| 1 | Loeys-dietz syndrome | Enrichment | SMAD2, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2 | 9.64 |
| 2 | Gallbladder cancer | Enrichment | CTNNB1, KRAS, PIK3CA, SMAD4, TP53 | 8.34 |
| 3 | Noonan syndrome 1 | Enrichment | HRAS, KRAS, MAP2K1, MAP2K2, RAF1, SOS1, SOS2 | 8.21 |
| 4 | Noonan syndrome and noonan-related syndrome | Enrichment | HRAS, KRAS, MAP2K1, MAP2K2, RAF1, SOS1 | 7.93 |
| 5 | Rasopathy | Enrichment | HRAS, KRAS, MAP2K1, MAP2K2, RAF1, SOS1, SOS2 | 7.80 |
| 6 | Familial thoracic aortic aneurysm and aortic dissection | Enrichment | NOTCH1, SMAD2, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1, TGFBR2 | 7.39 |
| 7 | Breast adenocarcinoma | Enrichment | AKT1, KRAS, PIK3CA, TP53 | 6.55 |
| 8 | Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant | Enrichment | CDH2, DSP, JUP, PKP2, TGFB3 | 6.39 |
| 9 | Noonan syndrome 3 | Enrichment | HRAS, KRAS, RAF1, SOS1 | 6.19 |
| 10 | Loeys-dietz syndrome 1 | Enrichment | SMAD2, TGFBR1, TGFBR2 | 5.78 |
| 11 | Keratoacanthoma | Enrichment | NOTCH1, NOTCH2, PIK3CA | 5.78 |
| 12 | Digenic alport syndrome | Enrichment | COL4A3, COL4A4, COL4A5 | 5.78 |
| 13 | Lung non-small cell carcinoma | Enrichment | HRAS, KRAS, MAP2K1, PIK3CA | 5.23 |
| 14 | Cardiofaciocutaneous syndrome 1 | Enrichment | KRAS, MAP2K1, MAP2K2 | 5.19 |
| 15 | Megalencephaly-capillary malformation-polymicrogyria syndrome | Enrichment | AKT3, PIK3CA, PIK3R2 | 5.19 |
| 16 | Cardiofaciocutaneous syndrome | Enrichment | KRAS, MAP2K1, MAP2K2 | 5.19 |
| 17 | Colorectal cancer | Enrichment | AKT1, CDH1, CTNNB1, FZD3, PIK3CA, PIK3R1, SMAD4, TP53 | 5.06 |
| 18 | Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant | Enrichment | DSP, JUP, PKP2, TGFB3 | 5.06 |
| 19 | Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant | Enrichment | DSP, JUP, PKP2, TGFB3 | 5.06 |
| 20 | Alport syndrome 3a, autosomal dominant | Enrichment | COL4A3, COL4A4, COL4A5 | 4.79 |
| 21 | Exudative vitreoretinopathy 1 | Enrichment | CTNNB1, FZD4, LRP5 | 4.79 |
| 22 | Autosomal dominant alport syndrome | Enrichment | COL4A3, COL4A4, COL4A5 | 4.79 |
| 23 | Alport syndrome | Enrichment | COL4A3, COL4A4, COL4A5 | 4.79 |
| 24 | Bladder cancer | Enrichment | CTNNB1, HRAS, KRAS, PIK3CA, TP53 | 4.68 |
| 25 | Kidney disease | Enrichment | COL4A3, COL4A4, COL4A5, PKD1 | 4.63 |
| 26 | Nevus, epidermal | Enrichment | HRAS, KRAS, PIK3CA | 4.26 |
| 27 | Capillary malformation-arteriovenous malformation 1 | Enrichment | KRAS, MAP2K1, PIK3CA | 4.26 |
| 28 | Adams-oliver syndrome | Enrichment | DLL4, NOTCH1, RBPJ | 4.26 |
| 29 | Melanocytic nevus syndrome, congenital | Enrichment | HRAS, RAF1, ZEB2 | 4.06 |
| 30 | Exudative vitreoretinopathy | Enrichment | CTNNB1, FZD4, LRP5 | 4.06 |
| 31 | Arteriovenous malformation | Enrichment | HRAS, MAP2K1, PIK3CA | 3.88 |
| 32 | Adult hepatocellular carcinoma | Enrichment | CTNNB1, PIK3CA, TP53 | 3.88 |
| 33 | Loeys-dietz syndrome 2 | Enrichment | TGFBR1, TGFBR2 | 3.85 |
| 34 | Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis | Enrichment | CLDN1, CLDN16 | 3.85 |
| 35 | Hypomagnesemia 5, renal, with or without ocular involvement | Enrichment | CLDN16, CLDN19 | 3.85 |
| 36 | Renal hypomagnesemia 5 with ocular involvement | Enrichment | CLDN16, CLDN19 | 3.85 |
| 37 | Loeys-dietz syndrome 4 | Enrichment | TGFB2, TGFB3 | 3.85 |
| 38 | X-linked diffuse leiomyomatosis-alport syndrome | Enrichment | COL4A5, COL4A6 | 3.85 |
| 39 | Gastric cancer | Enrichment | CDH1, KRAS, PIK3CA, SMAD4, TP53 | 3.83 |
| 40 | Hereditary breast carcinoma | Enrichment | AKT1, CDH1, KRAS, PIK3CA, TP53 | 3.78 |
| 41 | Marfan syndrome | Enrichment | TGFB2, TGFBR1, TGFBR2 | 3.73 |
| 42 | Myopathy, x-linked, with excessive autophagy | Enrichment | HRAS, MAP2K1, PIK3CA | 3.73 |
| 43 | Breast cancer | Enrichment | AKT1, CDH1, KRAS, PIK3CA, SHC1, TP53 | 3.58 |
| 44 | Lip and oral cavity carcinoma | Enrichment | HRAS, PIK3CA, TP53 | 3.48 |
| 45 | Hematuria, benign familial, 1 | Enrichment | COL4A3, COL4A4 | 3.38 |
| 46 | Weaver syndrome | Enrichment | EZH2, SUZ12 | 3.38 |
| 47 | Osteoporosis, juvenile | Enrichment | WNT1, WNT3A | 3.38 |
| 48 | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | Enrichment | PIK3CA, PIK3R1 | 3.38 |
| 49 | Epidermolysis bullosa, lethal acantholytic | Enrichment | DSP, JUP | 3.38 |
| 50 | Immunodeficiency 14a with lymphoproliferation, autosomal dominant | Enrichment | PIK3CD, PIK3R1 | 3.38 |
| 51 | Immunodeficiency 14 | Enrichment | PIK3CD, PIK3R1 | 3.38 |
| 52 | Aortic valve disease 1 | Enrichment | DSP, NOTCH1, SOS1 | 3.37 |
| 53 | Chronic kidney disease | Enrichment | COL4A4, COL4A5, WNT9B | 3.37 |
| 54 | Non-immune hydrops fetalis | Enrichment | FOXC2, FZD6, HRAS, KRAS | 3.33 |
| 55 | Lynch syndrome | Enrichment | KRAS, PIK3CA, TGFBR2 | 3.17 |
| 56 | Arrhythmogenic right ventricular cardiomyopathy | Enrichment | DSP, JUP, PKP2 | 3.09 |
| 57 | Hypertension | Enrichment | COL4A4, COL4A5, PKD1 | 3.09 |
| 58 | Brain small vessel disease 1 with or without ocular anomalies | Enrichment | COL4A1, COL4A2 | 3.08 |
