| 1 | Nephrotic syndrome | Enrichment | COL4A3, COL4A4, COL4A5, FN1, ITGA3, LAMA5, LAMB2 | 7.73 |
| 2 | Junctional epidermolysis bullosa | Enrichment | ITGA6, LAMA3, LAMB3, LAMC2 | 6.54 |
| 3 | Digenic alport syndrome | Enrichment | COL4A3, COL4A4, COL4A5 | 6.46 |
| 4 | Breast cancer | Enrichment | AKT1, CASP8, CDKN2B, CKS1B, PIK3CA, PTEN, TP53 | 6.02 |
| 5 | Megalencephaly-capillary malformation-polymicrogyria syndrome | Enrichment | AKT3, PIK3CA, PIK3R2 | 5.86 |
| 6 | Bladder cancer | Enrichment | CDKN1A, PIK3CA, PTEN, RB1, TP53 | 5.78 |
| 7 | Kidney disease | Enrichment | COL4A3, COL4A4, COL4A5, LAMB2 | 5.52 |
| 8 | Alport syndrome 3a, autosomal dominant | Enrichment | COL4A3, COL4A4, COL4A5 | 5.47 |
| 9 | Autosomal dominant alport syndrome | Enrichment | COL4A3, COL4A4, COL4A5 | 5.47 |
| 10 | Hemimegalencephaly | Enrichment | AKT3, PIK3CA, PTEN | 5.47 |
| 11 | Alport syndrome | Enrichment | COL4A3, COL4A4, COL4A5 | 5.47 |
| 12 | Epidermolysis bullosa, junctional 1a, intermediate | Enrichment | LAMA3, LAMB3, LAMC2 | 5.17 |
| 13 | Epidermolysis bullosa, junctional 1b, severe | Enrichment | LAMA3, LAMB3, LAMC2 | 5.17 |
| 14 | Junctional epidermolysis bullosa non-herlitz type | Enrichment | LAMA3, LAMB3, LAMC2 | 5.17 |
| 15 | Breast adenocarcinoma | Enrichment | AKT1, PIK3CA, TP53 | 5.17 |
| 16 | Multiple endocrine neoplasia, type i | Enrichment | CDKN1A, CDKN1B, CDKN2B | 4.93 |
| 17 | Adult hepatocellular carcinoma | Enrichment | CASP8, PIK3CA, TP53 | 4.55 |
| 18 | Cowden syndrome | Enrichment | AKT1, PIK3CA, PTEN | 4.55 |
| 19 | Colorectal cancer | Enrichment | AKT1, BAX, CCND1, PIK3CA, PIK3R1, TP53 | 4.47 |
| 20 | Myeloma, multiple | Enrichment | CCND1, PIK3R2, RXRA, TP53, TRAF5 | 4.34 |
| 21 | Prostate cancer | Enrichment | PIK3CA, POLK, PTEN, TP53 | 4.31 |
| 22 | Ectodermal dysplasia and immune deficiency | Enrichment | IKBKG, NFKBIA | 4.30 |
| 23 | X-linked diffuse leiomyomatosis-alport syndrome | Enrichment | COL4A5, COL4A6 | 4.30 |
| 24 | Meningioma | Enrichment | AKT1, PIK3CA, PTEN | 4.14 |
| 25 | Lip and oral cavity carcinoma | Enrichment | PIK3CA, RB1, TP53 | 4.14 |
| 26 | Ovarian cancer | Enrichment | AKT1, CDKN1B, PIK3CA, PTEN, RB1, TP53 | 4.10 |
| 27 | Hematuria, benign familial, 1 | Enrichment | COL4A3, COL4A4 | 3.83 |
| 28 | Osteogenic sarcoma | Enrichment | RB1, TP53 | 3.83 |
| 29 | Nasopharyngeal carcinoma | Enrichment | NFKBIA, TP53 | 3.83 |
| 30 | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | Enrichment | PIK3CA, PIK3R1 | 3.83 |
| 31 | Immunodeficiency 14a with lymphoproliferation, autosomal dominant | Enrichment | PIK3CD, PIK3R1 | 3.83 |
| 32 | High-grade b-cell lymphoma double-hit/triple-hit | Enrichment | BCL2, MYC | 3.83 |
| 33 | Immunodeficiency 14 | Enrichment | PIK3CD, PIK3R1 | 3.83 |
| 34 | Squamous cell carcinoma | Enrichment | RB1, TP53 | 3.83 |
| 35 | Bone osteosarcoma | Enrichment | RB1, TP53 | 3.83 |
| 36 | Gastric cancer | Enrichment | CDK4, PIK3CA, PTEN, TP53 | 3.63 |
| 37 | Hereditary breast carcinoma | Enrichment | AKT1, PIK3CA, PTEN, TP53 | 3.59 |
