| 1 | Asphyxiating thoracic dystrophy | Enrichment | DYNC2H1, DYNC2I1, DYNC2I2, IFT140, IFT27, IFT74, IFT80, IFT81, TRAF3IP1, TTC21B, WDR19, WDR35 | 16.00 |
| 2 | Jeune thoracic dystrophy | Enrichment | DYNC2H1, DYNC2I1, DYNC2I2, IFT140, IFT27, IFT74, IFT80, IFT81, TRAF3IP1, TTC21B, WDR19, WDR35 | 16.00 |
| 3 | Short-rib thoracic dysplasia 1 with or without polydactyly | Enrichment | DYNC2H1, DYNC2I1, DYNC2I2, DYNC2LI1, IFT140, IFT172, IFT27, IFT74, IFT80, IFT81, TRAF3IP1, TTC21B, WDR19, WDR35 | 10.97 |
| 4 | Short rib-polydactyly syndrome, verma-naumoff type | Enrichment | DYNC2H1, DYNC2I1, DYNC2I2, IFT80, WDR35 | 10.95 |
| 5 | Short rib-polydactyly syndrome | Enrichment | DYNC2H1, IFT43, IFT52, IFT81, WDR35 | 10.65 |
| 6 | Cranioectodermal dysplasia | Enrichment | IFT122, IFT140, IFT43, IFT52, WDR19, WDR35 | 10.54 |
| 7 | Short-rib thoracic dysplasia 12 | Enrichment | DYNC2H1, IFT122, IFT80, TTC21B, WDR19 | 10.21 |
| 8 | Short-rib thoracic dysplasia 6 with or without polydactyly | Enrichment | DYNC2H1, IFT172, IFT80, TRAF3IP1, TTC21B | 9.19 |
| 9 | Cranioectodermal dysplasia 1 | Enrichment | IFT122, IFT140, WDR19, WDR35 | 8.11 |
| 10 | Tubulinopathy-associated dysgyria | Enrichment | TUBA1A, TUBB2B, TUBB3 | 7.22 |
| 11 | Short-rib thoracic dysplasia 3 with or without polydactyly | Enrichment | DYNC2H1, DYNC2I1, DYNC2I2, DYNLT2B | 6.96 |
| 12 | Tubulinopathy | Enrichment | TUBA1A, TUBB2A, TUBB2B | 6.62 |
| 13 | Short-rib thoracic dysplasia 9 with or without polydactyly | Enrichment | IFT140, IFT172, WDR19 | 6.23 |
| 14 | Congenital fibrosis of the extraocular muscles | Enrichment | TUBA1A, TUBB2B, TUBB3 | 5.93 |
| 15 | Bardet-biedl syndrome 22 | Enrichment | IFT172, IFT74 | 4.81 |
| 16 | Senior-loken syndrome 1 | Enrichment | TRAF3IP1, TTC21B, WDR19 | 4.78 |
| 17 | Lissencephaly | Enrichment | TUBA1A, TUBB2B, TUBB3 | 4.12 |
| 18 | Retinitis pigmentosa | Enrichment | IFT122, IFT140, IFT172, IFT43, IFT81, IFT88 | 3.73 |
| 19 | Connective tissue disease | Enrichment | TRIP11, TTC21B, WDR19 | 3.56 |
| 20 | Nephronophthisis | Enrichment | IFT140, TTC21B, WDR19 | 3.52 |
| 21 | Polymicrogyria, bilateral perisylvian, x-linked | Enrichment | TUBA1A, TUBB2B | 3.49 |
| 22 | Leber plus disease | Enrichment | CLUAP1, IFT140, TUBB4B, WDR19 | 3.26 |
| 23 | Bilateral perisylvian polymicrogyria | Enrichment | TUBA1A, TUBB2B | 3.26 |
| 24 | Bardet-biedl syndrome | Enrichment | IFT172, IFT27, IFT74 | 3.21 |
| 25 | Hereditary retinal dystrophy | Enrichment | DYNC2H1, IFT140, IFT172, IFT81, TTC21B, WDR19 | 3.00 |
| 26 | Fundus dystrophy | Enrichment | DYNC2H1, IFT140, IFT172, IFT81, TTC21B, WDR19 | 3.00 |
| 27 | Achondrogenesis, type ia | Enrichment | TRIP11 | 2.40 |
| 28 | Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement | Enrichment | TUBB3 | 2.40 |
| 29 | Macrothrombocytopenia, isolated, 1, autosomal dominant | Enrichment | TUBB1 | 2.40 |
| 30 | Odontochondrodysplasia 1 | Enrichment | TRIP11 | 2.40 |
| 31 | Senior-loken syndrome 8 | Enrichment | WDR19 | 2.40 |
| 32 | Cranioectodermal dysplasia 4 | Enrichment | WDR19 | 2.40 |
| 33 | Orofaciodigital syndrome xviii | Enrichment | IFT57 | 2.40 |
| 34 | Leber congenital amaurosis with early-onset deafness | Enrichment | TUBB4B | 2.40 |
| 35 | Short-rib thoracic dysplasia 18 with polydactyly | Enrichment | IFT43 | 2.40 |
| 36 | Oocyte/zygote/embryo maturation arrest 24 | Enrichment | TUBA1C | 2.40 |
| 37 | Biliary, renal, neurologic, and skeletal syndrome | Enrichment | IFT56 | 2.40 |
