| 1 | Loeys-dietz syndrome | Enrichment | FBN1, SMAD3, TGFB2, TGFB3 | 6.97 |
| 2 | Familial thoracic aortic aneurysm and aortic dissection | Enrichment | COL1A1, ELN, FBN1, SMAD3, TGFB2, TGFB3 | 6.86 |
| 3 | Ehlers-danlos syndrome | Enrichment | COL1A1, COL1A2, SMAD3, TGFB2 | 5.50 |
| 4 | Primary bone dysplasia | Enrichment | COL1A1, COL1A2, FGFR3 | 4.72 |
| 5 | Osteochondrodysplasia | Enrichment | COL1A1, COL1A2, FGFR3 | 4.59 |
| 6 | Cervical cancer | Enrichment | FGFR3, TP53 | 4.52 |
| 7 | Pfeiffer syndrome | Enrichment | FGFR1, FGFR2 | 4.52 |
| 8 | Jackson-weiss syndrome | Enrichment | FGFR1, FGFR2 | 4.52 |
| 9 | Ehlers-danlos syndrome, arthrochalasia type, 2 | Enrichment | COL1A1, COL1A2 | 4.52 |
| 10 | Loeys-dietz syndrome 4 | Enrichment | TGFB2, TGFB3 | 4.52 |
| 11 | Cervix carcinoma | Enrichment | FGFR3, TP53 | 4.52 |
| 12 | Ehlers-danlos/osteogenesis imperfecta syndrome | Enrichment | COL1A1, COL1A2 | 4.52 |
| 13 | Osteogenesis imperfecta, type iii | Enrichment | COL1A1, COL1A2, SERPINH1 | 4.15 |
| 14 | Gliosarcoma | Enrichment | FGFR1, FGFR3, TP53 | 4.06 |
| 15 | Crouzon syndrome | Enrichment | FGFR2, FGFR3 | 4.04 |
| 16 | Lacrimoauriculodentodigital syndrome 1 | Enrichment | FGFR2, FGFR3 | 4.04 |
| 17 | Achondroplasia | Enrichment | FBN1, FGFR3 | 4.04 |
| 18 | High bone mass osteogenesis imperfecta | Enrichment | COL1A1, COL1A2 | 4.04 |
| 19 | Giant cell glioblastoma | Enrichment | FGFR1, FGFR3, TP53 | 3.98 |
| 20 | Colorectal cancer | Enrichment | AKT1, BAX, FGFR2, FGFR3, TP53 | 3.93 |
| 21 | Ehlers-danlos syndrome, arthrochalasia type, 1 | Enrichment | COL1A1, COL1A2 | 3.75 |
| 22 | Saethre-chotzen syndrome | Enrichment | FGFR2, FGFR3 | 3.75 |
| 23 | Aortic aneurysm | Enrichment | FBN1, SMAD3 | 3.75 |
| 24 | Cerebral malaria | Enrichment | ICAM1, TNF | 3.75 |
| 25 | Osteogenesis imperfecta with normal sclerae, dominant form | Enrichment | COL1A1, COL1A2 | 3.75 |
| 26 | Hemifacial hyperplasia | Enrichment | FGFR2, FGFR3 | 3.53 |
| 27 | Primary hypereosinophilic syndrome | Enrichment | FGFR1, PDGFRB | 3.53 |
| 28 | Ehlers-danlos syndrome, classic type, 1 | Enrichment | COL1A1, COL1A2 | 3.35 |
| 29 | Osteogenesis imperfecta, type i | Enrichment | COL1A1, COL1A2 | 3.35 |
| 30 | Breast adenocarcinoma | Enrichment | AKT1, TP53 | 3.35 |
| 31 | Classic ehlers-danlos syndrome | Enrichment | COL1A1, COL1A2 | 3.35 |
| 32 | Osteogenesis imperfecta, type ii | Enrichment | COL1A1, COL1A2 | 3.21 |
| 33 | Connective tissue disease | Enrichment | FBN1, FGFR3, SMAD3 | 3.14 |
| 34 | Adult hepatocellular carcinoma | Enrichment | EGF, TP53 | 2.98 |
| 35 | Familial thoracic aortic aneurysm and dissection | Enrichment | FBN1, SMAD3 | 2.98 |
| 36 | Marfan syndrome | Enrichment | FBN1, TGFB2 | 2.88 |
| 37 | Gastric cancer | Enrichment | FGFR2, IL1B, TP53 | 2.77 |
| 38 | Osteogenesis imperfecta, type iv | Enrichment | COL1A1, COL1A2 | 2.65 |
| 39 | Osteoporosis | Enrichment | COL1A1, COL1A2 | 2.58 |
| 40 | Aortic aneurysm, familial thoracic 1 | Enrichment | FBN1, SMAD3 | 2.58 |
