| 1 | Renal agenesis, bilateral | Enrichment | EYA1, GFRA1, GREB1L, ITGA8, RET | 10.24 |
| 2 | Renal hypodysplasia/aplasia 3 | Enrichment | BMP4, FRAS1, FREM1, GREB1L, RET | 9.60 |
| 3 | Cakut | Enrichment | FOXC1, FRAS1, GREB1L, PAX2, SALL1, SLIT2 | 8.93 |
| 4 | Renal hypodysplasia/aplasia 1 | Enrichment | FRAS1, ITGA8, RET | 5.72 |
| 5 | Hirschsprung disease 1 | Enrichment | GDNF, GLI3, RET, SMO | 5.63 |
| 6 | Branchiootic syndrome | Enrichment | EYA1, SIX1 | 4.97 |
| 7 | Branchiootic syndrome 1 | Enrichment | EYA1, SIX1 | 4.97 |
| 8 | Postaxial polydactyly type b | Enrichment | GLI1, GLI3 | 4.97 |
| 9 | Renal hypoplasia, bilateral | Enrichment | PAX2, PBX1 | 4.97 |
| 10 | Focal segmental glomerulosclerosis | Enrichment | EYA1, PAX2, WT1 | 4.43 |
| 11 | Orofacial cleft | Enrichment | FST, GDF11 | 4.19 |
| 12 | Orofacial clefting syndrome | Enrichment | FST, GDF11 | 4.19 |
| 13 | Ventricular septal defect 1 | Enrichment | BMP2, BMP7 | 3.97 |
| 14 | Atrial septal defect 1 | Enrichment | BMP2, TGFB2 | 3.80 |
| 15 | Branchiootorenal syndrome 1 | Enrichment | EYA1, SIX1 | 3.80 |
| 16 | Branchiootorenal syndrome | Enrichment | EYA1, SIX1 | 3.65 |
| 17 | Congenital central hypoventilation syndrome | Enrichment | GDNF, RET | 3.42 |
| 18 | Peters-plus syndrome | Enrichment | BMP4, FOXC1 | 3.32 |
| 19 | Microphthalmia/coloboma 12 | Enrichment | PAX2, RARB | 3.09 |
| 20 | Diaphragmatic hernia, congenital | Enrichment | FRAS1, GLI3 | 3.09 |
| 21 | Coloboma of macula | Enrichment | PAX2, RARB | 2.96 |
| 22 | Polydactyly, postaxial, type a1 | Enrichment | GLI1, GLI3 | 2.96 |
| 23 | Wilms tumor 1 | Enrichment | GPC3, WT1 | 2.96 |
| 24 | Septopreoptic holoprosencephaly | Enrichment | GLI2, SHH | 2.96 |
| 25 | Midline interhemispheric variant of holoprosencephaly | Enrichment | GLI2, SHH | 2.96 |
| 26 | Microform holoprosencephaly | Enrichment | GLI2, SHH | 2.90 |
| 27 | Lobar holoprosencephaly | Enrichment | GLI2, SHH | 2.90 |
| 28 | Alobar holoprosencephaly | Enrichment | GLI2, SHH | 2.85 |
| 29 | Semilobar holoprosencephaly | Enrichment | GLI2, SHH | 2.80 |
| 30 | Craniosynostosis | Enrichment | GLI2, GLI3 | 2.71 |
| 31 | Holoprosencephaly 3 | Enrichment | SHH | 2.48 |
| 32 | Multiple endocrine neoplasia, type iib | Enrichment | RET | 2.48 |
| 33 | Pallister-hall syndrome | Enrichment | GLI3 | 2.48 |
| 34 | Greig cephalopolysyndactyly syndrome | Enrichment | GLI3 | 2.48 |
| 35 | Hypertelorism and tetralogy of fallot | Enrichment | FOXC1 | 2.48 |
| 36 | Curry-jones syndrome | Enrichment | SMO | 2.48 |
| 37 | Diaphanospondylodysostosis | Enrichment | BMPER | 2.48 |
| 38 | Polydactyly, preaxial iv | Enrichment | GLI3 | 2.48 |
| 39 | Polyposis syndrome, hereditary mixed, 2 | Enrichment | BMPR1A | 2.48 |
| 40 | Townes-brocks syndrome 1 | Enrichment | SALL1 | 2.48 |
| 41 | Microphthalmia/coloboma 5 | Enrichment | SHH | 2.48 |
