| 1 | Lung cancer susceptibility 3 | Enrichment | EGFR, RB1, ROS1, TP53 | 5.34 |
| 2 | Malaria | Enrichment | FCGR2A, ICAM1, NOS2, TNF | 4.42 |
| 3 | Lip and oral cavity carcinoma | Enrichment | EGFR, RB1, TP53 | 3.91 |
| 4 | Osteogenic sarcoma | Enrichment | RB1, TP53 | 3.67 |
| 5 | Squamous cell carcinoma | Enrichment | RB1, TP53 | 3.67 |
| 6 | Bone osteosarcoma | Enrichment | RB1, TP53 | 3.67 |
| 7 | Giant cell glioblastoma | Enrichment | EGFR, ROS1, TP53 | 3.43 |
| 8 | Small cell cancer of the lung | Enrichment | RB1, TP53 | 3.37 |
| 9 | Cerebral malaria | Enrichment | ICAM1, TNF | 3.37 |
| 10 | Systemic-onset juvenile idiopathic arthritis | Enrichment | IL6, MIF | 3.37 |
| 11 | Human immunodeficiency virus type 1 | Enrichment | CCL2, CCR2, IFNG | 3.36 |
| 12 | Rheumatoid arthritis, systemic juvenile | Enrichment | IL6, MIF | 3.15 |
| 13 | Histiocytoid hemangioma | Enrichment | FOS, VIM | 3.15 |
| 14 | Squamous cell carcinoma, head and neck | Enrichment | EGFR, TP53 | 2.84 |
| 15 | Bladder cancer | Enrichment | EGFR, RB1, TP53 | 2.73 |
| 16 | Cystic fibrosis | Enrichment | FCGR2A, MIF, TGFB1 | 2.61 |
| 17 | Congenital central hypoventilation syndrome | Enrichment | BDNF, GDNF | 2.61 |
| 18 | Leukemia, chronic lymphocytic | Enrichment | CCND1, TP53 | 2.51 |
| 19 | Stickler syndrome | Enrichment | COL2A1, VCAN | 2.51 |
| 20 | Familial colorectal cancer | Enrichment | PLA2G2A, TP53 | 2.51 |
| 21 | Inherited cancer-predisposing syndrome | Enrichment | CDK4, CDKN1B, EGFR, RB1, TP53 | 2.28 |
| 22 | Gastric cancer | Enrichment | CDK4, IL1B, TP53 | 2.24 |
| 23 | Colorectal cancer | Enrichment | CCND1, PLA2G2A, SOX9, TP53 | 2.20 |
| 24 | Gliosarcoma | Enrichment | EGFR, TP53 | 2.10 |
| 25 | Palmoplantar keratoderma and congenital alopecia 1 | Enrichment | GJA1 | 2.07 |
| 26 | Stickler syndrome, type i | Enrichment | COL2A1 | 2.07 |
| 27 | Short stature and advanced bone age with or without early-onset osteoarthritis and/or osteochondritis dissecans | Enrichment | ACAN | 2.07 |
| 28 | Pyloric stenosis, infantile hypertrophic, 1 | Enrichment | NOS1 | 2.07 |
| 29 | Epiphyseal dysplasia, multiple, with myopia and conductive deafness | Enrichment | COL2A1 | 2.07 |
| 30 | Hypoplastic left heart syndrome 1 | Enrichment | GJA1 | 2.07 |
| 31 | Spondylometaphyseal dysplasia, algerian type | Enrichment | COL2A1 | 2.07 |
| 32 | Complement component 5 deficiency | Enrichment | C5 | 2.07 |
| 33 | Osteoarthritis with mild chondrodysplasia | Enrichment | COL2A1 | 2.07 |
| 34 | Avascular necrosis of femoral head, primary, 1 | Enrichment | COL2A1 | 2.07 |
| 35 | Osteopetrosis and infantile neuroaxonal dystrophy | Enrichment | PLA2G6 | 2.07 |
| 36 | Czech dysplasia | Enrichment | COL2A1 | 2.07 |
| 37 | Melanoma, cutaneous malignant 3 | Enrichment | CDK4 | 2.07 |
| 38 | Oculodentodigital dysplasia | Enrichment | GJA1 | 2.07 |
| 39 | Kniest dysplasia | Enrichment | COL2A1 | 2.07 |
| 40 | Platyspondylic lethal skeletal dysplasia, torrance type | Enrichment | COL2A1 | 2.07 |
| 41 | Blood group, colton system | Enrichment | AQP1 | 2.07 |
