| 1 | Dilated cardiomyopathy | Enrichment | ACTA1, ACTC1, DES, EMD, FLII, FLNC, JUP, LMNA, TNNI3, TNNT2, TPM1, VCL | 6.64 |
| 2 | Lissencephaly | Enrichment | ACTG1, DCX, PAFAH1B1, TUBA1A, TUBB, TUBB3, TUBG1 | 6.59 |
| 3 | Neuromuscular disease | Enrichment | ACTA1, DES, EMD, GOLGA2, LMNA, SPTAN1 | 5.72 |
| 4 | Familial isolated dilated cardiomyopathy | Enrichment | ACTC1, DES, LMNA, TMPO, TNNI3, TNNT2, TPM1, VCL | 4.63 |
| 5 | Pachyonychia congenita 1 | Enrichment | KRT17, KRT6A, KRT6B | 4.34 |
| 6 | Familial hypertrophic cardiomyopathy | Enrichment | ACTC1, DES, FLNC, TNNI3, TNNT2, TPM1 | 4.06 |
| 7 | Cardiomyopathy, familial hypertrophic, 1 | Enrichment | FLNC, LMNA, TNNI3, TNNT2, TPM1 | 3.76 |
| 8 | Familial isolated restrictive cardiomyopathy | Enrichment | FLNC, TNNI3, TNNT2 | 3.42 |
| 9 | Arrhythmogenic right ventricular cardiomyopathy | Enrichment | DES, FLNC, JUP, LMNA | 3.42 |
| 10 | Blepharocheilodontic syndrome 1 | Enrichment | CDH1, CTNND1 | 3.29 |
| 11 | Cardiomyopathy, dilated, 1d | Enrichment | LMNA, TNNT2 | 3.29 |
| 12 | Baraitser-winter cerebrofrontofacial syndrome | Enrichment | ACTB, ACTG1 | 3.29 |
| 13 | White sponge nevus | Enrichment | KRT13, KRT4 | 3.29 |
| 14 | Myocarditis | Enrichment | LMNA, TNNI3, TNNT2 | 3.22 |
| 15 | Neuropathy, hereditary motor and sensory, okinawa type | Enrichment | EMD, LMNA, NEFL, VCP | 3.11 |
| 16 | Progressive non-fluent aphasia | Enrichment | CHMP2B, MAPT, VCP | 3.06 |
| 17 | Behavioral variant of frontotemporal dementia | Enrichment | CHMP2B, MAPT, VCP | 3.06 |
| 18 | Left ventricular noncompaction | Enrichment | ACTC1, LMNA, TNNI3, TNNT2, TPM1 | 2.96 |
| 19 | Band heterotopia | Enrichment | DCX, PAFAH1B1 | 2.82 |
| 20 | Cryptogenic cirrhosis | Enrichment | KRT18, KRT8 | 2.82 |
| 21 | Tubulinopathy-associated dysgyria | Enrichment | TUBA1A, TUBB3 | 2.82 |
| 22 | Restrictive cardiomyopathy | Enrichment | FLNC, TNNI3, TNNT2 | 2.66 |
| 23 | Hereditary spastic paraplegia | Enrichment | ATL1, ERLIN1, ERLIN2, SPTAN1, ZFYVE26 | 2.60 |
| 24 | Emery-dreifuss muscular dystrophy 1, x-linked | Enrichment | EMD, LMNA | 2.52 |
| 25 | Emery-dreifuss muscular dystrophy | Enrichment | EMD, LMNA | 2.52 |
| 26 | Sick sinus syndrome | Enrichment | CORO1A, LMNA | 2.52 |
| 27 | Epidermolysis bullosa simplex 2f, with mottled pigmentation | Enrichment | KRT5, PLEC | 2.31 |
| 28 | Epidermolysis bullosa simplex 1a, generalized severe | Enrichment | KRT5, PLEC | 2.31 |
| 29 | Martsolf syndrome 1 | Enrichment | ARHGAP35, ARHGAP5 | 2.31 |
| 30 | Charcot-marie-tooth disease, axonal, type 2e | Enrichment | NEFL, VCP | 2.31 |
| 31 | Chromosome 15q11.2 deletion syndrome | Enrichment | PAFAH1B1, TUBG1 | 2.31 |
| 32 | Histiocytoid hemangioma | Enrichment | LMNA, VIM | 2.31 |
| 33 | Cardiomyopathy, dilated, 1e | Enrichment | DES, LMNA, TPM1 | 2.21 |
| 34 | Moyamoya disease 1 | Enrichment | ACTA2, DIAPH1 | 2.14 |
| 35 | Epidermolysis bullosa, junctional 5b, with pyloric atresia | Enrichment | MYO6, PLEC | 2.14 |
| 36 | Congenital fibrosis of the extraocular muscles | Enrichment | TUBA1A, TUBB3 | 2.14 |
| 37 | Cleft lip with or without cleft palate | Enrichment | CDH1, CTNND1 | 2.14 |
| 38 | Patent foramen ovale | Enrichment | ACTC1, FLNA, FLNC | 2.13 |
| 39 | Non-syndromic genetic deafness | Enrichment | ACTG1, MYH14, MYO6, RDX | 2.06 |
| 40 | Semantic dementia | Enrichment | CHMP2B, MAPT | 2.00 |
| 41 | Epidermolysis bullosa simplex | Enrichment | KRT5, PLEC | 2.00 |
| 42 | Myofibrillar myopathy | Enrichment | DES, FLNC | 2.00 |
| 43 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 | Enrichment | CHMP2B, DCTN1, MAPT, PFN1, VCP | 2.00 |
| 44 | Cardiomyopathy, dilated, 1a | Enrichment | FLNC, LMNA, TNNI3 | 1.94 |
| 45 | Myopathy | Enrichment | ACTA1, DNM2, EMD, PLEC | 1.90 |
| 46 | Skin disease | Enrichment | FERMT1, KRT17, PLEC | 1.89 |
| 47 | Charcot-marie-tooth disease | Enrichment | DCTN1, DNM2, LMNA, NEFL | 1.87 |
| 48 | Nonsyndromic hearing loss | Enrichment | ACTG1, MYH14, MYO6, RDX | 1.83 |
| 49 | Hypertrophic cardiomyopathy | Enrichment | ACTC1, TNNI3, TNNT2, TPM1 | 1.79 |
| 50 | Cardiomyopathy, familial hypertrophic, 4 | Enrichment | TNNI3, TNNT2 | 1.78 |
| 51 | Nemaline myopathy | Enrichment | ACTA1, FLNC | 1.69 |
| 52 | Autosomal dominant macrothrombocytopenia | Enrichment | ACTN1, ITGA2B | 1.69 |
| 53 | Palmoplantar keratoderma and congenital alopecia 1 | Enrichment | GJA1 | 1.64 |
| 54 | Leukodystrophy, demyelinating, adult-onset, autosomal dominant, typical | Enrichment | LMNB1 | 1.64 |
| 55 | Cardiomyopathy, familial hypertrophic, 2 | Enrichment | TNNT2 | 1.64 |
| 56 | Cardiomyopathy, familial hypertrophic, 3 | Enrichment | TPM1 | 1.64 |
| 57 | Kindler syndrome | Enrichment | FERMT1 | 1.64 |
| 58 | Boomerang dysplasia | Enrichment | FLNB | 1.64 |
| 59 | Charcot-marie-tooth disease, axonal, type 2a1 | Enrichment | KIF1B | 1.64 |
| 60 | Skin creases, congenital symmetric circumferential, 1 | Enrichment | TUBB | 1.64 |
| 61 | Perry syndrome | Enrichment | DCTN1 | 1.64 |
| 62 | Pachyonychia congenita 2 | Enrichment | KRT17 | 1.64 |
| 63 | Elsahy-waters syndrome | Enrichment | CDH11 | 1.64 |
| 64 | Hypoplastic left heart syndrome 1 | Enrichment | GJA1 | 1.64 |
| 65 | Spastic paraplegia 3, autosomal dominant | Enrichment | ATL1 | 1.64 |
| 66 | Baraitser-winter syndrome 1 | Enrichment | ACTB | 1.64 |
| 67 | Thrombocytopenia 1 | Enrichment | WAS | 1.64 |
| 68 | Pulmonary atresia with intact ventricular septum | Enrichment | TPM1 | 1.64 |
| 69 | Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement | Enrichment | TUBB3 | 1.64 |
| 70 | Intellectual developmental disorder, x-linked 30 | Enrichment | PAK3 | 1.64 |
| 71 | Intellectual developmental disorder, x-linked 99 | Enrichment | USP9X | 1.64 |
| 72 | Griscelli syndrome, type 2 | Enrichment | RAB27A | 1.64 |
| 73 | Focal segmental glomerulosclerosis 1 | Enrichment | ACTN4 | 1.64 |
| 74 | Immunodeficiency 50 | Enrichment | MSN | 1.64 |
