| 1 | Rare autosomal dominant non-syndromic sensorineural deafness type dfna | Enrichment | ACTG1, MYH14, MYH9, MYO1A, MYO1C, MYO6, MYO7A | 6.95 |
| 2 | Non-syndromic genetic deafness | Enrichment | ACTG1, MYH14, MYO15A, MYO3A, MYO6, MYO7A | 6.60 |
| 3 | Nonsyndromic hearing loss | Enrichment | ACTG1, MYH14, MYO15A, MYO3A, MYO6, MYO7A | 6.18 |
| 4 | Lacrimoauriculodentodigital syndrome 1 | Enrichment | FGF10, FGFR2, FGFR3 | 5.99 |
| 5 | Hemangioma, capillary infantile | Enrichment | FLT4, KDR, MYH9 | 4.70 |
| 6 | Baraitser-winter cerebrofrontofacial syndrome | Enrichment | ACTB, ACTG1 | 4.25 |
| 7 | Pfeiffer syndrome | Enrichment | FGFR1, FGFR2 | 3.99 |
| 8 | Jackson-weiss syndrome | Enrichment | FGFR1, FGFR2 | 3.99 |
| 9 | Congenital myopathy 4a, autosomal dominant | Enrichment | ACTA1, MYH7, MYL2 | 3.75 |
| 10 | Rare autosomal recessive non-syndromic sensorineural deafness type dfnb | Enrichment | MET, MYH9, MYO15A, MYO3A, MYO6, MYO7A | 3.54 |
| 11 | Hypertrophic cardiomyopathy | Enrichment | MYH7, MYH7B, MYL2, MYL3 | 3.53 |
| 12 | Crouzon syndrome | Enrichment | FGFR2, FGFR3 | 3.51 |
| 13 | Rare genetic deafness | Enrichment | ACTG1, MYH9, MYO15A, MYO6, MYO7A | 3.50 |
| 14 | Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 | Enrichment | ACTG2, MYH11 | 3.48 |
| 15 | Dilated cardiomyopathy | Enrichment | ACTA1, MYH6, MYH7, MYL2, VCL | 3.47 |
| 16 | Gliosarcoma | Enrichment | EGFR, FGFR1, FGFR3 | 3.28 |
| 17 | Visceral myopathy 1 | Enrichment | ACTG2, MYH11 | 3.26 |
| 18 | Congenital myopathy 3 with rigid spine | Enrichment | ACTA1, MYH7 | 3.26 |
| 19 | Saethre-chotzen syndrome | Enrichment | FGFR2, FGFR3 | 3.22 |
| 20 | Giant cell glioblastoma | Enrichment | EGFR, FGFR1, FGFR3 | 3.20 |
| 21 | Ear malformation | Enrichment | MYO15A, MYO6, MYO7A | 3.13 |
| 22 | Cardiomyopathy, familial hypertrophic, 1 | Enrichment | MYH6, MYH7, MYH7B | 3.13 |
| 23 | Normosmic congenital hypogonadotropic hypogonadism | Enrichment | FGF17, FGF8, FGFR1 | 3.12 |
| 24 | Intestinal pseudo-obstruction | Enrichment | ACTG2, MYH11 | 3.08 |
| 25 | Hemifacial hyperplasia | Enrichment | FGFR2, FGFR3 | 3.00 |
| 26 | Holoprosencephaly | Enrichment | FGF8, FGFR1 | 3.00 |
| 27 | Holoprosencephaly 1 | Enrichment | FGF8, FGFR1 | 2.82 |
| 28 | Lung squamous cell carcinoma | Enrichment | EGFR, FGFR3 | 2.82 |
| 29 | Kallmann syndrome | Enrichment | FGF17, FGF8, FGFR1 | 2.80 |
| 30 | Familial hypertrophic cardiomyopathy | Enrichment | MYH7, MYL2, MYL3 | 2.72 |
| 31 | Colorectal cancer | Enrichment | FGFR2, FGFR3, MET, MYO1B, PIK3R1 | 2.72 |
| 32 | Nemaline myopathy | Enrichment | ACTA1, MYO18B | 2.62 |
| 33 | Arthrogryposis, distal, type 1a | Enrichment | MET, MYH3 | 2.56 |
| 34 | Lymphoma, non-hodgkin, familial | Enrichment | CASP10, PRF1 | 2.56 |
| 35 | Myopathy | Enrichment | ACTA1, MYH2, MYH7 | 2.48 |
| 36 | Distal arthrogryposis | Enrichment | ACTA1, MYH3, MYL11 | 2.42 |
| 37 | Sensorineural hearing loss | Enrichment | MYO15A, MYO3A, MYO7A | 2.25 |
| 38 | Cardiomyopathy, dilated, 1e | Enrichment | MYH7, MYL2 | 2.15 |
| 39 | Familial isolated dilated cardiomyopathy | Enrichment | MYH6, MYH7, VCL | 2.13 |
| 40 | Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a | Enrichment | MYH3 | 2.12 |
| 41 | Baraitser-winter syndrome 1 | Enrichment | ACTB | 2.12 |
| 42 | Deafness, autosomal recessive 2 | Enrichment | MYO7A | 2.12 |
| 43 | Deafness, autosomal dominant 17 | Enrichment | MYH9 | 2.12 |
| 44 | Deafness, autosomal dominant 48 | Enrichment | MYO1A | 2.12 |
| 45 | Immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis | Enrichment | RAC2 | 2.12 |
| 46 | Cardiomyopathy, familial hypertrophic, 8 | Enrichment | MYL3 | 2.12 |
| 47 | Congenital myopathy 2a, typical, autosomal dominant | Enrichment | ACTA1 | 2.12 |
| 48 | Amyloidosis, finnish type | Enrichment | GSN | 2.12 |
| 49 | Deafness, autosomal dominant 22 | Enrichment | MYO6 | 2.12 |
| 50 | Nail disorder, nonsyndromic congenital, 3 | Enrichment | PLCD1 | 2.12 |
| 51 | Amyotrophic lateral sclerosis 18 | Enrichment | PFN1 | 2.12 |
