.48 |
| 84 | Congenital heart defects and ectodermal dysplasia | Enrichment | PRKD1 | 2.48 |
| 85 | Hartsfield syndrome | Enrichment | FGFR1 | 2.48 |
| 86 | Thrombocytopenia 6 | Enrichment | SRC | 2.48 |
| 87 | Classic progressive supranuclear palsy syndrome | Enrichment | MAPT | 2.48 |
| 88 | Ocular pterygium-digital keloid dysplasia syndrome | Enrichment | PDGFRB | 2.48 |
| 89 | Lacrimoauriculodentodigital syndrome 2 | Enrichment | FGFR3 | 2.48 |
| 90 | Atypical progressive supranuclear palsy syndrome | Enrichment | MAPT | 2.48 |
| 91 | Fgfr3-related chondrodysplasia | Enrichment | FGFR3 | 2.48 |
| 92 | Camptodactyly-tall stature-scoliosis-hearing loss syndrome | Enrichment | FGFR3 | 2.48 |
| 93 | Huntington's disease-like | Enrichment | PSEN2 | 2.48 |
| 94 | Malignant epithelial tumor of salivary glands | Enrichment | PRKD1 | 2.48 |
| 95 | Hartsfield-bixler-demyer syndrome | Enrichment | FGFR1 | 2.48 |
| 96 | Non-syndromic unicoronal craniosynostosis | Enrichment | FGFR2 | 2.48 |
| 97 | Serous carcinoma of the corpus uteri | Enrichment | ERBB2 | 2.48 |
| 98 | Hirschsprung disease 1 | Enrichment | ERBB2, ERBB3 | 2.38 |
| 99 | Differentiated thyroid carcinoma | Enrichment | NTRK1, NTRK3 | 2.38 |
| 100 | Lung cancer | Enrichment | EGFR, ERBB2 | 2.30 |
| 101 | Cerebral amyloid angiopathy, cst3-related | Enrichment | APP | 2.18 |
| 102 | Myeloproliferative disorder, chronic, with eosinophilia | Enrichment | PDGFRB | 2.18 |
| 103 | Insensitivity to pain, congenital, with anhidrosis | Enrichment | NTRK1 | 2.18 |
| 104 | Visceral neuropathy, familial, 1, autosomal recessive | Enrichment | ERBB3 | 2.18 |
| 105 | Cervical cancer | Enrichment | FGFR3 | 2.18 |
| 106 | Hyperinsulinemic hypoglycemia, familial, 4 | Enrichment | INSR | 2.18 |
| 107 | Aural atresia, congenital | Enrichment | FGFR2 | 2.18 |
| 108 | Keratosis, seborrheic | Enrichment | FGFR3 | 2.18 |
| 109 | Encephalocraniocutaneous lipomatosis | Enrichment | FGFR1 | 2.18 |
| 110 | Spastic paraplegia 76, autosomal recessive | Enrichment | CAPN1 | 2.18 |
| 111 | Pain sensitivity quantitative trait locus 1 | Enrichment | NTRK1 | 2.18 |
| 112 | Antley-bixler syndrome without genital anomalies or disordered steroidogenesis | Enrichment | FGFR2 | 2.18 |
| 113 | Developmental dysplasia of the hip 3 | Enrichment | LRP1 | 2.18 |
| 114 | Hyperlipoproteinemia, type iii | Enrichment | APOE | 2.18 |
| 115 | Infantile myofibromatosis | Enrichment | PDGFRB | 2.18 |
| 116 | Split hand-foot malformation | Enrichment | FGFR2 | 2.18 |
| 117 | Rosette-forming glioneuronal tumor | Enrichment | FGFR1 | 2.18 |
| 118 | Congenital mesoblastic nephroma | Enrichment | NTRK3 | 2.18 |
| 119 | Inflammatory skin and bowel disease, neonatal, 1 | Enrichment | ADAM17 | 2.18 |
| 120 | Cervix carcinoma | Enrichment | FGFR3 | 2.18 |
| 121 | Fibrosarcoma | Enrichment | NTRK3 | 2.18 |