| 75 | Otopalatodigital syndrome, type i | Enrichment | FLNA | 1.64 |
| 76 | Arrhythmogenic right ventricular dysplasia, familial, 12 | Enrichment | JUP | 1.64 |
| 77 | Intestinal pseudoobstruction, neuronal, chronic idiopathic, x-linked | Enrichment | FLNA | 1.64 |
| 78 | Immunodeficiency 61 | Enrichment | SH3KBP1 | 1.64 |
| 79 | Cardiomyopathy, dilated, 2a | Enrichment | TNNI3 | 1.64 |
| 80 | Lipodystrophy, congenital generalized, type 3 | Enrichment | CAV1 | 1.64 |
| 81 | Dystonia 1, torsion, autosomal dominant | Enrichment | TOR1A | 1.64 |
| 82 | Deafness, autosomal recessive 24 | Enrichment | RDX | 1.64 |
| 83 | Deafness, autosomal dominant 17 | Enrichment | MYH9 | 1.64 |
| 84 | Spastic paraplegia 18b, autosomal recessive | Enrichment | ERLIN2 | 1.64 |
| 85 | Immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis | Enrichment | RAC2 | 1.64 |
| 86 | Tubulointerstitial kidney disease, autosomal dominant 2 | Enrichment | MUC1 | 1.64 |
| 87 | Cardiomyopathy, familial restrictive, 3 | Enrichment | TNNT2 | 1.64 |
| 88 | Cone-rod dystrophy 9 | Enrichment | ADAM9 | 1.64 |
| 89 | Melanoma, uveal 2 | Enrichment | BAP1 | 1.64 |
| 90 | Craniolenticulosutural dysplasia | Enrichment | SEC23A | 1.64 |
| 91 | Congenital myopathy 2a, typical, autosomal dominant | Enrichment | ACTA1 | 1.64 |
| 92 | Oculodentodigital dysplasia | Enrichment | GJA1 | 1.64 |
| 93 | Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1 | Enrichment | VCP | 1.64 |
| 94 | Raph blood group system | Enrichment | CD151 | 1.64 |
| 95 | Cardiomyopathy, familial hypertrophic, 7 | Enrichment | TNNI3 | 1.64 |
| 96 | Schwannomatosis, vestibular | Enrichment | NF2 | 1.64 |
| 97 | Amyloidosis, finnish type | Enrichment | GSN | 1.64 |
| 98 | Deafness, autosomal dominant 22 | Enrichment | MYO6 | 1.64 |
| 99 | Optic atrophy 5 | Enrichment | DNM1L | 1.64 |
| 100 | Atelosteogenesis, type iii | Enrichment | FLNB | 1.64 |
| 101 | Deafness, autosomal dominant 1, with or without thrombocytopenia | Enrichment | DIAPH1 | 1.64 |
| 102 | Atelosteogenesis, type i | Enrichment | FLNB | 1.64 |
| 103 | Developmental and epileptic encephalopathy 5 | Enrichment | SPTAN1 | 1.64 |
| 104 | Amyotrophic lateral sclerosis 18 | Enrichment | PFN1 | 1.64 |
| 105 | Cortical dysplasia, complex, with other brain malformations 6 | Enrichment | TUBB | 1.64 |
| 106 | Charcot-marie-tooth disease, dominant intermediate b | Enrichment | DNM2 | 1.64 |
| 107 | Myopathy, scapulohumeroperoneal | Enrichment | ACTA1 | 1.64 |
| 108 | Charcot-marie-tooth disease, demyelinating, type 1f | Enrichment | NEFL | 1.64 |
| 109 | Nephrotic syndrome, type 8 | Enrichment | ARHGDIA | 1.64 |
| 110 | Aortic aneurysm, familial thoracic 8 | Enrichment | PRKG1 | 1.64 |
| 111 | Encephalopathy due to defective mitochondrial and peroxisomal fission 1 | Enrichment | DNM1L | 1.64 |
| 112 | Neuroblastoma 1 | Enrichment | KIF1B | 1.64 |
| 113 | Pachyonychia congenita 3 | Enrichment | KRT6A | 1.64 |
| 114 | Scapuloperoneal syndrome, neurogenic, kaeser type | Enrichment | DES | 1.64 |
| 115 | Pulmonary hypertension, primary, 3 | Enrichment | CAV1 | 1.64 |
| 116 | Steatocystoma multiplex | Enrichment | KRT17 | 1.64 |
| 117 | White sponge nevus 1 | Enrichment | KRT4 | 1.64 |
| 118 | Craniometaphyseal dysplasia, autosomal recessive | Enrichment | GJA1 | 1.64 |
| 119 | Immunodeficiency 62 | Enrichment | ARHGEF1 | 1.64 |
| 120 | Fetal akinesia deformation sequence 4 | Enrichment | NUP88 | 1.64 |
| 121 | Hiatt-neu-cooper neurodevelopmental syndrome | Enrichment | RALA | 1.64 |
| 122 | Naxos disease | Enrichment | JUP | 1.64 |
| 123 | Halperin-birk syndrome | Enrichment | SEC31A | 1.64 |
| 124 | Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 | Enrichment | ACTG2 | 1.64 |
| 125 | Teebi hypertelorism syndrome 2 | Enrichment | CDH11 | 1.64 |
| 126 | Neurodevelopmental disorder with midbrain and hindbrain malformations | Enrichment | ARHGEF2 | 1.64 |
| 127 | Anencephaly 2 | Enrichment | NUAK2 | 1.64 |
| 128 | Knobloch syndrome 2 | Enrichment | PAK2 | 1.64 |
| 129 | Deafness, autosomal dominant 4a | Enrichment | MYH14 | 1.64 |
| 130 | Terminal osseous dysplasia | Enrichment | FLNA | 1.64 |
| 131 | Developmental and epileptic encephalopathy 91 | Enrichment | PPP3CA | 1.64 |
| 132 | Charcot-marie-tooth disease, axonal, type 2b | Enrichment | RAB7A | 1.64 |
| 133 | Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies | Enrichment | RAC3 | 1.64 |
| 134 | Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development | Enrichment | PPP3CA | 1.64 |
| 135 | Cardiomyopathy, dilated, 2j | Enrichment | FLII | 1.64 |
| 136 | Charcot-marie-tooth disease, dominant intermediate g | Enrichment | NEFL | 1.64 |
| 137 | Intellectual developmental disorder with macrocephaly, seizures, and speech delay | Enrichment | PAK1 | 1.64 |
| 138 | Lissencephaly, x-linked, 1 | Enrichment | DCX | 1.64 |
| 139 | Fetomaternal alloimmune thrombocytopenia 2 | Enrichment | ITGA2B | 1.64 |
| 140 | Congenital smooth muscle hamartoma, with or without hemihypertrophy | Enrichment | ACTB | 1.64 |
| 141 | Fg syndrome 2 | Enrichment | FLNA | 1.64 |
| 142 | Premature ovarian failure 2a | Enrichment | DIAPH2 | 1.64 |
| 143 | Charcot-marie-tooth disease type 2b | Enrichment | RAB7A | 1.64 |
| 144 | Neurodegeneration with brain iron accumulation 7 | Enrichment | REPS1 | 1.64 |
| 145 | Azoospermia, obstructive, with nephrolithiasis | Enrichment | CLDN2 | 1.64 |
| 146 | Deafness, autosomal recessive 37 | Enrichment | MYO6 | 1.64 |
| 147 | Parkinson-dementia syndrome | Enrichment | MAPT | 1.64 |
| 148 | Spastic paraplegia 15, autosomal recessive | Enrichment | ZFYVE26 | 1.64 |
| 149 | Immunodeficiency 110 with lymphoproliferation | Enrichment | STK4 | 1.64 |
| 150 | Intellectual developmental disorder, x-linked 99, syndromic, female-restricted | Enrichment | USP9X | 1.64 |
| 151 | Intellectual developmental disorder, x-linked 46 | Enrichment | ARHGEF6 | 1.64 |
| 152 | Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia | Enrichment | RAC2 | 1.64 |