| 52 | Myopathy, scapulohumeroperoneal | Enrichment | ACTA1 | 2.12 |
| 53 | Cardiomyopathy, dilated, 1ee | Enrichment | MYH6 | 2.12 |
| 54 | Sick sinus syndrome 3 | Enrichment | MYH6 | 2.12 |
| 55 | Griscelli syndrome, type 1 | Enrichment | MYO5A | 2.12 |
| 56 | Elejalde neuroectodermal melanolysosomal syndrome | Enrichment | MYO5A | 2.12 |
| 57 | Ataxia-oculomotor apraxia 3 | Enrichment | PIK3R5 | 2.12 |
| 58 | Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 | Enrichment | ACTG2 | 2.12 |
| 59 | Spondylometaphyseal dysplasia with corneal dystrophy | Enrichment | PLCB3 | 2.12 |
| 60 | Immunodeficiency 82 with systemic inflammation | Enrichment | SYK | 2.12 |
| 61 | Deafness, autosomal dominant 4a | Enrichment | MYH14 | 2.12 |
| 62 | Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies | Enrichment | RAC3 | 2.12 |
| 63 | Short syndrome | Enrichment | PIK3R1 | 2.12 |
| 64 | Congenital smooth muscle hamartoma, with or without hemihypertrophy | Enrichment | ACTB | 2.12 |
| 65 | Immune dysregulation, autoimmunity, and autoinflammation | Enrichment | PLCG1 | 2.12 |
| 66 | Deafness, autosomal recessive 37 | Enrichment | MYO6 | 2.12 |
| 67 | Auriculocondylar syndrome 2a | Enrichment | PLCB4 | 2.12 |
| 68 | Diarrhea 15, congenital | Enrichment | MYO1A | 2.12 |
| 69 | Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia | Enrichment | RAC2 | 2.12 |
| 70 | Atrial fibrillation, familial, 18 | Enrichment | MYL4 | 2.12 |
| 71 | Deafness, autosomal dominant 11 | Enrichment | MYO7A | 2.12 |
| 72 | Cardiomyopathy, dilated, 1w | Enrichment | VCL | 2.12 |
| 73 | Deafness, autosomal recessive 30 | Enrichment | MYO3A | 2.12 |
| 74 | Becker nevus syndrome | Enrichment | ACTB | 2.12 |
| 75 | Celiac disease 4 | Enrichment | MYO9B | 2.12 |
| 76 | Dystonia-deafness syndrome 1 | Enrichment | ACTB | 2.12 |
| 77 | Visceral neuropathy, familial, 3, autosomal dominant | Enrichment | ACTG2 | 2.12 |
| 78 | Cardiomyopathy, familial hypertrophic, 14 | Enrichment | MYH6 | 2.12 |
| 79 | Cardiomyopathy, familial hypertrophic, 15 | Enrichment | VCL | 2.12 |
| 80 | Congenital myopathy 2b, severe infantile, autosomal recessive | Enrichment | ACTA1 | 2.12 |
| 81 | Immunodeficiency 36 with lymphoproliferation | Enrichment | PIK3R1 | 2.12 |
| 82 | Autoinflammation, antibody deficiency, and immune dysregulation | Enrichment | PLCG2 | 2.12 |
| 83 | Peripheral neuropathy, myopathy, hoarseness, and hearing loss | Enrichment | MYH14 | 2.12 |
| 84 | Autosomal dominant familial visceral neuropathy | Enrichment | ACTG2 | 2.12 |
| 85 | Agammaglobulinemia 7, autosomal recessive | Enrichment | PIK3R1 | 2.12 |
| 86 | Focal segmental glomerulosclerosis 6 | Enrichment | MYO1E | 2.12 |
| 87 | Familial cold autoinflammatory syndrome 3 | Enrichment | PLCG2 | 2.12 |
| 88 | Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies | Enrichment | RHOA | 2.12 |
| 89 | Takenouchi-kosaki syndrome | Enrichment | CDC42 | 2.12 |
| 90 | Congenital myopathy 2c, severe infantile, autosomal dominant | Enrichment | ACTA1 | 2.12 |
| 91 | Autoinflammatory disease, systemic, with vasculitis | Enrichment | LYN | 2.12 |
| 92 | Thrombocytopenia 8, with dysmorphic features and developmental delay | Enrichment | ACTB | 2.12 |
| 93 | Deafness, autosomal dominant 90 | Enrichment | MYO3A | 2.12 |
| 94 | Myasthenic syndrome, congenital, 24, presynaptic | Enrichment | MYO9A | 2.12 |
| 95 | Congenital myopathy 14 | Enrichment | MYL1 | 2.12 |
| 96 | Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies | Enrichment | RHOA | 2.12 |
| 97 | Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia | Enrichment | RAC2 | 2.12 |
| 98 | Immunodeficiency 129 | Enrichment | RHOH | 2.12 |
| 99 | Auriculocondylar syndrome 2b | Enrichment | PLCB4 | 2.12 |
| 100 | Baraitser-winter syndrome | Enrichment | ACTB | 2.12 |
| 101 | Autoinflammation with pulmonary and cutaneous vasculitis | Enrichment | HCK | 2.12 |
| 102 | Usher syndrome type 1b | Enrichment | MYO7A | 2.12 |
| 103 | T-cell immunodeficiency with epidermodysplasia verruciformis | Enrichment | RHOH | 2.12 |