| 59 | Schimmelpenning-feuerstein-mims syndrome | Enrichment | HRAS, KRAS | 3.08 |
| 60 | Diffuse gastric and lobular breast cancer syndrome | Enrichment | CDH1, KRAS | 3.08 |
| 61 | Alport syndrome 2, autosomal recessive | Enrichment | COL4A3, COL4A4 | 3.08 |
| 62 | Robinow syndrome, autosomal dominant 1 | Enrichment | FZD2, WNT5A | 3.08 |
| 63 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | Enrichment | AKT3, PIK3R2 | 3.08 |
| 64 | Lung sarcomatoid carcinoma | Enrichment | KRAS, TP53 | 3.08 |
| 65 | Retinopathy of prematurity | Enrichment | FZD4, LRP5 | 3.08 |
| 66 | Cerebrovascular disease | Enrichment | NOTCH3, PIK3CA | 3.08 |
| 67 | Aortic aneurysm | Enrichment | SMAD3, TGFBR1 | 3.08 |
| 68 | Autosomal dominant robinow syndrome | Enrichment | FZD2, WNT5A | 3.08 |
| 69 | Autosomal recessive alport syndrome | Enrichment | COL4A3, COL4A4 | 3.08 |
| 70 | Polycystic liver disease | Enrichment | CTNNB1, LRP5, LRP6 | 3.01 |
| 71 | Autosomal dominant polycystic liver disease | Enrichment | CTNNB1, LRP5, LRP6 | 3.01 |
| 72 | Ovarian cancer | Enrichment | AKT1, CDH1, CTNNB1, KRAS, PIK3CA, TP53 | 2.89 |
| 73 | Arrhythmogenic right ventricular dysplasia, familial, 1 | Enrichment | PKP2, TGFB3 | 2.86 |
| 74 | Robinow syndrome, autosomal recessive 1 | Enrichment | FZD2, WNT5A | 2.86 |
| 75 | Arrhythmogenic right ventricular dysplasia 1 | Enrichment | PKP2, TGFB3 | 2.86 |
| 76 | Hemimegalencephaly | Enrichment | AKT3, PIK3CA | 2.86 |
| 77 | Familial porencephaly | Enrichment | COL4A1, COL4A2 | 2.86 |
| 78 | Ehlers-danlos syndrome | Enrichment | SMAD3, TGFB2, TGFBR2 | 2.86 |
| 79 | Nephrotic syndrome | Enrichment | COL4A3, COL4A4, COL4A5, FN1 | 2.78 |
| 80 | Hepatoblastoma | Enrichment | CTNNB1, JAG1, TP53 | 2.73 |
| 81 | Renal dysplasia, cystic | Enrichment | PKD1, WNT9B | 2.69 |
| 82 | Hemorrhage, intracerebral | Enrichment | COL4A1, COL4A2 | 2.69 |
| 83 | Autosomal recessive robinow syndrome | Enrichment | FZD2, WNT5A | 2.69 |
| 84 | Adrenocortical carcinoma | Enrichment | CTNNB1, TP53 | 2.69 |
| 85 | Lung squamous cell carcinoma | Enrichment | KRAS, PIK3CA | 2.69 |
| 86 | Inherited arrhythmogenic cardiomyopathy | Enrichment | DSP, PKP2 | 2.69 |
| 87 | Multicystic kidney dysplasia | Enrichment | FZD3, PKD1 | 2.69 |
| 88 | Multicystic dysplastic kidney | Enrichment | FZD3, PKD1 | 2.69 |
| 89 | Hepatocellular carcinoma | Enrichment | CTNNB1, PIK3CA, TP53 | 2.67 |
| 90 | Tooth agenesis | Enrichment | LRP6, WNT10A, WNT10B | 2.67 |
| 91 | Esophageal cancer | Enrichment | TGFBR2, TP53 | 2.55 |
| 92 | Pilomyxoid astrocytoma | Enrichment | KRAS, RAF1 | 2.55 |
| 93 | Megacolon | Enrichment | AKT3, ZEB2 | 2.55 |
| 94 | Pancreatic cancer | Enrichment | KRAS, SMAD4, TP53 | 2.51 |
| 95 | Hydrops fetalis, nonimmune | Enrichment | FOXC2, FZD6, HRAS | 2.46 |
| 96 | Arrhythmogenic right ventricular dysplasia, familial, 9 | Enrichment | DSP, PKP2 | 2.32 |
| 97 | Cowden syndrome | Enrichment | AKT1, PIK3CA | 2.32 |
| 98 | Familial isolated arrhythmogenic right ventricular dysplasia | Enrichment | DSP, PKP2 | 2.32 |
| 99 | Prostate cancer | Enrichment | CDH1, PIK3CA, TP53 | 2.32 |
| 100 | Nephrocalcinosis | Enrichment | CLDN16, CLDN19 | 2.23 |
| 101 | Nephrolithiasis | Enrichment | CLDN16, CLDN19 | 2.23 |
| 102 | Autosomal non-syndromic agammaglobulinemia | Enrichment | PIK3CD, PIK3R1 | 2.23 |
| 103 | Connective tissue disease | Enrichment | NOTCH1, SMAD3, TGFBR2 | 2.20 |
| 104 | Left ventricular noncompaction | Enrichment | DSP, PKP2, RAF1 | 2.09 |
| 105 | Meningioma | Enrichment | AKT1, PIK3CA | 2.07 |
| 106 | Osteogenesis imperfecta, type iv | Enrichment | SPARC, WNT1 | 2.00 |
| 107 | Cerebral palsy | Enrichment | COL4A1, COL4A2, PALS1 | 1.96 |
| 108 | Osteoporosis | Enrichment | LRP5, WNT1 | 1.94 |
| 109 | Aortic aneurysm, familial thoracic 1 | Enrichment | NOTCH1, SMAD3 | 1.94 |
| 110 | Lung cancer susceptibility 3 | Enrichment | KRAS, TP53 | 1.94 |
| 111 | Macrodactyly | Enrichment | PIK3CA | 1.93 |
| 112 | Proteus syndrome | Enrichment | AKT1 | 1.93 |
| 113 | Endosteal hyperostosis, autosomal dominant | Enrichment | LRP5 | 1.93 |
| 114 | Nail disorder, nonsyndromic congenital, 1 | Enrichment | FZD6 | 1.93 |
| 115 | Barber-say syndrome | Enrichment | TWIST2 | 1.93 |
| 116 | Mullerian aplasia and hyperandrogenism | Enrichment | WNT4 | 1.93 |
| 117 | Hypomagnesemia 3, renal | Enrichment | CLDN16 | 1.93 |
| 118 | Pseudo-torch syndrome 1 | Enrichment | OCLN | 1.93 |
| 119 | Hypoinsulinemic hypoglycemia with hemihypertrophy | Enrichment | AKT2 | 1.93 |
| 120 | Oculoectodermal syndrome | Enrichment | KRAS | 1.93 |
| 121 | Alport syndrome 1, x-linked | Enrichment | COL4A5 | 1.93 |
| 122 | Bone mineral density quantitative trait locus 1 | Enrichment | LRP5 | 1.93 |
| 123 | Exudative vitreoretinopathy 4 | Enrichment | LRP5 | 1.93 |
| 124 | Ectodermal dysplasia/skin fragility syndrome | Enrichment | PKP1 | 1.93 |
| 125 | Arrhythmogenic right ventricular dysplasia, familial, 12 | Enrichment | JUP | 1.93 |
| 126 | Noonan syndrome 5 | Enrichment | RAF1 | 1.93 |
| 127 | Noonan syndrome 4 | Enrichment | SOS1 | 1.93 |