| 41 | Hypertelorism | Enrichment | COL1A1, ELN, FGFR2 | 2.53 |
| 42 | Hydrocephalus | Enrichment | FGFR2, PDGFRB | 2.52 |
| 43 | Human immunodeficiency virus type 1 | Enrichment | CCL2, CXCL12 | 2.36 |
| 44 | Diffuse large b-cell lymphoma | Enrichment | MYD88, TP53 | 2.31 |
| 45 | Craniosynostosis | Enrichment | FGFR2, FGFR3 | 2.27 |
| 46 | Hypochondroplasia | Enrichment | FGFR3 | 2.26 |
| 47 | Proteus syndrome | Enrichment | AKT1 | 2.26 |
| 48 | Beare-stevenson cutis gyrata syndrome | Enrichment | FGFR2 | 2.26 |
| 49 | Ectopia lentis 1, isolated, autosomal dominant | Enrichment | FBN1 | 2.26 |
| 50 | Osteoglophonic dysplasia | Enrichment | FGFR1 | 2.26 |
| 51 | Thanatophoric dysplasia, type i | Enrichment | FGFR3 | 2.26 |
| 52 | Trigonocephaly 1 | Enrichment | FGFR1 | 2.26 |
| 53 | Ehlers-danlos syndrome, cardiac valvular type | Enrichment | COL1A2 | 2.26 |
| 54 | Bamforth-lazarus syndrome | Enrichment | FOXE1 | 2.26 |
| 55 | Mal de meleda | Enrichment | SLURP1 | 2.26 |
| 56 | Muenke syndrome | Enrichment | FGFR3 | 2.26 |
| 57 | Premature aging syndrome, penttinen type | Enrichment | PDGFRB | 2.26 |
| 58 | Hypomagnesemia 4, renal | Enrichment | EGF | 2.26 |
| 59 | Immunodeficiency 68 | Enrichment | MYD88 | 2.26 |
| 60 | Deafness, autosomal recessive 39 | Enrichment | HGF | 2.26 |
| 61 | Scaphocephaly, maxillary retrusion, and impaired intellectual development | Enrichment | FGFR2 | 2.26 |
| 62 | Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia | Enrichment | HMGB1 | 2.26 |
| 63 | Macroglobulinemia, waldenstrom 1 | Enrichment | MYD88 | 2.26 |
| 64 | Congenital myopathy 2a, typical, autosomal dominant | Enrichment | ACTA1 | 2.26 |
| 65 | Apert syndrome | Enrichment | FGFR2 | 2.26 |
| 66 | Yt blood group antigen | Enrichment | ACHE | 2.26 |
| 67 | Myofibromatosis, infantile, 1 | Enrichment | PDGFRB | 2.26 |
| 68 | Thanatophoric dysplasia, type ii | Enrichment | FGFR3 | 2.26 |
| 69 | Myopathy, scapulohumeroperoneal | Enrichment | ACTA1 | 2.26 |
| 70 | Weill-marchesani syndrome 2 | Enrichment | FBN1 | 2.26 |
| 71 | Deafness, autosomal dominant 56 | Enrichment | TNC | 2.26 |
| 72 | Osteogenesis imperfecta, type x | Enrichment | SERPINH1 | 2.26 |
| 73 | Pachyonychia congenita 3 | Enrichment | KRT6A | 2.26 |
| 74 | Camptodactyly, tall stature, and hearing loss syndrome | Enrichment | FGFR3 | 2.26 |
| 75 | Whim syndrome 1 | Enrichment | CXCR4 | 2.26 |
| 76 | Geleophysic dysplasia 2 | Enrichment | FBN1 | 2.26 |
| 77 | Protrusio acetabuli | Enrichment | FBN1 | 2.26 |
| 78 | Bent bone dysplasia syndrome 1 | Enrichment | FGFR2 | 2.26 |
| 79 | Cornelia de lange syndrome 6 | Enrichment | BRD4 | 2.26 |
| 80 | Bone marrow failure syndrome 5 | Enrichment | TP53 | 2.26 |
| 81 | Combined osteogenesis imperfecta and ehlers-danlos syndrome 2 | Enrichment | COL1A2 | 2.26 |
| 82 | Papilloma of choroid plexus | Enrichment | TP53 | 2.26 |
| 83 | Basal cell carcinoma 7 | Enrichment | TP53 | 2.26 |
| 84 | Lymphoplasmacytic lymphoma | Enrichment | FBN1 | 2.26 |
| 85 | Anaplastic thyroid carcinoma | Enrichment | TP53 | 2.26 |