| 38 | Brain small vessel disease 1 with or without ocular anomalies | Enrichment | COL4A1, COL4A2 | 3.53 |
| 39 | Small cell cancer of the lung | Enrichment | RB1, TP53 | 3.53 |
| 40 | Alport syndrome 2, autosomal recessive | Enrichment | COL4A3, COL4A4 | 3.53 |
| 41 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | Enrichment | AKT3, PIK3R2 | 3.53 |
| 42 | Autosomal recessive alport syndrome | Enrichment | COL4A3, COL4A4 | 3.53 |
| 43 | Inherited cancer-predisposing syndrome | Enrichment | CDK4, CDKN1B, MAX, PTEN, RB1, TP53 | 3.46 |
| 44 | Hepatocellular carcinoma | Enrichment | CASP8, PIK3CA, TP53 | 3.32 |
| 45 | Epidermolysis bullosa | Enrichment | ITGA6, LAMB3 | 3.31 |
| 46 | Acute megakaryocytic leukemia | Enrichment | PTEN, TP53 | 3.31 |
| 47 | Familial porencephaly | Enrichment | COL4A1, COL4A2 | 3.31 |
| 48 | Cowden syndrome 1 | Enrichment | PIK3CA, PTEN | 3.14 |
| 49 | Hemorrhage, intracerebral | Enrichment | COL4A1, COL4A2 | 3.14 |
| 50 | Fetomaternal alloimmune thrombocytopenia 1 | Enrichment | ITGA2, ITGA2B | 3.14 |
| 51 | Squamous cell carcinoma, head and neck | Enrichment | PTEN, TP53 | 2.99 |
| 52 | Gallbladder cancer | Enrichment | PIK3CA, TP53 | 2.99 |
| 53 | Megacolon | Enrichment | AKT3, FHIT | 2.99 |
| 54 | Leukemia, chronic lymphocytic | Enrichment | CCND1, TP53 | 2.67 |
| 55 | Autosomal non-syndromic agammaglobulinemia | Enrichment | PIK3CD, PIK3R1 | 2.67 |
| 56 | Chronic kidney disease | Enrichment | COL4A4, COL4A5 | 2.43 |
| 57 | Multiple sclerosis | Enrichment | LAMA5, LAMB1 | 2.37 |
| 58 | Lung cancer susceptibility 3 | Enrichment | RB1, TP53 | 2.37 |
| 59 | Hypertension | Enrichment | COL4A4, COL4A5 | 2.25 |
| 60 | Rhabdomyosarcoma | Enrichment | PTEN, TP53 | 2.25 |
| 61 | Gliosarcoma | Enrichment | NFKBIA, TP53 | 2.25 |
| 62 | Melanoma, cutaneous malignant 1 | Enrichment | CDK4, CDKN2B | 2.20 |
| 63 | Giant cell glioblastoma | Enrichment | NFKBIA, TP53 | 2.20 |
| 64 | Hereditary breast ovarian cancer syndrome | Enrichment | FHIT, PTEN, TP53 | 2.16 |
| 65 | Macrodactyly | Enrichment | PIK3CA | 2.15 |
| 66 | Proteus syndrome | Enrichment | AKT1 | 2.15 |
| 67 | Hypoinsulinemic hypoglycemia with hemihypertrophy | Enrichment | AKT2 | 2.15 |
| 68 | Vacterl association with hydrocephalus | Enrichment | PTEN | 2.15 |
| 69 | Alport syndrome 1, x-linked | Enrichment | COL4A5 | 2.15 |
| 70 | Incontinentia pigmenti | Enrichment | IKBKG | 2.15 |
| 71 | Autoinflammatory disease, systemic, x-linked | Enrichment | IKBKG | 2.15 |
| 72 | Caspase 8 deficiency | Enrichment | CASP8 | 2.15 |
| 73 | Melanoma, cutaneous malignant 3 | Enrichment | CDK4 | 2.15 |
| 74 | Megalencephaly, autosomal dominant | Enrichment | PIK3CA | 2.15 |
| 75 | Cardiomyopathy, dilated, 1jj | Enrichment | LAMA4 | 2.15 |
| 76 | Cowden syndrome 5 | Enrichment | PIK3CA | 2.15 |
| 77 | Microcephaly 12, primary, autosomal recessive | Enrichment | CDK6 | 2.15 |
| 78 | Lissencephaly 5 | Enrichment | LAMB1 | 2.15 |
