| 1 | Loeys-dietz syndrome | Enrichment | SMAD2, SMAD3, TGFB2, TGFB3, TGFBR1 | 10.57 |
| 2 | Familial thoracic aortic aneurysm and aortic dissection | Enrichment | SMAD2, SMAD3, TGFB2, TGFB3, TGFBR1 | 7.13 |
| 3 | Tetralogy of fallot | Enrichment | EPHB4, FLT4, JAG1, KDR | 6.33 |
| 4 | Lymphatic malformation 1 | Enrichment | EPHB4, FLT4 | 5.21 |
| 5 | Intracranial hypertension, idiopathic | Enrichment | EPHB4, FLT4 | 5.21 |
| 6 | Loeys-dietz syndrome 4 | Enrichment | TGFB2, TGFB3 | 5.21 |
| 7 | Hereditary lymphedema i | Enrichment | EPHB4, FLT4 | 5.21 |
| 8 | Loeys-dietz syndrome 1 | Enrichment | SMAD2, TGFBR1 | 4.74 |
| 9 | Aortic aneurysm | Enrichment | SMAD3, TGFBR1 | 4.44 |
| 10 | Testicular germ cell tumor | Enrichment | KIT, KITLG | 4.04 |
| 11 | Hemangioma, capillary infantile | Enrichment | FLT4, KDR | 4.04 |
| 12 | Common variable immunodeficiency | Enrichment | NFKB1, NFKB2 | 3.90 |
| 13 | Marfan syndrome | Enrichment | TGFB2, TGFBR1 | 3.57 |
| 14 | Heritable pulmonary arterial hypertension | Enrichment | ACVRL1, SMAD9 | 3.48 |
| 15 | Meningioma | Enrichment | AKT1, PDGFB | 3.40 |
| 16 | Heart, malformation of | Enrichment | JAG1, MAPK1 | 3.04 |
| 17 | Ehlers-danlos syndrome | Enrichment | SMAD3, TGFB2 | 2.99 |
| 18 | Hydrops fetalis, nonimmune | Enrichment | EPHB4, FLT4 | 2.72 |
| 19 | Lymphatic malformation 5 | Enrichment | EPHB4 | 2.60 |
| 20 | Proteus syndrome | Enrichment | AKT1 | 2.60 |
| 21 | Telangiectasia, hereditary hemorrhagic, type 2 | Enrichment | ACVRL1 | 2.60 |
| 22 | Mastocytosis, cutaneous | Enrichment | KIT | 2.60 |
| 23 | Basal ganglia calcification, idiopathic, 5 | Enrichment | PDGFB | 2.60 |
| 24 | Hyperpigmentation with or without hypopigmentation, familial progressive | Enrichment | KITLG | 2.60 |
| 25 | Lateral meningocele syndrome | Enrichment | NOTCH3 | 2.60 |
| 26 | Multiple self-healing squamous epithelioma | Enrichment | TGFBR1 | 2.60 |
| 27 | Whim syndrome 1 | Enrichment | CXCR4 | 2.60 |
| 28 | Angioedema, hereditary, 5 | Enrichment | ANGPT1 | 2.60 |
| 29 | Charcot-marie-tooth disease, axonal, type 2hh | Enrichment | JAG1 | 2.60 |
| 30 | Noonan syndrome 13 | Enrichment | MAPK1 | 2.60 |
| 31 | Adams-oliver syndrome 6 | Enrichment | DLL4 | 2.60 |
| 32 | Immunodeficiency 92 | Enrichment | REL | 2.60 |
| 33 | Prostate cancer/brain cancer susceptibility | Enrichment | EPHB2 | 2.60 |
| 34 | Skin/hair/eye pigmentation, variation in, 7 | Enrichment | KITLG | 2.60 |
| 35 | Camurati-engelmann disease 2 | Enrichment | TGFB2 | 2.60 |
| 36 | Cowden syndrome 6 | Enrichment | AKT1 | 2.60 |
| 37 | Pulmonary hypertension, primary, 2 | Enrichment | SMAD9 | 2.60 |
| 38 | Myofibromatosis, infantile, 2 | Enrichment | NOTCH3 | 2.60 |
| 39 | Loeys-dietz syndrome 6 | Enrichment | SMAD2 | 2.60 |
| 40 | Congenital heart defects, multiple types, 7 | Enrichment | FLT4 | 2.60 |