| 86 | Immunodeficiency 18 | Enrichment | CD3E | 2.26 |
| 87 | Microvascular complications of diabetes 1 | Enrichment | VEGFA | 2.26 |
| 88 | Ovary adenocarcinoma | Enrichment | INHBA | 2.26 |
| 89 | Crouzon syndrome with acanthosis nigricans | Enrichment | FGFR3 | 2.26 |
| 90 | Camurati-engelmann disease 2 | Enrichment | TGFB2 | 2.26 |
| 91 | Congenital myopathy 2b, severe infantile, autosomal recessive | Enrichment | ACTA1 | 2.26 |
| 92 | Basal ganglia calcification, idiopathic, 4 | Enrichment | PDGFRB | 2.26 |
| 93 | Cowden syndrome 6 | Enrichment | AKT1 | 2.26 |
| 94 | Myeloid and lymphoid neoplasms associated with pdgfrb rearrangement | Enrichment | PDGFRB | 2.26 |
| 95 | Macular degeneration, age-related, 10 | Enrichment | TLR4 | 2.26 |
| 96 | Factor xiii, a subunit, deficiency of | Enrichment | F13A1 | 2.26 |
| 97 | Achondroplasia, severe, with developmental delay and acanthosis nigricans | Enrichment | FGFR3 | 2.26 |
| 98 | Ductal carcinoma in situ | Enrichment | TP53 | 2.26 |
| 99 | Kosaki overgrowth syndrome | Enrichment | PDGFRB | 2.26 |
| 100 | Hartsfield syndrome | Enrichment | FGFR1 | 2.26 |
| 101 | Loeys-dietz syndrome 5 | Enrichment | TGFB3 | 2.26 |
| 102 | Thyroid cancer, nonmedullary, 4 | Enrichment | FOXE1 | 2.26 |
| 103 | Congenital myopathy 2c, severe infantile, autosomal dominant | Enrichment | ACTA1 | 2.26 |
| 104 | Ocular pterygium-digital keloid dysplasia syndrome | Enrichment | PDGFRB | 2.26 |
| 105 | Thyroid gland undifferentiated carcinoma | Enrichment | TP53 | 2.26 |
| 106 | Asphyxia neonatorum | Enrichment | COL1A1 | 2.26 |
| 107 | Whim syndrome 2 | Enrichment | CXCR2 | 2.26 |
| 108 | Small-cell carcinoma of the ovary of hypercalcemic type | Enrichment | TP53 | 2.26 |
| 109 | Lacrimoauriculodentodigital syndrome 2 | Enrichment | FGFR3 | 2.26 |
| 110 | Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtype | Enrichment | TP53 | 2.26 |
| 111 | Choroid plexus cancer | Enrichment | TP53 | 2.26 |
| 112 | Zebra body myopathy | Enrichment | ACTA1 | 2.26 |
| 113 | Fgfr3-related chondrodysplasia | Enrichment | FGFR3 | 2.26 |
| 114 | Waldenstram macroglobulinemia | Enrichment | MYD88 | 2.26 |
| 115 | Autosomal recessive severe congenital neutropenia due to cxcr2 deficiency | Enrichment | CXCR2 | 2.26 |
| 116 | Camptodactyly-tall stature-scoliosis-hearing loss syndrome | Enrichment | FGFR3 | 2.26 |
| 117 | Pleomorphic xanthoastrocytoma | Enrichment | TP53 | 2.26 |
| 118 | Neonatal marfan syndrome | Enrichment | FBN1 | 2.26 |
| 119 | Actin-accumulation myopathy | Enrichment | ACTA1 | 2.26 |
| 120 | Hartsfield-bixler-demyer syndrome | Enrichment | FGFR1 | 2.26 |
| 121 | Egf-related primary hypomagnesemia with intellectual disability | Enrichment | EGF | 2.26 |
| 122 | Non-syndromic unicoronal craniosynostosis | Enrichment | FGFR2 | 2.26 |
| 123 | Hepatoblastoma | Enrichment | FGFR3, TP53 | 2.23 |
| 124 | Brittle bone disorder | Enrichment | COL1A1, COL1A2 | 2.15 |
| 125 | Malaria | Enrichment | ICAM1, TNF | 2.15 |
| 126 | Acromicric dysplasia | Enrichment | FBN1 | 1.96 |
