| 1 | Stickler syndrome | Enrichment | COL2A1, COL9A1, COL9A2, COL9A3 | 7.78 |
| 2 | Multiple epiphyseal dysplasia due to collagen 9 anomaly | Enrichment | COL9A1, COL9A2, COL9A3 | 7.56 |
| 3 | Collagen vi-related dystrophies | Enrichment | COL6A1, COL6A2, COL6A3 | 7.56 |
| 4 | Intermediate collagen vi-related muscular dystrophy | Enrichment | COL6A1, COL6A2, COL6A3 | 7.56 |
| 5 | Digenic alport syndrome | Enrichment | COL4A3, COL4A4, COL4A5 | 7.56 |
| 6 | Autosomal recessive stickler syndrome | Enrichment | COL9A1, COL9A2, COL9A3 | 6.96 |
| 7 | Bethlem muscular dystrophy | Enrichment | COL6A1, COL6A2, COL6A3 | 6.96 |
| 8 | Alport syndrome 3a, autosomal dominant | Enrichment | COL4A3, COL4A4, COL4A5 | 6.56 |
| 9 | Ullrich congenital muscular dystrophy 1a | Enrichment | COL6A1, COL6A2, COL6A3 | 6.56 |
| 10 | Autosomal dominant alport syndrome | Enrichment | COL4A3, COL4A4, COL4A5 | 6.56 |
| 11 | Alport syndrome | Enrichment | COL4A3, COL4A4, COL4A5 | 6.56 |
| 12 | Schimmelpenning-feuerstein-mims syndrome | Enrichment | HRAS, KRAS, NRAS | 6.42 |
| 13 | Noonan syndrome and noonan-related syndrome | Enrichment | HRAS, KRAS, NRAS, SOS1 | 6.26 |
| 14 | Bethlem myopathy 1a | Enrichment | COL6A1, COL6A2, COL6A3 | 6.02 |
| 15 | Connective tissue disease | Enrichment | COL2A1, COL5A1, COL9A1, COL9A3 | 5.57 |
| 16 | Nevus, epidermal | Enrichment | HRAS, KRAS, NRAS | 5.48 |
| 17 | Noonan syndrome 3 | Enrichment | HRAS, KRAS, SOS1 | 5.48 |
| 18 | Noonan syndrome 1 | Enrichment | HRAS, KRAS, NRAS, SOS1 | 5.46 |
| 19 | Rasopathy | Enrichment | HRAS, KRAS, NRAS, SOS1 | 5.23 |
| 20 | Kidney disease | Enrichment | COL4A3, COL4A4, COL4A5 | 4.91 |
| 21 | Lung non-small cell carcinoma | Enrichment | HRAS, KRAS, NRAS | 4.81 |
| 22 | Pyropoikilocytosis, hereditary | Enrichment | SPTA1, SPTB | 4.67 |
| 23 | Encephalocraniocutaneous lipomatosis | Enrichment | FGFR1, KRAS | 4.67 |
| 24 | Ras-associated autoimmune leukoproliferative disorder | Enrichment | KRAS, NRAS | 4.67 |
| 25 | Ehlers-danlos syndrome | Enrichment | COL3A1, COL5A1, COL5A2 | 4.59 |
| 26 | Protein-deficiency anemia | Enrichment | NRAS, SPTA1, SPTB | 4.58 |
| 27 | Hematuria, benign familial, 1 | Enrichment | COL4A3, COL4A4 | 4.55 |
| 28 | Ehlers-danlos syndrome, classic type, 2 | Enrichment | COL5A1, COL5A2 | 4.55 |
| 29 | Brain small vessel disease 1 with or without ocular anomalies | Enrichment | COL4A1, COL4A2 | 4.25 |
| 30 | Alport syndrome 2, autosomal recessive | Enrichment | COL4A3, COL4A4 | 4.25 |
| 31 | Autosomal recessive alport syndrome | Enrichment | COL4A3, COL4A4 | 4.25 |
| 32 | Large congenital melanocytic nevus | Enrichment | HRAS, NRAS | 4.20 |
| 33 | Retinal detachment | Enrichment | COL2A1, COL9A3 | 4.03 |
| 34 | Familial porencephaly | Enrichment | COL4A1, COL4A2 | 4.03 |
| 35 | Chronic myelogenous leukemia, bcr-abl1 positive | Enrichment | KRAS, NRAS | 3.90 |
| 36 | Hereditary elliptocytosis | Enrichment | SPTA1, SPTB | 3.90 |
| 37 | Ehlers-danlos syndrome, classic type, 1 | Enrichment | COL5A1, COL5A2 | 3.86 |
| 38 | Hemorrhage, intracerebral | Enrichment | COL4A1, COL4A2 | 3.86 |