| 104 | Colitis | Enrichment | SYK | 2.12 |
| 105 | Klippel-feil syndrome | Enrichment | MYO18B | 2.12 |
| 106 | Autosomal dominant nonsyndromic hearing loss 17 | Enrichment | MYH9 | 2.12 |
| 107 | Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome | Enrichment | MYO6 | 2.12 |
| 108 | Neonatal alloimmune neutropenia | Enrichment | FCGR3B | 2.12 |
| 109 | Zebra body myopathy | Enrichment | ACTA1 | 2.12 |
| 110 | Infantile lad-like disease due to rac2 deficiency | Enrichment | RAC2 | 2.12 |
| 111 | Congenital smooth muscle hamartoma | Enrichment | ACTB | 2.12 |
| 112 | Reticular dysgenesis-like severe combined immunodeficiency | Enrichment | RAC2 | 2.12 |
| 113 | Nocarh syndrome | Enrichment | CDC42 | 2.12 |
| 114 | Developmental malformations-deafness-dystonia syndrome | Enrichment | ACTB | 2.12 |
| 115 | Autosomal dominant nonsyndromic hearing loss 22 | Enrichment | MYO6 | 2.12 |
| 116 | Actin-accumulation myopathy | Enrichment | ACTA1 | 2.12 |
| 117 | Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom | Enrichment | RAC1 | 2.12 |
| 118 | Myopathic intestinal pseudoobstruction | Enrichment | ACTG2 | 2.12 |
| 119 | Rac2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndrome | Enrichment | RAC2 | 2.12 |
| 120 | Actg2 visceral myopathy | Enrichment | ACTG2 | 2.12 |
| 121 | Neuromuscular disease | Enrichment | ACTA1, MYH7 | 2.10 |
| 122 | Lung cancer susceptibility 3 | Enrichment | EGFR, FGF10 | 2.06 |
| 123 | Congenital myopathy | Enrichment | ACTA1, MYH7 | 2.06 |
| 124 | Hypochondroplasia | Enrichment | FGFR3 | 1.99 |
| 125 | Beare-stevenson cutis gyrata syndrome | Enrichment | FGFR2 | 1.99 |
| 126 | Osteoglophonic dysplasia | Enrichment | FGFR1 | 1.99 |
| 127 | Thanatophoric dysplasia, type i | Enrichment | FGFR3 | 1.99 |
| 128 | Trigonocephaly 1 | Enrichment | FGFR1 | 1.99 |
| 129 | Spinocerebellar ataxia 27a | Enrichment | FGF14 | 1.99 |
| 130 | Muenke syndrome | Enrichment | FGFR3 | 1.99 |
| 131 | Intellectual developmental disorder, x-linked 30 | Enrichment | PAK3 | 1.99 |
| 132 | Developmental and epileptic encephalopathy 8 | Enrichment | ARHGEF9 | 1.99 |
| 133 | Hemophagocytic lymphohistiocytosis, familial, 2 | Enrichment | PRF1 | 1.99 |
| 134 | Hypomagnesemia 4, renal | Enrichment | EGF | 1.99 |
| 135 | Scaphocephaly, maxillary retrusion, and impaired intellectual development | Enrichment | FGFR2 | 1.99 |
| 136 | Apert syndrome | Enrichment | FGFR2 | 1.99 |
| 137 | Thanatophoric dysplasia, type ii | Enrichment | FGFR3 | 1.99 |
| 138 | Nephrotic syndrome, type 8 | Enrichment | ARHGDIA | 1.99 |
| 139 | Hypogonadotropic hypogonadism 20 with or without anosmia | Enrichment | FGF17 | 1.99 |
| 140 | Camptodactyly, tall stature, and hearing loss syndrome | Enrichment | FGFR3 | 1.99 |
| 141 | Aplasia of lacrimal and salivary glands | Enrichment | FGF10 | 1.99 |
| 142 | Bent bone dysplasia syndrome 1 | Enrichment | FGFR2 | 1.99 |
| 143 | Immunodeficiency 62 | Enrichment | ARHGEF1 | 1.99 |
| 144 | Neurodevelopmental disorder with midbrain and hindbrain malformations | Enrichment | ARHGEF2 | 1.99 |
| 145 | Intellectual developmental disorder, x-linked 110 | Enrichment | FGF13 | 1.99 |
| 146 | Spinocerebellar ataxia 27b, late-onset | Enrichment | FGF14 | 1.99 |
| 147 | Knobloch syndrome 2 | Enrichment | PAK2 | 1.99 |
| 148 | Intellectual developmental disorder with macrocephaly, seizures, and speech delay | Enrichment | PAK1 | 1.99 |
| 149 | Hereditary lymphedema id | Enrichment | VEGFC | 1.99 |
| 150 | Osteofibrous dysplasia | Enrichment | MET | 1.99 |
| 151 | Intellectual developmental disorder, x-linked 46 | Enrichment | ARHGEF6 | 1.99 |
| 152 | Developmental and epileptic encephalopathy 90 | Enrichment | FGF13 | 1.99 |
| 153 | Metacarpal 4-5 fusion | Enrichment | FGF16 | 1.99 |
| 154 | Lymphatic malformation 4 | Enrichment | VEGFC | 1.99 |
| 155 | Lacrimoauriculodentodigital syndrome 3 | Enrichment | FGF10 | 1.99 |
| 156 | Familial isolated trichomegaly | Enrichment | FGF5 | 1.99 |
| 157 | Slowed nerve conduction velocity, autosomal dominant | Enrichment | ARHGEF10 | 1.99 |