| 127 | Epiphyseal dysplasia, multiple, 1 | Enrichment | COL1A1 | 1.96 |
| 128 | Cutis laxa, autosomal dominant 1 | Enrichment | ELN | 1.96 |
| 129 | Myeloproliferative disorder, chronic, with eosinophilia | Enrichment | PDGFRB | 1.96 |
| 130 | Ichthyosis vulgaris | Enrichment | FLG | 1.96 |
| 131 | Adrenocortical carcinoma, hereditary | Enrichment | TP53 | 1.96 |
| 132 | Camurati-engelmann disease 1 | Enrichment | TGFB1 | 1.96 |
| 133 | Bruck syndrome 1 | Enrichment | COL1A2 | 1.96 |
| 134 | Stiff skin syndrome | Enrichment | FBN1 | 1.96 |
| 135 | Dermatofibrosarcoma protuberans | Enrichment | COL1A1 | 1.96 |
| 136 | Piebald trait | Enrichment | SNAI2 | 1.96 |
| 137 | Corneal dystrophy, congenital stromal | Enrichment | DCN | 1.96 |
| 138 | Dermatitis, atopic, 2 | Enrichment | FLG | 1.96 |
| 139 | Aural atresia, congenital | Enrichment | FGFR2 | 1.96 |
| 140 | Keratosis, seborrheic | Enrichment | FGFR3 | 1.96 |
| 141 | Encephalocraniocutaneous lipomatosis | Enrichment | FGFR1 | 1.96 |
| 142 | Beaulieu-boycott-innes syndrome | Enrichment | FBN1 | 1.96 |
| 143 | Lymphoma, hodgkin, classic | Enrichment | TP53 | 1.96 |
| 144 | Immunodeficiency, common variable, 12, with autoimmunity | Enrichment | NFKB1 | 1.96 |
| 145 | Albinism, oculocutaneous, type ia | Enrichment | NOX4 | 1.96 |
| 146 | Loeys-dietz syndrome 3 | Enrichment | SMAD3 | 1.96 |
| 147 | Supravalvular aortic stenosis | Enrichment | ELN | 1.96 |
| 148 | Antley-bixler syndrome without genital anomalies or disordered steroidogenesis | Enrichment | FGFR2 | 1.96 |
| 149 | Encephalopathy, acute, infection-induced 10 | Enrichment | TPT1 | 1.96 |
| 150 | Combined osteogenesis imperfecta and ehlers-danlos syndrome 1 | Enrichment | COL1A1 | 1.96 |
| 151 | Inflammatory bowel disease, immunodeficiency, and encephalopathy | Enrichment | TGFB1 | 1.96 |
| 152 | Infantile myofibromatosis | Enrichment | PDGFRB | 1.96 |
| 153 | Intravascular large b-cell lymphoma | Enrichment | BCL2 | 1.96 |
| 154 | Ichthyosis, x-linked | Enrichment | FLG | 1.96 |
| 155 | Nut midline carcinoma | Enrichment | BRD4 | 1.96 |
| 156 | Immunodeficiency 127 | Enrichment | TNF | 1.96 |
| 157 | Aortic dissection | Enrichment | FBN1 | 1.96 |
| 158 | Recessive dystrophic epidermolysis bullosa | Enrichment | MMP1 | 1.96 |
| 159 | Marfanoid-progeroid-lipodystrophy syndrome | Enrichment | FBN1 | 1.96 |
| 160 | Split hand-foot malformation | Enrichment | FGFR2 | 1.96 |
| 161 | Rosette-forming glioneuronal tumor | Enrichment | FGFR1 | 1.96 |
| 162 | Preterm premature rupture of the membranes | Enrichment | SERPINH1 | 1.96 |
| 163 | Chromosome 15q13.3 deletion syndrome | Enrichment | CHRNA7 | 1.96 |
| 164 | Camurati-engelmann disease | Enrichment | TGFB1 | 1.96 |
| 165 | Dermatitis | Enrichment | FLG | 1.96 |
| 166 | Congenital fibrosarcoma | Enrichment | TP53 | 1.96 |
| 167 | Metaphyseal anadysplasia 2 | Enrichment | MMP9 | 1.96 |
| 168 | Stickler syndrome, type ii | Enrichment | COL1A1 | 1.96 |
| 169 | Li-fraumeni syndrome 1 | Enrichment | TP53 | 1.96 |
| 170 | Sarcoma | Enrichment | TP53 | 1.96 |