| 39 | Keratoconus | Enrichment | COL4A1, COL5A2 | 3.86 |
| 40 | Classic ehlers-danlos syndrome | Enrichment | COL5A1, COL5A2 | 3.86 |
| 41 | Intervertebral disc disease | Enrichment | COL9A2, COL9A3 | 3.71 |
| 42 | Cerebral palsy | Enrichment | CACNA1C, COL4A1, COL4A2 | 3.63 |
| 43 | Myopathy | Enrichment | COL6A1, COL6A2, COL6A3 | 3.60 |
| 44 | Nephrotic syndrome | Enrichment | COL4A3, COL4A4, COL4A5 | 3.51 |
| 45 | Hereditary spherocytosis | Enrichment | SPTA1, SPTB | 3.50 |
| 46 | Differentiated thyroid carcinoma | Enrichment | HRAS, KRAS, NRAS | 3.49 |
| 47 | Familial thoracic aortic aneurysm and aortic dissection | Enrichment | COL3A1, COL5A1, COL5A2 | 3.48 |
| 48 | Thyroid cancer, nonmedullary, 2 | Enrichment | HRAS, NRAS | 3.36 |
| 49 | Leukemia, chronic myeloid | Enrichment | KRAS, NRAS | 3.36 |
| 50 | Pilomyxoid astrocytoma | Enrichment | FGFR1, KRAS | 3.36 |
| 51 | Follicular thyroid carcinoma | Enrichment | HRAS, NRAS | 3.36 |
| 52 | Hemolytic anemia | Enrichment | SPTA1, SPTB | 3.36 |
| 53 | Melanocytic nevus syndrome, congenital | Enrichment | HRAS, NRAS | 3.23 |
| 54 | Chronic kidney disease | Enrichment | COL4A4, COL4A5 | 3.15 |
| 55 | Myopia | Enrichment | COL2A1, COL4A4 | 3.02 |
| 56 | Hypertension | Enrichment | COL4A4, COL4A5 | 2.96 |
| 57 | Juvenile myelomonocytic leukemia | Enrichment | KRAS, NRAS | 2.87 |
| 58 | Focal segmental glomerulosclerosis | Enrichment | COL4A4, COL4A5 | 2.77 |
| 59 | Spastic ataxia | Enrichment | CACNA1G, CACNB4, SPTAN1 | 2.72 |
| 60 | Brugada syndrome | Enrichment | CACNA1C, CACNB2 | 2.54 |
| 61 | Heart, malformation of | Enrichment | COL2A1, MAPK1 | 2.51 |
| 62 | Stickler syndrome, type i | Enrichment | COL2A1 | 2.51 |
| 63 | Epiphyseal dysplasia, multiple, with myopia and conductive deafness | Enrichment | COL2A1 | 2.51 |
| 64 | Thyrotoxic periodic paralysis 1 | Enrichment | CACNA1S | 2.51 |
| 65 | Spondylometaphyseal dysplasia, algerian type | Enrichment | COL2A1 | 2.51 |
| 66 | Alport syndrome 1, x-linked | Enrichment | COL4A5 | 2.51 |
| 67 | Fatal familial insomnia | Enrichment | PRNP | 2.51 |
| 68 | Osteoarthritis with mild chondrodysplasia | Enrichment | COL2A1 | 2.51 |
| 69 | Avascular necrosis of femoral head, primary, 1 | Enrichment | COL2A1 | 2.51 |
| 70 | Czech dysplasia | Enrichment | COL2A1 | 2.51 |
| 71 | Epilepsy, idiopathic generalized 9 | Enrichment | CACNB4 | 2.51 |
| 72 | Brugada syndrome 4 | Enrichment | CACNB2 | 2.51 |
| 73 | Kniest dysplasia | Enrichment | COL2A1 | 2.51 |
| 74 | Platyspondylic lethal skeletal dysplasia, torrance type | Enrichment | COL2A1 | 2.51 |
| 75 | Gerstmann-straussler disease | Enrichment | PRNP | 2.51 |
| 76 | Spondyloepiphyseal dysplasia, stanescu type | Enrichment | COL2A1 | 2.51 |
| 77 | Kuru | Enrichment | PRNP | 2.51 |
| 78 | Episodic ataxia, type 5 | Enrichment | CACNB4 | 2.51 |
| 79 | Acrogeria, gottron type | Enrichment | COL3A1 | 2.51 |
| 80 | Epiphyseal dysplasia, multiple, 6 | Enrichment | COL9A1 | 2.51 |
| 81 | Achondrogenesis, type ii | Enrichment | COL2A1 | 2.51 |