| 41 | Loeys-dietz syndrome 5 | Enrichment | TGFB3 | 2.60 |
| 42 | Bleeding disorder, platelet-type, 22 | Enrichment | EPHB2 | 2.60 |
| 43 | Deficiency in anterior pituitary function - variable immunodeficiency syndrome | Enrichment | NFKB2 | 2.60 |
| 44 | Immunodeficiency 53 | Enrichment | RELB | 2.60 |
| 45 | Deafness, congenital heart defects, and posterior embryotoxon | Enrichment | JAG1 | 2.60 |
| 46 | Chronic mast cell leukemia | Enrichment | KIT | 2.60 |
| 47 | Telangiectasis | Enrichment | ACVRL1 | 2.60 |
| 48 | Tufted angioma of skin | Enrichment | KDR | 2.60 |
| 49 | Deafness, autosomal dominant 69 | Enrichment | KITLG | 2.60 |
| 50 | Congenital heart defects, multiple types, 8, with or without heterotaxy | Enrichment | SMAD2 | 2.60 |
| 51 | Transient cerebral ischemia | Enrichment | NOTCH3 | 2.60 |
| 52 | Isolated bone marrow mastocytosis | Enrichment | KIT | 2.60 |
| 53 | Smoldering systemic mastocytosis | Enrichment | KIT | 2.60 |
| 54 | Cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 1 | Enrichment | NOTCH3 | 2.60 |
| 55 | Mastocytosis | Enrichment | KIT | 2.60 |
| 56 | Familial progressive hyperpigmentation | Enrichment | KITLG | 2.60 |
| 57 | Cutaneous mastocytoma | Enrichment | KIT | 2.60 |
| 58 | Typical urticaria pigmentosa | Enrichment | KIT | 2.60 |
| 59 | Nodular urticaria pigmentosa | Enrichment | KIT | 2.60 |
| 60 | Pseudoxanthomatous diffuse cutaneous mastocytosis | Enrichment | KIT | 2.60 |
| 61 | Telangiectasia macularis eruptiva perstans | Enrichment | KIT | 2.60 |
| 62 | Acute mast cell leukemia | Enrichment | KIT | 2.60 |
| 63 | Familial progressive hyper- and hypopigmentation | Enrichment | KITLG | 2.60 |
| 64 | Plaque-form urticaria pigmentosa | Enrichment | KIT | 2.60 |
| 65 | Ephb4-related lymphatic-related hydrops fetalis | Enrichment | EPHB4 | 2.60 |
| 66 | Bullous diffuse cutaneous mastocytosis | Enrichment | KIT | 2.60 |
| 67 | Vein of galen aneurysmal malformation | Enrichment | EPHB4 | 2.60 |
| 68 | Testis seminoma | Enrichment | KIT | 2.60 |
| 69 | Non-immune hydrops fetalis | Enrichment | EPHB4, FLT4 | 2.57 |
| 70 | Camurati-engelmann disease 1 | Enrichment | TGFB1 | 2.30 |
| 71 | Dermatofibrosarcoma protuberans | Enrichment | PDGFB | 2.30 |
| 72 | Loeys-dietz syndrome 2 | Enrichment | TGFBR1 | 2.30 |
| 73 | Piebald trait | Enrichment | KIT | 2.30 |
| 74 | Angioma, tufted | Enrichment | KDR | 2.30 |
| 75 | Immunodeficiency, common variable, 12, with autoimmunity | Enrichment | NFKB1 | 2.30 |
| 76 | Immunodeficiency, common variable, 10 | Enrichment | NFKB2 | 2.30 |
| 77 | Loeys-dietz syndrome 3 | Enrichment | SMAD3 | 2.30 |
| 78 | Waardenburg syndrome, type 2f | Enrichment | KITLG | 2.30 |
| 79 | Autoinflammatory disease, familial, behcet-like 3 | Enrichment | RELA | 2.30 |
| 80 | Inflammatory bowel disease, immunodeficiency, and encephalopathy | Enrichment | TGFB1 | 2.30 |