| 171 | Hodgkin's lymphoma | Enrichment | TP53 | 1.96 |
| 172 | Interfrontal craniofaciosynostosis | Enrichment | FGFR1 | 1.96 |
| 173 | Metaphyseal anadysplasia | Enrichment | MMP9 | 1.96 |
| 174 | Autosomal dominant nonsyndromic deafness | Enrichment | FGFR2 | 1.96 |
| 175 | 3q26 microduplication syndrome | Enrichment | BRD4 | 1.96 |
| 176 | Dentinogenesis imperfecta | Enrichment | COL1A2 | 1.96 |
| 177 | Transient predisposition to invasive pyogenic bacterial infection | Enrichment | MYD88 | 1.96 |
| 178 | Common variable immunodeficiency 12 | Enrichment | NFKB1 | 1.96 |
| 179 | Factor xiii deficiency | Enrichment | F13A1 | 1.96 |
| 180 | Lens subluxation | Enrichment | FBN1 | 1.96 |
| 181 | Pleomorphic rhabdomyosarcoma | Enrichment | TP53 | 1.96 |
| 182 | Bladder cancer | Enrichment | FGFR3, TP53 | 1.95 |
| 183 | Contractural arachnodactyly, congenital | Enrichment | FBN1 | 1.78 |
| 184 | Mccune-albright syndrome | Enrichment | FBN1 | 1.78 |
| 185 | Hypogonadotropic hypogonadism 2 with or without anosmia | Enrichment | FGFR1 | 1.78 |
| 186 | Larsen syndrome | Enrichment | FGFR3 | 1.78 |
| 187 | Multicentric osteolysis, nodulosis, and arthropathy | Enrichment | MMP2 | 1.78 |
| 188 | Osteogenic sarcoma | Enrichment | TP53 | 1.78 |
| 189 | Psoriatic arthritis | Enrichment | TNF | 1.78 |
| 190 | Nasopharyngeal carcinoma | Enrichment | TP53 | 1.78 |
| 191 | Caffey disease | Enrichment | COL1A1 | 1.78 |
| 192 | Chromosome 8p11 myeloproliferative syndrome | Enrichment | FGFR1 | 1.78 |
| 193 | Weill-marchesani syndrome 1 | Enrichment | FBN1 | 1.78 |
| 194 | High-grade b-cell lymphoma double-hit/triple-hit | Enrichment | BCL2 | 1.78 |
| 195 | Isolated ectopia lentis | Enrichment | FBN1 | 1.78 |
| 196 | Autosomal dominant cutis laxa | Enrichment | ELN | 1.78 |
| 197 | Hamartoma | Enrichment | FGFR3 | 1.78 |
| 198 | Atypical teratoid rhabdoid tumor | Enrichment | TP53 | 1.78 |
| 199 | Testicular germ cell cancer | Enrichment | FGFR3 | 1.78 |
| 200 | Anaplastic astrocytoma | Enrichment | TP53 | 1.78 |
| 201 | Squamous cell carcinoma | Enrichment | TP53 | 1.78 |
| 202 | T-cell acute lymphoblastic leukemia | Enrichment | BAX | 1.78 |
| 203 | Adenocarcinoma | Enrichment | TP53 | 1.78 |
| 204 | Migraine without aura | Enrichment | TNF | 1.78 |
| 205 | Bone osteosarcoma | Enrichment | TP53 | 1.78 |
| 206 | Spermatocytoma | Enrichment | FGFR3 | 1.78 |
| 207 | Geleophysic dysplasia | Enrichment | FBN1 | 1.78 |
| 208 | T-b+ severe combined immunodeficiency due to cd3delta/cd3epsilon/cd3zeta | Enrichment | CD3E | 1.78 |
| 209 | Familial papillary or follicular thyroid carcinoma | Enrichment | FOXE1 | 1.78 |
| 210 | Testicular cancer | Enrichment | FGFR3 | 1.78 |
| 211 | Myopathy | Enrichment | ACTA1, FBN1 | 1.69 |
| 212 | Kaposi sarcoma | Enrichment | IL6 | 1.66 |
| 213 | Pachyonychia congenita 1 | Enrichment | KRT6A | 1.66 |
| 214 | Small cell cancer of the lung | Enrichment | TP53 | 1.66 |
| 215 | Nemaline myopathy 2 | Enrichment | ACTA1 | 1.66 |
| 216 | Phenylketonuria | Enrichment | COL1A1 | 1.66 |