| 82 | Neurodevelopmental disorder with speech impairment and with or without seizures | Enrichment | CACNA1I | 2.51 |
| 83 | Epiphyseal dysplasia, multiple, 2 | Enrichment | COL9A2 | 2.51 |
| 84 | Congenital myopathy 18 | Enrichment | CACNA1S | 2.51 |
| 85 | Ullrich congenital muscular dystrophy 1b | Enrichment | COL6A2 | 2.51 |
| 86 | Spongiform encephalopathy with neuropsychiatric features | Enrichment | PRNP | 2.51 |
| 87 | Spondyloperipheral dysplasia | Enrichment | COL2A1 | 2.51 |
| 88 | Myosclerosis, autosomal recessive | Enrichment | COL6A2 | 2.51 |
| 89 | Porencephaly | Enrichment | COL4A1 | 2.51 |
| 90 | Ullrich congenital muscular dystrophy 1c | Enrichment | COL6A3 | 2.51 |
| 91 | Epiphyseal dysplasia, multiple, 3 | Enrichment | COL9A3 | 2.51 |
| 92 | Huntington disease-like 1 | Enrichment | PRNP | 2.51 |
| 93 | Renal hypodysplasia/aplasia 4 | Enrichment | GFRA1 | 2.51 |
| 94 | Primary aldosteronism, seizures, and neurologic abnormalities | Enrichment | CACNA1D | 2.51 |
| 95 | Brugada syndrome 3 | Enrichment | CACNA1C | 2.51 |
| 96 | Epilepsy, childhood absence 6 | Enrichment | CACNA1H | 2.51 |
| 97 | Malignant hyperthermia 5 | Enrichment | CACNA1S | 2.51 |
| 98 | Stickler syndrome, type i, nonsyndromic ocular | Enrichment | COL2A1 | 2.51 |
| 99 | Stickler syndrome, type iv | Enrichment | COL9A1 | 2.51 |
| 100 | Sinoatrial node dysfunction and deafness | Enrichment | CACNA1D | 2.51 |
| 101 | Familial alzheimer-like prion disease | Enrichment | PRNP | 2.51 |
| 102 | Dystonia 27 | Enrichment | COL6A3 | 2.51 |
| 103 | Hirschsprung disease 3 | Enrichment | GDNF | 2.51 |
| 104 | Spinocerebellar ataxia 42 | Enrichment | CACNA1G | 2.51 |
| 105 | Stickler syndrome, type v | Enrichment | COL9A2 | 2.51 |
| 106 | Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits | Enrichment | CACNA1G | 2.51 |
| 107 | Prion disease | Enrichment | PRNP | 2.51 |
| 108 | Hyperaldosteronism, familial, type iv | Enrichment | CACNA1H | 2.51 |
| 109 | Qualitative or quantitative defects of collagen 6 | Enrichment | COL6A2 | 2.51 |
| 110 | Vitreoretinopathy with phalangeal epiphyseal dysplasia | Enrichment | COL2A1 | 2.51 |
| 111 | Bethlem myopathy 1b | Enrichment | COL6A2 | 2.51 |
| 112 | Col4a1-related disorders | Enrichment | COL4A1 | 2.51 |
| 113 | Bethlem myopathy 1c | Enrichment | COL6A3 | 2.51 |
| 114 | Retinal lattice degeneration | Enrichment | COL9A3 | 2.51 |
| 115 | Conn's syndrome | Enrichment | CACNA1H | 2.51 |
| 116 | Autosomal dominant rhegmatogenous retinal detachment | Enrichment | COL2A1 | 2.51 |
| 117 | Prp systemic amyloidosis | Enrichment | PRNP | 2.51 |
| 118 | Col4a1 or col4a2-related cerebral small vessel disease | Enrichment | COL4A1 | 2.51 |
| 119 | Multiple epiphyseal dysplasia with myopia and deafness | Enrichment | COL2A1 | 2.51 |
| 120 | Hypochondrogenesis | Enrichment | COL2A1 | 2.51 |
| 121 | X-linked alport syndrome | Enrichment | COL4A5 | 2.51 |
| 122 | Pneumothorax | Enrichment | COL5A1 | 2.51 |
| 123 | Atypical timothy syndrome | Enrichment | CACNA1C | 2.51 |