| 38 | Spermatogenic failure 72 | Enrichment | WDR19 | 2.40 |
| 39 | Short-rib thoracic dysplasia 5 with or without polydactyly | Enrichment | WDR19 | 2.40 |
| 40 | Cortical dysplasia, complex, with other brain malformations 7 | Enrichment | TUBB2B | 2.40 |
| 41 | Cranioectodermal dysplasia 3 | Enrichment | IFT43 | 2.40 |
| 42 | Retinitis pigmentosa 89 | Enrichment | KIF3B | 2.40 |
| 43 | Oocyte/zygote/embryo maturation arrest 23 | Enrichment | TUBA4A | 2.40 |
| 44 | Nephronophthisis 13 | Enrichment | WDR19 | 2.40 |
| 45 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 9 | Enrichment | TUBA4A | 2.40 |
| 46 | Retinitis pigmentosa 81 | Enrichment | IFT43 | 2.40 |
| 47 | Short-rib thoracic dysplasia 8 with or without polydactyly | Enrichment | DYNC2I1 | 2.40 |
| 48 | Senior-loken syndrome 9 | Enrichment | TRAF3IP1 | 2.40 |
| 49 | Short-rib thoracic dysplasia 16 with or without polydactyly | Enrichment | IFT52 | 2.40 |
| 50 | Facial palsy, congenital, with ptosis and velopharyngeal dysfunction | Enrichment | TUBB6 | 2.40 |
| 51 | Short-rib thoracic dysplasia 19 with or without polydactyly | Enrichment | IFT81 | 2.40 |
| 52 | Joubert syndrome 40 | Enrichment | IFT74 | 2.40 |
| 53 | Spermatogenic failure 58 | Enrichment | IFT74 | 2.40 |
| 54 | Lung disease | Enrichment | DYNC2H1 | 2.40 |
| 55 | Lissencephaly due to tuba1a mutation | Enrichment | TUBA1A | 2.40 |
| 56 | Congenital myopathy 26 | Enrichment | TUBA4A | 2.40 |
| 57 | Spastic ataxia 11, autosomal dominant | Enrichment | TUBA4A | 2.40 |
| 58 | Amyotrophic lateral sclerosis type 22 | Enrichment | TUBA4A | 2.40 |
| 59 | Dystonia 4, torsion, autosomal dominant | Enrichment | TUBB4A | 2.10 |
| 60 | Short-rib thoracic dysplasia 2 with or without polydactyly | Enrichment | IFT80 | 2.10 |
| 61 | Muscular dystrophy, limb-girdle, autosomal recessive 3 | Enrichment | TUBA1A | 2.10 |
| 62 | Short-rib thoracic dysplasia 17 with or without polydactyly | Enrichment | DYNLT2B | 2.10 |
| 63 | Nephronophthisis 12 | Enrichment | TTC21B | 2.10 |
| 64 | Cranioectodermal dysplasia 2 | Enrichment | WDR35 | 2.10 |
| 65 | Short-rib thoracic dysplasia 4 with or without polydactyly | Enrichment | TTC21B | 2.10 |
| 66 | Polycystic kidney disease 9 | Enrichment | IFT140 | 2.10 |
| 67 | Sitosterolemia 2 | Enrichment | DYNC2LI1 | 2.10 |
| 68 | Keratoconus 9 | Enrichment | TUBA3D | 2.10 |
| 69 | Autosomal recessive limb-girdle muscular dystrophy type 2d | Enrichment | TUBA1A | 2.10 |
| 70 | Cranioectodermal dysplasia 5 | Enrichment | IFT140 | 2.10 |
| 71 | Lissencephaly 3 | Enrichment | TUBA1A | 2.10 |
| 72 | Short-rib thoracic dysplasia 15 with polydactyly | Enrichment | DYNC2LI1 | 2.10 |
| 73 | Cortical dysplasia, complex, with other brain malformations 1 | Enrichment | TUBB3 | 2.10 |
| 74 | Short-rib thoracic dysplasia 7 with or without polydactyly | Enrichment | WDR35 | 2.10 |
| 75 | Torsion dystonia 4 | Enrichment | TUBB4A | 2.10 |
| 76 | Continuous spikes and waves during sleep | Enrichment | TUBA1A | 2.10 |
| 77 | Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene | Enrichment | IFT140 | 2.10 |
| 78 | Cerebral palsy | Enrichment | TUBA1A, TUBB4A | 1.98 |
| 79 | Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss | Enrichment | TUBB1 | 1.92 |
| 80 | Caroli disease, isolated | Enrichment | IFT56 | 1.92 |
| 81 | Nephronophthisis 2 | Enrichment | TTC21B | 1.92 |
| 82 | Leukodystrophy, hypomyelinating, 6 | Enrichment | TUBB4A | 1.92 |