| 217 | Thyroid cancer, nonmedullary, 1 | Enrichment | TP53 | 1.66 |
| 218 | Dermatitis, atopic | Enrichment | FLG | 1.66 |
| 219 | Lung sarcomatoid carcinoma | Enrichment | TP53 | 1.66 |
| 220 | Weill-marchesani syndrome | Enrichment | FBN1 | 1.66 |
| 221 | Embryonal rhabdomyosarcoma | Enrichment | TP53 | 1.66 |
| 222 | Mitral valve insufficiency | Enrichment | FBN1 | 1.66 |
| 223 | Non-syndromic bicoronal craniosynostosis | Enrichment | FGFR3 | 1.66 |
| 224 | Intermediate nemaline myopathy | Enrichment | ACTA1 | 1.66 |
| 225 | Systemic-onset juvenile idiopathic arthritis | Enrichment | IL6 | 1.66 |
| 226 | Glioma | Enrichment | FGFR2 | 1.66 |
| 227 | Hereditary breast carcinoma | Enrichment | AKT1, TP53 | 1.61 |
| 228 | Polycystic liver disease 1 with or without kidney cysts | Enrichment | FBN1 | 1.56 |
| 229 | Arrhythmogenic right ventricular dysplasia, familial, 1 | Enrichment | TGFB3 | 1.56 |
| 230 | Arthrogryposis, renal dysfunction, and cholestasis 1 | Enrichment | FBN1 | 1.56 |
| 231 | Congenital myopathy 3 with rigid spine | Enrichment | ACTA1 | 1.56 |
| 232 | Rhabdomyosarcoma 2 | Enrichment | TP53 | 1.56 |
| 233 | Rheumatoid arthritis, systemic juvenile | Enrichment | IL6 | 1.56 |
| 234 | Goldberg-shprintzen syndrome | Enrichment | FBN1 | 1.56 |
| 235 | Follicular lymphoma | Enrichment | BCL2 | 1.56 |
| 236 | Lymphoma | Enrichment | TP53 | 1.56 |
| 237 | Polycystic liver disease 1 | Enrichment | FBN1 | 1.56 |
| 238 | Holoprosencephaly | Enrichment | FGFR1 | 1.56 |
| 239 | Arrhythmogenic right ventricular dysplasia 1 | Enrichment | TGFB3 | 1.56 |
| 240 | Vascular dementia | Enrichment | TNF | 1.56 |
| 241 | Acute megakaryocytic leukemia | Enrichment | TP53 | 1.56 |
| 242 | Severe congenital nemaline myopathy | Enrichment | ACTA1 | 1.56 |
| 243 | Atrial septal defect 1 | Enrichment | TGFB2 | 1.49 |
| 244 | Li-fraumeni syndrome | Enrichment | TP53 | 1.49 |
| 245 | Split-hand/foot malformation 1 | Enrichment | FGFR2 | 1.49 |
| 246 | Holoprosencephaly 1 | Enrichment | FGFR1 | 1.49 |
| 247 | Type 1 diabetes mellitus | Enrichment | IL6 | 1.49 |
| 248 | Testicular germ cell tumor | Enrichment | FGFR3 | 1.49 |
| 249 | Inflammatory bowel disease 25, autosomal recessive | Enrichment | TGFB1 | 1.49 |
| 250 | Inguinal hernia | Enrichment | FBN1 | 1.49 |
| 251 | Keratoconus | Enrichment | COL1A1 | 1.49 |
| 252 | Adrenocortical carcinoma | Enrichment | TP53 | 1.49 |
| 253 | Il10-related early-onset inflammatory bowel disease | Enrichment | TGFB1 | 1.49 |
| 254 | Lung squamous cell carcinoma | Enrichment | FGFR3 | 1.49 |
| 255 | 46,xy disorder of sex development | Enrichment | FGFR3 | 1.49 |
| 256 | Typical nemaline myopathy | Enrichment | ACTA1 | 1.49 |
| 257 | Esophageal cancer | Enrichment | TP53 | 1.42 |
| 258 | Nevus, epidermal | Enrichment | FGFR3 | 1.42 |
| 259 | Hypothyroidism, congenital, nongoitrous, 2 | Enrichment | FOXE1 | 1.42 |
| 260 | Thrombophilia due to thrombin defect | Enrichment | F13A1 | 1.42 |
| 261 | Squamous cell carcinoma, head and neck | Enrichment | TP53 | 1.42 |
