| 1 | Non-syndromic genetic deafness | Enrichment | ACTG1, CDH23, KCNQ4, MYO15A, MYO3A, MYO7A, OTOF, RDX, STRC, TMC1, TRIOBP | 16.00 |
| 2 | Deafness, autosomal recessive | Enrichment | CABP2, CDH23, CIB2, CLIC5, EPS8, ESPN, GRXCR1, GRXCR2, LHFPL5, MYH9, MYO15A, MYO7A, OTOF, PCDH15, PJVK, TMC1, TMIE, TPRN, TRIOBP, USH1C, USH1G, WHRN | 12.52 |
| 3 | Rare genetic deafness | Enrichment | ACTG1, CDH23, CIB2, ESPN, GRXCR1, KCNQ4, MYH9, MYO15A, MYO7A, OTOF, PCDH15, PJVK, RDX, STRC, TMC1, TPRN, TRIOBP, USH1C, WHRN | 11.85 |
| 4 | Nonsyndromic hearing loss | Enrichment | ACTG1, CDH23, KCNQ4, MYO15A, MYO3A, MYO7A, OTOF, PCDH15, RDX, STRC, TMC1, TRIOBP | 11.24 |
| 5 | Ear malformation | Enrichment | CDH23, LHFPL5, MYO15A, MYO7A, OTOF, PCDH15, PJVK, TMC1 | 11.11 |
| 6 | Autosomal recessive nonsyndromic deafness | Enrichment | CABP2, CDH23, CIB2, CLIC5, EPS8, ESPN, GRXCR1, GRXCR2, LHFPL5, MYH9, MYO15A, MYO7A, OTOF, PCDH15, PJVK, TMC1, TMIE, TPRN, TRIOBP, USH1C, USH1G, WHRN | 10.98 |
| 7 | Rare autosomal recessive non-syndromic sensorineural deafness type dfnb | Enrichment | ATP2B2, CABP2, CDH23, CIB2, CLIC5, EPS8, EPS8L2, ESPN, GRXCR1, GRXCR2, LHFPL5, MYH9, MYO15A, MYO3A, MYO7A, OTOF, PCDH15, PJVK, RDX, RIPOR2, STRC, TMC1, TMIE, TPRN, TRIOBP, USH1C, USH1G, WHRN | 10.91 |
| 8 | Rare autosomal dominant non-syndromic sensorineural deafness type dfna | Enrichment | ACTG1, ATP2B2, KCNQ4, MYH9, MYO1C, MYO7A, PLS1, SLC17A8, TMC1 | 10.77 |
| 9 | Usher syndrome, type i | Enrichment | CDH23, CIB2, ESPN, MYO7A, PCDH15, USH1C, USH1G | 10.76 |
| 10 | Usher syndrome | Enrichment | CDH23, MYO7A, PCDH15, USH1C, USH1G, WHRN | 8.51 |
| 11 | Sensorineural hearing loss | Enrichment | CDH23, MYO15A, MYO3A, MYO7A, TMC1, TMIE | 7.49 |
| 12 | Usher syndrome type 2 | Enrichment | CDH23, MYO7A, USH1C, WHRN | 7.14 |
| 13 | Baraitser-winter cerebrofrontofacial syndrome | Enrichment | ACTB, ACTG1 | 4.81 |
| 14 | Deafness, autosomal recessive 3 | Enrichment | MYO15A, OTOF | 4.12 |
| 15 | Hereditary retinal dystrophy | Enrichment | CDH23, CIB2, ESPN, FSCN2, MYO7A, PCDH15, USH1C | 3.85 |
| 16 | Fundus dystrophy | Enrichment | CDH23, CIB2, ESPN, FSCN2, MYO7A, PCDH15, USH1C | 3.85 |
| 17 | Usher syndrome, type id | Enrichment | CDH23, PCDH15 | 3.64 |
| 18 | Deafness, autosomal recessive 12 | Enrichment | ATP2B2, CDH23 | 3.64 |
| 19 | Deafness, autosomal recessive 9 | Enrichment | MYO15A, OTOF | 3.60 |
| 20 | Otof-related hearing loss | Enrichment | MYO15A, OTOF | 3.60 |
| 21 | Auditory neuropathy | Enrichment | MYO7A, OTOF, SLC17A8 | 3.52 |
| 22 | Meniere disease | Enrichment | CDH23, MYO7A | 3.49 |
| 23 | Epilepsy, idiopathic generalized 16 | Enrichment | KCNMA1 | 3.43 |
| 24 | Cerebellar atrophy, developmental delay, and seizures | Enrichment | KCNMA1 | 3.43 |
| 25 | Focal epilepsy | Enrichment | SNAP25, SPTAN1 | 3.28 |
| 26 | Hypertension, diastolic | Enrichment | KCNMB1 | 3.13 |
| 27 | Neurodevelopmental disorder with or without variable movement or behavioral abnormalities | Enrichment | KCNN2 | 3.13 |
| 28 | Dystonia 34, myoclonic | Enrichment | KCNN2 | 3.13 |
| 29 | Liang-wang syndrome | Enrichment | KCNMA1 | 3.13 |
| 30 | Developmental and epileptic encephalopathy | Enrichment | CACNA2D2, SNAP25, SPTAN1 | 3.10 |
| 31 | Paroxysmal nonkinesigenic dyskinesia 3 with or without generalized epilepsy | Enrichment | KCNMA1 | 2.96 |
| 32 | Retinitis pigmentosa | Enrichment | CDH23, FSCN2, MYO7A, PCDH15, USH1C | 2.82 |
| 33 | Microcephaly | Enrichment | ACTB, ACTG1, CASK, SNAP25 | 2.45 |