| 153 | Intellectual developmental disorder, autosomal dominant 76 | Enrichment | MARK2 | 1.64 |
| 154 | Supranuclear palsy, progressive, 1 | Enrichment | MAPT | 1.64 |
| 155 | Adult onset demyelinating leukodystrophy | Enrichment | LMNB1 | 1.64 |
| 156 | Palmoplantar keratoderma, nonepidermolytic, focal or diffuse | Enrichment | KRT6C | 1.64 |
| 157 | Oculodentodigital dysplasia, autosomal recessive | Enrichment | GJA1 | 1.64 |
| 158 | Lipodystrophy, familial partial, type 7 | Enrichment | CAV1 | 1.64 |
| 159 | Epilepsy, progressive myoclonic, 9 | Enrichment | LMNB2 | 1.64 |
| 160 | White sponge nevus 2 | Enrichment | KRT13 | 1.64 |
| 161 | Cardiomyopathy, dilated, 1w | Enrichment | VCL | 1.64 |
| 162 | Progressive supranuclear palsy | Enrichment | MAPT | 1.64 |
| 163 | Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter | Enrichment | RAB11B | 1.64 |
| 164 | Hereditary spastic paraplegia 18 | Enrichment | ERLIN2 | 1.64 |
| 165 | Lipodystrophy, partial, acquired | Enrichment | LMNB2 | 1.64 |
| 166 | Otopalatodigital syndrome spectrum disorder | Enrichment | FLNA | 1.64 |
| 167 | Becker nevus syndrome | Enrichment | ACTB | 1.64 |
| 168 | Neuronopathy, distal hereditary motor, autosomal dominant 14 | Enrichment | DCTN1 | 1.64 |
| 169 | Pancreatic cancer 1 | Enrichment | PALLD | 1.64 |
| 170 | Dystonia-deafness syndrome 1 | Enrichment | ACTB | 1.64 |
| 171 | Epidermolysis bullosa simplex 7, with nephropathy and deafness | Enrichment | CD151 | 1.64 |
| 172 | Focal segmental glomerulosclerosis 3 | Enrichment | CD2AP | 1.64 |
| 173 | Visceral neuropathy, familial, 3, autosomal dominant | Enrichment | ACTG2 | 1.64 |
| 174 | Charcot-marie-tooth disease type 1f | Enrichment | NEFL | 1.64 |
| 175 | Charcot-marie-tooth disease type 2a1 | Enrichment | KIF1B | 1.64 |
| 176 | Lethal congenital contracture syndrome 5 | Enrichment | DNM2 | 1.64 |
| 177 | Cardiomyopathy, familial hypertrophic, 15 | Enrichment | VCL | 1.64 |
| 178 | Developmental delay with hypotonia, myopathy, and brain abnormalities | Enrichment | GOLGA2 | 1.64 |
| 179 | Congenital myopathy 2b, severe infantile, autosomal recessive | Enrichment | ACTA1 | 1.64 |
| 180 | Neuropathy, hereditary sensory, type id | Enrichment | ATL1 | 1.64 |
| 181 | Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies | Enrichment | RAP1B | 1.64 |
| 182 | Immunodeficiency 46 | Enrichment | TFRC | 1.64 |
| 183 | Bleeding disorder, platelet-type, 15 | Enrichment | ACTN1 | 1.64 |
| 184 | Retinitis pigmentosa 89 | Enrichment | KIF3B | 1.64 |
| 185 | Peripheral neuropathy, myopathy, hoarseness, and hearing loss | Enrichment | MYH14 | 1.64 |
| 186 | Pachyonychia congenita 4 | Enrichment | KRT6B | 1.64 |
| 187 | Microcephaly 26, primary, autosomal dominant | Enrichment | LMNB1 | 1.64 |
| 188 | Lynch syndrome 8 | Enrichment | EPCAM | 1.64 |
| 189 | Autosomal dominant familial visceral neuropathy | Enrichment | ACTG2 | 1.64 |
| 190 | Lipodystrophy, congenital generalized, type 4 | Enrichment | CAVIN1 | 1.64 |
| 191 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 | Enrichment | VCP | 1.64 |
| 192 | Visual impairment and progressive phthisis bulbi | Enrichment | MARK3 | 1.64 |
| 193 | Atypical werner syndrome | Enrichment | LMNA | 1.64 |
| 194 | Was-related disorders | Enrichment | WAS | 1.64 |
| 195 | X-linked ehlers-danlos syndrome | Enrichment | FLNA | 1.64 |
| 196 | Maturity-onset diabetes of the young, type 14 | Enrichment | APPL1 | 1.64 |
| 197 | Seizures, cortical blindness, and microcephaly syndrome | Enrichment | DIAPH1 | 1.64 |
| 198 | Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies | Enrichment | RHOA | 1.64 |
| 199 | Erythrokeratodermia variabilis et progressiva 3 | Enrichment | GJA1 | 1.64 |
| 200 | Takenouchi-kosaki syndrome | Enrichment | CDC42 | 1.64 |
| 201 | Diaph1-related sensorineural hearing loss-thrombocytopenia syndrome | Enrichment | DIAPH1 | 1.64 |
| 202 | Congenital myopathy 2c, severe infantile, autosomal dominant | Enrichment | ACTA1 | 1.64 |
| 203 | Low density lipoprotein cholesterol level quantitative trait locus 8 | Enrichment | LIMA1 | 1.64 |
| 204 | Thrombocytopenia 8, with dysmorphic features and developmental delay | Enrichment | ACTB | 1.64 |
| 205 | Classic progressive supranuclear palsy syndrome | Enrichment | MAPT | 1.64 |
| 206 | Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies | Enrichment | RHOA | 1.64 |
| 207 | Peho-like syndrome | Enrichment | CCDC88A | 1.64 |
| 208 | Arthrogryposis multiplex congenita 5 | Enrichment | TOR1A | 1.64 |
| 209 | Mitochondrial complex iv deficiency, nuclear type 16 | Enrichment | COX4I1 | 1.64 |
| 210 | Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia | Enrichment | RAC2 | 1.64 |
| 211 | Multisystem proteinopathy | Enrichment | VCP | 1.64 |
| 212 | Griscelli syndrome | Enrichment | RAB27A | 1.64 |
| 213 | Microcephaly 27, primary, autosomal dominant | Enrichment | LMNB2 | 1.64 |
| 214 | Spastic paraplegia 62, autosomal recessive | Enrichment | ERLIN1 | 1.64 |
| 215 | Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia | Enrichment | SPTAN1 | 1.64 |
| 216 | Developmental delay with or without epilepsy | Enrichment | SPTAN1 | 1.64 |
| 217 | Baraitser-winter syndrome | Enrichment | ACTB | 1.64 |
| 218 | Lissencephaly due to tuba1a mutation | Enrichment | TUBA1A | 1.64 |
| 219 | Dcx-related disorders | Enrichment | DCX | 1.64 |
| 220 | Adult-onset distal myopathy due to vcp mutation | Enrichment | VCP | 1.64 |
| 221 | Mandibuloacral dysplasia | Enrichment | LMNA | 1.64 |
| 222 | Atypical progressive supranuclear palsy syndrome | Enrichment | MAPT | 1.64 |
| 223 | Atrioventricular block | Enrichment | LMNA | 1.64 |
| 224 | Neuronopathy, distal hereditary motor, autosomal dominant 11 | Enrichment | SPTAN1 | 1.64 |
| 225 | Female-restricted syndromic x-linked intellectual disability 99 | Enrichment | USP9X | 1.64 |
| 226 | Autosomal dominant charcot-marie-tooth disease type 2m | Enrichment | DNM2 | 1.64 |