| 128 | 46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs | Enrichment | WNT4 | 1.93 |
| 129 | Intellectual developmental disorder, autosomal recessive 7 | Enrichment | TUSC3 | 1.93 |
| 130 | Melorheostosis, isolated | Enrichment | MAP2K1 | 1.93 |
| 131 | Megalencephaly, autosomal dominant | Enrichment | PIK3CA | 1.93 |
| 132 | Omodysplasia 2 | Enrichment | FZD2 | 1.93 |
| 133 | Focal facial dermal dysplasia 2, brauer-setleis type | Enrichment | TWIST2 | 1.93 |
| 134 | Hajdu-cheney syndrome | Enrichment | NOTCH2 | 1.93 |
| 135 | Alagille syndrome 2 | Enrichment | NOTCH2 | 1.93 |
| 136 | Cardiomyopathy, dilated, 1nn | Enrichment | RAF1 | 1.93 |
| 137 | Lateral meningocele syndrome | Enrichment | NOTCH3 | 1.93 |
| 138 | Multiple self-healing squamous epithelioma | Enrichment | TGFBR1 | 1.93 |
| 139 | Cowden syndrome 5 | Enrichment | PIK3CA | 1.93 |
| 140 | Cardiofaciocutaneous syndrome 3 | Enrichment | MAP2K1 | 1.93 |
| 141 | Split-hand/foot malformation 6 | Enrichment | WNT10B | 1.93 |
| 142 | Focal facial dermal dysplasia 3, setleis type | Enrichment | TWIST2 | 1.93 |
| 143 | Tooth agenesis, selective, 7 | Enrichment | LRP6 | 1.93 |
| 144 | Noonan syndrome 9 | Enrichment | SOS2 | 1.93 |
| 145 | Tooth agenesis, selective, 8 | Enrichment | WNT10B | 1.93 |
| 146 | Ablepharon-macrostomia syndrome | Enrichment | TWIST2 | 1.93 |
| 147 | Exudative vitreoretinopathy 8 | Enrichment | LRP6 | 1.93 |
| 148 | Naxos disease | Enrichment | JUP | 1.93 |
| 149 | Cerebral cavernous malformations 4 | Enrichment | PIK3CA | 1.93 |
| 150 | Charcot-marie-tooth disease, axonal, type 2hh | Enrichment | JAG1 | 1.93 |
| 151 | Noonan syndrome 13 | Enrichment | MAPK1 | 1.93 |
| 152 | Helix syndrome | Enrichment | CLDN10 | 1.93 |
| 153 | Adams-oliver syndrome 6 | Enrichment | DLL4 | 1.93 |
| 154 | Deafness, x-linked 6 | Enrichment | COL4A6 | 1.93 |
| 155 | Hyperemesis gravidarum | Enrichment | GDF15 | 1.93 |
| 156 | Short syndrome | Enrichment | PIK3R1 | 1.93 |
| 157 | Intellectual developmental disorder with macrocephaly, seizures, and speech delay | Enrichment | PAK1 | 1.93 |
| 158 | Bone marrow failure syndrome 5 | Enrichment | TP53 | 1.93 |
| 159 | Deafness, autosomal recessive 116 | Enrichment | CLDN9 | 1.93 |
| 160 | Azoospermia, obstructive, with nephrolithiasis | Enrichment | CLDN2 | 1.93 |
| 161 | Diarrhea 9 | Enrichment | WNT2B | 1.93 |
| 162 | Papilloma of choroid plexus | Enrichment | TP53 | 1.93 |
| 163 | Basal cell carcinoma 7 | Enrichment | TP53 | 1.93 |
| 164 | Porencephaly | Enrichment | COL4A1 | 1.93 |
| 165 | Imagawa-matsumoto syndrome | Enrichment | SUZ12 | 1.93 |
| 166 | Agenesis of corpus callosum, cardiac, ocular, and genital syndrome | Enrichment | CDH2 | 1.93 |
| 167 | Anaplastic thyroid carcinoma | Enrichment | TP53 | 1.93 |
| 168 | Osteoporosis-pseudoglioma syndrome | Enrichment | LRP5 | 1.93 |
| 169 | Coronary artery disease, autosomal dominant 2 | Enrichment | LRP6 | 1.93 |
| 170 | Bone mineral density quantitative trait locus 16 | Enrichment | WNT1 | 1.93 |
| 171 | Cardiofaciocutaneous syndrome 2 | Enrichment | KRAS | 1.93 |
| 172 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | Enrichment | AKT3 | 1.93 |
| 173 | Camurati-engelmann disease 2 | Enrichment | TGFB2 | 1.93 |
| 174 | Hemifacial myohyperplasia | Enrichment | PIK3CA | 1.93 |
| 175 | Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth | Enrichment | PIK3CA | 1.93 |
| 176 | Polycystic liver disease 4 with or without kidney cysts | Enrichment | LRP5 | 1.93 |
| 177 | Santos syndrome | Enrichment | WNT7A | 1.93 |
| 178 | Melorheostosis | Enrichment | MAP2K1 | 1.93 |
| 179 | Colorectal cancer, hereditary nonpolyposis, type 6 | Enrichment | TGFBR2 | 1.93 |
| 180 | Arrhythmogenic right ventricular dysplasia, familial, 14 | Enrichment | CDH2 | 1.93 |
| 181 | Leopard syndrome 2 | Enrichment | RAF1 | 1.93 |
| 182 | Immunodeficiency 36 with lymphoproliferation | Enrichment | PIK3R1 | 1.93 |
| 183 | Cardiofaciocutaneous syndrome 4 | Enrichment | MAP2K2 | 1.93 |
| 184 | Cowden syndrome 6 | Enrichment | AKT1 | 1.93 |
| 185 | Myofibromatosis, infantile, 2 | Enrichment | NOTCH3 | 1.93 |
| 186 | Immunodeficiency 14b, autosomal recessive | Enrichment | PIK3CD | 1.93 |
| 187 | Loeys-dietz syndrome 6 | Enrichment | SMAD2 | 1.93 |
| 188 | Agammaglobulinemia 7, autosomal recessive | Enrichment | PIK3R1 | 1.93 |
| 189 | Microphthalmia/coloboma 11 | Enrichment | FZD5 | 1.93 |
| 190 | Ductal carcinoma in situ | Enrichment | TP53 | 1.93 |
| 191 | Loeys-dietz syndrome 5 | Enrichment | TGFB3 | 1.93 |
| 192 | Cohen-gibson syndrome | Enrichment | EED | 1.93 |
| 193 | Leukodystrophy, hypomyelinating, 22 | Enrichment | CLDN11 | 1.93 |
| 194 | Muscular dystrophy, limb-girdle, autosomal recessive 27 | Enrichment | JAG2 | 1.93 |
| 195 | Mitochondrial complex i deficiency, nuclear type 21 | Enrichment | NUBPL | 1.93 |
| 196 | Deafness, congenital heart defects, and posterior embryotoxon | Enrichment | JAG1 | 1.93 |
| 197 | Primary hypomagnesemia | Enrichment | CLDN16 | 1.93 |