| 42 | Otofaciocervical syndrome 1 | Enrichment | EYA1 | 2.48 |
| 43 | Polydactyly, preaxial i | Enrichment | GLI1 | 2.48 |
| 44 | Culler-jones syndrome | Enrichment | GLI2 | 2.48 |
| 45 | Mayer-rokitansky-kuster-hauser syndrome | Enrichment | GREB1L | 2.48 |
| 46 | Polydactyly, postaxial, type a8 | Enrichment | GLI1 | 2.48 |
| 47 | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | Enrichment | PBX1 | 2.48 |
| 48 | Vertebral hypersegmentation and orofacial anomalies | Enrichment | GDF11 | 2.48 |
| 49 | Microphthalmia, syndromic 6 | Enrichment | BMP4 | 2.48 |
| 50 | Orofacial cleft 11 | Enrichment | BMP4 | 2.48 |
| 51 | Renal hypodysplasia/aplasia 4 | Enrichment | GFRA1 | 2.48 |
| 52 | Deafness, autosomal dominant 23 | Enrichment | SIX1 | 2.48 |
| 53 | Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 | Enrichment | HOXA11 | 2.48 |
| 54 | Camurati-engelmann disease 2 | Enrichment | TGFB2 | 2.48 |
| 55 | Meacham syndrome | Enrichment | WT1 | 2.48 |
| 56 | Holoprosencephaly 9 | Enrichment | GLI2 | 2.48 |
| 57 | Microphthalmia, syndromic 12 | Enrichment | RARB | 2.48 |
| 58 | Hirschsprung disease 3 | Enrichment | GDNF | 2.48 |
| 59 | 20p12.3 microdeletion syndrome | Enrichment | BMP2 | 2.48 |
| 60 | Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 | Enrichment | BMP2 | 2.48 |
| 61 | Mayer-rokitansky-kuster-hauser syndrome type 1 | Enrichment | GREB1L | 2.48 |
| 62 | Primary pulmonary hypertension | Enrichment | BMPR2 | 2.48 |
| 63 | Thyroid cancer | Enrichment | RET | 2.48 |
| 64 | Pulmonary hypertension | Enrichment | BMPR2 | 2.48 |
| 65 | Drug- or toxin-induced pulmonary arterial hypertension | Enrichment | BMPR2 | 2.48 |
| 66 | Pax2-related disorder | Enrichment | PAX2 | 2.48 |
| 67 | Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome | Enrichment | GLI2 | 2.48 |
| 68 | Autosomal dominant nonsyndromic hearing loss 23 | Enrichment | SIX1 | 2.48 |
| 69 | Six2-related frontonasal dysplasia | Enrichment | SIX2 | 2.48 |
| 70 | Gastrointestinal system disease | Enrichment | RET | 2.48 |
| 71 | Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome | Enrichment | SHH | 2.48 |
| 72 | Multiple endocrine neoplasia | Enrichment | RET | 2.48 |
| 73 | Ovarian cancer | Enrichment | BMPR1A, RET, WT1 | 2.34 |
| 74 | Genetic steroid-resistant nephrotic syndrome | Enrichment | PAX2, WT1 | 2.25 |
| 75 | Papillorenal syndrome | Enrichment | PAX2 | 2.18 |
| 76 | Deafness, unilateral | Enrichment | SIX1 | 2.18 |
| 77 | Manitoba oculotrichoanal syndrome | Enrichment | FREM1 | 2.18 |
| 78 | Pallister-hall-like syndrome | Enrichment | SMO | 2.18 |
| 79 | Denys-drash syndrome | Enrichment | WT1 | 2.18 |
| 80 | Pulmonary venoocclusive disease 1, autosomal dominant | Enrichment | BMPR2 | 2.18 |
| 81 | Axenfeld-rieger syndrome, type 3 | Enrichment | FOXC1 | 2.18 |
| 82 | Nephrotic syndrome, type 4 | Enrichment | WT1 | 2.18 |
| 83 | Genitourinary tract anomalies | Enrichment | HOXA11 | 2.18 |