| 124 | Aldosterone-producing adenoma with seizures and neurological abnormalities | Enrichment | CACNA1D | 2.51 |
| 125 | Inherited human prion disease | Enrichment | PRNP | 2.51 |
| 126 | Dysspondyloenchondromatosis | Enrichment | COL2A1 | 2.51 |
| 127 | Abdominal aortic aneurysm | Enrichment | COL3A1 | 2.51 |
| 128 | Timothy syndrome type 2 | Enrichment | CACNA1C | 2.51 |
| 129 | Periodic paralysis with transient compartment-like syndrome | Enrichment | CACNA1S | 2.51 |
| 130 | Type 2 collagen-related bone disorder | Enrichment | COL2A1 | 2.51 |
| 131 | Timothy syndrome type 1 | Enrichment | CACNA1C | 2.51 |
| 132 | Inherited creutzfeldt-jakob disease | Enrichment | PRNP | 2.51 |
| 133 | Cacna1c-related disorders | Enrichment | CACNA1C | 2.51 |
| 134 | Hirschsprung disease 1 | Enrichment | GDNF, NRTN | 2.44 |
| 135 | Long qt syndrome | Enrichment | CACNA1C, CACNA1S | 2.39 |
| 136 | Elliptocytosis 2 | Enrichment | SPTA1 | 2.33 |
| 137 | Osteoglophonic dysplasia | Enrichment | FGFR1 | 2.33 |
| 138 | Trigonocephaly 1 | Enrichment | FGFR1 | 2.33 |
| 139 | Oculoectodermal syndrome | Enrichment | KRAS | 2.33 |
| 140 | Spinocerebellar ataxia 5 | Enrichment | SPTBN2 | 2.33 |
| 141 | Noonan syndrome 4 | Enrichment | SOS1 | 2.33 |
| 142 | Developmental and epileptic encephalopathy 5 | Enrichment | SPTAN1 | 2.33 |
| 143 | Melanosis, neurocutaneous | Enrichment | NRAS | 2.33 |
| 144 | Noonan syndrome 6 | Enrichment | NRAS | 2.33 |
| 145 | Noonan syndrome 13 | Enrichment | MAPK1 | 2.33 |
| 146 | Spherocytosis, type 3 | Enrichment | SPTA1 | 2.33 |
| 147 | Spinocerebellar ataxia, autosomal recessive 14 | Enrichment | SPTBN2 | 2.33 |
| 148 | Developmental delay, impaired speech, and behavioral abnormalities | Enrichment | SPTBN1 | 2.33 |
| 149 | Cardiofaciocutaneous syndrome 2 | Enrichment | KRAS | 2.33 |
| 150 | Hyperpigmentation, familial progressive, 1 | Enrichment | SPTA1 | 2.33 |
| 151 | Hartsfield syndrome | Enrichment | FGFR1 | 2.33 |
| 152 | Thrombocytopenia 6 | Enrichment | SRC | 2.33 |
| 153 | Spherocytosis, type 2 | Enrichment | SPTB | 2.33 |
| 154 | Elliptocytosis 3 | Enrichment | SPTB | 2.33 |
| 155 | Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia | Enrichment | SPTAN1 | 2.33 |
| 156 | Developmental delay with or without epilepsy | Enrichment | SPTAN1 | 2.33 |
| 157 | Neuronopathy, distal hereditary motor, autosomal dominant 11 | Enrichment | SPTAN1 | 2.33 |
| 158 | Congenital pulmonary airway malformation | Enrichment | KRAS | 2.33 |
| 159 | Phakomatosis pigmentokeratotica | Enrichment | HRAS | 2.33 |
| 160 | Hartsfield-bixler-demyer syndrome | Enrichment | FGFR1 | 2.33 |
| 161 | Neurocutaneous melanocytosis | Enrichment | NRAS | 2.33 |
| 162 | Ehlers-danlos syndrome, vascular type | Enrichment | COL3A1 | 2.21 |
| 163 | Ehlers-danlos syndrome, hypermobility type | Enrichment | COL3A1 | 2.21 |
| 164 | Spondyloepimetaphyseal dysplasia, strudwick type | Enrichment | COL2A1 | 2.21 |
| 165 | Spondylometaphyseal dysplasia, corner fracture type | Enrichment | COL2A1 | 2.21 |
| 166 | Otospondylomegaepiphyseal dysplasia, autosomal recessive | Enrichment | COL2A1 | 2.21 |