| 227 | Charcot-marie-tooth disease type 2b5 | Enrichment | NEFL | 1.64 |
| 228 | Flnb-related disorders | Enrichment | FLNB | 1.64 |
| 229 | Spastic paraplegia 18a, autosomal dominant | Enrichment | ERLIN2 | 1.64 |
| 230 | Breast lobular carcinoma | Enrichment | CDH1 | 1.64 |
| 231 | Autosomal dominant nonsyndromic hearing loss 17 | Enrichment | MYH9 | 1.64 |
| 232 | Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome | Enrichment | MYO6 | 1.64 |
| 233 | Focal palmoplantar keratoderma | Enrichment | KRT6C | 1.64 |
| 234 | Immune dysregulation, neurodevelopmental defects, and colitis | Enrichment | ITGAV | 1.64 |
| 235 | Zebra body myopathy | Enrichment | ACTA1 | 1.64 |
| 236 | Infantile lad-like disease due to rac2 deficiency | Enrichment | RAC2 | 1.64 |
| 237 | Acoustic neuroma | Enrichment | NF2 | 1.64 |
| 238 | Congenital smooth muscle hamartoma | Enrichment | ACTB | 1.64 |
| 239 | Capillary leak syndrome | Enrichment | TLN1 | 1.64 |
| 240 | Dyt1 early-onset isolated dystonia | Enrichment | TOR1A | 1.64 |
| 241 | Reticular dysgenesis-like severe combined immunodeficiency | Enrichment | RAC2 | 1.64 |
| 242 | Nocarh syndrome | Enrichment | CDC42 | 1.64 |
| 243 | Developmental malformations-deafness-dystonia syndrome | Enrichment | ACTB | 1.64 |
| 244 | Qualitative or quantitative defects of plectin | Enrichment | PLEC | 1.64 |
| 245 | Autosomal dominant nonsyndromic hearing loss 22 | Enrichment | MYO6 | 1.64 |
| 246 | Infection-induced acute-onset axonal neuropathy | Enrichment | RCC1 | 1.64 |
| 247 | Autosomal recessive epidermolytic ichthyosis | Enrichment | KRT10 | 1.64 |
| 248 | Distal monosomy 12p | Enrichment | ERC1 | 1.64 |
| 249 | Lmna-related cardiocutaneous progeria syndrome | Enrichment | LMNA | 1.64 |
| 250 | X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome | Enrichment | FLNA | 1.64 |
| 251 | Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome | Enrichment | ERLIN2 | 1.64 |
| 252 | Lissencephaly due to lis1 mutation | Enrichment | PAFAH1B1 | 1.64 |
| 253 | Spastic paraplegia 3a | Enrichment | ATL1 | 1.64 |
| 254 | Actin-accumulation myopathy | Enrichment | ACTA1 | 1.64 |
| 255 | Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom | Enrichment | RAC1 | 1.64 |
| 256 | Autosomal semi-dominant severe lipodystrophic laminopathy | Enrichment | LMNA | 1.64 |
| 257 | Premature aging | Enrichment | VIM | 1.64 |
| 258 | Myopathic intestinal pseudoobstruction | Enrichment | ACTG2 | 1.64 |
| 259 | Rac2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndrome | Enrichment | RAC2 | 1.64 |
| 260 | Encephalopathy due to mitochondrial and peroxisomal fission defect | Enrichment | DNM1L | 1.64 |
| 261 | Actg2 visceral myopathy | Enrichment | ACTG2 | 1.64 |
| 262 | Autosomal recessive axonal hereditary motor and sensory neuropathy | Enrichment | LMNA | 1.64 |
| 263 | Laminopathy | Enrichment | LMNA | 1.64 |
| 264 | Thrombocytopenia | Enrichment | ACTN1, ITGA2B, MYH9, WAS | 1.63 |
| 265 | Frontotemporal dementia 1 | Enrichment | DCTN1, MAPT | 1.61 |
| 266 | Autosomal dominant non-syndromic intellectual disability | Enrichment | CLTC, DPYSL2, PPP3CA, RAB11A | 1.58 |
| 267 | Cardiac conduction defect | Enrichment | FLNC, LMNA | 1.53 |
| 268 | Meningioma | Enrichment | BAP1, NF2 | 1.53 |
| 269 | Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant | Enrichment | JUP, LMNA | 1.53 |
| 270 | Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant | Enrichment | JUP, LMNA | 1.53 |
| 271 | Rare autosomal dominant non-syndromic sensorineural deafness type dfna | Enrichment | ACTG1, MYH14, MYH9, MYO6 | 1.52 |
| 272 | Rare genetic deafness | Enrichment | ACTG1, DIAPH1, MYH9, MYO6, RDX | 1.47 |
| 273 | Neural tube defects | Enrichment | ITGB1, SCRIB | 1.47 |
| 274 | Alzheimer's disease | Enrichment | MAPT, VCP | 1.47 |
| 275 | Undetermined early-onset epileptic encephalopathy | Enrichment | CLTC, DNM1, LIMK1, PPP3CA | 1.42 |
| 276 | Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant | Enrichment | JUP, LMNA | 1.41 |
| 277 | Genetic steroid-resistant nephrotic syndrome | Enrichment | ACTN4, ARHGDIA, CD2AP | 1.38 |
| 278 | Leukocyte adhesion deficiency, type i | Enrichment | ITGB2 | 1.35 |
| 279 | Epidermolysis bullosa simplex 5a, ogna type | Enrichment | PLEC | 1.35 |
| 280 | Ichthyosis hystrix, lambert type | Enrichment | KRT10 | 1.35 |
| 281 | Cardiomyopathy, familial restrictive, 1 | Enrichment | TNNI3 | 1.35 |
| 282 | Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly | Enrichment | CEP55 | 1.35 |
| 283 | Epidermolysis bullosa simplex 5b, with muscular dystrophy | Enrichment | PLEC | 1.35 |
| 284 | Visceral neuropathy, familial, 1, autosomal recessive | Enrichment | FLNA | 1.35 |
| 285 | Mandibuloacral dysplasia with type a lipodystrophy | Enrichment | LMNA | 1.35 |
| 286 | Intellectual developmental disorder, x-linked, syndromic, raymond type | Enrichment | SPTAN1 | 1.35 |
| 287 | Neutropenia, severe congenital, x-linked | Enrichment | WAS | 1.35 |
| 288 | Otopalatodigital syndrome, type ii | Enrichment | FLNA | 1.35 |
| 289 | Melnick-needles syndrome | Enrichment | FLNA | 1.35 |
| 290 | Cataract 35 | Enrichment | MYH9 | 1.35 |
| 291 | Wiskott-aldrich syndrome | Enrichment | WAS | 1.35 |
| 292 | Frontometaphyseal dysplasia 1 | Enrichment | FLNA | 1.35 |
| 293 | Myopathy, x-linked, with postural muscle atrophy | Enrichment | EMD | 1.35 |
| 294 | Epidermolysis bullosa simplex 1d, generalized, intermediate or severe, autosomal recessive | Enrichment | KRT5 | 1.35 |
| 295 | Amyotrophic lateral sclerosis 6 with or without frontotemporal dementia | Enrichment | VCP | 1.35 |
| 296 | Aortic aneurysm, familial thoracic 2 | Enrichment | ACTA2 | 1.35 |
| 297 | Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis | Enrichment | CLDN1 | 1.35 |
| 298 | Cardiomyopathy, dilated, 1r | Enrichment | ACTC1 | 1.35 |
| 299 | Lipomatosis, multiple symmetric, with or without axonal peripheral neuropathy | Enrichment | LMNB2 | 1.35 |