| 81 | Infantile myofibromatosis | Enrichment | NOTCH3 | 2.30 |
| 82 | Rela fusion-positive ependymoma | Enrichment | RELA | 2.30 |
| 83 | Lipodystrophy, familial partial, type 1 | Enrichment | NOTCH3 | 2.30 |
| 84 | Depressive disorder | Enrichment | NOTCH3 | 2.30 |
| 85 | Camurati-engelmann disease | Enrichment | TGFB1 | 2.30 |
| 86 | Metaphyseal anadysplasia 2 | Enrichment | MMP9 | 2.30 |
| 87 | Metaphyseal anadysplasia | Enrichment | MMP9 | 2.30 |
| 88 | B-lymphoblastic leukemia/lymphoma with t | Enrichment | KIT | 2.30 |
| 89 | Common variable immunodeficiency 12 | Enrichment | NFKB1 | 2.30 |
| 90 | Alagille syndrome 1 | Enrichment | JAG1 | 2.12 |
| 91 | Lymphatic malformation 7 | Enrichment | EPHB4 | 2.12 |
| 92 | Testicular germ cell cancer | Enrichment | KIT | 2.12 |
| 93 | Capillary malformation-arteriovenous malformation 2 | Enrichment | EPHB4 | 2.12 |
| 94 | Migraine without aura | Enrichment | NOTCH3 | 2.12 |
| 95 | Enchondromatosis | Enrichment | HIF1A | 2.12 |
| 96 | Pulmonary arterial hypertension associated with congenital heart disease | Enrichment | SMAD9 | 2.12 |
| 97 | Hemophilia a | Enrichment | ACVRL1 | 2.00 |
| 98 | Chromosome 22q11.2 deletion syndrome, distal | Enrichment | MAPK1 | 2.00 |
| 99 | Immunodeficiency, common variable, 1 | Enrichment | NFKB2 | 2.00 |
| 100 | Factor viii deficiency | Enrichment | ACVRL1 | 2.00 |
| 101 | Cerebrovascular disease | Enrichment | NOTCH3 | 2.00 |
| 102 | Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) | Enrichment | KIT | 2.00 |
| 103 | Systemic mastocytosis with associated hematologic neoplasm | Enrichment | KIT | 2.00 |
| 104 | Middle aortic syndrome | Enrichment | JAG1 | 2.00 |
| 105 | Hereditary angioedema with normal c1inh not related to f12 or plg variant | Enrichment | ANGPT1 | 2.00 |
| 106 | Enchondromatosis, multiple, ollier type | Enrichment | HIF1A | 1.90 |
| 107 | Arrhythmogenic right ventricular dysplasia, familial, 1 | Enrichment | TGFB3 | 1.90 |
| 108 | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | Enrichment | NOTCH3 | 1.90 |
| 109 | Acute myeloid leukemia with maturation | Enrichment | KIT | 1.90 |
| 110 | Arrhythmogenic right ventricular dysplasia 1 | Enrichment | TGFB3 | 1.90 |
| 111 | Aplasia cutis congenita | Enrichment | DLL4 | 1.90 |
| 112 | Vascular dementia | Enrichment | NOTCH3 | 1.90 |
| 113 | Acute myeloid leukemia with t(8;21)(q22;q22) translocation | Enrichment | KIT | 1.90 |
| 114 | Atrial septal defect 1 | Enrichment | TGFB2 | 1.83 |
| 115 | Telangiectasia, hereditary hemorrhagic, type 1 | Enrichment | ACVRL1 | 1.83 |
| 116 | Inflammatory bowel disease 25, autosomal recessive | Enrichment | TGFB1 | 1.83 |
| 117 | Il10-related early-onset inflammatory bowel disease | Enrichment | TGFB1 | 1.83 |
| 118 | Breast adenocarcinoma | Enrichment | AKT1 | 1.83 |