| 79 | Fetal encasement syndrome | Enrichment | CHUK | 2.15 |
| 80 | Cerebral cavernous malformations 4 | Enrichment | PIK3CA | 2.15 |
| 81 | Immunodeficiency 15b | Enrichment | IKBKB | 2.15 |
| 82 | Nephrotic syndrome, type 26 | Enrichment | LAMA5 | 2.15 |
| 83 | Deafness, x-linked 6 | Enrichment | COL4A6 | 2.15 |
| 84 | Immunodeficiency 15a | Enrichment | IKBKB | 2.15 |
| 85 | Short syndrome | Enrichment | PIK3R1 | 2.15 |
| 86 | Bone marrow failure syndrome 5 | Enrichment | TP53 | 2.15 |
| 87 | Fetomaternal alloimmune thrombocytopenia 2 | Enrichment | ITGA2B | 2.15 |
| 88 | Ectodermal dysplasia and immunodeficiency 1 | Enrichment | IKBKG | 2.15 |
| 89 | Papilloma of choroid plexus | Enrichment | TP53 | 2.15 |
| 90 | Basal cell carcinoma 7 | Enrichment | TP53 | 2.15 |
| 91 | Porencephaly | Enrichment | COL4A1 | 2.15 |
| 92 | Immunodeficiency 132a | Enrichment | TRAF3 | 2.15 |
| 93 | Immunodeficiency 132b | Enrichment | TRAF3 | 2.15 |
| 94 | Anaplastic thyroid carcinoma | Enrichment | TP53 | 2.15 |
| 95 | Papillary tumor of the pineal region | Enrichment | PTEN | 2.15 |
| 96 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | Enrichment | AKT3 | 2.15 |
| 97 | Thrombocytopenia 4 | Enrichment | CYCS | 2.15 |
| 98 | Hemifacial myohyperplasia | Enrichment | PIK3CA | 2.15 |
| 99 | Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth | Enrichment | PIK3CA | 2.15 |
| 100 | Neuroendocrine tumor | Enrichment | CDKN1B | 2.15 |
| 101 | Cortical malformations, occipital | Enrichment | LAMC3 | 2.15 |
| 102 | Immunodeficiency 36 with lymphoproliferation | Enrichment | PIK3R1 | 2.15 |
| 103 | Polydactyly-macrocephaly syndrome | Enrichment | MAX | 2.15 |
| 104 | Cowden syndrome 6 | Enrichment | AKT1 | 2.15 |
| 105 | Microphthalmia, syndromic 12 | Enrichment | RARB | 2.15 |
| 106 | Immunodeficiency 14b, autosomal recessive | Enrichment | PIK3CD | 2.15 |
| 107 | Agammaglobulinemia 7, autosomal recessive | Enrichment | PIK3R1 | 2.15 |
| 108 | Glioma susceptibility 2 | Enrichment | PTEN | 2.15 |
| 109 | Ductal carcinoma in situ | Enrichment | TP53 | 2.15 |
| 110 | Bartsocas-papas syndrome 2 | Enrichment | CHUK | 2.15 |
| 111 | Bent bone dysplasia syndrome 2 | Enrichment | LAMA5 | 2.15 |
| 112 | Segmental progressive overgrowth syndrome with fibroadipose hyperplasia | Enrichment | PIK3CA | 2.15 |
| 113 | Thyroid gland undifferentiated carcinoma | Enrichment | TP53 | 2.15 |
| 114 | Trilateral retinoblastoma | Enrichment | RB1 | 2.15 |
| 115 | Small-cell carcinoma of the ovary of hypercalcemic type | Enrichment | TP53 | 2.15 |
| 116 | Col4a1-related disorders | Enrichment | COL4A1 | 2.15 |
| 117 | Occipital pachygyria and polymicrogyria | Enrichment | LAMC3 | 2.15 |
| 118 | Hypospadias | Enrichment | PIK3CA | 2.15 |
| 119 | Capillary hemangioma | Enrichment | AKT3 | 2.15 |
| 120 | Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtype | Enrichment | TP53 | 2.15 |
| 121 | Choroid plexus cancer | Enrichment | TP53 | 2.15 |
| 122 | Rare venous malformation | Enrichment | PIK3CA | 2.15 |