| 42 | Polycystic lung disease | Enrichment | CCR2 | 2.07 |
| 43 | Fleck retina, familial benign | Enrichment | PLA2G5 | 2.07 |
| 44 | Spondyloepiphyseal dysplasia, stanescu type | Enrichment | COL2A1 | 2.07 |
| 45 | Eculizumab, poor response to | Enrichment | C5 | 2.07 |
| 46 | Achondrogenesis, type ii | Enrichment | COL2A1 | 2.07 |
| 47 | Craniometaphyseal dysplasia, autosomal recessive | Enrichment | GJA1 | 2.07 |
| 48 | Immunodeficiency 69 | Enrichment | IFNG | 2.07 |
| 49 | Noonan syndrome 13 | Enrichment | MAPK1 | 2.07 |
| 50 | 46,xy sex reversal 10 | Enrichment | SOX9 | 2.07 |
| 51 | Neurodegeneration with brain iron accumulation 2a | Enrichment | PLA2G6 | 2.07 |
| 52 | Developmental and epileptic encephalopathy 91 | Enrichment | PPP3CA | 2.07 |
| 53 | Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development | Enrichment | PPP3CA | 2.07 |
| 54 | Bone marrow failure syndrome 5 | Enrichment | TP53 | 2.07 |
| 55 | 46,xx sex reversal 2 | Enrichment | SOX9 | 2.07 |
| 56 | Papilloma of choroid plexus | Enrichment | TP53 | 2.07 |
| 57 | Mirror movements 4 | Enrichment | NTN1 | 2.07 |
| 58 | Spondyloperipheral dysplasia | Enrichment | COL2A1 | 2.07 |
| 59 | Basal cell carcinoma 7 | Enrichment | TP53 | 2.07 |
| 60 | Porencephaly | Enrichment | COL4A1 | 2.07 |
| 61 | Anaplastic thyroid carcinoma | Enrichment | TP53 | 2.07 |
| 62 | Oculodentodigital dysplasia, autosomal recessive | Enrichment | GJA1 | 2.07 |
| 63 | Chronic recurrent multifocal osteomyelitis 3 | Enrichment | IL1R1 | 2.07 |
| 64 | Spondyloepimetaphyseal dysplasia, aggrecan type | Enrichment | ACAN | 2.07 |
| 65 | Parkinson disease 14, autosomal recessive | Enrichment | PLA2G6 | 2.07 |
| 66 | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive | Enrichment | GRIN1 | 2.07 |
| 67 | Spondyloepiphyseal dysplasia, kimberley type | Enrichment | ACAN | 2.07 |
| 68 | Osteochondrodysplasia, brachydactyly, and overlapping malformed digits | Enrichment | CHST11 | 2.07 |
| 69 | Neuroendocrine tumor | Enrichment | CDKN1B | 2.07 |
| 70 | Neurodegeneration with brain iron accumulation 2b | Enrichment | PLA2G6 | 2.07 |
| 71 | Stickler syndrome, type i, nonsyndromic ocular | Enrichment | COL2A1 | 2.07 |
| 72 | Hirschsprung disease 3 | Enrichment | GDNF | 2.07 |
| 73 | Developmental and epileptic encephalopathy 101 | Enrichment | GRIN1 | 2.07 |
| 74 | Macular degeneration, age-related, 10 | Enrichment | TLR4 | 2.07 |
| 75 | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant | Enrichment | GRIN1 | 2.07 |
| 76 | Ductal carcinoma in situ | Enrichment | TP53 | 2.07 |
| 77 | Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies | Enrichment | RHOA | 2.07 |
| 78 | Spastic paraplegia 75, autosomal recessive | Enrichment | MAG | 2.07 |
| 79 | Erythrokeratodermia variabilis et progressiva 3 | Enrichment | GJA1 | 2.07 |
| 80 | Takenouchi-kosaki syndrome | Enrichment | CDC42 | 2.07 |
| 81 | Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies | Enrichment | RHOA | 2.07 |
| 82 | Vitreoretinopathy with phalangeal epiphyseal dysplasia | Enrichment | COL2A1 | 2.07 |