| 158 | Deafness, autosomal recessive 97 | Enrichment | MET | 1.99 |
| 159 | Microvascular complications of diabetes 1 | Enrichment | VEGFA | 1.99 |
| 160 | Crouzon syndrome with acanthosis nigricans | Enrichment | FGFR3 | 1.99 |
| 161 | Autoimmune lymphoproliferative syndrome, type iia | Enrichment | CASP10 | 1.99 |
| 162 | Autism 9 | Enrichment | MET | 1.99 |
| 163 | Multiple synostoses syndrome 3 | Enrichment | FGF9 | 1.99 |
| 164 | Hypogonadotropic hypogonadism 6 with or without anosmia | Enrichment | FGF8 | 1.99 |
| 165 | Brain small vessel disease 5 with osteoporosis | Enrichment | ARHGEF15 | 1.99 |
| 166 | Achondroplasia, severe, with developmental delay and acanthosis nigricans | Enrichment | FGFR3 | 1.99 |
| 167 | Tumoral calcinosis, hyperphosphatemic, familial, 2 | Enrichment | FGF23 | 1.99 |
| 168 | Hartsfield syndrome | Enrichment | FGFR1 | 1.99 |
| 169 | Congenital heart defects, multiple types, 7 | Enrichment | FLT4 | 1.99 |
| 170 | Renal hypodysplasia/aplasia 2 | Enrichment | FGF20 | 1.99 |
| 171 | Developmental and epileptic encephalopathy 47 | Enrichment | FGF12 | 1.99 |
| 172 | Tufted angioma of skin | Enrichment | KDR | 1.99 |
| 173 | Arthrogryposis, distal, type 11 | Enrichment | MET | 1.99 |
| 174 | Lacrimoauriculodentodigital syndrome 2 | Enrichment | FGFR3 | 1.99 |
| 175 | Short-rib thoracic dysplasia 22 without polydactyly | Enrichment | FGF4 | 1.99 |
| 176 | Spinocerebellar ataxia type 27b | Enrichment | FGF14 | 1.99 |
| 177 | Fgfr3-related chondrodysplasia | Enrichment | FGFR3 | 1.99 |
| 178 | Congenital primary lymphedema of gordon | Enrichment | VEGFC | 1.99 |
| 179 | Camptodactyly-tall stature-scoliosis-hearing loss syndrome | Enrichment | FGFR3 | 1.99 |
| 180 | Fatal post-viral neurodegenerative disorder | Enrichment | PRF1 | 1.99 |
| 181 | Hartsfield-bixler-demyer syndrome | Enrichment | FGFR1 | 1.99 |
| 182 | Egf-related primary hypomagnesemia with intellectual disability | Enrichment | EGF | 1.99 |
| 183 | Non-syndromic unicoronal craniosynostosis | Enrichment | FGFR2 | 1.99 |
| 184 | Interstitial lung disease specific to childhood | Enrichment | FGF10 | 1.99 |
| 185 | Microform holoprosencephaly | Enrichment | FGF8, FGFR1 | 1.95 |
| 186 | Lobar holoprosencephaly | Enrichment | FGF8, FGFR1 | 1.95 |
| 187 | Deafness, autosomal recessive | Enrichment | MYH9, MYO15A, MYO7A | 1.93 |
| 188 | Autosomal recessive nonsyndromic deafness | Enrichment | MYH9, MYO15A, MYO7A | 1.91 |
| 189 | Semilobar holoprosencephaly | Enrichment | FGF8, FGFR1 | 1.85 |
| 190 | Aortic aneurysm, familial thoracic 4 | Enrichment | MYH11 | 1.82 |
| 191 | Arthrogryposis, distal, type 2a | Enrichment | MYH3 | 1.82 |
| 192 | Ebstein anomaly | Enrichment | MYH7 | 1.82 |
| 193 | Cataract 35 | Enrichment | MYH9 | 1.82 |
| 194 | Lethal congenital contracture syndrome 3 | Enrichment | PIP5K1C | 1.82 |
| 195 | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | Enrichment | PIK3R5 | 1.82 |
| 196 | Deafness, autosomal dominant 30 | Enrichment | MYO3A | 1.82 |
| 197 | Aortic aneurysm, familial thoracic 2 | Enrichment | ACTA2 | 1.82 |
| 198 | Griscelli syndrome, type 3 | Enrichment | MYO5A | 1.82 |
| 199 | Arthrogryposis, distal, type 7 | Enrichment | MYH8 | 1.82 |
| 200 | Deafness, autosomal dominant 20 | Enrichment | ACTG1 | 1.82 |
| 201 | Smooth muscle dysfunction syndrome | Enrichment | ACTA2 | 1.82 |
| 202 | Neutrophilia, hereditary | Enrichment | PIP4K2B | 1.82 |
| 203 | Aortic aneurysm, familial thoracic 6 | Enrichment | ACTA2 | 1.82 |
| 204 | Baraitser-winter syndrome 2 | Enrichment | ACTG1 | 1.82 |
| 205 | Moyamoya disease 5 | Enrichment | ACTA2 | 1.82 |
| 206 | Spermatogenic failure 17 | Enrichment | PLCZ1 | 1.82 |
| 207 | Neutropenia, severe congenital, 7, autosomal recessive | Enrichment | PIP4K2B | 1.82 |
| 208 | Arthrogryposis, distal, type 2b3 | Enrichment | MYH3 | 1.82 |
| 209 | Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 | Enrichment | MYH11 | 1.82 |
| 210 | Intellectual developmental disorder, autosomal dominant 48 | Enrichment | RAC1 | 1.82 |