| 198 | Trigonitis | Enrichment | RAF1 | 1.93 |
| 199 | Segmental progressive overgrowth syndrome with fibroadipose hyperplasia | Enrichment | PIK3CA | 1.93 |
| 200 | Thyroid gland undifferentiated carcinoma | Enrichment | TP53 | 1.93 |
| 201 | Congenital heart defects, multiple types, 8, with or without heterotaxy | Enrichment | SMAD2 | 1.93 |
| 202 | Small-cell carcinoma of the ovary of hypercalcemic type | Enrichment | TP53 | 1.93 |
| 203 | Attention deficit-hyperactivity disorder 8 | Enrichment | CDH2 | 1.93 |
| 204 | Adenoid ameloblastoma | Enrichment | CTNNB1 | 1.93 |
| 205 | Heritable thoracic aortic disease | Enrichment | SMAD4 | 1.93 |
| 206 | Col4a1-related disorders | Enrichment | COL4A1 | 1.93 |
| 207 | Autosomal recessive cerebral atrophy | Enrichment | TMPRSS4 | 1.93 |
| 208 | Skin fragility-woolly hair-palmoplantar keratoderma syndrome | Enrichment | DSP | 1.93 |
| 209 | Hypospadias | Enrichment | PIK3CA | 1.93 |
| 210 | Lrp5-related primary osteoporosis | Enrichment | LRP5 | 1.93 |
| 211 | Capillary hemangioma | Enrichment | AKT3 | 1.93 |
| 212 | Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtype | Enrichment | TP53 | 1.93 |
| 213 | Transient cerebral ischemia | Enrichment | NOTCH3 | 1.93 |
| 214 | Breast lobular carcinoma | Enrichment | CDH1 | 1.93 |
| 215 | Congenital pulmonary airway malformation | Enrichment | KRAS | 1.93 |
| 216 | Choroid plexus cancer | Enrichment | TP53 | 1.93 |
| 217 | Rare venous malformation | Enrichment | PIK3CA | 1.93 |
| 218 | Cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 1 | Enrichment | NOTCH3 | 1.93 |
| 219 | Col4a1 or col4a2-related cerebral small vessel disease | Enrichment | COL4A1 | 1.93 |
| 220 | Diaphragmatic eventration | Enrichment | PIK3CA | 1.93 |
| 221 | Renovascular hypertension | Enrichment | PKD1 | 1.93 |
| 222 | X-linked alport syndrome | Enrichment | COL4A5 | 1.93 |
| 223 | Pik3ca-related overgrowth spectrum | Enrichment | PIK3CA | 1.93 |
| 224 | Pleomorphic xanthoastrocytoma | Enrichment | TP53 | 1.93 |
| 225 | Rare combined vascular malformation | Enrichment | PIK3CA | 1.93 |
| 226 | Cavernous lymphangioma | Enrichment | PIK3CA | 1.93 |
| 227 | Pik3ca-related overgrowth syndrome | Enrichment | PIK3CA | 1.93 |
| 228 | Osteosclerosis-developmental delay-craniosynostosis syndrome | Enrichment | LRP5 | 1.93 |
| 229 | Phakomatosis pigmentokeratotica | Enrichment | HRAS | 1.93 |
| 230 | Hemihyperplasia-multiple lipomatosis syndrome | Enrichment | PIK3CA | 1.93 |
| 231 | Eccrine angiomatous hamartoma | Enrichment | PIK3CA | 1.93 |
| 232 | Macrodactyly of toe | Enrichment | PIK3CA | 1.93 |
| 233 | Microcystic stromal tumor | Enrichment | CTNNB1 | 1.93 |
| 234 | Akt2-related familial partial lipodystrophy | Enrichment | AKT2 | 1.93 |
| 235 | Corpus callosum, agenesis of | Enrichment | CDH2, COL4A1 | 1.88 |
| 236 | Isolated corpus callosum agenesis | Enrichment | CDH2, COL4A1 | 1.88 |
| 237 | Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome | Enrichment | CDH2, COL4A1 | 1.88 |
| 238 | Rhabdomyosarcoma | Enrichment | HRAS, TP53 | 1.82 |
| 239 | Heart, malformation of | Enrichment | JAG1, MAPK1 | 1.72 |
| 240 | Polycystic kidney disease | Enrichment | COL4A4, PKD1 | 1.72 |
| 241 | Inherited cancer-predisposing syndrome | Enrichment | CDH1, EZH2, PKD1, SMAD4, TP53 | 1.69 |
| 242 | Arteriovenous malformations of the brain | Enrichment | CDH2, KRAS | 1.68 |
| 243 | Focal segmental glomerulosclerosis | Enrichment | COL4A4, COL4A5 | 1.64 |
| 244 | Blepharocheilodontic syndrome 1 | Enrichment | CDH1 | 1.63 |
| 245 | Fibromatosis, gingival, 1 | Enrichment | SOS1 | 1.63 |
| 246 | Myhre syndrome | Enrichment | SMAD4 | 1.63 |
| 247 | Tooth agenesis, selective, 4 | Enrichment | WNT10A | 1.63 |
| 248 | Adrenocortical carcinoma, hereditary | Enrichment | TP53 | 1.63 |
| 249 | Camurati-engelmann disease 1 | Enrichment | TGFB1 | 1.63 |
| 250 | Spondyloepimetaphyseal dysplasia, strudwick type | Enrichment | FN1 | 1.63 |
| 251 | Costello syndrome | Enrichment | HRAS | 1.63 |
| 252 | Van buchem disease | Enrichment | LRP5 | 1.63 |
| 253 | Spondylometaphyseal dysplasia, corner fracture type | Enrichment | FN1 | 1.63 |
| 254 | Schopf-schulz-passarge syndrome | Enrichment | WNT10A | 1.63 |
| 255 | Robinow-sorauf syndrome | Enrichment | TWIST1 | 1.63 |
| 256 | Mowat-wilson syndrome | Enrichment | ZEB2 | 1.63 |
| 257 | Ulna and fibula, absence of, with severe limb deficiency | Enrichment | WNT7A | 1.63 |
| 258 | Bladder exstrophy and epispadias complex | Enrichment | WNT3 | 1.63 |
| 259 | Osteopathia striata with cranial sclerosis | Enrichment | CTNNB1 | 1.63 |
| 260 | Arrhythmogenic right ventricular dysplasia, familial, 8 | Enrichment | DSP | 1.63 |
| 261 | Cervical cancer | Enrichment | TP53 | 1.63 |
| 262 | Odontoonychodermal dysplasia | Enrichment | WNT10A | 1.63 |
| 263 | Pulmonic stenosis | Enrichment | SOS1 | 1.63 |
| 264 | Tetraamelia syndrome 1 | Enrichment | WNT3 | 1.63 |
| 265 | Piebald trait | Enrichment | SNAI2 | 1.63 |
| 266 | Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | Enrichment | SMAD4 | 1.63 |