| 300 | Schwannomatosis 1 | Enrichment | NF2 | 1.35 |
| 301 | Pick disease of brain | Enrichment | MAPT | 1.35 |
| 302 | Epidermolysis bullosa simplex 2e, with migratory circinate erythema | Enrichment | KRT5 | 1.35 |
| 303 | Heart-hand syndrome, slovenian type | Enrichment | LMNA | 1.35 |
| 304 | Deafness, autosomal dominant 20 | Enrichment | ACTG1 | 1.35 |
| 305 | Cardiomyopathy, familial hypertrophic, 11 | Enrichment | ACTC1 | 1.35 |
| 306 | Smooth muscle dysfunction syndrome | Enrichment | ACTA2 | 1.35 |
| 307 | Charcot-marie-tooth disease, axonal, type 2b1 | Enrichment | LMNA | 1.35 |
| 308 | Melanoma, cutaneous malignant 6 | Enrichment | KLC1 | 1.35 |
| 309 | Primary lateral sclerosis, juvenile | Enrichment | ERLIN2 | 1.35 |
| 310 | Leukocyte adhesion deficiency, type iii | Enrichment | ITGB2 | 1.35 |
| 311 | Lissencephaly 1 | Enrichment | PAFAH1B1 | 1.35 |
| 312 | Aortic aneurysm, familial thoracic 6 | Enrichment | ACTA2 | 1.35 |
| 313 | Baraitser-winter syndrome 2 | Enrichment | ACTG1 | 1.35 |
| 314 | Cardiomyopathy, dilated, with hypergonadotropic hypogonadism | Enrichment | LMNA | 1.35 |
| 315 | Hallermann-streiff syndrome | Enrichment | GJA1 | 1.35 |
| 316 | Cardiomyopathy, dilated, 1i | Enrichment | DES | 1.35 |
| 317 | Cardiomyopathy, familial hypertrophic, 25 | Enrichment | TNNI3 | 1.35 |
| 318 | Moyamoya disease 5 | Enrichment | ACTA2 | 1.35 |
| 319 | Cardiomyopathy, dilated, 1dd | Enrichment | TNNT2 | 1.35 |
| 320 | Diarrhea 5, with tufting enteropathy, congenital | Enrichment | EPCAM | 1.35 |
| 321 | Muscular dystrophy, limb-girdle, autosomal recessive 3 | Enrichment | TUBA1A | 1.35 |
| 322 | Muscular dystrophy, limb-girdle, autosomal recessive 17 | Enrichment | PLEC | 1.35 |
| 323 | Syndactyly, type iii | Enrichment | GJA1 | 1.35 |
| 324 | Syndactyly, type v | Enrichment | GJA1 | 1.35 |
| 325 | Cardiomyopathy, dilated, 1ff | Enrichment | TNNI3 | 1.35 |
| 326 | Atrial septal defect 5 | Enrichment | ACTC1 | 1.35 |
| 327 | Encephalopathy, acute, infection-induced 10 | Enrichment | TPT1 | 1.35 |
| 328 | Cortical dysplasia, complex, with other brain malformations 4 | Enrichment | TUBG1 | 1.35 |
| 329 | Sinoatrial node disease | Enrichment | CORO1A | 1.35 |
| 330 | Genitourinary and/or brain malformation syndrome | Enrichment | PPP1R12A | 1.35 |
| 331 | Restrictive dermopathy 2 | Enrichment | LMNA | 1.35 |
| 332 | Blepharocheilodontic syndrome 2 | Enrichment | CTNND1 | 1.35 |
| 333 | Intellectual developmental disorder, autosomal dominant 48 | Enrichment | RAC1 | 1.35 |
| 334 | Emery-dreifuss muscular dystrophy 3, autosomal recessive | Enrichment | LMNA | 1.35 |
| 335 | Charcot-marie-tooth disease, axonal, type 2dd | Enrichment | ATP1A1 | 1.35 |
| 336 | Epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive | Enrichment | KRT5 | 1.35 |
| 337 | Cardiac valvular dysplasia, x-linked | Enrichment | FLNA | 1.35 |
| 338 | Epidermolytic hyperkeratosis 2a, autosomal dominant | Enrichment | KRT10 | 1.35 |
| 339 | Immunodeficiency 66 | Enrichment | MRTFA | 1.35 |
| 340 | Autosomal recessive limb-girdle muscular dystrophy type 2d | Enrichment | TUBA1A | 1.35 |
| 341 | Craniometaphyseal dysplasia | Enrichment | GJA1 | 1.35 |
| 342 | Lissencephaly 3 | Enrichment | TUBA1A | 1.35 |
| 343 | Autosomal recessive limb-girdle muscular dystrophy type 2q | Enrichment | PLEC | 1.35 |
| 344 | Progressive familial heart block | Enrichment | DES | 1.35 |
| 345 | Cataract 30 | Enrichment | VIM | 1.35 |
| 346 | Cardiovascular system disease | Enrichment | FLNC | 1.35 |
| 347 | Lipodystrophy, familial partial, type 1 | Enrichment | LMNA | 1.35 |
| 348 | Developmental and epileptic encephalopathy 96 | Enrichment | NSF | 1.35 |
| 349 | Macrocephaly, dysmorphic facies, and psychomotor retardation | Enrichment | ERC1 | 1.35 |
| 350 | Hypomagnesemia, seizures, and impaired intellectual development 2 | Enrichment | ATP1A1 | 1.35 |
| 351 | Epidermolytic acanthoma | Enrichment | KRT10 | 1.35 |
| 352 | Ocular melanoma | Enrichment | BAP1 | 1.35 |
| 353 | Cortical dysplasia, complex, with other brain malformations 1 | Enrichment | TUBB3 | 1.35 |
| 354 | Intellectual developmental disorder, autosomal dominant 60, with seizures | Enrichment | AP2M1 | 1.35 |
| 355 | Pseudosarcomatous fibromatosis | Enrichment | MYH9 | 1.35 |
| 356 | Immune system disease | Enrichment | CDC42 | 1.35 |
| 357 | Autosomal dominant primary microcephaly | Enrichment | LMNB1 | 1.35 |
| 358 | Megacystis-microcolon-intestinal hypoperistalsis syndrome 4 | Enrichment | MYL9 | 1.35 |
| 359 | Kury-isidor syndrome | Enrichment | BAP1 | 1.35 |
| 360 | Epidermolysis bullosa simplex 2a, generalized severe | Enrichment | KRT5 | 1.35 |
| 361 | Multiple benign circumferential skin creases on limbs | Enrichment | TUBB | 1.35 |
| 362 | Combined deficiency of factor v and factor viii | Enrichment | LMAN1 | 1.35 |
| 363 | Distal hereditary motor neuropathy type 7 | Enrichment | DCTN1 | 1.35 |
| 364 | Familial partial lipodystrophy | Enrichment | LMNA | 1.35 |
| 365 | Charcot-marie-tooth disease type 2b1 | Enrichment | LMNA | 1.35 |
| 366 | Continuous spikes and waves during sleep | Enrichment | TUBA1A | 1.35 |
| 367 | X-linked emery-dreifuss muscular dystrophy | Enrichment | EMD | 1.35 |
| 368 | Intestinal obstruction | Enrichment | ACTG2 | 1.35 |
| 369 | Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) | Enrichment | MRTFA | 1.35 |
| 370 | Spastic paraplegia-paget disease of bone syndrome | Enrichment | VCP | 1.35 |
| 371 | Wolff-parkinson-white syndrome | Enrichment | JUP, TNNT2 | 1.30 |
| 372 | Fetal akinesia deformation sequence 1 | Enrichment | ACTA1, NUP88, TUBA1A | 1.29 |
| 373 | Alzheimer disease, familial, 1 | Enrichment | MAPT, VCP | 1.25 |
| 374 | Hypertension, essential | Enrichment | ADD1, ATP1B1 | 1.25 |
| 375 | Prune belly syndrome | Enrichment | FLNA | 1.18 |
| 376 | Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss | Enrichment | MYH9 | 1.18 |
| 377 | Larsen syndrome | Enrichment | FLNB | 1.18 |