| 262 | Brugada syndrome 1 | Enrichment | FBN1 | 1.42 |
| 263 | Waardenburg syndrome, type 2e | Enrichment | SNAI2 | 1.42 |
| 264 | Essential thrombocythemia | Enrichment | TP53 | 1.42 |
| 265 | Gallbladder cancer | Enrichment | TP53 | 1.42 |
| 266 | Pilomyxoid astrocytoma | Enrichment | FGFR1 | 1.42 |
| 267 | Common variable immunodeficiency | Enrichment | NFKB1 | 1.42 |
| 268 | Childhood-onset nemaline myopathy | Enrichment | ACTA1 | 1.42 |
| 269 | Paroxysmal dystonia | Enrichment | FLG | 1.42 |
| 270 | B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) | Enrichment | TP53 | 1.42 |
| 271 | Myeloma, multiple | Enrichment | FGFR3, TP53 | 1.42 |
| 272 | Glioma susceptibility 1 | Enrichment | TP53 | 1.36 |
| 273 | Basal ganglia calcification, idiopathic, 1 | Enrichment | PDGFRB | 1.36 |
| 274 | Lymphoma, non-hodgkin, familial | Enrichment | TP53 | 1.36 |
| 275 | Orthostatic intolerance | Enrichment | FBN1 | 1.36 |
| 276 | Cornelia de lange syndrome 1 | Enrichment | BRD4 | 1.31 |
| 277 | Inflammatory bowel disease 1 | Enrichment | IL6 | 1.31 |
| 278 | Hypogonadotropic hypogonadism | Enrichment | FGFR1 | 1.31 |
| 279 | Primary hyperaldosteronism | Enrichment | TP53 | 1.31 |
| 280 | Cornelia de lange syndrome | Enrichment | BRD4 | 1.31 |
| 281 | Cowden syndrome | Enrichment | AKT1 | 1.31 |
| 282 | Leukemia, chronic lymphocytic | Enrichment | TP53 | 1.27 |
| 283 | Meier-gorlin syndrome 1 | Enrichment | FGFR2 | 1.27 |
| 284 | Stroke, ischemic | Enrichment | FBN1 | 1.27 |
| 285 | Ciliary dyskinesia, primary, 3 | Enrichment | NFKB1 | 1.27 |
| 286 | Nemaline myopathy | Enrichment | ACTA1 | 1.27 |
| 287 | Melanoma | Enrichment | FBN1 | 1.27 |
| 288 | Familial colorectal cancer | Enrichment | TP53 | 1.27 |
| 289 | Pectus excavatum | Enrichment | FBN1 | 1.23 |
| 290 | Asthma | Enrichment | TNF | 1.23 |
| 291 | Myelodysplastic syndrome | Enrichment | TP53 | 1.23 |
| 292 | Ichthyosis | Enrichment | FLG | 1.23 |
| 293 | Septooptic dysplasia | Enrichment | FGFR1 | 1.19 |
| 294 | Renal hypodysplasia/aplasia 3 | Enrichment | FGFR3 | 1.19 |
| 295 | Meningioma | Enrichment | AKT1 | 1.19 |
| 296 | Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant | Enrichment | TGFB3 | 1.19 |
| 297 | Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant | Enrichment | TGFB3 | 1.19 |
| 298 | Lip and oral cavity carcinoma | Enrichment | TP53 | 1.19 |
| 299 | Breast cancer | Enrichment | AKT1, TP53 | 1.19 |
| 300 | Diaphragmatic hernia, congenital | Enrichment | FBN1 | 1.16 |
| 301 | Alzheimer's disease | Enrichment | TNF | 1.16 |
| 302 | Oligospermia | Enrichment | CDK16 | 1.16 |
| 303 | Dilated cardiomyopathy | Enrichment | ACTA1, FBN1 | 1.14 |
| 304 | Hypogonadotropic hypogonadism 7 with or without anosmia | Enrichment | FGFR1 | 1.13 |
| 305 | Lung cancer susceptibility 3 | Enrichment | TP53 | 1.13 |
| 306 | Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant | Enrichment | TGFB3 | 1.13 |
| 307 | Congenital myopathy 4a, autosomal dominant | Enrichment | ACTA1 | 1.10 |
| 308 | Myopia | Enrichment | FBN1 | 1.10 |