| 267 | Microvascular complications of diabetes 5 | Enrichment | TGFBR2 | 1.63 |
| 268 | Lymphedema-distichiasis syndrome | Enrichment | FOXC2 | 1.63 |
| 269 | Keratosis, seborrheic | Enrichment | PIK3CA | 1.63 |
| 270 | Osteogenesis imperfecta, type xv | Enrichment | WNT1 | 1.63 |
| 271 | Encephalocraniocutaneous lipomatosis | Enrichment | KRAS | 1.63 |
| 272 | Ras-associated autoimmune leukoproliferative disorder | Enrichment | KRAS | 1.63 |
| 273 | Roifman-chitayat syndrome | Enrichment | PIK3CD | 1.63 |
| 274 | Adams-oliver syndrome 5 | Enrichment | NOTCH1 | 1.63 |
| 275 | Specific language impairment 5 | Enrichment | COL4A4 | 1.63 |
| 276 | Robinow syndrome, autosomal dominant 3 | Enrichment | FZD2 | 1.63 |
| 277 | Noonan syndrome 8 | Enrichment | PIK3CA | 1.63 |
| 278 | Fibular aplasia or hypoplasia, femoral bowing, and poly-, syn-, and oligodactyly | Enrichment | WNT7A | 1.63 |
| 279 | Lymphoma, hodgkin, classic | Enrichment | TP53 | 1.63 |
| 280 | Keratosis palmoplantaris striata ii | Enrichment | DSP | 1.63 |
| 281 | Loeys-dietz syndrome 3 | Enrichment | SMAD3 | 1.63 |
| 282 | Adams-oliver syndrome 3 | Enrichment | RBPJ | 1.63 |
| 283 | Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 | Enrichment | COL4A2 | 1.63 |
| 284 | Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis | Enrichment | DSP | 1.63 |
| 285 | Sweeney-cox syndrome | Enrichment | TWIST1 | 1.63 |
| 286 | Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures | Enrichment | DLL1 | 1.63 |
| 287 | Inflammatory bowel disease, immunodeficiency, and encephalopathy | Enrichment | TGFB1 | 1.63 |
| 288 | Infantile myofibromatosis | Enrichment | NOTCH3 | 1.63 |
| 289 | Childhood hepatocellular carcinoma | Enrichment | CTNNB1 | 1.63 |
| 290 | Senior-loken syndrome 7 | Enrichment | AKT3 | 1.63 |
| 291 | Progressive familial heart block | Enrichment | DSP | 1.63 |
| 292 | Rosette-forming glioneuronal tumor | Enrichment | PIK3CA | 1.63 |
| 293 | Central precocious puberty | Enrichment | DLK1 | 1.63 |
| 294 | Lipodystrophy, familial partial, type 1 | Enrichment | NOTCH3 | 1.63 |
| 295 | Osteogenesis imperfecta, type xvii | Enrichment | SPARC | 1.63 |
| 296 | Depressive disorder | Enrichment | NOTCH3 | 1.63 |
| 297 | Camurati-engelmann disease | Enrichment | TGFB1 | 1.63 |
| 298 | Congenital fibrosarcoma | Enrichment | TP53 | 1.63 |
| 299 | Glomerulonephritis | Enrichment | COL4A4 | 1.63 |
| 300 | Metaphyseal anadysplasia 2 | Enrichment | MMP9 | 1.63 |
| 301 | Li-fraumeni syndrome 1 | Enrichment | TP53 | 1.63 |
| 302 | Cardiomyopathy, dilated, with woolly hair and keratoderma | Enrichment | DSP | 1.63 |
| 303 | Sarcoma | Enrichment | TP53 | 1.63 |
| 304 | Deafness, autosomal recessive 29 | Enrichment | CLDN14 | 1.63 |
| 305 | Intellectual developmental disorder, autosomal recessive 24 | Enrichment | TUSC3 | 1.63 |
| 306 | Cervix carcinoma | Enrichment | TP53 | 1.63 |
| 307 | Immune system disease | Enrichment | PIK3CD | 1.63 |
| 308 | Hodgkin's lymphoma | Enrichment | TP53 | 1.63 |
| 309 | Bardet-biedl syndrome 16 | Enrichment | AKT3 | 1.63 |
| 310 | Polycystic kidney disease 3 | Enrichment | PKD1 | 1.63 |
| 311 | Juvenile nasopharyngeal angiofibroma | Enrichment | CTNNB1 | 1.63 |
| 312 | Metaphyseal anadysplasia | Enrichment | MMP9 | 1.63 |
| 313 | Crohn's disease | Enrichment | FMNL2 | 1.63 |
| 314 | Teratoma | Enrichment | CTNNB1 | 1.63 |
| 315 | Osteosclerosis | Enrichment | LRP5 | 1.63 |
| 316 | Non-syndromic sagittal craniosynostosis | Enrichment | TWIST1 | 1.63 |
| 317 | Bladder exstrophy-epispadias-cloacal exstrophy complex | Enrichment | WNT3 | 1.63 |
| 318 | Pleomorphic rhabdomyosarcoma | Enrichment | TP53 | 1.63 |
| 319 | Tafro syndrome | Enrichment | MAP2K2 | 1.63 |
| 320 | Malignant peritoneal mesothelioma | Enrichment | LATS2 | 1.63 |
| 321 | Wooly hair nevus | Enrichment | HRAS | 1.63 |
| 322 | Endometrial cancer | Enrichment | CDH1, PIK3CA | 1.60 |
| 323 | Myeloma, multiple | Enrichment | KRAS, PIK3R2, TP53 | 1.54 |
| 324 | Brittle bone disorder | Enrichment | LRP5, WNT1 | 1.52 |
| 325 | Desmoid disease, hereditary | Enrichment | CTNNB1 | 1.45 |
| 326 | Craniosynostosis 1 | Enrichment | TWIST1 | 1.45 |
| 327 | Retinal arteries, tortuosity of | Enrichment | COL4A1 | 1.45 |
| 328 | Alagille syndrome 1 | Enrichment | JAG1 | 1.45 |
| 329 | Juvenile polyposis syndrome | Enrichment | SMAD4 | 1.45 |
| 330 | Pompe disease, infantile-onset | Enrichment | PIK3CA | 1.45 |
| 331 | Mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies | Enrichment | WNT4 | 1.45 |
| 332 | Microphthalmia, syndromic 9 | Enrichment | WNT7B | 1.45 |
| 333 | Polycystic kidney disease, infantile severe, with tuberous sclerosis | Enrichment | PKD1 | 1.45 |
| 334 | Tooth agenesis, selective, 2 | Enrichment | WNT10A | 1.45 |
| 335 | Osteopetrosis, autosomal dominant 1 | Enrichment | LRP5 | 1.45 |
| 336 | Glomerulopathy with fibronectin deposits 2 | Enrichment | FN1 | 1.45 |
| 337 | Nuchal bleb, familial | Enrichment | SOS1 | 1.45 |
| 338 | Multicentric osteolysis, nodulosis, and arthropathy | Enrichment | MMP2 | 1.45 |