| 167 | Timothy syndrome | Enrichment | CACNA1C | 2.21 |
| 168 | Legg-calve-perthes disease | Enrichment | COL2A1 | 2.21 |
| 169 | Creutzfeldt-jakob disease | Enrichment | PRNP | 2.21 |
| 170 | Epilepsy, early-onset, 5, with or without developmental delay | Enrichment | CNTN2 | 2.21 |
| 171 | Specific language impairment 5 | Enrichment | COL4A4 | 2.21 |
| 172 | Otospondylomegaepiphyseal dysplasia, autosomal dominant | Enrichment | COL2A1 | 2.21 |
| 173 | Long qt syndrome 8 | Enrichment | CACNA1C | 2.21 |
| 174 | Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 | Enrichment | COL4A2 | 2.21 |
| 175 | Stickler syndrome, type vi | Enrichment | COL9A3 | 2.21 |
| 176 | Fibromuscular dysplasia, multifocal | Enrichment | COL5A1 | 2.21 |
| 177 | Polymicrogyria with or without vascular-type ehlers-danlos syndrome | Enrichment | COL3A1 | 2.21 |
| 178 | Aortic dissection | Enrichment | COL3A1 | 2.21 |
| 179 | Glomerulonephritis | Enrichment | COL4A4 | 2.21 |
| 180 | Familial avascular necrosis of the femoral head | Enrichment | COL2A1 | 2.21 |
| 181 | Congenital disorder of glycosylation, type iw, autosomal dominant | Enrichment | CACNA1D | 2.21 |
| 182 | X-linked diffuse leiomyomatosis-alport syndrome | Enrichment | COL4A5 | 2.21 |
| 183 | Bladder cancer | Enrichment | HRAS, KRAS | 2.10 |
| 184 | Non-immune hydrops fetalis | Enrichment | HRAS, KRAS | 2.04 |
| 185 | Mccune-albright syndrome | Enrichment | COL2A1 | 2.03 |
| 186 | Retinal arteries, tortuosity of | Enrichment | COL4A1 | 2.03 |
| 187 | Spondyloepiphyseal dysplasia congenita | Enrichment | COL2A1 | 2.03 |
| 188 | Telecanthus | Enrichment | COL5A2 | 2.03 |
| 189 | Brain small vessel disease 2 | Enrichment | COL4A2 | 2.03 |
| 190 | Microangiopathy and leukoencephalopathy, pontine, autosomal dominant | Enrichment | COL4A1 | 2.03 |
| 191 | Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures | Enrichment | CACNA1C | 2.03 |
| 192 | Pilarowski-bjornsson syndrome | Enrichment | COL4A3 | 2.03 |
| 193 | Alport syndrome 3b, autosomal recessive | Enrichment | COL4A3 | 2.03 |
| 194 | Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps | Enrichment | COL4A1 | 2.03 |
| 195 | Hematuria, benign familial, 2 | Enrichment | COL4A3 | 2.03 |
| 196 | Thyrotoxic periodic paralysis | Enrichment | CACNA1S | 2.03 |
| 197 | Multiple epiphyseal dysplasia | Enrichment | COL2A1 | 2.03 |
| 198 | Fibromatosis, gingival, 1 | Enrichment | SOS1 | 2.03 |
| 199 | Costello syndrome | Enrichment | HRAS | 2.03 |
| 200 | Intellectual developmental disorder, x-linked, syndromic, raymond type | Enrichment | SPTAN1 | 2.03 |
| 201 | Pulmonic stenosis | Enrichment | SOS1 | 2.03 |
| 202 | Histiocytoma, angiomatoid fibrous | Enrichment | CREB1 | 2.03 |
| 203 | Pfeiffer syndrome | Enrichment | FGFR1 | 2.03 |
| 204 | Jackson-weiss syndrome | Enrichment | FGFR1 | 2.03 |
| 205 | Chudley-mccullough syndrome | Enrichment | SPTB | 2.03 |
| 206 | Neurodevelopmental disorder with hypotonia, neuropathy, and deafness | Enrichment | SPTBN4 | 2.03 |
| 207 | Dystonia 30 | Enrichment | PTPRA | 2.03 |