| 84 | Macrophthalmia, colobomatous, with microcornea | Enrichment | CRIM1 | 2.18 |
| 85 | Bifid nose with or without anorectal and renal anomalies | Enrichment | FREM1 | 2.18 |
| 86 | Axenfeld-rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities | Enrichment | FOXC1 | 2.18 |
| 87 | Branchiootic syndrome 3 | Enrichment | SIX1 | 2.18 |
| 88 | Solitary median maxillary central incisor | Enrichment | SHH | 2.18 |
| 89 | Fibrodysplasia ossificans progressiva | Enrichment | BMPR2 | 2.18 |
| 90 | Frasier syndrome | Enrichment | WT1 | 2.18 |
| 91 | White-sutton syndrome | Enrichment | GLI2 | 2.18 |
| 92 | Anterior segment dysgenesis 3 | Enrichment | FOXC1 | 2.18 |
| 93 | Intellectual developmental disorder, autosomal dominant 48 | Enrichment | RARB | 2.18 |
| 94 | Pulmonary venoocclusive disease 1 | Enrichment | BMPR2 | 2.18 |
| 95 | Tibial hemimelia | Enrichment | GLI3 | 2.18 |
| 96 | Deafness, autosomal dominant 80 | Enrichment | GREB1L | 2.18 |
| 97 | Townes-brocks syndrome | Enrichment | SALL1 | 2.18 |
| 98 | Focal segmental glomerulosclerosis 7 | Enrichment | PAX2 | 2.18 |
| 99 | Synpolydactyly | Enrichment | GLI3 | 2.18 |
| 100 | Medullary thyroid carcinoma | Enrichment | RET | 2.18 |
| 101 | Loeys-dietz syndrome 4 | Enrichment | TGFB2 | 2.18 |
| 102 | Trigonocephaly 2 | Enrichment | FREM1 | 2.18 |
| 103 | Megalencephaly-polydactyly syndrome | Enrichment | MYCN | 2.18 |
| 104 | Craniosynostosis 7 | Enrichment | BMP2 | 2.18 |
| 105 | Hereditary mixed polyposis syndrome | Enrichment | BMPR1A | 2.18 |
| 106 | Interfrontal craniofaciosynostosis | Enrichment | FREM1 | 2.18 |
| 107 | Otofaciocervical syndrome | Enrichment | EYA1 | 2.18 |
| 108 | Axenfeld-rieger syndrome | Enrichment | FOXC1 | 2.18 |
| 109 | B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) | Enrichment | PBX1 | 2.18 |
| 110 | Pulmonary venoocclusive disease | Enrichment | BMPR2 | 2.18 |
| 111 | Familial retinoblastoma | Enrichment | MYCN | 2.18 |
| 112 | Juvenile polyposis of infancy | Enrichment | BMPR1A | 2.18 |
| 113 | Isolated radial hemimelia | Enrichment | SHH | 2.18 |
| 114 | Desmoplastic small round cell tumor | Enrichment | WT1 | 2.18 |
| 115 | Idiopathic/heritable pulmonary arterial hypertension | Enrichment | BMPR2 | 2.18 |
| 116 | Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome | Enrichment | HOXA11 | 2.18 |
| 117 | Inherited cancer-predisposing syndrome | Enrichment | BMPR1A, RET, WT1 | 2.02 |
| 118 | Retinoblastoma | Enrichment | MYCN | 2.00 |
| 119 | Thyroid carcinoma, familial medullary | Enrichment | RET | 2.00 |
| 120 | Mesothelioma, malignant | Enrichment | WT1 | 2.00 |
| 121 | Juvenile polyposis syndrome | Enrichment | BMPR1A | 2.00 |
| 122 | Acrocallosal syndrome | Enrichment | GLI3 | 2.00 |
| 123 | Syndactyly, type iv | Enrichment | SHH | 2.00 |
| 124 | Simpson-golabi-behmel syndrome, type 1 | Enrichment | GPC3 | 2.00 |