| 123 | Fetomaternal alloimmune thrombocytopenia 3 | Enrichment | ITGA2 | 2.15 |
| 124 | Col4a1 or col4a2-related cerebral small vessel disease | Enrichment | COL4A1 | 2.15 |
| 125 | Immune dysregulation, neurodevelopmental defects, and colitis | Enrichment | ITGAV | 2.15 |
| 126 | Diaphragmatic eventration | Enrichment | PIK3CA | 2.15 |
| 127 | X-linked alport syndrome | Enrichment | COL4A5 | 2.15 |
| 128 | Pik3ca-related overgrowth spectrum | Enrichment | PIK3CA | 2.15 |
| 129 | Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to ikbka deficiency | Enrichment | CHUK | 2.15 |
| 130 | Pleomorphic xanthoastrocytoma | Enrichment | TP53 | 2.15 |
| 131 | Rare combined vascular malformation | Enrichment | PIK3CA | 2.15 |
| 132 | Cavernous lymphangioma | Enrichment | PIK3CA | 2.15 |
| 133 | Pik3ca-related overgrowth syndrome | Enrichment | PIK3CA | 2.15 |
| 134 | Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome | Enrichment | CDKN1C | 2.15 |
| 135 | Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome | Enrichment | PTEN | 2.15 |
| 136 | Hemihyperplasia-multiple lipomatosis syndrome | Enrichment | PIK3CA | 2.15 |
| 137 | Lama5-related multisystemic syndrome | Enrichment | LAMA5 | 2.15 |
| 138 | Eccrine angiomatous hamartoma | Enrichment | PIK3CA | 2.15 |
| 139 | Macrodactyly of toe | Enrichment | PIK3CA | 2.15 |
| 140 | Laminin subunit alpha 2-related muscular dystrophy | Enrichment | LAMA2 | 2.15 |
| 141 | Akt2-related familial partial lipodystrophy | Enrichment | AKT2 | 2.15 |
| 142 | Lung oat cell carcinoma | Enrichment | RB1 | 2.15 |
| 143 | Diffuse large b-cell lymphoma | Enrichment | PTEN, TP53 | 2.11 |
| 144 | Focal segmental glomerulosclerosis | Enrichment | COL4A4, COL4A5 | 2.06 |
| 145 | Endometrial cancer | Enrichment | PIK3CA, PTEN | 2.02 |
| 146 | Skin disease | Enrichment | LAMB3, LAMC2 | 1.98 |
| 147 | Malaria | Enrichment | IKBKG, NOS2 | 1.94 |
| 148 | Amelogenesis imperfecta, type ia | Enrichment | LAMB3 | 1.85 |
| 149 | Burkitt lymphoma | Enrichment | MYC | 1.85 |
| 150 | Adrenocortical carcinoma, hereditary | Enrichment | TP53 | 1.85 |
| 151 | Spondyloepimetaphyseal dysplasia, strudwick type | Enrichment | FN1 | 1.85 |
| 152 | Spondylometaphyseal dysplasia, corner fracture type | Enrichment | FN1 | 1.85 |
| 153 | Epidermolysis bullosa, junctional 2c, laryngoonychocutaneous | Enrichment | LAMA3 | 1.85 |
| 154 | Myasthenic syndrome, congenital, 5 | Enrichment | LAMB2 | 1.85 |
| 155 | Cervical cancer | Enrichment | TP53 | 1.85 |
| 156 | Immunodeficiency 33 | Enrichment | IKBKG | 1.85 |
| 157 | Xeroderma pigmentosum, complementation group e | Enrichment | DDB2 | 1.85 |
| 158 | Ectodermal dysplasia and immunodeficiency 2 | Enrichment | NFKBIA | 1.85 |
| 159 | Keratosis, seborrheic | Enrichment | PIK3CA | 1.85 |
| 160 | Lissencephaly 1 | Enrichment | LAMB1 | 1.85 |
| 161 | Roifman-chitayat syndrome | Enrichment | PIK3CD | 1.85 |
| 162 | Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies | Enrichment | CDKN1C | 1.85 |