| 211 | Atrial septal defect 3 | Enrichment | MYH6 | 1.82 |
| 212 | Cardiomyopathy, familial hypertrophic, 10 | Enrichment | MYL2 | 1.82 |
| 213 | Severe congenital neutropenia 7 | Enrichment | PIP4K2B | 1.82 |
| 214 | Ocular melanoma | Enrichment | PLCB4 | 1.82 |
| 215 | Intellectual developmental disorder, autosomal dominant 60, with seizures | Enrichment | PIP5K1A | 1.82 |
| 216 | Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome | Enrichment | MYH2 | 1.82 |
| 217 | Pseudosarcomatous fibromatosis | Enrichment | MYH9 | 1.82 |
| 218 | Immune system disease | Enrichment | CDC42 | 1.82 |
| 219 | Visceral myopathy 2 | Enrichment | MYH11 | 1.82 |
| 220 | Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy | Enrichment | MYL2 | 1.82 |
| 221 | B-lymphoblastic leukemia/lymphoma with hyperdiploidy | Enrichment | PIP4K2A | 1.82 |
| 222 | Klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism | Enrichment | MYO18B | 1.82 |
| 223 | Arthrogryposis, distal, type 1c | Enrichment | MYL11 | 1.82 |
| 224 | Megacystis-microcolon-intestinal hypoperistalsis syndrome 4 | Enrichment | MYL9 | 1.82 |
| 225 | Klippel-feil anomaly-myopathy-facial dysmorphism syndrome | Enrichment | MYO18B | 1.82 |
| 226 | Arthritis | Enrichment | SYK | 1.82 |
| 227 | Childhood-onset autosomal recessive myopathy with external ophthalmoplegia | Enrichment | MYH2 | 1.82 |
| 228 | Intestinal obstruction | Enrichment | ACTG2 | 1.82 |
| 229 | Carney complex - trismus - pseudocamptodactyly syndrome | Enrichment | MYH8 | 1.82 |
| 230 | Craniosynostosis | Enrichment | FGFR2, FGFR3 | 1.76 |
| 231 | Lymphatic malformation 1 | Enrichment | FLT4 | 1.69 |
| 232 | Otodental dysplasia | Enrichment | FGF3 | 1.69 |
| 233 | Trichomegaly | Enrichment | FGF5 | 1.69 |
| 234 | Intracranial hypertension, idiopathic | Enrichment | FLT4 | 1.69 |
| 235 | Pulmonary hypoplasia, primary | Enrichment | FGF10 | 1.69 |
| 236 | Cervical cancer | Enrichment | FGFR3 | 1.69 |
| 237 | Aural atresia, congenital | Enrichment | FGFR2 | 1.69 |
| 238 | Keratosis, seborrheic | Enrichment | FGFR3 | 1.69 |
| 239 | Deafness, congenital, with inner ear agenesis, microtia, and microdontia | Enrichment | FGF3 | 1.69 |
| 240 | Encephalocraniocutaneous lipomatosis | Enrichment | FGFR1 | 1.69 |
| 241 | Duane retraction syndrome 2 | Enrichment | CHN1 | 1.69 |
| 242 | Angioma, tufted | Enrichment | KDR | 1.69 |
| 243 | Antley-bixler syndrome without genital anomalies or disordered steroidogenesis | Enrichment | FGFR2 | 1.69 |
| 244 | Childhood hepatocellular carcinoma | Enrichment | MET | 1.69 |
| 245 | Split hand-foot malformation | Enrichment | FGFR2 | 1.69 |
| 246 | Rosette-forming glioneuronal tumor | Enrichment | FGFR1 | 1.69 |
| 247 | Papillary renal cell carcinoma | Enrichment | MET | 1.69 |
| 248 | Cervix carcinoma | Enrichment | FGFR3 | 1.69 |
| 249 | Hereditary lymphedema i | Enrichment | FLT4 | 1.69 |
| 250 | Interfrontal craniofaciosynostosis | Enrichment | FGFR1 | 1.69 |
| 251 | Autosomal dominant nonsyndromic deafness | Enrichment | FGFR2 | 1.69 |
| 252 | Oculootodental syndrome | Enrichment | FGF3 | 1.69 |
| 253 | Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss | Enrichment | MYH9 | 1.65 |
| 254 | Klippel-feil syndrome 1, autosomal dominant | Enrichment | MYO18B | 1.65 |
| 255 | Deafness, autosomal recessive 3 | Enrichment | MYO15A | 1.65 |
| 256 | Cardiomyopathy, dilated, 1c, with or without left ventricular noncompaction | Enrichment | MYH7B | 1.65 |
| 257 | Spondylocarpotarsal synostosis syndrome | Enrichment | MYH3 | 1.65 |
| 258 | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | Enrichment | PIK3R1 | 1.65 |
| 259 | Nephrotic syndrome, type 3 | Enrichment | PLCE1 | 1.65 |
| 260 | Immunodeficiency 14a with lymphoproliferation, autosomal dominant | Enrichment | PIK3R1 | 1.65 |
| 261 | Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy | Enrichment | MYH15 | 1.65 |
| 262 | Immunodeficiency 14 | Enrichment | PIK3R1 | 1.65 |
| 263 | Qualitative or quantitative defects of beta-myosin heavy chain | Enrichment | MYH7 | 1.65 |