| 208 | Rosette-forming glioneuronal tumor | Enrichment | FGFR1 | 2.03 |
| 209 | Congenital hemolytic anemia | Enrichment | SPTA1 | 2.03 |
| 210 | Interfrontal craniofaciosynostosis | Enrichment | FGFR1 | 2.03 |
| 211 | Wooly hair nevus | Enrichment | HRAS | 2.03 |
| 212 | Schizencephaly | Enrichment | COL4A1 | 1.91 |
| 213 | Ventricular fibrillation, paroxysmal familial, 1 | Enrichment | CACNA1C | 1.91 |
| 214 | Frontotemporal dementia 2 | Enrichment | PRNP | 1.91 |
| 215 | Malignant hyperthermia | Enrichment | CACNA1S | 1.91 |
| 216 | Hypogonadotropic hypogonadism 2 with or without anosmia | Enrichment | FGFR1 | 1.86 |
| 217 | Nuchal bleb, familial | Enrichment | SOS1 | 1.86 |
| 218 | Langerhans cell histiocytosis | Enrichment | NRAS | 1.86 |
| 219 | Chromosome 8p11 myeloproliferative syndrome | Enrichment | FGFR1 | 1.86 |
| 220 | Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy | Enrichment | SPTBN1 | 1.86 |
| 221 | Short-rib thoracic dysplasia 11 with or without polydactyly | Enrichment | SPTAN1 | 1.86 |
| 222 | Spermatocytoma | Enrichment | HRAS | 1.86 |
| 223 | Melanoma of soft tissue | Enrichment | CREB1 | 1.86 |
| 224 | Leukemia, acute myeloid | Enrichment | KRAS, NRAS | 1.83 |
| 225 | Myasthenic syndrome, congenital, 8 | Enrichment | AGRN | 1.81 |
| 226 | Heart conduction disease | Enrichment | CACNA1C | 1.81 |
| 227 | Familial cerebral saccular aneurysm | Enrichment | COL3A1 | 1.81 |
| 228 | Developmental dysplasia of the hip 1 | Enrichment | COL2A1 | 1.73 |
| 229 | Hypokalemic periodic paralysis, type 1 | Enrichment | CACNA1S | 1.73 |
| 230 | Anterior segment dysgenesis 5 | Enrichment | COL4A1 | 1.73 |
| 231 | Familial adult myoclonic epilepsy | Enrichment | CNTN2 | 1.73 |
| 232 | Inguinal hernia | Enrichment | COL5A1 | 1.73 |
| 233 | Pain disorder | Enrichment | COL5A1 | 1.73 |
| 234 | Childhood absence epilepsy | Enrichment | CACNA1H | 1.73 |
| 235 | Cardiofaciocutaneous syndrome 1 | Enrichment | KRAS | 1.73 |
| 236 | Diffuse gastric and lobular breast cancer syndrome | Enrichment | KRAS | 1.73 |
| 237 | Chromosome 22q11.2 deletion syndrome, distal | Enrichment | MAPK1 | 1.73 |
| 238 | Cardiofaciocutaneous syndrome | Enrichment | KRAS | 1.73 |
| 239 | Lung sarcomatoid carcinoma | Enrichment | KRAS | 1.73 |
| 240 | Pilocytic astrocytoma | Enrichment | KRAS | 1.73 |
| 241 | Epidermolytic nevus | Enrichment | HRAS | 1.73 |
| 242 | Charcot-marie-tooth hereditary neuropathy | Enrichment | SPTAN1 | 1.73 |
| 243 | Gingival fibromatosis | Enrichment | SOS1 | 1.73 |
| 244 | Complex neurodevelopmental disorder | Enrichment | CACNA1C, CNTN2, SPTBN1 | 1.70 |
| 245 | Multiple enchondromatosis, maffucci type | Enrichment | COL2A1 | 1.67 |
| 246 | Pervasive developmental disorder | Enrichment | SPTBN1 | 1.64 |
| 247 | Holoprosencephaly | Enrichment | FGFR1 | 1.64 |
| 248 | Primary hypereosinophilic syndrome | Enrichment | FGFR1 | 1.64 |
| 249 | Rare pervasive developmental disorder | Enrichment | SPTBN1 | 1.64 |
| 250 | Gastroesophageal reflux | Enrichment | COL5A1 | 1.61 |