| 339 | Langerhans cell histiocytosis | Enrichment | MAP2K1 | 1.45 |
| 340 | Osteogenic sarcoma | Enrichment | TP53 | 1.45 |
| 341 | Corneal dystrophy, posterior polymorphous, 3 | Enrichment | ZEB1 | 1.45 |
| 342 | Corneal dystrophy, fuchs endothelial, 6 | Enrichment | ZEB1 | 1.45 |
| 343 | Nasopharyngeal carcinoma | Enrichment | TP53 | 1.45 |
| 344 | Neurodevelopmental disorder with spastic diplegia and visual defects | Enrichment | CTNNB1 | 1.45 |
| 345 | Tuberous sclerosis 2 | Enrichment | PKD1 | 1.45 |
| 346 | Brain small vessel disease 2 | Enrichment | COL4A2 | 1.45 |
| 347 | Thrombocytopenia 5 | Enrichment | CLDN16 | 1.45 |
| 348 | Anus, imperforate | Enrichment | CTNNB1 | 1.45 |
| 349 | Microangiopathy and leukoencephalopathy, pontine, autosomal dominant | Enrichment | COL4A1 | 1.45 |
| 350 | Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige | Enrichment | DSP | 1.45 |
| 351 | Exudative vitreoretinopathy 7 | Enrichment | CTNNB1 | 1.45 |
| 352 | Pilarowski-bjornsson syndrome | Enrichment | COL4A3 | 1.45 |
| 353 | Woolly hair-skin fragility syndrome | Enrichment | DSP | 1.45 |
| 354 | Alport syndrome 3b, autosomal recessive | Enrichment | COL4A3 | 1.45 |
| 355 | Large congenital melanocytic nevus | Enrichment | HRAS | 1.45 |
| 356 | Desmoid tumor | Enrichment | CTNNB1 | 1.45 |
| 357 | Keratosis palmoplantaris striata | Enrichment | DSP | 1.45 |
| 358 | Precocious puberty, central, 2 | Enrichment | DLK1 | 1.45 |
| 359 | Nail disease | Enrichment | FZD6 | 1.45 |
| 360 | Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps | Enrichment | COL4A1 | 1.45 |
| 361 | Atypical teratoid rhabdoid tumor | Enrichment | TP53 | 1.45 |
| 362 | Leukodystrophy and acquired microcephaly with or without dystonia | Enrichment | DLL3 | 1.45 |
| 363 | Anaplastic astrocytoma | Enrichment | TP53 | 1.45 |
| 364 | Squamous cell carcinoma | Enrichment | TP53 | 1.45 |
| 365 | Adenocarcinoma | Enrichment | TP53 | 1.45 |
| 366 | Intraocular pressure quantitative trait locus | Enrichment | ZEB1 | 1.45 |
| 367 | Migraine without aura | Enrichment | NOTCH3 | 1.45 |
| 368 | Hematuria, benign familial, 2 | Enrichment | COL4A3 | 1.45 |
| 369 | End stage renal disease | Enrichment | PKD1 | 1.45 |
| 370 | Bone osteosarcoma | Enrichment | TP53 | 1.45 |
| 371 | Spermatocytoma | Enrichment | HRAS | 1.45 |
| 372 | Arachnoid cyst | Enrichment | PALS1 | 1.45 |
| 373 | Tetraamelia syndrome | Enrichment | WNT3 | 1.45 |
| 374 | Enchondromatosis | Enrichment | HIF1A | 1.45 |
| 375 | Tetralogy of fallot | Enrichment | JAG1, NOTCH1 | 1.42 |
| 376 | Auditory neuropathy | Enrichment | CDH2, NOTCH3 | 1.42 |
| 377 | Differentiated thyroid carcinoma | Enrichment | HRAS, KRAS | 1.34 |
| 378 | Ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive | Enrichment | WNT10A | 1.33 |
| 379 | Small cell cancer of the lung | Enrichment | TP53 | 1.33 |
| 380 | Schizencephaly | Enrichment | COL4A1 | 1.33 |
| 381 | Thyroid cancer, nonmedullary, 1 | Enrichment | TP53 | 1.33 |
| 382 | Neurofibromatosis-noonan syndrome | Enrichment | MAP2K2 | 1.33 |
| 383 | Kagami-ogata syndrome | Enrichment | DLK1 | 1.33 |
| 384 | Chromosome 22q11.2 deletion syndrome, distal | Enrichment | MAPK1 | 1.33 |
| 385 | Saethre-chotzen syndrome | Enrichment | TWIST1 | 1.33 |
| 386 | Pilomatrixoma | Enrichment | CTNNB1 | 1.33 |
| 387 | Temple syndrome | Enrichment | DLK1 | 1.33 |
| 388 | Alazami syndrome | Enrichment | CTNNB1 | 1.33 |
| 389 | Orofacial cleft | Enrichment | LRP6 | 1.33 |
| 390 | Chronic myelogenous leukemia, bcr-abl1 positive | Enrichment | KRAS | 1.33 |
| 391 | Ectodermal dysplasia | Enrichment | WNT10A | 1.33 |
| 392 | Tuberous sclerosis | Enrichment | PKD1 | 1.33 |
| 393 | Embryonal rhabdomyosarcoma | Enrichment | TP53 | 1.33 |
| 394 | Craniopharyngioma | Enrichment | CTNNB1 | 1.33 |
| 395 | Noonan syndrome with multiple lentigines | Enrichment | RAF1 | 1.33 |
| 396 | Pilocytic astrocytoma | Enrichment | KRAS | 1.33 |
| 397 | Corneal dystrophy | Enrichment | ZEB1 | 1.33 |
| 398 | Epidermolytic nevus | Enrichment | HRAS | 1.33 |
| 399 | Familial cerebral cavernous malformations | Enrichment | PIK3CA | 1.33 |
| 400 | Eyelid coloboma | Enrichment | FZD5 | 1.33 |
| 401 | Non-syndromic bicoronal craniosynostosis | Enrichment | TWIST1 | 1.33 |
| 402 | Genetic central precocious puberty in male | Enrichment | DLK1 | 1.33 |
| 403 | Vitreoretinopathy | Enrichment | LRP5 | 1.33 |
| 404 | Orofacial clefting syndrome | Enrichment | LRP6 | 1.33 |
| 405 | Middle aortic syndrome | Enrichment | JAG1 | 1.33 |
| 406 | Rare x-linked non-syndromic sensorineural deafness type dfn | Enrichment | COL4A6 | 1.33 |
| 407 | Gingival fibromatosis | Enrichment | SOS1 | 1.33 |
| 408 | Male infertility due to gonadal dysgenesis or sperm disorder | Enrichment | SOS2 | 1.33 |
| 409 | Lens coloboma | Enrichment | FZD5 | 1.33 |
| 410 | Long qt syndrome 1 | Enrichment | DSP, PKP2 | 1.31 |
| 411 | Lung cancer | Enrichment | KRAS, PIK3CA | 1.26 |
| 412 | Ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant | Enrichment | TRAF6 | 1.24 |
