| 1 | Renal cell carcinoma with mit translocations | Enrichment | PRCC, SFPQ, TFE3, TFEB | 8.93 |
| 2 | Erythrocytosis, familial, 3 | Enrichment | EGLN1, EPAS1 | 5.21 |
| 3 | Loeys-dietz syndrome 4 | Enrichment | TGFB2, TGFB3 | 5.21 |
| 4 | Rubinstein-taybi syndrome 1 | Enrichment | CREBBP, EP300 | 4.04 |
| 5 | Chromosome 16p13.3 deletion syndrome, proximal | Enrichment | CREBBP, EP300 | 4.04 |
| 6 | Autosomal dominant secondary polycythemia | Enrichment | EGLN1, EPAS1 | 4.04 |
| 7 | Sporadic pheochromocytoma/secreting paraganglioma | Enrichment | EPAS1, VHL | 4.04 |
| 8 | Renal cell carcinoma, papillary, 1 | Enrichment | PRCC, VHL | 3.90 |
| 9 | Multiple enchondromatosis, maffucci type | Enrichment | HIF1A, VHL | 3.90 |
| 10 | Loeys-dietz syndrome | Enrichment | TGFB2, TGFB3 | 3.66 |
| 11 | Renal cell carcinoma, nonpapillary | Enrichment | SETD2, VHL | 3.20 |
| 12 | Corpus callosum, agenesis of | Enrichment | CREBBP, SETD2 | 3.20 |
| 13 | Isolated corpus callosum agenesis | Enrichment | CREBBP, SETD2 | 3.20 |
| 14 | Rare genetic intellectual disability | Enrichment | CREBBP, EP300 | 3.20 |
| 15 | Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome | Enrichment | CREBBP, SETD2 | 3.20 |
| 16 | Hereditary paraganglioma-pheochromocytoma syndromes | Enrichment | FH, VHL | 2.91 |
| 17 | Scoliosis | Enrichment | CREBBP, CTSK | 2.79 |
| 18 | Hereditary leiomyomatosis and renal cell cancer | Enrichment | FH | 2.60 |
| 19 | Pycnodysostosis | Enrichment | CTSK | 2.60 |
| 20 | Fumarase deficiency | Enrichment | FH | 2.60 |
| 21 | Stomatin-deficient cryohydrocytosis with neurologic defects | Enrichment | SLC2A1 | 2.60 |
| 22 | Basal ganglia calcification, idiopathic, 5 | Enrichment | PDGFB | 2.60 |
| 23 | Deafness, autosomal dominant 1, with or without thrombocytopenia | Enrichment | DIAPH1 | 2.60 |
| 24 | Intellectual developmental disorder, autosomal dominant 70 | Enrichment | SETD2 | 2.60 |
| 25 | Renal cell carcinoma, xp11-associated | Enrichment | TFE3 | 2.60 |
| 26 | Intellectual developmental disorder, x-linked, syndromic, with pigmentary mosaicism and coarse facies | Enrichment | TFE3 | 2.60 |
| 27 | Hemoglobin, high altitude adaptation | Enrichment | EGLN1 | 2.60 |
| 28 | Microvascular complications of diabetes 1 | Enrichment | VEGFA | 2.60 |
| 29 | Leiomyoma cutis | Enrichment | FH | 2.60 |
| 30 | Camurati-engelmann disease 2 | Enrichment | TGFB2 | 2.60 |
| 31 | Erythrocytosis, familial, 4 | Enrichment | EPAS1 | 2.60 |
| 32 | Epilepsy, idiopathic generalized 12 | Enrichment | SLC2A1 | 2.60 |
| 33 | Webb-dattani syndrome | Enrichment | ARNT2 | 2.60 |
| 34 | Loeys-dietz syndrome 5 | Enrichment | TGFB3 | 2.60 |
| 35 | Fumarate hydratase deficiency | Enrichment | FH | 2.60 |
| 36 | Seizures, cortical blindness, and microcephaly syndrome | Enrichment | DIAPH1 | 2.60 |
| 37 | Diaph1-related sensorineural hearing loss-thrombocytopenia syndrome | Enrichment | DIAPH1 | 2.60 |
| 38 | Menke-hennekam syndrome 1 | Enrichment | CREBBP | 2.60 |
| 39 | Luscan-lumish syndrome | Enrichment | SETD2 | 2.60 |