| 125 | Aarskog-scott syndrome | Enrichment | GLI3 | 2.00 |
| 126 | Mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies | Enrichment | GREB1L | 2.00 |
| 127 | Transposition of the great arteries, dextro-looped | Enrichment | BMP2 | 2.00 |
| 128 | Umbilical hernia | Enrichment | GLI3 | 2.00 |
| 129 | Gingival overgrowth | Enrichment | RET | 2.00 |
| 130 | Hypoplastic or aplastic tibia with polydactyly | Enrichment | SHH | 2.00 |
| 131 | Pulmonary arterial hypertension associated with congenital heart disease | Enrichment | BMPR2 | 2.00 |
| 132 | Aniridia 1 | Enrichment | WT1 | 1.88 |
| 133 | Branchiooculofacial syndrome | Enrichment | EYA1 | 1.88 |
| 134 | Brachydactyly, type a2 | Enrichment | BMP2 | 1.88 |
| 135 | Polydactyly, preaxial ii | Enrichment | SHH | 1.88 |
| 136 | Schizencephaly | Enrichment | SHH | 1.88 |
| 137 | Microtia-anotia | Enrichment | BMP5 | 1.88 |
| 138 | Central hypoventilation syndrome, congenital, 1 | Enrichment | RET | 1.88 |
| 139 | Mantle cell lymphoma | Enrichment | CCND1 | 1.88 |
| 140 | Haddad syndrome | Enrichment | RET | 1.88 |
| 141 | Male infertility with azoospermia or oligozoospermia due to single gene mutation | Enrichment | GLI2, GREB1L | 1.83 |
| 142 | Feingold syndrome 1 | Enrichment | MYCN | 1.78 |
| 143 | Multiple endocrine neoplasia, type iia | Enrichment | RET | 1.78 |
| 144 | Martsolf syndrome 1 | Enrichment | ANOS1 | 1.78 |
| 145 | Von hippel-lindau syndrome | Enrichment | CCND1 | 1.78 |
| 146 | Hypogonadotropic hypogonadism 1 with or without anosmia | Enrichment | ANOS1 | 1.78 |
| 147 | Pseudovaginal perineoscrotal hypospadias | Enrichment | ANOS1 | 1.78 |
| 148 | Atrioventricular septal defect | Enrichment | BMP5 | 1.78 |
| 149 | Leber congenital amaurosis 10 | Enrichment | WT1 | 1.78 |
| 150 | Congenital heart defects, multiple types, 4 | Enrichment | BMP7 | 1.78 |
| 151 | Juvenile glaucoma | Enrichment | FOXC1 | 1.78 |
| 152 | Aniridia | Enrichment | FOXC1 | 1.78 |
| 153 | Generalized juvenile polyposis/juvenile polyposis coli | Enrichment | BMPR1A | 1.78 |
| 154 | Fraser syndrome 1 | Enrichment | FRAS1 | 1.70 |
| 155 | Wilms tumor, aniridia, genitourinary anomalies, and impaired intellectual development syndrome | Enrichment | WT1 | 1.70 |
| 156 | Wilms tumor 5 | Enrichment | WT1 | 1.70 |
| 157 | Anterior segment dysgenesis 5 | Enrichment | BMP4 | 1.70 |
| 158 | Congenital anomalies of kidney and urinary tract 1 | Enrichment | PAX2 | 1.70 |
| 159 | Renal hypoplasia | Enrichment | PAX2 | 1.70 |
| 160 | Sporadic pheochromocytoma/secreting paraganglioma | Enrichment | RET | 1.70 |
| 161 | Hemochromatosis, type 1 | Enrichment | BMP2 | 1.58 |
| 162 | Hypothyroidism | Enrichment | RET | 1.58 |
| 163 | Neuroblastoma | Enrichment | MYCN | 1.58 |
| 164 | Difference of sex development | Enrichment | WT1 | 1.58 |
| 165 | Combined pituitary hormone deficiency | Enrichment | GLI2 | 1.58 |