| 83 | Megalencephalic leukoencephalopathy with subcortical cysts 4, remitting | Enrichment | AQP4 | 2.07 |
| 84 | Thyroid gland undifferentiated carcinoma | Enrichment | TP53 | 2.07 |
| 85 | Trilateral retinoblastoma | Enrichment | RB1 | 2.07 |
| 86 | Small-cell carcinoma of the ovary of hypercalcemic type | Enrichment | TP53 | 2.07 |
| 87 | C1q deficiency 2 | Enrichment | C1QB | 2.07 |
| 88 | Col4a1-related disorders | Enrichment | COL4A1 | 2.07 |
| 89 | Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtype | Enrichment | TP53 | 2.07 |
| 90 | Autosomal dominant rhegmatogenous retinal detachment | Enrichment | COL2A1 | 2.07 |
| 91 | Choroid plexus cancer | Enrichment | TP53 | 2.07 |
| 92 | Col4a1 or col4a2-related cerebral small vessel disease | Enrichment | COL4A1 | 2.07 |
| 93 | Multiple epiphyseal dysplasia with myopia and deafness | Enrichment | COL2A1 | 2.07 |
| 94 | Hypochondrogenesis | Enrichment | COL2A1 | 2.07 |
| 95 | Nocarh syndrome | Enrichment | CDC42 | 2.07 |
| 96 | Osteochondritis dissecans | Enrichment | ACAN | 2.07 |
| 97 | Dysspondyloenchondromatosis | Enrichment | COL2A1 | 2.07 |
| 98 | Pleomorphic xanthoastrocytoma | Enrichment | TP53 | 2.07 |
| 99 | Intellectual disability, autosomal dominant 8 | Enrichment | GRIN1 | 2.07 |
| 100 | Xylt1-congenital disorder of glycosylation | Enrichment | XYLT1 | 2.07 |
| 101 | Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom | Enrichment | RAC1 | 2.07 |
| 102 | Premature aging | Enrichment | VIM | 2.07 |
| 103 | Type 2 collagen-related bone disorder | Enrichment | COL2A1 | 2.07 |
| 104 | Short stature-advanced bone age-early-onset osteoarthritis syndrome | Enrichment | ACAN | 2.07 |
| 105 | Familial benign flecked retina | Enrichment | PLA2G5 | 2.07 |
| 106 | Lung oat cell carcinoma | Enrichment | RB1 | 2.07 |
| 107 | Heart, malformation of | Enrichment | COL2A1, MAPK1 | 2.00 |
| 108 | Ovarian cancer | Enrichment | CDKN1B, EGFR, RB1, TP53 | 1.97 |
| 109 | Arteriovenous malformations of the brain | Enrichment | EGFR, IL6 | 1.96 |
| 110 | Burkitt lymphoma | Enrichment | MYC | 1.77 |
| 111 | Wagner vitreoretinopathy | Enrichment | VCAN | 1.77 |
| 112 | Campomelic dysplasia | Enrichment | SOX9 | 1.77 |
| 113 | Adrenocortical carcinoma, hereditary | Enrichment | TP53 | 1.77 |
| 114 | Camurati-engelmann disease 1 | Enrichment | TGFB1 | 1.77 |
| 115 | Spondyloepimetaphyseal dysplasia, strudwick type | Enrichment | COL2A1 | 1.77 |
| 116 | Alexander disease | Enrichment | GFAP | 1.77 |
| 117 | Spondylometaphyseal dysplasia, corner fracture type | Enrichment | COL2A1 | 1.77 |
| 118 | Argininemia | Enrichment | ARG1 | 1.77 |
| 119 | Otospondylomegaepiphyseal dysplasia, autosomal recessive | Enrichment | COL2A1 | 1.77 |
| 120 | Cervical cancer | Enrichment | TP53 | 1.77 |
| 121 | Legg-calve-perthes disease | Enrichment | COL2A1 | 1.77 |
| 122 | Hallermann-streiff syndrome | Enrichment | GJA1 | 1.77 |
| 123 | Lathosterolosis | Enrichment | C5 | 1.77 |
| 124 | Chromosome 13q14 deletion syndrome | Enrichment | RB1 | 1.77 |
| 125 | Otospondylomegaepiphyseal dysplasia, autosomal dominant | Enrichment | COL2A1 | 1.77 |