| 378 | Mesothelioma, malignant | Enrichment | BAP1 | 1.18 |
| 379 | Arterial tortuosity syndrome | Enrichment | FLNA | 1.18 |
| 380 | Bleeding disorder, platelet-type, 16 | Enrichment | ITGA2B | 1.18 |
| 381 | Nail disorder, nonsyndromic congenital, 4 | Enrichment | KRT17 | 1.18 |
| 382 | Periventricular nodular heterotopia 1 | Enrichment | FLNA | 1.18 |
| 383 | Factor v and factor viii, combined deficiency of, 1 | Enrichment | LMAN1 | 1.18 |
| 384 | Myopathy, myofibrillar, 1 | Enrichment | DES | 1.18 |
| 385 | Restrictive dermopathy 1 | Enrichment | LMNA | 1.18 |
| 386 | Myopathy, myofibrillar, 5 | Enrichment | FLNC | 1.18 |
| 387 | Myopathy, centronuclear, x-linked | Enrichment | DNM2 | 1.18 |
| 388 | Spondylocarpotarsal synostosis syndrome | Enrichment | FLNB | 1.18 |
| 389 | Ichthyosis with confetti | Enrichment | KRT10 | 1.18 |
| 390 | Leber congenital amaurosis 13 | Enrichment | ZFYVE26 | 1.18 |
| 391 | Epidermolysis bullosa, lethal acantholytic | Enrichment | JUP | 1.18 |
| 392 | Congenital short bowel syndrome | Enrichment | FLNA | 1.18 |
| 393 | Ichthyosis, annular epidermolytic, 1 | Enrichment | KRT10 | 1.18 |
| 394 | Adams-oliver syndrome 1 | Enrichment | ARHGAP31 | 1.18 |
| 395 | Lipodystrophy, familial partial, type 2 | Enrichment | LMNA | 1.18 |
| 396 | Miller-dieker lissencephaly syndrome | Enrichment | PAFAH1B1 | 1.18 |
| 397 | Myopathy, distal, 4 | Enrichment | FLNC | 1.18 |
| 398 | Muscular dystrophy, congenital, lmna-related | Enrichment | LMNA | 1.18 |
| 399 | Chromosome 17p13.3, centromeric, duplication syndrome | Enrichment | PAFAH1B1 | 1.18 |
| 400 | Tumor predisposition syndrome 1 | Enrichment | BAP1 | 1.18 |
| 401 | Immunodeficiency 8 with lymphoproliferation | Enrichment | CORO1A | 1.18 |
| 402 | Short-rib thoracic dysplasia 11 with or without polydactyly | Enrichment | SPTAN1 | 1.18 |
| 403 | Intellectual developmental disorder, autosomal dominant 56 | Enrichment | CLTC | 1.18 |
| 404 | Developmental and epileptic encephalopathy 31b | Enrichment | DNM1 | 1.18 |
| 405 | Epidermolysis bullosa simplex 2b, generalized intermediate | Enrichment | KRT5 | 1.18 |
| 406 | Epidermolytic hyperkeratosis 2b, autosomal recessive | Enrichment | KRT10 | 1.18 |
| 407 | Coronin-1a deficiency | Enrichment | CORO1A | 1.18 |
| 408 | Inclusion body myopathy with paget disease of bone and frontotemporal dementia | Enrichment | VCP | 1.18 |
| 409 | Torsion dystonia 1 | Enrichment | TOR1A | 1.18 |
| 410 | Epidermolysis bullosa simplex 5d, generalized intermediate, autosomal recessive | Enrichment | PLEC | 1.18 |
| 411 | Frontometaphyseal dysplasia | Enrichment | FLNA | 1.18 |
| 412 | Cellular ependymoma | Enrichment | NF2 | 1.18 |
| 413 | Tanycytic ependymoma | Enrichment | NF2 | 1.18 |
| 414 | Papillary ependymoma | Enrichment | NF2 | 1.18 |
| 415 | Epidermolysis bullosa simplex 2c, localized | Enrichment | KRT5 | 1.18 |
| 416 | Bap1 tumor predisposition syndrome | Enrichment | BAP1 | 1.18 |
| 417 | Restrictive dermopathy | Enrichment | LMNA | 1.18 |
| 418 | Spindle cell sarcoma | Enrichment | NF2 | 1.18 |
| 419 | Clear cell ependymoma | Enrichment | NF2 | 1.18 |
| 420 | Annular epidermolytic ichthyosis | Enrichment | KRT10 | 1.18 |
| 421 | Autosomal dominant optic atrophy, classic form | Enrichment | DNM1L | 1.18 |
| 422 | Hyperpigmentation of the skin | Enrichment | USP9X | 1.18 |
| 423 | Autosomal dominant epidermolytic ichthyosis | Enrichment | KRT10 | 1.18 |
| 424 | West syndrome | Enrichment | DNM1, SPTAN1, TUBA1A | 1.11 |
| 425 | Familial thoracic aortic aneurysm and aortic dissection | Enrichment | ACTA2, FLNA, PRKG1 | 1.11 |
| 426 | Centronuclear myopathy | Enrichment | ACTA1, DNM2 | 1.09 |
| 427 | Epidermolysis bullosa simplex 1b, generalized intermediate | Enrichment | KRT5 | 1.06 |
| 428 | Hutchinson-gilford progeria syndrome | Enrichment | LMNA | 1.06 |
| 429 | Dowling-degos disease 1 | Enrichment | KRT5 | 1.06 |
| 430 | Diffuse gastric and lobular breast cancer syndrome | Enrichment | CDH1 | 1.06 |
| 431 | Fucosidosis | Enrichment | DCX | 1.06 |
| 432 | Nemaline myopathy 2 | Enrichment | ACTA1 | 1.06 |
| 433 | Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 | Enrichment | ACTG2 | 1.06 |
| 434 | Autoimmune lymphoproliferative syndrome | Enrichment | ACTA2 | 1.06 |
| 435 | Microtia-anotia | Enrichment | LMNA | 1.06 |
| 436 | Epidermolysis bullosa simplex 5c, with pyloric atresia | Enrichment | PLEC | 1.06 |
| 437 | Aminoacylase 1 deficiency | Enrichment | ACTB | 1.06 |
| 438 | Cardiomyopathy, familial hypertrophic, 26 | Enrichment | FLNC | 1.06 |
| 439 | Congenital generalized lipodystrophy | Enrichment | CAVIN1 | 1.06 |
| 440 | Macular dystrophy with or without cone dysfunction | Enrichment | ZFYVE26 | 1.06 |
| 441 | Dowling-degos disease | Enrichment | KRT5 | 1.06 |
| 442 | Epidermolysis bullosa simplex generalized type | Enrichment | KRT5 | 1.06 |
| 443 | Tubulinopathy | Enrichment | TUBA1A | 1.06 |
| 444 | Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 | Enrichment | CLTC | 1.06 |
| 445 | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | Enrichment | CDC42 | 1.06 |
| 446 | Epidermolytic nevus | Enrichment | KRT10 | 1.06 |
| 447 | Epidermolytic hyperkeratosis | Enrichment | KRT10 | 1.06 |
| 448 | Charcot-marie-tooth hereditary neuropathy | Enrichment | SPTAN1 | 1.06 |
| 449 | Knobloch syndrome | Enrichment | PAK2 | 1.06 |
| 450 | Full schwannomatosis | Enrichment | NF2 | 1.06 |
| 451 | Intermediate nemaline myopathy | Enrichment | ACTA1 | 1.06 |
| 452 | Benign ependymoma | Enrichment | NF2 | 1.06 |
| 453 | Pseudomyogenic hemangioendothelioma | Enrichment | ACTB | 1.06 |
| 454 | Body mass index quantitative trait locus 11 | Enrichment | DIXDC1, DNM1L, MYH9 | 0.98 |
| 455 | Hemifacial hyperplasia | Enrichment | FLNC | 0.96 |
| 456 | Epidermolytic hyperkeratosis 1 | Enrichment | KRT10 | 0.96 |
| 457 | Dementia, lewy body | Enrichment | VCP | 0.96 |
| 458 | Visceral myopathy 1 | Enrichment | ACTG2 | 0.96 |