| 119 | Classic ehlers-danlos syndrome | Enrichment | TGFBR1 | 1.83 |
| 120 | Gastrointestinal stromal tumor | Enrichment | KIT | 1.76 |
| 121 | Waardenburg syndrome, type 2e | Enrichment | KITLG | 1.76 |
| 122 | Capillary malformation-arteriovenous malformation 1 | Enrichment | EPHB4 | 1.76 |
| 123 | Multiple enchondromatosis, maffucci type | Enrichment | HIF1A | 1.76 |
| 124 | Adams-oliver syndrome | Enrichment | DLL4 | 1.76 |
| 125 | Hereditary hemorrhagic telangiectasia | Enrichment | ACVRL1 | 1.76 |
| 126 | Basal ganglia calcification, idiopathic, 1 | Enrichment | PDGFB | 1.70 |
| 127 | Arteriovenous malformation | Enrichment | EPHB4 | 1.65 |
| 128 | Cowden syndrome | Enrichment | AKT1 | 1.65 |
| 129 | Familial thoracic aortic aneurysm and dissection | Enrichment | SMAD3 | 1.65 |
| 130 | Stroke, ischemic | Enrichment | NOTCH3 | 1.61 |
| 131 | Myopathy, x-linked, with excessive autophagy | Enrichment | EPHB4 | 1.61 |
| 132 | Ciliary dyskinesia, primary, 3 | Enrichment | NFKB1 | 1.61 |
| 133 | Ovarian cancer | Enrichment | AKT1, KIT | 1.58 |
| 134 | Migraine with or without aura 1 | Enrichment | NOTCH3 | 1.56 |
| 135 | Pectus excavatum | Enrichment | TGFBR1 | 1.56 |
| 136 | Meningioma, familial | Enrichment | PDGFB | 1.56 |
| 137 | Specific learning disability | Enrichment | MAPK1 | 1.56 |
| 138 | Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant | Enrichment | TGFB3 | 1.53 |
| 139 | Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant | Enrichment | TGFB3 | 1.53 |
| 140 | Lip and oral cavity carcinoma | Enrichment | KIT | 1.53 |
| 141 | Pulmonary hypertension, primary, 1 | Enrichment | ACVRL1 | 1.49 |
| 142 | Aortic aneurysm, familial thoracic 1 | Enrichment | SMAD3 | 1.46 |
| 143 | Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant | Enrichment | TGFB3 | 1.46 |
| 144 | Human immunodeficiency virus type 1 | Enrichment | CXCL12 | 1.35 |
| 145 | Hepatoblastoma | Enrichment | JAG1 | 1.29 |
| 146 | Auditory neuropathy | Enrichment | NOTCH3 | 1.20 |
| 147 | Prostate cancer | Enrichment | EPHB2 | 1.15 |
| 148 | Cystic fibrosis | Enrichment | TGFB1 | 1.11 |
| 149 | Connective tissue disease | Enrichment | SMAD3 | 1.11 |
| 150 | Leukemia, acute myeloid | Enrichment | KIT | 1.02 |
| 151 | Hereditary breast carcinoma | Enrichment | AKT1 | 0.98 |
| 152 | Thrombocytopenia | Enrichment | ACVRL1 | 0.94 |
| 153 | Rare autosomal dominant non-syndromic sensorineural deafness type dfna | Enrichment | KITLG | 0.91 |
| 154 | Primary ovarian insufficiency | Enrichment | KDR | 0.86 |
| 155 | Breast cancer | Enrichment | AKT1 | 0.76 |
| 156 | Colorectal cancer | Enrichment | AKT1 | 0.71 |
| 157 | Microcephaly | Enrichment | MAPK1 | 0.57 |
| 158 | Inherited cancer-predisposing syndrome | Enrichment | KIT | 0.55 |
| 159 | Hereditary retinal dystrophy | Enrichment | JAG1 | 0.28 |
| 160 | Fundus dystrophy | Enrichment | JAG1 | 0.28 |