| 163 | Neurodevelopmental disorder with hypotonia, speech delay, and dysmorphic facies | Enrichment | POLK | 1.85 |
| 164 | Specific language impairment 5 | Enrichment | COL4A4 | 1.85 |
| 165 | Chromosome 13q14 deletion syndrome | Enrichment | RB1 | 1.85 |
| 166 | Noonan syndrome 8 | Enrichment | PIK3CA | 1.85 |
| 167 | Pierson syndrome | Enrichment | LAMB2 | 1.85 |
| 168 | Lymphoma, hodgkin, classic | Enrichment | TP53 | 1.85 |
| 169 | Immunodeficiency, common variable, 12, with autoimmunity | Enrichment | NFKB1 | 1.85 |
| 170 | Multiple endocrine neoplasia, type iv | Enrichment | CDKN1B | 1.85 |
| 171 | Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 | Enrichment | COL4A2 | 1.85 |
| 172 | Epidermolysis bullosa, junctional 3b, severe | Enrichment | LAMC2 | 1.85 |
| 173 | Epidermolysis bullosa, junctional 3a, intermediate | Enrichment | LAMC2 | 1.85 |
| 174 | Intellectual developmental disorder, autosomal dominant 48 | Enrichment | RARB | 1.85 |
| 175 | Epidermolysis bullosa, junctional 2a, intermediate | Enrichment | LAMA3 | 1.85 |
| 176 | Autoinflammatory disease, familial, behcet-like 3 | Enrichment | RELA | 1.85 |
| 177 | Intravascular large b-cell lymphoma | Enrichment | BCL2 | 1.85 |
| 178 | Nephrotic syndrome, type 5, with or without ocular abnormalities | Enrichment | LAMB2 | 1.85 |
| 179 | Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome | Enrichment | ITGA3 | 1.85 |
| 180 | Rela fusion-positive ependymoma | Enrichment | RELA | 1.85 |
| 181 | Senior-loken syndrome 7 | Enrichment | AKT3 | 1.85 |
| 182 | Rosette-forming glioneuronal tumor | Enrichment | PIK3CA | 1.85 |
| 183 | Congenital fibrosarcoma | Enrichment | TP53 | 1.85 |
| 184 | Glomerulonephritis | Enrichment | COL4A4 | 1.85 |
| 185 | Li-fraumeni syndrome 1 | Enrichment | TP53 | 1.85 |
| 186 | Sarcoma | Enrichment | TP53 | 1.85 |
| 187 | Cervix carcinoma | Enrichment | TP53 | 1.85 |
| 188 | Immune system disease | Enrichment | PIK3CD | 1.85 |
| 189 | Hodgkin's lymphoma | Enrichment | TP53 | 1.85 |
| 190 | Bardet-biedl syndrome 16 | Enrichment | AKT3 | 1.85 |
| 191 | Epidermolysis bullosa, junctional 2b, severe | Enrichment | LAMA3 | 1.85 |
| 192 | Glucosephosphate dehydrogenase deficiency | Enrichment | IKBKG | 1.85 |
| 193 | Vacterl with hydrocephalus | Enrichment | PTEN | 1.85 |
| 194 | Familial retinoblastoma | Enrichment | RB1 | 1.85 |
| 195 | Common variable immunodeficiency 12 | Enrichment | NFKB1 | 1.85 |
| 196 | Juvenile polyposis of infancy | Enrichment | PTEN | 1.85 |
| 197 | Xeroderma pigmentosum group e | Enrichment | DDB2 | 1.85 |
| 198 | Pleomorphic rhabdomyosarcoma | Enrichment | TP53 | 1.85 |
| 199 | Retinal arteries, tortuosity of | Enrichment | COL4A1 | 1.68 |
| 200 | Retinoblastoma | Enrichment | RB1 | 1.68 |
| 201 | Bleeding disorder, platelet-type, 16 | Enrichment | ITGA2B | 1.68 |
| 202 | Pompe disease, infantile-onset | Enrichment | PIK3CA | 1.68 |
| 203 | Glomerulopathy with fibronectin deposits 2 | Enrichment | FN1 | 1.68 |
| 204 | Muscular dystrophy, congenital merosin-deficient, 1a | Enrichment | LAMA2 | 1.68 |