| 459 | Epidermolysis bullosa simplex 1c, localized | Enrichment | KRT5 | 0.96 |
| 460 | Smith-magenis syndrome | Enrichment | FLII | 0.96 |
| 461 | Multiple endocrine neoplasia, type iia | Enrichment | KIF1B | 0.96 |
| 462 | Congenital myopathy 3 with rigid spine | Enrichment | ACTA1 | 0.96 |
| 463 | Deafness, autosomal recessive 63 | Enrichment | MYH9 | 0.96 |
| 464 | Knobloch syndrome 1 | Enrichment | PAK2 | 0.96 |
| 465 | Mosaic variegated aneuploidy syndrome 1 | Enrichment | PAK6 | 0.96 |
| 466 | Developmental and epileptic encephalopathy 31a | Enrichment | DNM1 | 0.96 |
| 467 | Heart conduction disease | Enrichment | FLNC | 0.96 |
| 468 | Congenital ptosis | Enrichment | MYH10 | 0.96 |
| 469 | Autosomal recessive limb-girdle muscular dystrophy type 2b | Enrichment | LMNA | 0.96 |
| 470 | Epidermolysis bullosa | Enrichment | KRT5 | 0.96 |
| 471 | Aplasia cutis congenita | Enrichment | PLEC | 0.96 |
| 472 | Cleft upper lip | Enrichment | GJA1 | 0.96 |
| 473 | Dementia | Enrichment | MAPT | 0.96 |
| 474 | Coloboma of choroid and retina | Enrichment | ACTG1 | 0.96 |
| 475 | Genetic motor neuron disease | Enrichment | DCTN1 | 0.96 |
| 476 | Diffuse cutaneous systemic sclerosis | Enrichment | CAV1 | 0.96 |
| 477 | Severe congenital nemaline myopathy | Enrichment | ACTA1 | 0.96 |
| 478 | Tetralogy of fallot | Enrichment | FLNC, TPM1 | 0.93 |
| 479 | Auditory neuropathy | Enrichment | DIAPH1, NEFL | 0.93 |
| 480 | Spastic ataxia | Enrichment | FLNC, SPTAN1, TUBB3 | 0.92 |
| 481 | Atrial septal defect 1 | Enrichment | TPM1 | 0.89 |
| 482 | Melanoma, uveal | Enrichment | BAP1 | 0.89 |
| 483 | Dystonia 11, myoclonic | Enrichment | TOR1A | 0.89 |
| 484 | Myopathy, centronuclear, 1 | Enrichment | DNM2 | 0.89 |
| 485 | Emery-dreifuss muscular dystrophy 2, autosomal dominant | Enrichment | LMNA | 0.89 |
| 486 | Hemihyperplasia, isolated | Enrichment | RHOA | 0.89 |
| 487 | Hemangioma, capillary infantile | Enrichment | MYH9 | 0.89 |
| 488 | Pendred syndrome | Enrichment | DIAPH1 | 0.89 |
| 489 | Anterior segment dysgenesis 5 | Enrichment | ARHGAP35 | 0.89 |
| 490 | Inflammatory myofibroblastic tumor | Enrichment | CLTC | 0.89 |
| 491 | Intestinal pseudo-obstruction | Enrichment | ACTG2 | 0.89 |
| 492 | Patent ductus arteriosus | Enrichment | FLNA | 0.89 |
| 493 | Clear cell renal cell carcinoma | Enrichment | BAP1 | 0.89 |
| 494 | Early myoclonic encephalopathy | Enrichment | TUBA1A | 0.89 |
| 495 | Limited scleroderma | Enrichment | CAV1 | 0.89 |
| 496 | Fetomaternal alloimmune thrombocytopenia 1 | Enrichment | ITGA2B | 0.89 |
| 497 | Inherited arrhythmogenic cardiomyopathy | Enrichment | FLNC | 0.89 |
| 498 | Typical nemaline myopathy | Enrichment | ACTA1 | 0.89 |
| 499 | Differentiated thyroid carcinoma | Enrichment | ERC1, PCM1 | 0.85 |
| 500 | Rare autosomal recessive non-syndromic sensorineural deafness type dfnb | Enrichment | GJA1, MYH9, MYO6, RDX | 0.84 |
| 501 | Bethlem myopathy 1a | Enrichment | LMNA | 0.83 |
| 502 | Polymicrogyria, bilateral perisylvian, x-linked | Enrichment | TUBA1A | 0.83 |
| 503 | Glanzmann thrombasthenia 1 | Enrichment | ITGA2B | 0.83 |
| 504 | Noonan syndrome 3 | Enrichment | CLTC | 0.83 |
| 505 | Adams-oliver syndrome | Enrichment | ARHGAP31 | 0.83 |
| 506 | Hereditary sensory and autonomic neuropathy type 1 | Enrichment | ATL1 | 0.83 |
| 507 | Renal cell carcinoma with mit translocations | Enrichment | CLTC | 0.83 |
| 508 | Focal epilepsy | Enrichment | SPTAN1 | 0.83 |
| 509 | Vesicoureteral reflux | Enrichment | AFAP1L2 | 0.83 |
| 510 | Childhood-onset nemaline myopathy | Enrichment | ACTA1 | 0.83 |
| 511 | Complex neurodevelopmental disorder | Enrichment | BAP1, MYH10, PAK3, RAC3, RALA | 0.82 |
| 512 | Connective tissue disease | Enrichment | ACTA2, FLNB | 0.79 |
| 513 | Peripheral nervous system disease | Enrichment | LMNA, NEFL | 0.79 |
| 514 | Neuropathy | Enrichment | LMNA, NEFL | 0.79 |
| 515 | Glioma susceptibility 1 | Enrichment | BAP1 | 0.77 |
| 516 | Erythrokeratodermia variabilis et progressiva 1 | Enrichment | GJA1 | 0.77 |
| 517 | Fanconi anemia, complementation group c | Enrichment | FLNA | 0.77 |
| 518 | Ewing sarcoma | Enrichment | BAP1 | 0.77 |
| 519 | Lennox-gastaut syndrome | Enrichment | DNM1 | 0.77 |
| 520 | Cryptorchidism | Enrichment | TUBA1A | 0.77 |
| 521 | Congenital muscular dystrophy | Enrichment | LMNA | 0.77 |
| 522 | Mosaic variegated aneuploidy syndrome | Enrichment | PAK6 | 0.77 |
| 523 | Neuroblastoma | Enrichment | KIF1B | 0.77 |
| 524 | Hypoplastic left heart syndrome | Enrichment | GJA1 | 0.77 |
| 525 | Male infertility due to globozoospermia | Enrichment | GOPC | 0.77 |
| 526 | Severe combined immunodeficiency | Enrichment | CORO1A, STK4 | 0.76 |
| 527 | Tracheoesophageal fistula with or without esophageal atresia | Enrichment | ADD1 | 0.73 |
| 528 | Cryptorchidism, unilateral or bilateral | Enrichment | TUBA1A | 0.73 |
| 529 | Arrhythmogenic right ventricular dysplasia, familial, 9 | Enrichment | LMNA | 0.73 |
| 530 | Myoclonic-atonic epilepsy | Enrichment | AP2M1 | 0.73 |
| 531 | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | Enrichment | RAC1 | 0.73 |
| 532 | Bilateral perisylvian polymicrogyria | Enrichment | TUBA1A | 0.73 |
| 533 | Colonic benign neoplasm | Enrichment | EPCAM | 0.73 |
| 534 | Juvenile amyotrophic lateral sclerosis | Enrichment | ERLIN1 | 0.73 |
| 535 | Non-syndromic x-linked intellectual disability | Enrichment | ARHGEF6, USP9X | 0.71 |
| 536 | Developmental and epileptic encephalopathy | Enrichment | SEC24C, SPTAN1 | 0.71 |
| 537 | Amyotrophic lateral sclerosis 1 | Enrichment | DCTN1 | 0.69 |
| 538 | Cat eye syndrome | Enrichment | ACTG1 | 0.69 |
| 539 | Cataract 30, multiple types | Enrichment | VIM | 0.69 |
| 540 | Lynch syndrome 1 | Enrichment | EPCAM | 0.69 |
| 541 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 | Enrichment | VCP | 0.69 |
| 542 | Peters-plus syndrome | Enrichment | ARHGAP35 | 0.69 |
| 543 | Neurodegeneration with brain iron accumulation | Enrichment | REPS1 | 0.69 |