| 166 | Tooth agenesis, selective, 1 | Enrichment | BMPR2 | 1.53 |
| 167 | Ellis-van creveld syndrome | Enrichment | GLI1 | 1.53 |
| 168 | Leukemia, acute lymphoblastic 3 | Enrichment | WT1 | 1.53 |
| 169 | Loeys-dietz syndrome | Enrichment | TGFB2 | 1.53 |
| 170 | Hypogonadotropic hypogonadism | Enrichment | ANOS1 | 1.53 |
| 171 | Cystic kidney disease | Enrichment | PAX2 | 1.53 |
| 172 | Marfan syndrome | Enrichment | TGFB2 | 1.49 |
| 173 | Leukemia, chronic lymphocytic | Enrichment | CCND1 | 1.49 |
| 174 | Stickler syndrome | Enrichment | BMP4 | 1.49 |
| 175 | Colorectal cancer | Enrichment | CCND1, RET | 1.47 |
| 176 | 46,xy complete gonadal dysgenesis | Enrichment | WT1 | 1.44 |
| 177 | Heritable pulmonary arterial hypertension | Enrichment | BMPR2 | 1.44 |
| 178 | Familial colorectal cancer type x | Enrichment | BMPR1A | 1.44 |
| 179 | Septooptic dysplasia | Enrichment | SHH | 1.41 |
| 180 | Meningioma | Enrichment | SMO | 1.41 |
| 181 | Pulmonary hypertension, primary, 1 | Enrichment | BMPR2 | 1.37 |
| 182 | Acute promyelocytic leukemia | Enrichment | RARA | 1.37 |
| 183 | Hypogonadotropic hypogonadism 7 with or without anosmia | Enrichment | ANOS1 | 1.34 |
| 184 | Pheochromocytoma | Enrichment | RET | 1.34 |
| 185 | Cleft lip/palate | Enrichment | BMP4 | 1.34 |
| 186 | 46,xy partial gonadal dysgenesis | Enrichment | WT1 | 1.34 |
| 187 | Anterior segment dysgenesis | Enrichment | FOXC1 | 1.31 |
| 188 | Kidney disease | Enrichment | WT1 | 1.31 |
| 189 | Ehlers-danlos syndrome | Enrichment | TGFB2 | 1.21 |
| 190 | Macs syndrome | Enrichment | SHH | 1.19 |
| 191 | Hereditary paraganglioma-pheochromocytoma syndromes | Enrichment | RET | 1.17 |
| 192 | Hepatocellular carcinoma | Enrichment | RET | 1.15 |
| 193 | Microphthalmia | Enrichment | RARB | 1.15 |
| 194 | Kallmann syndrome | Enrichment | ANOS1 | 1.13 |
| 195 | Tetralogy of fallot | Enrichment | RET | 1.08 |
| 196 | Differentiated thyroid carcinoma | Enrichment | RET | 1.04 |
| 197 | Nephrotic syndrome | Enrichment | PAX2 | 0.88 |
| 198 | Familial thoracic aortic aneurysm and aortic dissection | Enrichment | TGFB2 | 0.87 |
| 199 | Hereditary breast carcinoma | Enrichment | RET | 0.87 |
| 200 | Sensorineural hearing loss | Enrichment | RET | 0.83 |
| 201 | Hypertelorism | Enrichment | RET | 0.80 |
| 202 | Rare autosomal dominant non-syndromic sensorineural deafness type dfna | Enrichment | SIX1 | 0.80 |
| 203 | Myeloma, multiple | Enrichment | CCND1 | 0.77 |
| 204 | Primary ovarian insufficiency | Enrichment | WT1 | 0.75 |
| 205 | Autism | Enrichment | SHH | 0.67 |
| 206 | Breast cancer | Enrichment | RET | 0.66 |
| 207 | Rare genetic deafness | Enrichment | EYA1 | 0.64 |
| 208 | Autism spectrum disorder | Enrichment | PBX1 | 0.52 |
| 209 | Hereditary retinal dystrophy | Enrichment | PAX2 | 0.21 |
| 210 | Fundus dystrophy | Enrichment | PAX2 | 0.21 |