| 413 | Capillary malformations, congenital | Enrichment | PIK3CA | 1.24 |
| 414 | Enchondromatosis, multiple, ollier type | Enrichment | HIF1A | 1.24 |
| 415 | Polycystic liver disease 1 with or without kidney cysts | Enrichment | PKD1 | 1.24 |
| 416 | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | Enrichment | NOTCH3 | 1.24 |
| 417 | Polycystic kidney disease 3 with or without polycystic liver disease | Enrichment | PKD1 | 1.24 |
| 418 | Norrie disease | Enrichment | FZD4 | 1.24 |
| 419 | Rhabdomyosarcoma 2 | Enrichment | TP53 | 1.24 |
| 420 | Robinow syndrome, autosomal dominant 2 | Enrichment | FZD2 | 1.24 |
| 421 | Fuchs' endothelial dystrophy | Enrichment | ZEB1 | 1.24 |
| 422 | Lymphoma | Enrichment | TP53 | 1.24 |
| 423 | Cardiac arrest | Enrichment | DSP | 1.24 |
| 424 | Polycystic liver disease 1 | Enrichment | PKD1 | 1.24 |
| 425 | Hemangioma | Enrichment | PKD1 | 1.24 |
| 426 | Persistent hyperplastic primary vitreous | Enrichment | FZD4 | 1.24 |
| 427 | Aplasia cutis congenita | Enrichment | DLL4 | 1.24 |
| 428 | Vascular dementia | Enrichment | NOTCH3 | 1.24 |
| 429 | Acute megakaryocytic leukemia | Enrichment | TP53 | 1.24 |
| 430 | Autosomal recessive hypohidrotic ectodermal dysplasia syndrome | Enrichment | WNT10A | 1.24 |
| 431 | Coloboma of choroid and retina | Enrichment | FZD5 | 1.24 |
| 432 | Endometrial stromal sarcoma | Enrichment | SUZ12 | 1.24 |
| 433 | Mitochondrial oxidative phosphorylation disorder | Enrichment | NUBPL | 1.24 |
| 434 | Generalized juvenile polyposis/juvenile polyposis coli | Enrichment | SMAD4 | 1.24 |
| 435 | Atrial septal defect 1 | Enrichment | TGFB2 | 1.16 |
| 436 | Klippel-trenaunay-weber syndrome | Enrichment | PIK3CA | 1.16 |
| 437 | Li-fraumeni syndrome | Enrichment | TP53 | 1.16 |
| 438 | Coloboma of optic nerve | Enrichment | FZD5 | 1.16 |
| 439 | Corneal dystrophy, posterior polymorphous, 1 | Enrichment | ZEB1 | 1.16 |
| 440 | Cowden syndrome 1 | Enrichment | PIK3CA | 1.16 |
| 441 | Weyers acrofacial dysostosis | Enrichment | CTNNB1 | 1.16 |
| 442 | Hemihyperplasia, isolated | Enrichment | PIK3CA | 1.16 |
| 443 | Anxiety | Enrichment | PALS1 | 1.16 |
| 444 | Anterior segment dysgenesis 5 | Enrichment | COL4A1 | 1.16 |
| 445 | Inflammatory bowel disease 25, autosomal recessive | Enrichment | TGFB1 | 1.16 |
| 446 | Renal hypoplasia | Enrichment | WNT9B | 1.16 |
| 447 | Keratoconus | Enrichment | COL4A1 | 1.16 |
| 448 | Diarrhea | Enrichment | WNT2B | 1.16 |
| 449 | Il10-related early-onset inflammatory bowel disease | Enrichment | TGFB1 | 1.16 |
| 450 | Classic ehlers-danlos syndrome | Enrichment | TGFBR1 | 1.16 |
| 451 | Spondylocostal dysostosis, autosomal recessive | Enrichment | DLL3 | 1.16 |
| 452 | Cleft lip with or without cleft palate | Enrichment | CDH1 | 1.16 |
| 453 | Dilated cardiomyopathy | Enrichment | DSP, JUP, RAF1 | 1.16 |
| 454 | Polycystic kidney disease 1 with or without polycystic liver disease | Enrichment | PKD1 | 1.10 |
| 455 | Thyroid cancer, nonmedullary, 2 | Enrichment | HRAS | 1.10 |
| 456 | Squamous cell carcinoma, head and neck | Enrichment | TP53 | 1.10 |
| 457 | Coats disease | Enrichment | FZD4 | 1.10 |
| 458 | Waardenburg syndrome, type 2e | Enrichment | SNAI2 | 1.10 |
| 459 | Leukemia, chronic myeloid | Enrichment | KRAS | 1.10 |
| 460 | Multiple enchondromatosis, maffucci type | Enrichment | HIF1A | 1.10 |
| 461 | Polycystic kidney disease 1 | Enrichment | PKD1 | 1.10 |
| 462 | Essential thrombocythemia | Enrichment | TP53 | 1.10 |
| 463 | Hereditary hemorrhagic telangiectasia | Enrichment | SMAD4 | 1.10 |
| 464 | Follicular thyroid carcinoma | Enrichment | HRAS | 1.10 |
| 465 | Overgrowth syndrome | Enrichment | PIK3R1 | 1.10 |
| 466 | B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) | Enrichment | TP53 | 1.10 |
| 467 | Leukemia, acute myeloid | Enrichment | KRAS, TP53 | 1.09 |
| 468 | Type 2 diabetes mellitus | Enrichment | AKT2, RBPJ | 1.05 |
| 469 | Glioma susceptibility 1 | Enrichment | TP53 | 1.04 |
| 470 | Renal hypodysplasia/aplasia 1 | Enrichment | WNT9B | 1.04 |
| 471 | Spondylocostal dysostosis 1, autosomal recessive | Enrichment | DLL3 | 1.04 |
| 472 | Polycystic kidney disease 4 with or without polycystic liver disease | Enrichment | PKD1 | 1.04 |
| 473 | Lymphoma, non-hodgkin, familial | Enrichment | TP53 | 1.04 |
| 474 | Perrault syndrome | Enrichment | CLDN14 | 1.04 |
| 475 | Myocarditis | Enrichment | DSP | 1.04 |
| 476 | Hypoplastic left heart syndrome | Enrichment | NOTCH1 | 1.04 |
| 477 | Isolated split hand-split foot malformation | Enrichment | WNT10B | 1.04 |
| 478 | Inflammatory bowel disease 1 | Enrichment | FMNL2 | 0.99 |
| 479 | Cystic kidney disease | Enrichment | PKD1 | 0.99 |
| 480 | Primary hyperaldosteronism | Enrichment | TP53 | 0.99 |
| 481 | Familial thoracic aortic aneurysm and dissection | Enrichment | SMAD3 | 0.99 |
| 482 | Renal agenesis, bilateral | Enrichment | WNT9B | 0.99 |
| 483 | Cat eye syndrome | Enrichment | FZD5 | 0.95 |
| 484 | Leukemia, chronic lymphocytic | Enrichment | TP53 | 0.95 |