| 205 | Brain small vessel disease 2 | Enrichment | COL4A2 | 1.68 |
| 206 | Woolly hair, autosomal recessive 3 | Enrichment | RB1 | 1.68 |
| 207 | Microangiopathy and leukoencephalopathy, pontine, autosomal dominant | Enrichment | COL4A1 | 1.68 |
| 208 | Epidermolysis bullosa, junctional 6, with pyloric atresia | Enrichment | ITGA6 | 1.68 |
| 209 | Pilarowski-bjornsson syndrome | Enrichment | COL4A3 | 1.68 |
| 210 | Hypotrichosis 8 | Enrichment | RB1 | 1.68 |
| 211 | Alport syndrome 3b, autosomal recessive | Enrichment | COL4A3 | 1.68 |
| 212 | Dedifferentiated liposarcoma | Enrichment | CDK4 | 1.68 |
| 213 | Poretti-boltshauser syndrome | Enrichment | LAMA1 | 1.68 |
| 214 | Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps | Enrichment | COL4A1 | 1.68 |
| 215 | Atypical teratoid rhabdoid tumor | Enrichment | TP53 | 1.68 |
| 216 | Anaplastic astrocytoma | Enrichment | TP53 | 1.68 |
| 217 | T-cell acute lymphoblastic leukemia | Enrichment | BAX | 1.68 |
| 218 | Adenocarcinoma | Enrichment | TP53 | 1.68 |
| 219 | Hematuria, benign familial, 2 | Enrichment | COL4A3 | 1.68 |
| 220 | Laryngeal squamous cell carcinoma | Enrichment | PTEN | 1.68 |
| 221 | Well-differentiated liposarcoma | Enrichment | CDK4 | 1.68 |
| 222 | Keratoacanthoma | Enrichment | PIK3CA | 1.68 |
| 223 | Lama2-related muscular dystrophy | Enrichment | LAMA2 | 1.68 |
| 224 | Lung cancer | Enrichment | CASP8, PIK3CA | 1.67 |
| 225 | Genetic steroid-resistant nephrotic syndrome | Enrichment | COL4A3, LAMA5 | 1.62 |
| 226 | Schizencephaly | Enrichment | COL4A1 | 1.55 |
| 227 | Thyroid cancer, nonmedullary, 1 | Enrichment | TP53 | 1.55 |
| 228 | Lynch syndrome 4 | Enrichment | RB1 | 1.55 |
| 229 | Mantle cell lymphoma | Enrichment | CCND1 | 1.55 |
| 230 | Lung sarcomatoid carcinoma | Enrichment | TP53 | 1.55 |
| 231 | Cerebrovascular disease | Enrichment | PIK3CA | 1.55 |
| 232 | Embryonal rhabdomyosarcoma | Enrichment | TP53 | 1.55 |
| 233 | Familial cerebral cavernous malformations | Enrichment | PIK3CA | 1.55 |
| 234 | Silver-russell syndrome due to a point mutation | Enrichment | CDKN1C | 1.55 |
| 235 | Primary hyperparathyroidism | Enrichment | CDKN1B | 1.55 |
| 236 | Glioma | Enrichment | PTEN | 1.55 |
| 237 | Rare x-linked non-syndromic sensorineural deafness type dfn | Enrichment | COL4A6 | 1.55 |
| 238 | Cerebral palsy | Enrichment | COL4A1, COL4A2 | 1.51 |
| 239 | Ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant | Enrichment | TRAF6 | 1.46 |
| 240 | Lymphoma, mucosa-associated lymphoid type | Enrichment | BIRC3 | 1.46 |
| 241 | Capillary malformations, congenital | Enrichment | PIK3CA | 1.46 |
| 242 | Von hippel-lindau syndrome | Enrichment | CCND1 | 1.46 |
| 243 | Anemia, congenital, nonspherocytic hemolytic, 1 | Enrichment | IKBKG | 1.46 |
| 244 | Rhabdomyosarcoma 2 | Enrichment | TP53 | 1.46 |
| 245 | Macrocephaly/autism syndrome | Enrichment | PTEN | 1.46 |
| 246 | Muscular dystrophy, limb-girdle, autosomal recessive 23 | Enrichment | LAMA2 | 1.46 |