| 83 | Sitosterolemia 1 | Enrichment | DYNC2LI1 | 1.92 |
| 84 | Bardet-biedl syndrome 19 | Enrichment | IFT27 | 1.92 |
| 85 | Short-rib thoracic dysplasia 11 with or without polydactyly | Enrichment | DYNC2I2 | 1.92 |
| 86 | Cortical dysplasia, complex, with other brain malformations 5 | Enrichment | TUBB2A | 1.92 |
| 87 | Caroli disease | Enrichment | IFT56 | 1.92 |
| 88 | Sitosterolemia | Enrichment | DYNC2LI1 | 1.92 |
| 89 | Retinitis pigmentosa 80 | Enrichment | IFT140 | 1.92 |
| 90 | Orofaciodigital syndrome iii | Enrichment | IFT140 | 1.80 |
| 91 | Short-rib thoracic dysplasia 10 with or without polydactyly | Enrichment | IFT172 | 1.80 |
| 92 | Retinitis pigmentosa 71 | Enrichment | IFT172 | 1.80 |
| 93 | Bardet-biedl syndrome 20 | Enrichment | IFT172 | 1.80 |
| 94 | Newborn respiratory distress syndrome | Enrichment | DYNC2H1 | 1.80 |
| 95 | Joubert syndrome 1 | Enrichment | CLUAP1, IFT172 | 1.77 |
| 96 | Joubert syndrome with jeune asphyxiating thoracic dystrophy | Enrichment | IFT140 | 1.70 |
| 97 | Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1 | Enrichment | TUBB2B | 1.63 |
| 98 | Early myoclonic encephalopathy | Enrichment | TUBA1A | 1.63 |
| 99 | Spermatogenic failure 5 | Enrichment | IFT74 | 1.50 |
| 100 | Polycystic kidney disease 4 with or without polycystic liver disease | Enrichment | DYNC2H1 | 1.50 |
| 101 | Cryptorchidism | Enrichment | TUBA1A | 1.50 |
| 102 | Infantile nephronophthisis | Enrichment | TTC21B | 1.50 |
| 103 | Nephrotic syndrome, type 1 | Enrichment | TTC21B | 1.45 |
| 104 | Cryptorchidism, unilateral or bilateral | Enrichment | TUBA1A | 1.45 |
| 105 | Ellis-van creveld syndrome | Enrichment | DYNC2LI1 | 1.45 |
| 106 | Cystic kidney disease | Enrichment | IFT140 | 1.45 |
| 107 | Autosomal dominant macrothrombocytopenia | Enrichment | TUBB1 | 1.41 |
| 108 | Primary bone dysplasia | Enrichment | DYNC2H1 | 1.41 |
| 109 | Osteochondrodysplasia | Enrichment | DYNC2H1 | 1.37 |
| 110 | Congenital hypothyroidism | Enrichment | TUBB1 | 1.33 |
| 111 | Corpus callosum, agenesis of | Enrichment | TUBA1A | 1.24 |
| 112 | Hydrocephalus | Enrichment | IFT56 | 1.24 |
| 113 | Autosomal dominant polycystic kidney disease | Enrichment | IFT140 | 1.24 |
| 114 | Isolated corpus callosum agenesis | Enrichment | TUBA1A | 1.24 |
| 115 | Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome | Enrichment | TUBA1A | 1.24 |
| 116 | Dandy-walker syndrome | Enrichment | TUBA1A | 1.18 |
| 117 | Congenital nervous system abnormality | Enrichment | TUBA1A, TUBB4A | 1.18 |
| 118 | Nervous system disease | Enrichment | TUBA1A, TUBB4A | 1.18 |
| 119 | Heart, malformation of | Enrichment | DYNC2H1 | 1.16 |
| 120 | Polycystic kidney disease | Enrichment | IFT140 | 1.16 |
| 121 | Cone dystrophy | Enrichment | WDR19 | 1.04 |
| 122 | Auditory neuropathy | Enrichment | TUBB4A | 1.01 |
| 123 | Isolated joubert syndrome | Enrichment | IFT74 | 0.95 |
| 124 | Fetal akinesia deformation sequence 1 | Enrichment | TUBA1A | 0.86 |
| 125 | Epilepsy | Enrichment | TTC21B | 0.83 |
| 126 | Nephrotic syndrome | Enrichment | TTC21B | 0.80 |
| 127 | Optic atrophy plus syndrome | Enrichment | TUBB6 | 0.79 |
| 128 | West syndrome | Enrichment | TUBA1A | 0.79 |
| 129 | Thrombocytopenia | Enrichment | TUBB1 | 0.76 |
| 130 | Spastic ataxia | Enrichment | TUBB3 | 0.72 |
| 131 | Cone-rod dystrophy 2 | Enrichment | IFT81 | 0.62 |
| 132 | Microcephaly | Enrichment | TUBB4A | 0.41 |