| 309 | Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay | Enrichment | FLG | 1.07 |
| 310 | Perrault syndrome 1 | Enrichment | FBN1 | 1.07 |
| 311 | Rhabdomyosarcoma | Enrichment | TP53 | 1.07 |
| 312 | Microform holoprosencephaly | Enrichment | FGFR1 | 1.07 |
| 313 | Lobar holoprosencephaly | Enrichment | FGFR1 | 1.07 |
| 314 | Dandy-walker syndrome | Enrichment | PDGFRB | 1.05 |
| 315 | Syndromic intellectual disability | Enrichment | BRD4 | 1.05 |
| 316 | Neuromuscular disease | Enrichment | ACTA1 | 1.02 |
| 317 | Semilobar holoprosencephaly | Enrichment | FGFR1 | 1.02 |
| 318 | Normosmic congenital hypogonadotropic hypogonadism | Enrichment | FGFR1 | 1.02 |
| 319 | Arteriovenous malformations of the brain | Enrichment | IL6 | 1.00 |
| 320 | Behcet syndrome | Enrichment | TLR4 | 1.00 |
| 321 | Congenital myopathy | Enrichment | ACTA1 | 1.00 |
| 322 | Williams-beuren syndrome | Enrichment | ELN | 0.98 |
| 323 | Ovarian cancer | Enrichment | AKT1, TP53 | 0.97 |
| 324 | Endometrial cancer | Enrichment | FGFR2 | 0.96 |
| 325 | Centronuclear myopathy | Enrichment | ACTA1 | 0.96 |
| 326 | Hepatocellular carcinoma | Enrichment | TP53 | 0.94 |
| 327 | Myocardial infarction | Enrichment | F13A1 | 0.94 |
| 328 | Tooth agenesis | Enrichment | FGFR1 | 0.94 |
| 329 | Multisystem inflammatory syndrome in children | Enrichment | IFNB1 | 0.94 |
| 330 | Skin disease | Enrichment | FLG | 0.94 |
| 331 | Diamond-blackfan anemia 1 | Enrichment | TP53 | 0.92 |
| 332 | Kallmann syndrome | Enrichment | FGFR1 | 0.92 |
| 333 | Scoliosis | Enrichment | FBN1 | 0.90 |
| 334 | Pancreatic cancer | Enrichment | TP53 | 0.89 |
| 335 | Hydrops fetalis, nonimmune | Enrichment | ACTA1 | 0.87 |
| 336 | Prostate cancer | Enrichment | TP53 | 0.83 |
| 337 | Differentiated thyroid carcinoma | Enrichment | FOXE1 | 0.83 |
| 338 | Non-immune hydrops fetalis | Enrichment | ACTA1 | 0.80 |
| 339 | Cystic fibrosis | Enrichment | TGFB1 | 0.79 |
| 340 | Severe combined immunodeficiency | Enrichment | CD3E | 0.78 |
| 341 | Diamond-blackfan anemia | Enrichment | TP53 | 0.74 |
| 342 | Fetal akinesia deformation sequence 1 | Enrichment | ACTA1 | 0.73 |
| 343 | Systemic lupus erythematosus | Enrichment | TNF | 0.71 |
| 344 | Cerebral palsy | Enrichment | PDGFRB | 0.71 |
| 345 | Leukemia, acute myeloid | Enrichment | TP53 | 0.70 |
| 346 | Type 2 diabetes mellitus | Enrichment | IL6 | 0.68 |
| 347 | Distal arthrogryposis | Enrichment | ACTA1 | 0.68 |
| 348 | Sensorineural hearing loss | Enrichment | HGF | 0.63 |
| 349 | Rare autosomal dominant non-syndromic sensorineural deafness type dfna | Enrichment | TNC | 0.60 |
| 350 | Hereditary breast ovarian cancer syndrome | Enrichment | TP53 | 0.58 |
| 351 | Rare autosomal recessive non-syndromic sensorineural deafness type dfnb | Enrichment | HGF | 0.41 |
| 352 | Congenital nervous system abnormality | Enrichment | FGFR3 | 0.35 |
| 353 | Nervous system disease | Enrichment | FGFR3 | 0.35 |
| 354 | Microcephaly | Enrichment | FLG | 0.30 |
| 355 | Inherited cancer-predisposing syndrome | Enrichment | TP53 | 0.28 |