| 247 | Follicular lymphoma | Enrichment | BCL2 | 1.46 |
| 248 | Lymphoma | Enrichment | TP53 | 1.46 |
| 249 | Hemangioma | Enrichment | PTEN | 1.46 |
| 250 | Autosomal thrombocytopenia with normal platelets | Enrichment | CYCS | 1.46 |
| 251 | Herpes simplex virus encephalitis | Enrichment | TRAF3 | 1.46 |
| 252 | Klippel-trenaunay-weber syndrome | Enrichment | PIK3CA | 1.38 |
| 253 | Li-fraumeni syndrome | Enrichment | TP53 | 1.38 |
| 254 | Hemihyperplasia, isolated | Enrichment | PIK3CA | 1.38 |
| 255 | Epidermolysis bullosa, junctional 5b, with pyloric atresia | Enrichment | ITGA6 | 1.38 |
| 256 | Anterior segment dysgenesis 5 | Enrichment | COL4A1 | 1.38 |
| 257 | Keratoconus | Enrichment | COL4A1 | 1.38 |
| 258 | Adrenocortical carcinoma | Enrichment | TP53 | 1.38 |
| 259 | Lung squamous cell carcinoma | Enrichment | PIK3CA | 1.38 |
| 260 | Thrombocytopenia | Enrichment | CYCS, ITGA2B | 1.34 |
| 261 | Esophageal cancer | Enrichment | TP53 | 1.31 |
| 262 | Nevus, epidermal | Enrichment | PIK3CA | 1.31 |
| 263 | Thyroid cancer, nonmedullary, 2 | Enrichment | PTEN | 1.31 |
| 264 | Glanzmann thrombasthenia 1 | Enrichment | ITGA2B | 1.31 |
| 265 | Capillary malformation-arteriovenous malformation 1 | Enrichment | PIK3CA | 1.31 |
| 266 | Essential thrombocythemia | Enrichment | TP53 | 1.31 |
| 267 | Common variable immunodeficiency | Enrichment | NFKB1 | 1.31 |
| 268 | Follicular thyroid carcinoma | Enrichment | PTEN | 1.31 |
| 269 | Overgrowth syndrome | Enrichment | PIK3R1 | 1.31 |
| 270 | Hereditary clear cell renal cell carcinoma | Enrichment | FHIT | 1.31 |
| 271 | B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) | Enrichment | TP53 | 1.31 |
| 272 | Glioma susceptibility 1 | Enrichment | TP53 | 1.26 |
| 273 | Lymphoma, non-hodgkin, familial | Enrichment | TP53 | 1.26 |
| 274 | Congenital muscular dystrophy | Enrichment | LAMA2 | 1.26 |
| 275 | Coronary heart disease 5 | Enrichment | IKBKG | 1.21 |
| 276 | Arteriovenous malformation | Enrichment | PIK3CA | 1.21 |
| 277 | Primary hyperaldosteronism | Enrichment | TP53 | 1.21 |
| 278 | Peters-plus syndrome | Enrichment | COL4A1 | 1.16 |
| 279 | Amelogenesis imperfecta, type ie | Enrichment | LAMB3 | 1.16 |
| 280 | Myopathy, x-linked, with excessive autophagy | Enrichment | PIK3CA | 1.16 |
| 281 | Ciliary dyskinesia, primary, 3 | Enrichment | NFKB1 | 1.16 |
| 282 | Polymicrogyria | Enrichment | AKT3 | 1.16 |
| 283 | Melanoma | Enrichment | PTEN | 1.16 |
| 284 | Autosomal dominant macrothrombocytopenia | Enrichment | ITGA2B | 1.16 |
| 285 | Familial colorectal cancer | Enrichment | TP53 | 1.16 |
| 286 | Xeroderma pigmentosum, variant type | Enrichment | DDB2 | 1.12 |
| 287 | Meningioma, familial | Enrichment | PTEN | 1.12 |
| 288 | Myelodysplastic syndrome | Enrichment | TP53 | 1.12 |
| 289 | Lung non-small cell carcinoma | Enrichment | PIK3CA | 1.12 |
| 290 | Uterine corpus cancer | Enrichment | PTEN | 1.12 |
| 291 | Presynaptic congenital myasthenic syndromes | Enrichment | LAMA5 | 1.12 |