| 126 | Lymphoma, hodgkin, classic | Enrichment | TP53 | 1.77 |
| 127 | Spinocerebellar ataxia 23 | Enrichment | PDYN | 1.77 |
| 128 | Syndactyly, type iii | Enrichment | GJA1 | 1.77 |
| 129 | Syndactyly, type v | Enrichment | GJA1 | 1.77 |
| 130 | Multiple endocrine neoplasia, type iv | Enrichment | CDKN1B | 1.77 |
| 131 | Albinism, oculocutaneous, type ia | Enrichment | NOX4 | 1.77 |
| 132 | Spastic paraplegia, intellectual disability, nystagmus, and obesity | Enrichment | GFAP | 1.77 |
| 133 | Intellectual developmental disorder, autosomal dominant 48 | Enrichment | RAC1 | 1.77 |
| 134 | Dystonia 30 | Enrichment | PTPRA | 1.77 |
| 135 | Inflammatory bowel disease, immunodeficiency, and encephalopathy | Enrichment | TGFB1 | 1.77 |
| 136 | Immunodeficiency 127 | Enrichment | TNF | 1.77 |
| 137 | Craniometaphyseal dysplasia | Enrichment | GJA1 | 1.77 |
| 138 | Bilateral generalized polymicrogyria | Enrichment | GRIN1 | 1.77 |
| 139 | Delayed puberty, self-limited | Enrichment | SEMA6A | 1.77 |
| 140 | Cataract 30 | Enrichment | VIM | 1.77 |
| 141 | Camurati-engelmann disease | Enrichment | TGFB1 | 1.77 |
| 142 | Congenital fibrosarcoma | Enrichment | TP53 | 1.77 |
| 143 | Metaphyseal anadysplasia 2 | Enrichment | MMP9 | 1.77 |
| 144 | Li-fraumeni syndrome 1 | Enrichment | TP53 | 1.77 |
| 145 | Sarcoma | Enrichment | TP53 | 1.77 |
| 146 | Familial avascular necrosis of the femoral head | Enrichment | COL2A1 | 1.77 |
| 147 | Cervix carcinoma | Enrichment | TP53 | 1.77 |
| 148 | Immune system disease | Enrichment | CDC42 | 1.77 |
| 149 | Hodgkin's lymphoma | Enrichment | TP53 | 1.77 |
| 150 | Metaphyseal anadysplasia | Enrichment | MMP9 | 1.77 |
| 151 | Wagner disease | Enrichment | VCAN | 1.77 |
| 152 | Familial retinoblastoma | Enrichment | RB1 | 1.77 |
| 153 | Pleomorphic rhabdomyosarcoma | Enrichment | TP53 | 1.77 |
| 154 | Infantile osteopetrosis with neuroaxonal dysplasia | Enrichment | PLA2G6 | 1.77 |
| 155 | Campomelic dysplasia and related disorders | Enrichment | SOX9 | 1.77 |
| 156 | Scoliosis | Enrichment | COL2A1, GFAP | 1.76 |
| 157 | Mccune-albright syndrome | Enrichment | COL2A1 | 1.60 |
| 158 | Retinal arteries, tortuosity of | Enrichment | COL4A1 | 1.60 |
| 159 | Retinoblastoma | Enrichment | RB1 | 1.60 |
| 160 | Spondyloepiphyseal dysplasia congenita | Enrichment | COL2A1 | 1.60 |
| 161 | Tuberous sclerosis 1 | Enrichment | IFNG | 1.60 |
| 162 | 46,xx sex reversal 1 | Enrichment | SOX9 | 1.60 |
| 163 | Late-onset retinal degeneration | Enrichment | PLA2G5 | 1.60 |
| 164 | Psoriatic arthritis | Enrichment | TNF | 1.60 |
| 165 | C1q deficiency 1 | Enrichment | C1QB | 1.60 |
| 166 | Hepatitis c virus | Enrichment | IFNG | 1.60 |
| 167 | Nasopharyngeal carcinoma | Enrichment | TP53 | 1.60 |
| 168 | Tuberous sclerosis 2 | Enrichment | IFNG | 1.60 |
| 169 | Woolly hair, autosomal recessive 3 | Enrichment | RB1 | 1.60 |
| 170 | Neonatal nephrocutaneous inflammatory syndrome | Enrichment | EGFR | 1.60 |
| 171 | Microangiopathy and leukoencephalopathy, pontine, autosomal dominant | Enrichment | COL4A1 | 1.60 |