| 251 | Spastic paraplegia 4, autosomal dominant | Enrichment | COL3A1 | 1.61 |
| 252 | Orthostatic intolerance | Enrichment | COL5A1 | 1.61 |
| 253 | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | Enrichment | CACNA1C | 1.56 |
| 254 | Congenital central hypoventilation syndrome | Enrichment | GDNF | 1.56 |
| 255 | Primary hyperaldosteronism | Enrichment | CACNA1H | 1.56 |
| 256 | Familial thoracic aortic aneurysm and dissection | Enrichment | COL3A1 | 1.56 |
| 257 | Renal agenesis, bilateral | Enrichment | GFRA1 | 1.56 |
| 258 | Holoprosencephaly 1 | Enrichment | FGFR1 | 1.56 |
| 259 | Breast adenocarcinoma | Enrichment | KRAS | 1.56 |
| 260 | Lung squamous cell carcinoma | Enrichment | KRAS | 1.56 |
| 261 | Marfan syndrome | Enrichment | COL2A1 | 1.52 |
| 262 | Peters-plus syndrome | Enrichment | COL4A1 | 1.52 |
| 263 | Myelofibrosis | Enrichment | SRC | 1.49 |
| 264 | Capillary malformation-arteriovenous malformation 1 | Enrichment | KRAS | 1.49 |
| 265 | Gallbladder cancer | Enrichment | KRAS | 1.49 |
| 266 | Focal epilepsy | Enrichment | SPTAN1 | 1.49 |
| 267 | Epilepsy, myoclonic juvenile | Enrichment | CACNB4 | 1.47 |
| 268 | Epilepsy, idiopathic generalized | Enrichment | CACNA1H | 1.47 |
| 269 | Presynaptic congenital myasthenic syndromes | Enrichment | AGRN | 1.47 |
| 270 | Cardiac conduction defect | Enrichment | CACNA1C | 1.44 |
| 271 | Cutis laxa | Enrichment | COL5A1 | 1.44 |
| 272 | Postsynaptic congenital myasthenic syndromes | Enrichment | AGRN | 1.44 |
| 273 | Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly | Enrichment | COL5A1 | 1.40 |
| 274 | Clubfoot | Enrichment | COL5A1 | 1.40 |
| 275 | Arteriovenous malformation | Enrichment | HRAS | 1.39 |
| 276 | Hypogonadotropic hypogonadism | Enrichment | FGFR1 | 1.39 |
| 277 | Aortic aneurysm, familial thoracic 1 | Enrichment | COL3A1 | 1.37 |
| 278 | Walker-warburg syndrome | Enrichment | COL4A1 | 1.37 |
| 279 | Cataract | Enrichment | COL5A1 | 1.37 |
| 280 | Congenital myasthenic syndrome | Enrichment | AGRN | 1.37 |
| 281 | Isolated macular dystrophy | Enrichment | COL4A5 | 1.37 |
| 282 | Corpus callosum, agenesis of | Enrichment | COL4A1 | 1.34 |
| 283 | Anterior segment dysgenesis | Enrichment | COL4A1 | 1.34 |
| 284 | Atypical hemolytic-uremic syndrome | Enrichment | COL4A5 | 1.34 |
| 285 | Isolated corpus callosum agenesis | Enrichment | COL4A1 | 1.34 |
| 286 | Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome | Enrichment | COL4A1 | 1.34 |
| 287 | Myopathy, x-linked, with excessive autophagy | Enrichment | HRAS | 1.34 |
| 288 | Specific learning disability | Enrichment | MAPK1 | 1.30 |
| 289 | Beckwith-wiedemann syndrome | Enrichment | COL6A1 | 1.27 |
| 290 | Polycystic kidney disease | Enrichment | COL4A4 | 1.27 |
| 291 | Septooptic dysplasia | Enrichment | FGFR1 | 1.26 |
| 292 | Lip and oral cavity carcinoma | Enrichment | HRAS | 1.26 |
| 293 | Congenital myopathy | Enrichment | CACNA1S | 1.24 |
| 294 | Aortic valve disease 1 | Enrichment | SOS1 | 1.23 |
| 295 | Colorectal cancer | Enrichment | NRAS, SRC | 1.21 |
| 296 | Centronuclear myopathy | Enrichment | CACNA1S | 1.20 |