| 122 | Interfrontal craniofaciosynostosis | Enrichment | FGFR1 | 2.18 |
| 123 | Autosomal dominant nonsyndromic deafness | Enrichment | FGFR2 | 2.18 |
| 124 | Chronic eosinophilic leukemia | Enrichment | PDGFRA | 2.18 |
| 125 | B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality | Enrichment | PDGFRA | 2.18 |
| 126 | Gastric cancer | Enrichment | ERBB2, FGFR2 | 2.05 |
| 127 | Achondroplasia | Enrichment | FGFR3 | 2.00 |
| 128 | Hypogonadotropic hypogonadism 2 with or without anosmia | Enrichment | FGFR1 | 2.00 |
| 129 | Larsen syndrome | Enrichment | FGFR3 | 2.00 |
| 130 | Thyroid carcinoma, familial medullary | Enrichment | NTRK1 | 2.00 |
| 131 | Stuve-wiedemann syndrome 1 | Enrichment | LIFR | 2.00 |
| 132 | Chromosome 8p11 myeloproliferative syndrome | Enrichment | FGFR1 | 2.00 |
| 133 | Neonatal nephrocutaneous inflammatory syndrome | Enrichment | EGFR | 2.00 |
| 134 | Keratosis follicularis spinulosa decalvans | Enrichment | LRP1 | 2.00 |
| 135 | Primary polycythemia | Enrichment | EPOR | 2.00 |
| 136 | Hamartoma | Enrichment | FGFR3 | 2.00 |
| 137 | Testicular germ cell cancer | Enrichment | FGFR3 | 2.00 |
| 138 | Spermatocytoma | Enrichment | FGFR3 | 2.00 |
| 139 | Growth delay due to insulin-like growth factor i resistance | Enrichment | IGF1R | 2.00 |
| 140 | Stüve-wiedemann syndrome | Enrichment | LIFR | 2.00 |
| 141 | Testicular cancer | Enrichment | FGFR3 | 2.00 |
| 142 | Erythrocytosis, familial, 1 | Enrichment | EPOR | 1.88 |
| 143 | Dowling-degos disease 1 | Enrichment | ADAM10 | 1.88 |
| 144 | Macular degeneration, age-related, 1 | Enrichment | APOE | 1.88 |
| 145 | Chromosome 22q11.2 deletion syndrome, distal | Enrichment | MAPK1 | 1.88 |
| 146 | Barrett esophagus | Enrichment | ERBB2 | 1.88 |
| 147 | Hereditary ataxia | Enrichment | PRKCG | 1.88 |
| 148 | Non-syndromic bicoronal craniosynostosis | Enrichment | FGFR3 | 1.88 |
| 149 | Familial isolated dilated cardiomyopathy | Enrichment | PSEN1, PSEN2 | 1.88 |
| 150 | Alzheimer disease 2 | Enrichment | APOE | 1.78 |
| 151 | Insulin-like growth factor i | Enrichment | IGF1R | 1.78 |
| 152 | Holoprosencephaly | Enrichment | FGFR1 | 1.78 |
| 153 | Cowden syndrome 1 | Enrichment | EGFR | 1.70 |
| 154 | Telangiectasia, hereditary hemorrhagic, type 1 | Enrichment | PSEN1 | 1.70 |
| 155 | Split-hand/foot malformation 1 | Enrichment | FGFR2 | 1.70 |
| 156 | Holoprosencephaly 1 | Enrichment | FGFR1 | 1.70 |
| 157 | Testicular germ cell tumor | Enrichment | FGFR3 | 1.70 |
| 158 | Lipid metabolism disorder | Enrichment | APOE | 1.70 |
| 159 | Nevus, epidermal | Enrichment | FGFR3 | 1.64 |
| 160 | Myelofibrosis | Enrichment | SRC | 1.64 |
| 161 | Squamous cell carcinoma, head and neck | Enrichment | EGFR | 1.64 |
| 162 | Gastrointestinal stromal tumor | Enrichment | PDGFRA | 1.64 |
| 163 | Neuropathy, hereditary sensory and autonomic, type v | Enrichment | NTRK1 | 1.64 |
| 164 | Alzheimer's disease 1 | Enrichment | APP | 1.64 |