| 292 | Microphthalmia/coloboma 12 | Enrichment | RARB | 1.05 |
| 293 | Neural tube defects | Enrichment | ITGB1 | 1.05 |
| 294 | Amelogenesis imperfecta | Enrichment | LAMB3 | 1.05 |
| 295 | Nk-cell enteropathy | Enrichment | PIK3CB | 1.05 |
| 296 | Pheochromocytoma | Enrichment | MAX | 1.02 |
| 297 | Walker-warburg syndrome | Enrichment | COL4A1 | 1.02 |
| 298 | Isolated macular dystrophy | Enrichment | COL4A5 | 1.02 |
| 299 | Coloboma of macula | Enrichment | RARB | 1.00 |
| 300 | Corpus callosum, agenesis of | Enrichment | COL4A1 | 1.00 |
| 301 | Myopia | Enrichment | COL4A4 | 1.00 |
| 302 | Anterior segment dysgenesis | Enrichment | COL4A1 | 1.00 |
| 303 | Atypical hemolytic-uremic syndrome | Enrichment | COL4A5 | 1.00 |
| 304 | Lynch syndrome | Enrichment | PIK3CA | 1.00 |
| 305 | Isolated corpus callosum agenesis | Enrichment | COL4A1 | 1.00 |
| 306 | Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome | Enrichment | COL4A1 | 1.00 |
| 307 | Creatine phosphokinase, elevated serum | Enrichment | LAMA2 | 0.97 |
| 308 | Isolated elevated serum creatine phosphokinase levels | Enrichment | LAMA2 | 0.97 |
| 309 | Beckwith-wiedemann syndrome | Enrichment | CDKN1C | 0.92 |
| 310 | Polycystic kidney disease | Enrichment | COL4A4 | 0.92 |
| 311 | Williams-beuren syndrome | Enrichment | CDKN1C | 0.88 |
| 312 | Hepatoblastoma | Enrichment | TP53 | 0.86 |
| 313 | Hereditary paraganglioma-pheochromocytoma syndromes | Enrichment | MAX | 0.86 |
| 314 | Microphthalmia | Enrichment | RARB | 0.84 |
| 315 | Multisystem inflammatory syndrome in children | Enrichment | TRAF3 | 0.84 |
| 316 | Diamond-blackfan anemia 1 | Enrichment | TP53 | 0.82 |
| 317 | Precursor t-cell acute lymphoblastic leukemia | Enrichment | MYC | 0.82 |
| 318 | Pancreatic cancer | Enrichment | TP53 | 0.79 |
| 319 | Severe covid-19 | Enrichment | ITGAV | 0.73 |
| 320 | Primary autosomal recessive microcephaly | Enrichment | CDK6 | 0.69 |
| 321 | Severe combined immunodeficiency | Enrichment | IKBKB | 0.68 |
| 322 | Cakut | Enrichment | COL4A1 | 0.67 |
| 323 | Diamond-blackfan anemia | Enrichment | TP53 | 0.65 |
| 324 | Leukemia, acute myeloid | Enrichment | TP53 | 0.61 |
| 325 | Charcot-marie-tooth disease | Enrichment | LAMA2 | 0.60 |
| 326 | Type 2 diabetes mellitus | Enrichment | AKT2 | 0.59 |
| 327 | Hypertelorism | Enrichment | PIK3CA | 0.51 |
| 328 | Familial isolated dilated cardiomyopathy | Enrichment | LAMA4 | 0.50 |
| 329 | Schizophrenia | Enrichment | FHIT | 0.46 |
| 330 | Autism | Enrichment | FHIT | 0.40 |
| 331 | Rare genetic deafness | Enrichment | COL4A5 | 0.37 |
| 332 | Dilated cardiomyopathy | Enrichment | LAMA2 | 0.36 |
| 333 | Congenital nervous system abnormality | Enrichment | PTEN | 0.28 |
| 334 | Nervous system disease | Enrichment | PTEN | 0.28 |
| 335 | Autism spectrum disorder | Enrichment | PTEN | 0.27 |
| 336 | Microcephaly | Enrichment | COL4A1 | 0.23 |
| 337 | Hereditary retinal dystrophy | Enrichment | LAMA1 | 0.06 |
| 338 | Fundus dystrophy | Enrichment | LAMA1 | 0.06 |