| 297 | Hypogonadotropic hypogonadism 7 with or without anosmia | Enrichment | FGFR1 | 1.20 |
| 298 | Osteoporosis | Enrichment | SRC | 1.20 |
| 299 | Lung cancer susceptibility 3 | Enrichment | KRAS | 1.20 |
| 300 | 46,xy partial gonadal dysgenesis | Enrichment | SOS1 | 1.20 |
| 301 | Lynch syndrome | Enrichment | KRAS | 1.17 |
| 302 | Cardiomyopathy, familial hypertrophic, 1 | Enrichment | CACNA1C | 1.14 |
| 303 | Scoliosis | Enrichment | COL2A1 | 1.14 |
| 304 | Muscular dystrophy | Enrichment | COL6A2 | 1.14 |
| 305 | Rhabdomyosarcoma | Enrichment | HRAS | 1.14 |
| 306 | Gliosarcoma | Enrichment | FGFR1 | 1.14 |
| 307 | Microform holoprosencephaly | Enrichment | FGFR1 | 1.14 |
| 308 | Lobar holoprosencephaly | Enrichment | FGFR1 | 1.14 |
| 309 | Giant cell glioblastoma | Enrichment | FGFR1 | 1.12 |
| 310 | Neuromuscular disease | Enrichment | SPTAN1 | 1.09 |
| 311 | Semilobar holoprosencephaly | Enrichment | FGFR1 | 1.09 |
| 312 | Normosmic congenital hypogonadotropic hypogonadism | Enrichment | FGFR1 | 1.09 |
| 313 | Arteriovenous malformations of the brain | Enrichment | KRAS | 1.07 |
| 314 | Long qt syndrome 1 | Enrichment | CACNA1C | 1.05 |
| 315 | Stargardt disease 1 | Enrichment | COL2A1 | 1.05 |
| 316 | Tooth agenesis | Enrichment | FGFR1 | 1.01 |
| 317 | Cakut | Enrichment | COL4A1 | 1.00 |
| 318 | Genetic steroid-resistant nephrotic syndrome | Enrichment | COL4A3 | 1.00 |
| 319 | Kallmann syndrome | Enrichment | FGFR1 | 0.99 |
| 320 | Pancreatic cancer | Enrichment | KRAS | 0.96 |
| 321 | Jeune thoracic dystrophy | Enrichment | SPTAN1 | 0.96 |
| 322 | Microcephaly | Enrichment | COL4A1, MAPK1 | 0.95 |
| 323 | Hydrops fetalis, nonimmune | Enrichment | HRAS | 0.94 |
| 324 | Asphyxiating thoracic dystrophy | Enrichment | SPTAN1 | 0.91 |
| 325 | Sensorineural hearing loss | Enrichment | COL9A1 | 0.86 |
| 326 | Lung cancer | Enrichment | KRAS | 0.86 |
| 327 | Short-rib thoracic dysplasia 1 with or without polydactyly | Enrichment | SPTAN1 | 0.85 |
| 328 | Autosomal dominant non-syndromic intellectual disability | Enrichment | CACNA1I | 0.84 |
| 329 | Developmental and epileptic encephalopathy | Enrichment | SPTAN1 | 0.81 |
| 330 | Benign epilepsy with centrotemporal spikes | Enrichment | SPTAN1 | 0.76 |
| 331 | Hereditary spastic paraplegia | Enrichment | SPTAN1 | 0.75 |
| 332 | Centralopathic epilepsy | Enrichment | SPTAN1 | 0.74 |
| 333 | Gastric cancer | Enrichment | KRAS | 0.74 |
| 334 | West syndrome | Enrichment | SPTAN1 | 0.73 |
| 335 | Hereditary breast carcinoma | Enrichment | KRAS | 0.73 |
| 336 | Thrombocytopenia | Enrichment | SRC | 0.70 |
| 337 | Rare genetic deafness | Enrichment | COL4A5 | 0.66 |
| 338 | Hereditary retinal dystrophy | Enrichment | COL2A1, COL9A1 | 0.65 |
| 339 | Fundus dystrophy | Enrichment | COL2A1, COL9A1 | 0.65 |
| 340 | Hereditary breast ovarian cancer syndrome | Enrichment | KRAS | 0.65 |
| 341 | Myeloma, multiple | Enrichment | KRAS | 0.64 |
| 342 | Breast cancer | Enrichment | KRAS | 0.53 |
| 343 | Ovarian cancer | Enrichment | KRAS | 0.42 |