| 172 | Hypotrichosis 8 | Enrichment | RB1 | 1.60 |
| 173 | High-grade b-cell lymphoma double-hit/triple-hit | Enrichment | MYC | 1.60 |
| 174 | Dedifferentiated liposarcoma | Enrichment | CDK4 | 1.60 |
| 175 | Desbuquois dysplasia 2 | Enrichment | XYLT1 | 1.60 |
| 176 | Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps | Enrichment | COL4A1 | 1.60 |
| 177 | Atypical teratoid rhabdoid tumor | Enrichment | TP53 | 1.60 |
| 178 | Anaplastic astrocytoma | Enrichment | TP53 | 1.60 |
| 179 | Adenocarcinoma | Enrichment | TP53 | 1.60 |
| 180 | Migraine without aura | Enrichment | TNF | 1.60 |
| 181 | Neonatal inflammatory skin and bowel disease | Enrichment | EGFR | 1.60 |
| 182 | Well-differentiated liposarcoma | Enrichment | CDK4 | 1.60 |
| 183 | Multiple epiphyseal dysplasia | Enrichment | COL2A1 | 1.60 |
| 184 | Connective tissue disease | Enrichment | COL2A1, SOX9 | 1.52 |
| 185 | Kaposi sarcoma | Enrichment | IL6 | 1.48 |
| 186 | Mirror movements 1 | Enrichment | NTN1 | 1.48 |
| 187 | Brain small vessel disease 1 with or without ocular anomalies | Enrichment | COL4A1 | 1.48 |
| 188 | Schizencephaly | Enrichment | COL4A1 | 1.48 |
| 189 | Thyroid cancer, nonmedullary, 1 | Enrichment | TP53 | 1.48 |
| 190 | Amyotrophy, monomelic | Enrichment | SLIT1 | 1.48 |
| 191 | Chromosome 22q11.2 deletion syndrome, distal | Enrichment | MAPK1 | 1.48 |
| 192 | Cholangiocarcinoma | Enrichment | ROS1 | 1.48 |
| 193 | Leptin deficiency or dysfunction | Enrichment | LEP | 1.48 |
| 194 | Lynch syndrome 4 | Enrichment | RB1 | 1.48 |
| 195 | Congenital generalized lipodystrophy | Enrichment | FOS | 1.48 |
| 196 | Mantle cell lymphoma | Enrichment | CCND1 | 1.48 |
| 197 | Lung sarcomatoid carcinoma | Enrichment | TP53 | 1.48 |
| 198 | Embryonal rhabdomyosarcoma | Enrichment | TP53 | 1.48 |
| 199 | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | Enrichment | CDC42 | 1.48 |
| 200 | Idiopathic achalasia | Enrichment | NOS1 | 1.48 |
| 201 | Primary hyperparathyroidism | Enrichment | CDKN1B | 1.48 |
| 202 | Cakut | Enrichment | COL4A1, SLIT2 | 1.47 |
| 203 | Retinal detachment | Enrichment | COL2A1 | 1.38 |
| 204 | Von hippel-lindau syndrome | Enrichment | CCND1 | 1.38 |
| 205 | Rhabdomyosarcoma 2 | Enrichment | TP53 | 1.38 |
| 206 | Lymphoma | Enrichment | TP53 | 1.38 |
| 207 | Nonsyndromic 46,xx testicular disorders/differences of sex development | Enrichment | SOX9 | 1.38 |
| 208 | Vascular dementia | Enrichment | TNF | 1.38 |
| 209 | Acute megakaryocytic leukemia | Enrichment | TP53 | 1.38 |
| 210 | Cleft upper lip | Enrichment | GJA1 | 1.38 |
| 211 | Idiopathic aplastic anemia | Enrichment | IFNG | 1.38 |
| 212 | Familial porencephaly | Enrichment | COL4A1 | 1.38 |
| 213 | Systemic lupus erythematosus | Enrichment | FCGR2A, TNF | 1.37 |
| 214 | Spondyloepiphyseal dysplasia with congenital joint dislocations | Enrichment | ACAN | 1.30 |
| 215 | Developmental dysplasia of the hip 1 | Enrichment | COL2A1 | 1.30 |
| 216 | Li-fraumeni syndrome | Enrichment | TP53 | 1.30 |