| 264 | Idiopathic camptocormia | Enrichment | MYH7 | 1.65 |
| 265 | Congenital diarrhea | Enrichment | MYO1A | 1.65 |
| 266 | Tricuspid valve insufficiency | Enrichment | MYH11 | 1.65 |
| 267 | Genetic steroid-resistant nephrotic syndrome | Enrichment | MYO1E, PLCE1 | 1.57 |
| 268 | Left ventricular noncompaction | Enrichment | MYH7, MYH7B | 1.55 |
| 269 | Tetralogy of fallot | Enrichment | FLT4, KDR | 1.55 |
| 270 | Myopathy, distal, 1 | Enrichment | MYH7 | 1.53 |
| 271 | Klippel-feil syndrome 2, autosomal recessive | Enrichment | MYO18B | 1.53 |
| 272 | Nemaline myopathy 2 | Enrichment | ACTA1 | 1.53 |
| 273 | Congenital myopathy 7b, myosin storage, autosomal recessive | Enrichment | MYH7 | 1.53 |
| 274 | Autoimmune lymphoproliferative syndrome | Enrichment | ACTA2 | 1.53 |
| 275 | Auriculocondylar syndrome 1 | Enrichment | PLCB4 | 1.53 |
| 276 | Megalencephaly-capillary malformation-polymicrogyria syndrome | Enrichment | PIK3R2 | 1.53 |
| 277 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | Enrichment | PIK3R2 | 1.53 |
| 278 | Carney complex variant | Enrichment | MYH8 | 1.53 |
| 279 | Congenital myopathy 7a, myosin storage, autosomal dominant | Enrichment | MYH7 | 1.53 |
| 280 | Congenital myopathy 6 with ophthalmoplegia | Enrichment | MYH2 | 1.53 |
| 281 | Aminoacylase 1 deficiency | Enrichment | ACTB | 1.53 |
| 282 | Developmental and epileptic encephalopathy 12 | Enrichment | PLCB1 | 1.53 |
| 283 | Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1b | Enrichment | MYH3 | 1.53 |
| 284 | Hyaline body myopathy | Enrichment | MYH7 | 1.53 |
| 285 | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | Enrichment | CDC42 | 1.53 |
| 286 | Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) | Enrichment | MYH11 | 1.53 |
| 287 | Mitral valve insufficiency | Enrichment | MYH11 | 1.53 |
| 288 | Intermediate nemaline myopathy | Enrichment | ACTA1 | 1.53 |
| 289 | Familial sick sinus syndrome | Enrichment | MYH6 | 1.53 |
| 290 | Pseudomyogenic hemangioendothelioma | Enrichment | ACTB | 1.53 |
| 291 | Achondroplasia | Enrichment | FGFR3 | 1.52 |
| 292 | Hypogonadotropic hypogonadism 2 with or without anosmia | Enrichment | FGFR1 | 1.52 |
| 293 | Larsen syndrome | Enrichment | FGFR3 | 1.52 |
| 294 | Tumoral calcinosis, hyperphosphatemic, familial, 1 | Enrichment | FGF23 | 1.52 |
| 295 | Hypophosphatemic rickets, autosomal dominant | Enrichment | FGF23 | 1.52 |
| 296 | Chromosome 8p11 myeloproliferative syndrome | Enrichment | FGFR1 | 1.52 |
| 297 | Neonatal nephrocutaneous inflammatory syndrome | Enrichment | EGFR | 1.52 |
| 298 | Hamartoma | Enrichment | FGFR3 | 1.52 |
| 299 | Testicular germ cell cancer | Enrichment | FGFR3 | 1.52 |
| 300 | Duane retraction syndrome | Enrichment | CHN1 | 1.52 |
| 301 | Spermatocytoma | Enrichment | FGFR3 | 1.52 |
| 302 | Neonatal inflammatory skin and bowel disease | Enrichment | EGFR | 1.52 |
| 303 | Renal cell carcinoma | Enrichment | MET | 1.52 |
| 304 | Testicular cancer | Enrichment | FGFR3 | 1.52 |
| 305 | Systemic lupus erythematosus | Enrichment | FCGR2A, FCGR3B | 1.46 |
| 306 | Bladder cancer | Enrichment | EGFR, FGFR3 | 1.46 |
| 307 | Arthrogryposis, distal, type 2b1 | Enrichment | MYH3 | 1.43 |
| 308 | Deafness, autosomal recessive 9 | Enrichment | MYO15A | 1.43 |
| 309 | Deafness, autosomal recessive 63 | Enrichment | MYH9 | 1.43 |
| 310 | Congenital ptosis | Enrichment | MYH10 | 1.43 |
| 311 | Otof-related hearing loss | Enrichment | MYO15A | 1.43 |
| 312 | Coloboma of choroid and retina | Enrichment | ACTG1 | 1.43 |
| 313 | Severe congenital nemaline myopathy | Enrichment | ACTA1 | 1.43 |
| 314 | Multiple synostoses syndrome | Enrichment | FGF9 | 1.40 |
| 315 | Knobloch syndrome | Enrichment | PAK2 | 1.40 |
| 316 | Non-syndromic bicoronal craniosynostosis | Enrichment | FGFR3 | 1.40 |
| 317 | Glioma | Enrichment | FGFR2 | 1.40 |
| 318 | Nephrotic syndrome | Enrichment | MYO1E, PLCE1 | 1.38 |
| 319 | Lung cancer | Enrichment | EGFR, MET | 1.38 |