| 165 | Glioma susceptibility 1 | Enrichment | ERBB2 | 1.58 |
| 166 | Basal ganglia calcification, idiopathic, 1 | Enrichment | PDGFRB | 1.58 |
| 167 | Inflammatory bowel disease 1 | Enrichment | PRKCQ | 1.53 |
| 168 | Hypogonadotropic hypogonadism | Enrichment | FGFR1 | 1.53 |
| 169 | Meier-gorlin syndrome 1 | Enrichment | FGFR2 | 1.49 |
| 170 | Stroke, ischemic | Enrichment | PRKCH | 1.49 |
| 171 | Primary bone dysplasia | Enrichment | FGFR3 | 1.49 |
| 172 | Osteochondrodysplasia | Enrichment | FGFR3 | 1.44 |
| 173 | Specific learning disability | Enrichment | MAPK1 | 1.44 |
| 174 | Septooptic dysplasia | Enrichment | FGFR1 | 1.41 |
| 175 | Renal hypodysplasia/aplasia 3 | Enrichment | FGFR3 | 1.41 |
| 176 | Lip and oral cavity carcinoma | Enrichment | EGFR | 1.41 |
| 177 | Chromosome 1p36 deletion syndrome | Enrichment | PRKCZ | 1.37 |
| 178 | Hypogonadotropic hypogonadism 7 with or without anosmia | Enrichment | FGFR1 | 1.34 |
| 179 | Osteoporosis | Enrichment | SRC | 1.34 |
| 180 | Cleft lip/palate | Enrichment | PDGFRA | 1.34 |
| 181 | Congenital nervous system abnormality | Enrichment | FGFR3, PSEN1 | 1.32 |
| 182 | Nervous system disease | Enrichment | FGFR3, PSEN1 | 1.32 |
| 183 | Familial hypercholesterolemia | Enrichment | APOE | 1.31 |
| 184 | Microform holoprosencephaly | Enrichment | FGFR1 | 1.29 |
| 185 | Lobar holoprosencephaly | Enrichment | FGFR1 | 1.29 |
| 186 | Dandy-walker syndrome | Enrichment | PDGFRB | 1.26 |
| 187 | Heart, malformation of | Enrichment | MAPK1 | 1.24 |
| 188 | Semilobar holoprosencephaly | Enrichment | FGFR1 | 1.24 |
| 189 | Normosmic congenital hypogonadotropic hypogonadism | Enrichment | FGFR1 | 1.24 |
| 190 | Arteriovenous malformations of the brain | Enrichment | EGFR | 1.21 |
| 191 | Microcephaly | Enrichment | IGF1R, MAPK1 | 1.20 |
| 192 | Endometrial cancer | Enrichment | FGFR2 | 1.17 |
| 193 | Hepatoblastoma | Enrichment | FGFR3 | 1.17 |
| 194 | Tooth agenesis | Enrichment | FGFR1 | 1.15 |
| 195 | Inherited cancer-predisposing syndrome | Enrichment | EGFR, PDGFRA | 1.15 |
| 196 | Kallmann syndrome | Enrichment | FGFR1 | 1.13 |
| 197 | Parkinson disease, late-onset | Enrichment | MAPT | 1.12 |
| 198 | Connective tissue disease | Enrichment | FGFR3 | 1.00 |
| 199 | Cakut | Enrichment | LIFR | 0.97 |
| 200 | Cerebral palsy | Enrichment | PDGFRB | 0.91 |
| 201 | Type 2 diabetes mellitus | Enrichment | INSR | 0.88 |
| 202 | West syndrome | Enrichment | NTRK2 | 0.87 |
| 203 | Thrombocytopenia | Enrichment | SRC | 0.83 |
| 204 | Autosomal dominant non-syndromic intellectual disability | Enrichment | ERBB4 | 0.81 |
| 205 | Hypertelorism | Enrichment | FGFR2 | 0.80 |
| 206 | Myeloma, multiple | Enrichment | FGFR3 | 0.77 |
| 207 | Undetermined early-onset epileptic encephalopathy | Enrichment | NTRK2 | 0.77 |
| 208 | Primary ovarian insufficiency | Enrichment | NTRK1 | 0.75 |