| 217 | Cowden syndrome 1 | Enrichment | EGFR | 1.30 |
| 218 | Desbuquois dysplasia 1 | Enrichment | XYLT1 | 1.30 |
| 219 | Hemihyperplasia, isolated | Enrichment | RHOA | 1.30 |
| 220 | Wilms tumor, aniridia, genitourinary anomalies, and impaired intellectual development syndrome | Enrichment | BDNF | 1.30 |
| 221 | Pierre robin syndrome | Enrichment | SOX9 | 1.30 |
| 222 | Metachromatic leukodystrophy | Enrichment | GFAP | 1.30 |
| 223 | Type 1 diabetes mellitus | Enrichment | IL6 | 1.30 |
| 224 | Pseudoxanthoma elasticum | Enrichment | XYLT1 | 1.30 |
| 225 | Anterior segment dysgenesis 5 | Enrichment | COL4A1 | 1.30 |
| 226 | Inflammatory bowel disease 25, autosomal recessive | Enrichment | TGFB1 | 1.30 |
| 227 | Hemorrhage, intracerebral | Enrichment | COL4A1 | 1.30 |
| 228 | Keratoconus | Enrichment | COL4A1 | 1.30 |
| 229 | Adrenocortical carcinoma | Enrichment | TP53 | 1.30 |
| 230 | Il10-related early-onset inflammatory bowel disease | Enrichment | TGFB1 | 1.30 |
| 231 | Breast adenocarcinoma | Enrichment | TP53 | 1.30 |
| 232 | Lung squamous cell carcinoma | Enrichment | EGFR | 1.30 |
| 233 | Esophageal cancer | Enrichment | TP53 | 1.24 |
| 234 | Multiple endocrine neoplasia, type i | Enrichment | CDKN1B | 1.24 |
| 235 | Multiple enchondromatosis, maffucci type | Enrichment | COL2A1 | 1.24 |
| 236 | Essential thrombocythemia | Enrichment | TP53 | 1.24 |
| 237 | Gallbladder cancer | Enrichment | TP53 | 1.24 |
| 238 | Immunodeficiency due to a late component of complement deficiency | Enrichment | C5 | 1.24 |
| 239 | B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) | Enrichment | TP53 | 1.24 |
| 240 | Glioma susceptibility 1 | Enrichment | TP53 | 1.18 |
| 241 | Erythrokeratodermia variabilis et progressiva 1 | Enrichment | GJA1 | 1.18 |
| 242 | Lymphoma, non-hodgkin, familial | Enrichment | TP53 | 1.18 |
| 243 | Hypoplastic left heart syndrome | Enrichment | GJA1 | 1.18 |
| 244 | Immunodeficiency due to a classical component pathway complement deficiency | Enrichment | C1QB | 1.18 |
| 245 | Autosomal dominant non-syndromic intellectual disability | Enrichment | GRIN1, PPP3CA | 1.17 |
| 246 | Inflammatory bowel disease 1 | Enrichment | IL6 | 1.13 |
| 247 | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | Enrichment | RAC1 | 1.13 |
| 248 | Adult hepatocellular carcinoma | Enrichment | TP53 | 1.13 |
| 249 | Primary hyperaldosteronism | Enrichment | TP53 | 1.13 |
| 250 | Cataract 30, multiple types | Enrichment | VIM | 1.09 |
| 251 | Marfan syndrome | Enrichment | COL2A1 | 1.09 |
| 252 | Peters-plus syndrome | Enrichment | COL4A1 | 1.09 |
| 253 | Aplastic anemia | Enrichment | IFNG | 1.09 |
| 254 | Neurodegeneration with brain iron accumulation | Enrichment | PLA2G6 | 1.09 |
| 255 | Myeloma, multiple | Enrichment | CCND1, TP53 | 1.09 |
| 256 | Microcephaly | Enrichment | COL4A1, MAPK1, PLA2G6 | 1.06 |
| 257 | Asthma | Enrichment | TNF | 1.05 |
| 258 | Myelodysplastic syndrome | Enrichment | TP53 | 1.05 |
| 259 | 46,xy complete gonadal dysgenesis | Enrichment | SOX9 | 1.05 |
| 260 | Lung non-small cell carcinoma | Enrichment | EGFR | 1.05 |