| 40 | Rabin-pappas syndrome | Enrichment | SETD2 | 2.60 |
| 41 | Rubinstein-taybi syndrome due to 16p13.3 microdeletion | Enrichment | CREBBP | 2.60 |
| 42 | Multiple paragangliomas associated with polycythemia | Enrichment | EPAS1 | 2.60 |
| 43 | Epilepsy with myoclonic absences | Enrichment | SLC2A1 | 2.60 |
| 44 | Menke-hennekam syndrome | Enrichment | CREBBP | 2.60 |
| 45 | Hereditary cryohydrocytosis with reduced stomatin | Enrichment | SLC2A1 | 2.60 |
| 46 | Retinal hemangioblastoma | Enrichment | VHL | 2.60 |
| 47 | Microcephaly | Enrichment | DIAPH1, EP300, SLC2A1 | 2.45 |
| 48 | Epilepsy | Enrichment | DIAPH1, SLC2A1 | 2.35 |
| 49 | Leiomyoma, uterine | Enrichment | FH | 2.30 |
| 50 | Camurati-engelmann disease 1 | Enrichment | TGFB1 | 2.30 |
| 51 | Thumb deformity | Enrichment | CREBBP | 2.30 |
| 52 | Dystonia 9 | Enrichment | SLC2A1 | 2.30 |
| 53 | Dermatofibrosarcoma protuberans | Enrichment | PDGFB | 2.30 |
| 54 | Alveolar soft part sarcoma | Enrichment | TFE3 | 2.30 |
| 55 | Glut1 deficiency syndrome 1 | Enrichment | SLC2A1 | 2.30 |
| 56 | Menke-hennekam syndrome 2 | Enrichment | EP300 | 2.30 |
| 57 | Inflammatory bowel disease, immunodeficiency, and encephalopathy | Enrichment | TGFB1 | 2.30 |
| 58 | Glucose transporter type 1 deficiency syndrome | Enrichment | SLC2A1 | 2.30 |
| 59 | Acute myeloid leukemia with kat6a-crebbp fusion | Enrichment | CREBBP | 2.30 |
| 60 | Camurati-engelmann disease | Enrichment | TGFB1 | 2.30 |
| 61 | Spinocerebellar ataxia 45 | Enrichment | FH | 2.30 |
| 62 | Acute leukemia of ambiguous lineage | Enrichment | VHL | 2.30 |
| 63 | Familial thoracic aortic aneurysm and aortic dissection | Enrichment | TGFB2, TGFB3 | 2.27 |
| 64 | Myasthenic syndrome, congenital, 6, presynaptic | Enrichment | VHL | 2.12 |
| 65 | Glut1 deficiency syndrome 2 | Enrichment | SLC2A1 | 2.12 |
| 66 | Primary polycythemia | Enrichment | VHL | 2.12 |
| 67 | Tethered spinal cord syndrome | Enrichment | CREBBP | 2.12 |
| 68 | Nail disorder, nonsyndromic congenital, 9 | Enrichment | CTSK | 2.12 |
| 69 | Chromosome 17q23.1-q23.2 deletion syndrome | Enrichment | SLC2A1 | 2.12 |
| 70 | Intraocular pressure quantitative trait locus | Enrichment | CREBBP | 2.12 |
| 71 | Renal cell carcinoma | Enrichment | TFE3 | 2.12 |
| 72 | Enchondromatosis | Enrichment | HIF1A | 2.12 |
| 73 | Acyl-coa dehydrogenase, very long-chain, deficiency of | Enrichment | DVL2 | 2.00 |
| 74 | Erythrocytosis, familial, 2 | Enrichment | VHL | 2.00 |
| 75 | Au-kline syndrome | Enrichment | VHL | 2.00 |
| 76 | Malignant epithelioid hemangioendothelioma | Enrichment | TFE3 | 2.00 |
| 77 | Enchondromatosis, multiple, ollier type | Enrichment | HIF1A | 1.90 |
| 78 | Arrhythmogenic right ventricular dysplasia, familial, 1 | Enrichment | TGFB3 | 1.90 |
| 79 | Fanconi anemia, complementation group d2 | Enrichment | VHL | 1.90 |
| 80 | Von hippel-lindau syndrome | Enrichment | VHL | 1.90 |
| 81 | Rubinstein-taybi syndrome 2 | Enrichment | EP300 | 1.90 |
| 82 | Arrhythmogenic right ventricular dysplasia 1 | Enrichment | TGFB3 | 1.90 |