| 320 | Familial thoracic aortic aneurysm and aortic dissection | Enrichment | ACTA2, MYH11 | 1.36 |
| 321 | Melanoma, uveal | Enrichment | PLCB4 | 1.35 |
| 322 | Hemihyperplasia, isolated | Enrichment | RHOA | 1.35 |
| 323 | Moyamoya disease 1 | Enrichment | ACTA2 | 1.35 |
| 324 | Epidermolysis bullosa, junctional 5b, with pyloric atresia | Enrichment | MYO6 | 1.35 |
| 325 | Inherited arrhythmogenic cardiomyopathy | Enrichment | MYH7 | 1.35 |
| 326 | Typical nemaline myopathy | Enrichment | ACTA1 | 1.35 |
| 327 | Moebius syndrome | Enrichment | CHN1 | 1.30 |
| 328 | Martsolf syndrome 1 | Enrichment | ARHGAP5 | 1.30 |
| 329 | Hemophagocytic lymphohistiocytosis, familial, 1 | Enrichment | PRF1 | 1.30 |
| 330 | Knobloch syndrome 1 | Enrichment | PAK2 | 1.30 |
| 331 | Mosaic variegated aneuploidy syndrome 1 | Enrichment | PAK6 | 1.30 |
| 332 | Robinow syndrome, autosomal dominant 2 | Enrichment | CHN1 | 1.30 |
| 333 | Pre-eclampsia | Enrichment | FLT1 | 1.30 |
| 334 | Primary hypereosinophilic syndrome | Enrichment | FGFR1 | 1.30 |
| 335 | Idiopathic aplastic anemia | Enrichment | PRF1 | 1.30 |
| 336 | Meniere disease | Enrichment | MYO7A | 1.29 |
| 337 | Childhood-onset nemaline myopathy | Enrichment | ACTA1 | 1.29 |
| 338 | Overgrowth syndrome | Enrichment | PIK3R1 | 1.29 |
| 339 | Familial isolated restrictive cardiomyopathy | Enrichment | MYL2 | 1.29 |
| 340 | Myocarditis | Enrichment | MYH7 | 1.23 |
| 341 | Hypoplastic left heart syndrome | Enrichment | MYH6 | 1.23 |
| 342 | Cowden syndrome 1 | Enrichment | EGFR | 1.23 |
| 343 | Split-hand/foot malformation 1 | Enrichment | FGFR2 | 1.23 |
| 344 | Testicular germ cell tumor | Enrichment | FGFR3 | 1.23 |
| 345 | 46,xy disorder of sex development | Enrichment | FGFR3 | 1.23 |
| 346 | Cardiomyopathy, familial hypertrophic, 4 | Enrichment | MYH7 | 1.18 |
| 347 | Nephrotic syndrome, type 1 | Enrichment | PLCE1 | 1.18 |
| 348 | Developmental and epileptic encephalopathy 14 | Enrichment | PLCB1 | 1.18 |
| 349 | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | Enrichment | RAC1 | 1.18 |
| 350 | Familial isolated arrhythmogenic right ventricular dysplasia | Enrichment | MYH7 | 1.18 |
| 351 | Familial thoracic aortic aneurysm and dissection | Enrichment | MYH11 | 1.18 |
| 352 | Nevus, epidermal | Enrichment | FGFR3 | 1.16 |
| 353 | Squamous cell carcinoma, head and neck | Enrichment | EGFR | 1.16 |
| 354 | Renal cell carcinoma, papillary, 1 | Enrichment | MET | 1.16 |
| 355 | Pilomyxoid astrocytoma | Enrichment | FGFR1 | 1.16 |
| 356 | Hypophosphatemic rickets | Enrichment | FGF23 | 1.16 |
| 357 | Gastric cancer | Enrichment | CASP10, FGFR2 | 1.15 |
| 358 | Cat eye syndrome | Enrichment | ACTG1 | 1.14 |
| 359 | Autosomal non-syndromic agammaglobulinemia | Enrichment | PIK3R1 | 1.14 |
| 360 | Lennox-gastaut syndrome | Enrichment | MAPK10 | 1.10 |
| 361 | Mosaic variegated aneuploidy syndrome | Enrichment | PAK6 | 1.10 |
| 362 | Immune deficiency disease | Enrichment | SYK | 1.10 |
| 363 | Usher syndrome type 2 | Enrichment | MYO7A | 1.10 |
| 364 | Presynaptic congenital myasthenic syndromes | Enrichment | MYO9A | 1.10 |
| 365 | Restrictive cardiomyopathy | Enrichment | MYH7 | 1.06 |
| 366 | Orofacial cleft 1 | Enrichment | FGF10 | 1.06 |
| 367 | Adult hepatocellular carcinoma | Enrichment | EGF | 1.06 |
| 368 | Hypogonadotropic hypogonadism | Enrichment | FGFR1 | 1.06 |
| 369 | Renal agenesis, bilateral | Enrichment | FGF20 | 1.06 |
| 370 | Microphthalmia/coloboma 12 | Enrichment | MYH10 | 1.03 |
| 371 | Meier-gorlin syndrome 1 | Enrichment | FGFR2 | 1.01 |
| 372 | Aplastic anemia | Enrichment | PRF1 | 1.01 |
| 373 | Primary bone dysplasia | Enrichment | FGFR3 | 1.01 |
| 374 | Hypertelorism | Enrichment | FGFR2, MYH10 | 1.01 |
| 375 | Aortic aneurysm, familial thoracic 1 | Enrichment | MYH11 | 1.00 |
| 376 | Heart disease | Enrichment | MYL2 | 1.00 |
| 377 | Osteochondrodysplasia | Enrichment | FGFR3 | 0.97 |
| 378 | Lung non-small cell carcinoma | Enrichment | EGFR | 0.97 |
| 379 | Coloboma of macula | Enrichment | MYH10 | 0.97 |
| 380 | Usher syndrome, type i | Enrichment | MYO7A | 0.97 |