| 261 | Specific learning disability | Enrichment | MAPK1 | 1.05 |
| 262 | Alzheimer's disease | Enrichment | TNF | 0.98 |
| 263 | Walker-warburg syndrome | Enrichment | COL4A1 | 0.95 |
| 264 | 46,xy partial gonadal dysgenesis | Enrichment | SOX9 | 0.95 |
| 265 | Corpus callosum, agenesis of | Enrichment | COL4A1 | 0.92 |
| 266 | Myopia | Enrichment | COL2A1 | 0.92 |
| 267 | Anterior segment dysgenesis | Enrichment | COL4A1 | 0.92 |
| 268 | Isolated corpus callosum agenesis | Enrichment | COL4A1 | 0.92 |
| 269 | Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome | Enrichment | COL4A1 | 0.92 |
| 270 | Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay | Enrichment | PLA2G6 | 0.89 |
| 271 | Rhabdomyosarcoma | Enrichment | TP53 | 0.89 |
| 272 | Breast cancer | Enrichment | IL2, TP53 | 0.88 |
| 273 | Melanoma, cutaneous malignant 1 | Enrichment | CDK4 | 0.87 |
| 274 | Early infantile developmental and epileptic encephalopathy | Enrichment | GRIN1 | 0.85 |
| 275 | Behcet syndrome | Enrichment | TLR4 | 0.83 |
| 276 | Diffuse large b-cell lymphoma | Enrichment | TP53 | 0.83 |
| 277 | Hepatoblastoma | Enrichment | TP53 | 0.79 |
| 278 | Hepatocellular carcinoma | Enrichment | TP53 | 0.77 |
| 279 | Diamond-blackfan anemia 1 | Enrichment | TP53 | 0.75 |
| 280 | Precursor t-cell acute lymphoblastic leukemia | Enrichment | MYC | 0.75 |
| 281 | Pancreatic cancer | Enrichment | TP53 | 0.72 |
| 282 | Developmental and epileptic encephalopathy 1 | Enrichment | GRIN1 | 0.72 |
| 283 | Hirschsprung disease 1 | Enrichment | GDNF | 0.66 |
| 284 | Prostate cancer | Enrichment | TP53 | 0.66 |
| 285 | Stargardt disease 1 | Enrichment | COL2A1 | 0.65 |
| 286 | Lung cancer | Enrichment | EGFR | 0.62 |
| 287 | Diamond-blackfan anemia | Enrichment | TP53 | 0.58 |
| 288 | Cerebral palsy | Enrichment | COL4A1 | 0.55 |
| 289 | Leukemia, acute myeloid | Enrichment | TP53 | 0.54 |
| 290 | Benign epilepsy with centrotemporal spikes | Enrichment | GRIN1 | 0.53 |
| 291 | Type 2 diabetes mellitus | Enrichment | IL6 | 0.52 |
| 292 | Centralopathic epilepsy | Enrichment | GRIN1 | 0.51 |
| 293 | West syndrome | Enrichment | GRIN1 | 0.50 |
| 294 | Hereditary breast carcinoma | Enrichment | TP53 | 0.50 |
| 295 | Body mass index quantitative trait locus 11 | Enrichment | BDNF | 0.46 |
| 296 | Spastic ataxia | Enrichment | PLA2G6 | 0.44 |
| 297 | Hereditary breast ovarian cancer syndrome | Enrichment | TP53 | 0.43 |
| 298 | Undetermined early-onset epileptic encephalopathy | Enrichment | PPP3CA | 0.42 |
| 299 | Autosomal recessive non-syndromic intellectual disability | Enrichment | GRIN1 | 0.41 |
| 300 | Schizophrenia | Enrichment | RTN4R | 0.40 |
| 301 | Rare autosomal recessive non-syndromic sensorineural deafness type dfnb | Enrichment | GJA1 | 0.27 |
| 302 | Congenital nervous system abnormality | Enrichment | PLA2G6 | 0.22 |
| 303 | Nervous system disease | Enrichment | PLA2G6 | 0.22 |
| 304 | Hereditary retinal dystrophy | Enrichment | COL2A1, VCAN | 0.15 |
| 305 | Fundus dystrophy | Enrichment | COL2A1, VCAN | 0.15 |