| 544 | Isolated tracheo-esophageal fistula | Enrichment | ADD1 | 0.69 |
| 545 | Congenital nervous system abnormality | Enrichment | ATL1, DCX, ERLIN2, TUBA1A | 0.66 |
| 546 | Nervous system disease | Enrichment | ATL1, DCX, ERLIN2, TUBA1A | 0.66 |
| 547 | Cerebral palsy | Enrichment | ARHGAP31, TUBA1A | 0.65 |
| 548 | Meningioma, familial | Enrichment | NF2 | 0.65 |
| 549 | Combined immunodeficiency | Enrichment | TFRC | 0.65 |
| 550 | Combined t cell and b cell immunodeficiency | Enrichment | TFRC | 0.65 |
| 551 | Heritable pulmonary arterial hypertension | Enrichment | CAV1 | 0.65 |
| 552 | Combined t and b cell immunodeficiency | Enrichment | TFRC | 0.65 |
| 553 | Muscular dystrophy, limb-girdle, autosomal recessive 2 | Enrichment | LMNA | 0.62 |
| 554 | Digeorge syndrome | Enrichment | SEC24C | 0.62 |
| 555 | Juvenile myelomonocytic leukemia | Enrichment | RRAS | 0.62 |
| 556 | Breast cancer | Enrichment | CDH1, EPCAM, KLC1 | 0.62 |
| 557 | Distal arthrogryposis | Enrichment | ACTA1, ACTC1 | 0.61 |
| 558 | Gastric cancer | Enrichment | CDH1, EPCAM | 0.59 |
| 559 | Microphthalmia/coloboma 12 | Enrichment | MYH10 | 0.59 |
| 560 | Chromosome 1p36 deletion syndrome | Enrichment | PDPN | 0.59 |
| 561 | Stereotypic movement disorder | Enrichment | DNM1 | 0.59 |
| 562 | Hereditary breast carcinoma | Enrichment | CDH1, EPCAM | 0.58 |
| 563 | Multiple sclerosis | Enrichment | PLEC | 0.56 |
| 564 | Lung cancer susceptibility 3 | Enrichment | ACTA2 | 0.56 |
| 565 | Periventricular nodular heterotopia | Enrichment | FLNA | 0.56 |
| 566 | Cox deficiency, benign infantile mitochondrial myopathy | Enrichment | COX4I1 | 0.56 |
| 567 | Cleft lip/palate | Enrichment | CDH1 | 0.56 |
| 568 | Coloboma of macula | Enrichment | MYH10 | 0.54 |
| 569 | Renal cell carcinoma, nonpapillary | Enrichment | BAP1 | 0.54 |
| 570 | Congenital myopathy 4a, autosomal dominant | Enrichment | ACTA1 | 0.54 |
| 571 | Corpus callosum, agenesis of | Enrichment | TUBA1A | 0.54 |
| 572 | Lynch syndrome | Enrichment | EPCAM | 0.54 |
| 573 | Isolated corpus callosum agenesis | Enrichment | TUBA1A | 0.54 |
| 574 | Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome | Enrichment | TUBA1A | 0.54 |
| 575 | Microcephaly | Enrichment | ACTB, ACTG1, DIAPH1, PAK3 | 0.51 |
| 576 | Hydrocephalus, congenital, 1 | Enrichment | TUBB | 0.51 |
| 577 | Hypertension | Enrichment | MYH9 | 0.51 |
| 578 | Isolated congenital microcephaly | Enrichment | RAB11A | 0.51 |
| 579 | Colorectal cancer | Enrichment | CDH1, EPCAM, PTPN12 | 0.50 |
| 580 | Melanoma, cutaneous malignant 1 | Enrichment | BAP1 | 0.49 |
| 581 | Cleft palate, isolated | Enrichment | FLNA | 0.49 |
| 582 | Dandy-walker syndrome | Enrichment | TUBA1A | 0.49 |
| 583 | Sudden infant death syndrome | Enrichment | TNNI3 | 0.49 |
| 584 | Inherited cancer-predisposing syndrome | Enrichment | BAP1, CDH1, EPCAM, NF2 | 0.45 |
| 585 | Esophageal atresia/tracheoesophageal fistula | Enrichment | ADD1 | 0.45 |
| 586 | Congenital myopathy | Enrichment | ACTA1 | 0.45 |
| 587 | Williams-beuren syndrome | Enrichment | LIMK1 | 0.43 |
| 588 | Maturity-onset diabetes of the young | Enrichment | APPL1 | 0.43 |
| 589 | Autosomal recessive non-syndromic intellectual disability | Enrichment | CLIP1, EZR | 0.42 |
| 590 | Endometrial cancer | Enrichment | CDH1 | 0.42 |
| 591 | Hereditary paraganglioma-pheochromocytoma syndromes | Enrichment | KIF1B | 0.42 |
| 592 | Mitochondrial complex iv deficiency, nuclear type 1 | Enrichment | COX4I1 | 0.40 |
| 593 | Multisystem inflammatory syndrome in children | Enrichment | RAB27A | 0.40 |
| 594 | Noonan syndrome 1 | Enrichment | RRAS | 0.39 |
| 595 | Ear malformation | Enrichment | MYO6 | 0.37 |
| 596 | Parkinson disease, late-onset | Enrichment | MAPT | 0.37 |
| 597 | Autoinflammatory disease | Enrichment | RAB27A | 0.37 |
| 598 | Muscular dystrophy | Enrichment | LMNA | 0.37 |
| 599 | Pancreatic cancer | Enrichment | PALLD | 0.36 |
| 600 | Jeune thoracic dystrophy | Enrichment | SPTAN1 | 0.36 |
| 601 | Hydrops fetalis, nonimmune | Enrichment | ACTA1 | 0.35 |
| 602 | Brugada syndrome | Enrichment | LMNA | 0.35 |
| 603 | Asphyxiating thoracic dystrophy | Enrichment | SPTAN1 | 0.32 |
| 604 | Hirschsprung disease 1 | Enrichment | NUP98 | 0.31 |
| 605 | Prostate cancer | Enrichment | CDH1 | 0.31 |
| 606 | Severe covid-19 | Enrichment | ITGAV | 0.31 |
| 607 | Long qt syndrome | Enrichment | LMNA | 0.29 |
| 608 | Non-immune hydrops fetalis | Enrichment | ACTA1 | 0.29 |
| 609 | Lung cancer | Enrichment | ACTA2 | 0.28 |
| 610 | Short-rib thoracic dysplasia 1 with or without polydactyly | Enrichment | SPTAN1 | 0.27 |
| 611 | Male infertility | Enrichment | CLDN2 | 0.27 |
| 612 | Cakut | Enrichment | ACTG1 | 0.27 |
| 613 | Dystonia | Enrichment | TOR1A | 0.26 |
| 614 | Eye disease | Enrichment | ZFYVE26 | 0.26 |
| 615 | Leukemia, acute myeloid | Enrichment | LPP | 0.22 |
| 616 | Epilepsy | Enrichment | DIAPH1 | 0.22 |
| 617 | Benign epilepsy with centrotemporal spikes | Enrichment | SPTAN1 | 0.21 |
| 618 | Centralopathic epilepsy | Enrichment | SPTAN1 | 0.20 |
| 619 | Sensorineural hearing loss | Enrichment | NEFL | 0.17 |
| 620 | Ovarian cancer | Enrichment | CDH1, KIF1B | 0.17 |
| 621 | Hypertelorism | Enrichment | MYH10 | 0.16 |
| 622 | Myeloma, multiple | Enrichment | BAP1 | 0.14 |
| 623 | Schizophrenia | Enrichment | LPP | 0.13 |
| 624 | Deafness, autosomal recessive | Enrichment | MYH9 | 0.12 |
| 625 | Autosomal recessive nonsyndromic deafness | Enrichment | MYH9 | 0.11 |
| 626 | Cone-rod dystrophy 2 | Enrichment | ADAM9 | 0.10 |
| 627 | Mitochondrial disease | Enrichment | DNM1L | 0.06 |
| 628 | Leber plus disease | Enrichment | ZFYVE26 | 0.05 |
| 629 | Autism spectrum disorder | Enrichment | MARK2 | 0.04 |
| 630 | Retinitis pigmentosa | Enrichment | ADAM9, ZFYVE26 | 0.02 |
| 631 | Hereditary retinal dystrophy | Enrichment | ADAM9, ZFYVE26 | 0.00 |
| 632 | Fundus dystrophy | Enrichment | ADAM9, ZFYVE26 | 0.00 |