| 381 | Myopia | Enrichment | MYH11 | 0.97 |
| 382 | Myeloma, multiple | Enrichment | FGFR3, PIK3R2 | 0.95 |
| 383 | Wolff-parkinson-white syndrome | Enrichment | MYH7 | 0.94 |
| 384 | Hypertension | Enrichment | MYH9 | 0.94 |
| 385 | Septooptic dysplasia | Enrichment | FGFR1 | 0.94 |
| 386 | Renal hypodysplasia/aplasia 3 | Enrichment | FGFR3 | 0.94 |
| 387 | Lip and oral cavity carcinoma | Enrichment | EGFR | 0.94 |
| 388 | Heart, malformation of | Enrichment | MYH6 | 0.90 |
| 389 | Patent foramen ovale | Enrichment | MYH6 | 0.90 |
| 390 | Hypogonadotropic hypogonadism 7 with or without anosmia | Enrichment | FGFR1 | 0.87 |
| 391 | Generalized epilepsy with febrile seizures plus | Enrichment | FGF13 | 0.87 |
| 392 | Focal segmental glomerulosclerosis | Enrichment | PLCE1 | 0.85 |
| 393 | Renal cell carcinoma, nonpapillary | Enrichment | MET | 0.85 |
| 394 | Hydrocephalus | Enrichment | FGFR2 | 0.85 |
| 395 | Septopreoptic holoprosencephaly | Enrichment | FGF8 | 0.85 |
| 396 | Midline interhemispheric variant of holoprosencephaly | Enrichment | FGF8 | 0.85 |
| 397 | Lissencephaly | Enrichment | ACTG1 | 0.83 |
| 398 | Centronuclear myopathy | Enrichment | ACTA1 | 0.83 |
| 399 | Malaria | Enrichment | FCGR2A | 0.80 |
| 400 | Alobar holoprosencephaly | Enrichment | FGF8 | 0.80 |
| 401 | Familial atrial fibrillation | Enrichment | MYL4 | 0.78 |
| 402 | Arteriovenous malformations of the brain | Enrichment | EGFR | 0.75 |
| 403 | Hydrops fetalis, nonimmune | Enrichment | ACTA1 | 0.75 |
| 404 | Auditory neuropathy | Enrichment | MYO7A | 0.75 |
| 405 | Endometrial cancer | Enrichment | FGFR2 | 0.71 |
| 406 | Hepatoblastoma | Enrichment | FGFR3 | 0.71 |
| 407 | Hepatocellular carcinoma | Enrichment | MET | 0.70 |
| 408 | Tooth agenesis | Enrichment | FGFR1 | 0.70 |
| 409 | Long qt syndrome | Enrichment | MYH6 | 0.68 |
| 410 | Non-immune hydrops fetalis | Enrichment | ACTA1 | 0.68 |
| 411 | Cystic fibrosis | Enrichment | FCGR2A | 0.67 |
| 412 | Connective tissue disease | Enrichment | ACTA2 | 0.67 |
| 413 | Autoinflammatory disease | Enrichment | PRF1 | 0.66 |
| 414 | Usher syndrome | Enrichment | MYO7A | 0.66 |
| 415 | Cakut | Enrichment | ACTG1 | 0.64 |
| 416 | Dystonia | Enrichment | MYO5A | 0.63 |
| 417 | Microcephaly | Enrichment | ACTB, ACTG1 | 0.63 |
| 418 | Complex neurodevelopmental disorder | Enrichment | MYH10, RAC3 | 0.62 |
| 419 | Fetal akinesia deformation sequence 1 | Enrichment | ACTA1 | 0.61 |
| 420 | Severe covid-19 | Enrichment | CASP10 | 0.59 |
| 421 | Benign epilepsy with centrotemporal spikes | Enrichment | PLCB1 | 0.57 |
| 422 | Ovarian cancer | Enrichment | EGFR, MET | 0.56 |
| 423 | Centralopathic epilepsy | Enrichment | PLCB1 | 0.56 |
| 424 | West syndrome | Enrichment | PLCB1 | 0.55 |
| 425 | Thrombocytopenia | Enrichment | MYH9 | 0.52 |
| 426 | Non-syndromic x-linked intellectual disability | Enrichment | ARHGEF6 | 0.51 |
| 427 | Developmental and epileptic encephalopathy | Enrichment | ARHGEF15 | 0.51 |
| 428 | Body mass index quantitative trait locus 11 | Enrichment | MYH9 | 0.50 |
| 429 | Hereditary breast ovarian cancer syndrome | Enrichment | MYO7A | 0.47 |
| 430 | Charcot-marie-tooth disease | Enrichment | ARHGEF10 | 0.46 |
| 431 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 | Enrichment | PFN1 | 0.45 |
| 432 | Inherited cancer-predisposing syndrome | Enrichment | EGFR, MET | 0.41 |
| 433 | Male infertility with azoospermia or oligozoospermia due to single gene mutation | Enrichment | FGF8 | 0.36 |
| 434 | Undetermined early-onset epileptic encephalopathy | Enrichment | FGF12 | 0.36 |
| 435 | Primary ovarian insufficiency | Enrichment | KDR | 0.34 |
| 436 | Breast cancer | Enrichment | JUN | 0.27 |
| 437 | Congenital nervous system abnormality | Enrichment | FGFR3 | 0.18 |
| 438 | Nervous system disease | Enrichment | FGFR3 | 0.18 |
| 439 | Retinitis pigmentosa | Enrichment | MYO7A | 0.10 |
| 440 | Hereditary retinal dystrophy | Enrichment | MYO7A | 0.05 |
| 441 | Fundus dystrophy | Enrichment | MYO7A | 0.05 |