| 83 | Atrial septal defect 1 | Enrichment | TGFB2 | 1.83 |
| 84 | Moyamoya disease 1 | Enrichment | DIAPH1 | 1.83 |
| 85 | Pendred syndrome | Enrichment | DIAPH1 | 1.83 |
| 86 | Inflammatory bowel disease 25, autosomal recessive | Enrichment | TGFB1 | 1.83 |
| 87 | Il10-related early-onset inflammatory bowel disease | Enrichment | TGFB1 | 1.83 |
| 88 | Hypertrichosis | Enrichment | CREBBP | 1.83 |
| 89 | Multiple endocrine neoplasia, type i | Enrichment | CDKN1A | 1.76 |
| 90 | Paroxysmal dystonia | Enrichment | SLC2A1 | 1.76 |
| 91 | Basal ganglia calcification, idiopathic, 1 | Enrichment | PDGFB | 1.70 |
| 92 | Alternating hemiplegia of childhood | Enrichment | SLC2A1 | 1.70 |
| 93 | Charge syndrome | Enrichment | EP300 | 1.65 |
| 94 | Myoclonic-atonic epilepsy | Enrichment | SLC2A1 | 1.65 |
| 95 | Marfan syndrome | Enrichment | TGFB2 | 1.61 |
| 96 | Primary bone dysplasia | Enrichment | CTSK | 1.61 |
| 97 | Meningioma, familial | Enrichment | PDGFB | 1.56 |
| 98 | Osteochondrodysplasia | Enrichment | CTSK | 1.56 |
| 99 | Septooptic dysplasia | Enrichment | ARNT2 | 1.53 |
| 100 | Meningioma | Enrichment | PDGFB | 1.53 |
| 101 | Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant | Enrichment | TGFB3 | 1.53 |
| 102 | Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant | Enrichment | TGFB3 | 1.53 |
| 103 | Pheochromocytoma | Enrichment | VHL | 1.46 |
| 104 | Heart disease | Enrichment | CREBBP | 1.46 |
| 105 | Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant | Enrichment | TGFB3 | 1.46 |
| 106 | Polydactyly, postaxial, type a1 | Enrichment | EP300 | 1.43 |
| 107 | Hydrocephalus, congenital, 1 | Enrichment | SETD2 | 1.40 |
| 108 | Dandy-walker syndrome | Enrichment | SETD2 | 1.38 |
| 109 | Inherited cancer-predisposing syndrome | Enrichment | FH, VHL | 1.37 |
| 110 | Diffuse large b-cell lymphoma | Enrichment | CREBBP | 1.33 |
| 111 | Ehlers-danlos syndrome | Enrichment | TGFB2 | 1.33 |
| 112 | Hepatocellular carcinoma | Enrichment | FH | 1.27 |
| 113 | Tooth agenesis | Enrichment | TGFA | 1.27 |
| 114 | Developmental and epileptic encephalopathy 1 | Enrichment | SLC2A1 | 1.22 |
| 115 | Auditory neuropathy | Enrichment | DIAPH1 | 1.20 |
| 116 | Strabismus | Enrichment | SLC2A1 | 1.18 |
| 117 | Bladder cancer | Enrichment | CDKN1A | 1.15 |
| 118 | Cystic fibrosis | Enrichment | TGFB1 | 1.11 |
| 119 | Fanconi anemia, complementation group a | Enrichment | VHL | 1.07 |
| 120 | Benign epilepsy with centrotemporal spikes | Enrichment | SLC2A1 | 1.01 |
| 121 | Centralopathic epilepsy | Enrichment | SLC2A1 | 0.99 |
| 122 | West syndrome | Enrichment | SLC2A1 | 0.98 |
| 123 | Myeloma, multiple | Enrichment | CREBBP | 0.88 |
| 124 | Autism | Enrichment | CREBBP | 0.78 |
| 125 | Rare genetic deafness | Enrichment | DIAPH1 | 0.74 |
| 126 | Colorectal cancer | Enrichment | EP300 | 0.71 |
| 127 | Ovarian cancer | Enrichment | FH | 0.65 |
| 128 | Congenital nervous system abnormality | Enrichment | CREBBP | 0.63 |
| 129 | Nervous system disease | Enrichment | CREBBP | 0.63 |
| 130 | Autism spectrum disorder | Enrichment | SETD2 | 0.62 |