| 485 | Peters-plus syndrome | Enrichment | COL4A1 | 0.95 |
| 486 | Stroke, ischemic | Enrichment | NOTCH3 | 0.95 |
| 487 | Polymicrogyria | Enrichment | AKT3 | 0.95 |
| 488 | Familial colorectal cancer | Enrichment | TP53 | 0.95 |
| 489 | Migraine with or without aura 1 | Enrichment | NOTCH3 | 0.91 |
| 490 | Pectus excavatum | Enrichment | TGFBR1 | 0.91 |
| 491 | Myelodysplastic syndrome | Enrichment | TP53 | 0.91 |
| 492 | Specific learning disability | Enrichment | MAPK1 | 0.91 |
| 493 | Familial isolated dilated cardiomyopathy | Enrichment | DSP, RAF1 | 0.88 |
| 494 | Congenital nervous system abnormality | Enrichment | CTNNB1, TUSC3, ZEB2 | 0.88 |
| 495 | Nervous system disease | Enrichment | CTNNB1, TUSC3, ZEB2 | 0.88 |
| 496 | Cardiac conduction defect | Enrichment | DSP | 0.87 |
| 497 | Juvenile myelomonocytic leukemia | Enrichment | KRAS | 0.87 |
| 498 | Hereditary breast ovarian cancer syndrome | Enrichment | KRAS, TP53 | 0.86 |
| 499 | Microphthalmia/coloboma 12 | Enrichment | FZD5 | 0.84 |
| 500 | Nk-cell enteropathy | Enrichment | PIK3CB | 0.84 |
| 501 | Medulloblastoma | Enrichment | CTNNB1 | 0.81 |
| 502 | Walker-warburg syndrome | Enrichment | COL4A1 | 0.81 |
| 503 | Cleft lip/palate | Enrichment | CDH1 | 0.81 |
| 504 | 46,xy partial gonadal dysgenesis | Enrichment | SOS1 | 0.81 |
| 505 | Isolated macular dystrophy | Enrichment | COL4A5 | 0.81 |
| 506 | Coloboma of macula | Enrichment | FZD5 | 0.79 |
| 507 | Osteogenesis imperfecta, type iii | Enrichment | WNT1 | 0.79 |
| 508 | Hydrocephalus | Enrichment | FZD3 | 0.79 |
| 509 | Myopia | Enrichment | COL4A4 | 0.79 |
| 510 | Anterior segment dysgenesis | Enrichment | COL4A1 | 0.79 |
| 511 | Atypical hemolytic-uremic syndrome | Enrichment | COL4A5 | 0.79 |
| 512 | Autosomal dominant polycystic kidney disease | Enrichment | PKD1 | 0.79 |
| 513 | Septopreoptic holoprosencephaly | Enrichment | DLL1 | 0.79 |
| 514 | Midline interhemispheric variant of holoprosencephaly | Enrichment | DLL1 | 0.79 |
| 515 | Creatine phosphokinase, elevated serum | Enrichment | PKD1 | 0.76 |
| 516 | Wolff-parkinson-white syndrome | Enrichment | JUP | 0.76 |
| 517 | Isolated elevated serum creatine phosphokinase levels | Enrichment | PKD1 | 0.76 |
| 518 | Gliosarcoma | Enrichment | TP53 | 0.76 |
| 519 | Isolated congenital microcephaly | Enrichment | OCLN | 0.76 |
| 520 | Microform holoprosencephaly | Enrichment | DLL1 | 0.76 |
| 521 | Lobar holoprosencephaly | Enrichment | DLL1 | 0.76 |
| 522 | Microcephaly | Enrichment | COL4A1, CTNNB1, MAPK1 | 0.75 |
| 523 | Interstitial lung disease 2 | Enrichment | DSP | 0.74 |
| 524 | Cardiomyopathy, dilated, 1e | Enrichment | PKP2 | 0.74 |
| 525 | Giant cell glioblastoma | Enrichment | TP53 | 0.74 |
| 526 | Alobar holoprosencephaly | Enrichment | DLL1 | 0.74 |
| 527 | Semilobar holoprosencephaly | Enrichment | DLL1 | 0.71 |
| 528 | Diffuse large b-cell lymphoma | Enrichment | TP53 | 0.69 |
| 529 | Macs syndrome | Enrichment | WNT7B | 0.67 |
| 530 | Cardiomyopathy, dilated, 1a | Enrichment | DSP | 0.65 |
| 531 | Cardiomyopathy, dilated, 1g | Enrichment | DSP | 0.64 |
| 532 | Microphthalmia | Enrichment | WNT7B | 0.64 |
| 533 | Diamond-blackfan anemia 1 | Enrichment | TP53 | 0.62 |
| 534 | Cardiomyopathy, familial hypertrophic, 1 | Enrichment | RAF1 | 0.60 |
| 535 | Brugada syndrome | Enrichment | PKP2 | 0.57 |
| 536 | Long qt syndrome | Enrichment | DSP | 0.51 |
| 537 | Cystic fibrosis | Enrichment | TGFB1 | 0.50 |
| 538 | Familial hypertrophic cardiomyopathy | Enrichment | RAF1 | 0.49 |
| 539 | Male infertility | Enrichment | CLDN2 | 0.48 |
| 540 | Cakut | Enrichment | COL4A1 | 0.48 |
| 541 | Genetic steroid-resistant nephrotic syndrome | Enrichment | COL4A3 | 0.48 |
| 542 | Diamond-blackfan anemia | Enrichment | TP53 | 0.46 |
| 543 | Mitochondrial complex i deficiency, nuclear type 1 | Enrichment | NUBPL | 0.44 |
| 544 | Autism spectrum disorder | Enrichment | EED, MAP2K1 | 0.43 |
| 545 | Distal arthrogryposis | Enrichment | FZD3 | 0.40 |
| 546 | Hypertrophic cardiomyopathy | Enrichment | PKP2 | 0.40 |
| 547 | Sensorineural hearing loss | Enrichment | CLDN14 | 0.36 |
| 548 | Thrombocytopenia | Enrichment | SMAD4 | 0.36 |
| 549 | Autosomal dominant non-syndromic intellectual disability | Enrichment | DLL1 | 0.35 |
| 550 | Hypertelorism | Enrichment | PIK3CA | 0.33 |
| 551 | Autosomal recessive non-syndromic intellectual disability | Enrichment | TUSC3 | 0.30 |
| 552 | Primary ovarian insufficiency | Enrichment | NOTCH2 | 0.30 |
| 553 | Deafness, autosomal recessive | Enrichment | CLDN14 | 0.28 |
| 554 | Autosomal recessive nonsyndromic deafness | Enrichment | CLDN14 | 0.27 |
| 555 | Rare genetic deafness | Enrichment | COL4A5 | 0.21 |
| 556 | Rare autosomal recessive non-syndromic sensorineural deafness type dfnb | Enrichment | CLDN14 | 0.18 |
| 557 | Hereditary retinal dystrophy | Enrichment | FZD4, JAG1, LRP5 | 0.17 |
| 558 | Fundus dystrophy | Enrichment | FZD4, JAG1, LRP5 | 0.17 |
| 559 | Complex neurodevelopmental disorder | Enrichment | PALS1 | 0.11 |