| 34 | Baraitser-winter syndrome 1 | Enrichment | ACTB | 2.40 |
| 35 | Usher syndrome, type ic | Enrichment | USH1C | 2.40 |
| 36 | Deafness, autosomal recessive 18a | Enrichment | USH1C | 2.40 |
| 37 | Retinitis pigmentosa 30 | Enrichment | FSCN2 | 2.40 |
| 38 | Immunodeficiency 50 | Enrichment | MSN | 2.40 |
| 39 | Deafness, autosomal recessive 2 | Enrichment | MYO7A | 2.40 |
| 40 | Deafness, autosomal recessive 67 | Enrichment | LHFPL5 | 2.40 |
| 41 | Deafness, autosomal recessive 25 | Enrichment | GRXCR1 | 2.40 |
| 42 | Deafness, autosomal recessive 24 | Enrichment | RDX | 2.40 |
| 43 | Deafness, autosomal dominant 17 | Enrichment | MYH9 | 2.40 |
| 44 | Deafness, autosomal recessive 36, with or without vestibular involvement | Enrichment | ESPN | 2.40 |
| 45 | Deafness, autosomal recessive 31 | Enrichment | WHRN | 2.40 |
| 46 | Deafness, autosomal recessive 59 | Enrichment | PJVK | 2.40 |
| 47 | Developmental and epileptic encephalopathy 5 | Enrichment | SPTAN1 | 2.40 |
| 48 | Chromosome 20q11-q12 deletion syndrome | Enrichment | EPB41L1 | 2.40 |
| 49 | Deafness, autosomal recessive 84b | Enrichment | OTOGL | 2.40 |
| 50 | Deafness, autosomal recessive 101 | Enrichment | GRXCR2 | 2.40 |
| 51 | Deafness, autosomal recessive 6 | Enrichment | TMIE | 2.40 |
| 52 | Deafness, autosomal recessive 103 | Enrichment | CLIC5 | 2.40 |
| 53 | Deafness, autosomal dominant 82 | Enrichment | ATP2B2 | 2.40 |
| 54 | Deafness, autosomal recessive 61 | Enrichment | SLC26A5 | 2.40 |
| 55 | Congenital smooth muscle hamartoma, with or without hemihypertrophy | Enrichment | ACTB | 2.40 |
| 56 | Deafness, autosomal dominant 76 | Enrichment | PLS1 | 2.40 |
| 57 | Developmental delay, impaired speech, and behavioral abnormalities | Enrichment | SPTBN1 | 2.40 |
| 58 | Deafness, autosomal dominant 11 | Enrichment | MYO7A | 2.40 |
| 59 | Deafness, autosomal dominant 21 | Enrichment | RIPOR2 | 2.40 |
| 60 | Deafness, autosomal recessive 30 | Enrichment | MYO3A | 2.40 |
| 61 | Becker nevus syndrome | Enrichment | ACTB | 2.40 |
| 62 | Dystonia-deafness syndrome 1 | Enrichment | ACTB | 2.40 |
| 63 | Usher syndrome, type ij | Enrichment | CIB2 | 2.40 |
| 64 | Deafness, autosomal recessive 18b | Enrichment | OTOG | 2.40 |
| 65 | Deafness, autosomal recessive 102 | Enrichment | EPS8 | 2.40 |
| 66 | Usher syndrome, type iid | Enrichment | WHRN | 2.40 |
| 67 | Deafness, autosomal recessive 106 | Enrichment | EPS8L2 | 2.40 |
| 68 | Thrombocytopenia 8, with dysmorphic features and developmental delay | Enrichment | ACTB | 2.40 |
| 69 | Deafness, autosomal dominant 90 | Enrichment | MYO3A | 2.40 |
| 70 | Usher syndrome, type 1m | Enrichment | ESPN | 2.40 |
| 71 | Autosomal recessive nonsyndromic deafness 36 | Enrichment | ESPN | 2.40 |
| 72 | Tsh producing pituitary tumor | Enrichment | CDH23 | 2.40 |
| 73 | Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia | Enrichment | SPTAN1 | 2.40 |
| 74 | Developmental delay with or without epilepsy | Enrichment | SPTAN1 | 2.40 |
| 75 | Baraitser-winter syndrome | Enrichment | ACTB | 2.40 |
| 76 | Neuronopathy, distal hereditary motor, autosomal dominant 11 | Enrichment | SPTAN1 | 2.40 |
| 77 | Usher syndrome type 1b | Enrichment | MYO7A | 2.40 |
| 78 | Cask-related intellectual disability | Enrichment | CASK | 2.40 |
| 79 | Autosomal dominant nonsyndromic hearing loss 17 | Enrichment | MYH9 | 2.40 |
| 80 | Congenital smooth muscle hamartoma | Enrichment | ACTB | 2.40 |
| 81 | Developmental malformations-deafness-dystonia syndrome | Enrichment | ACTB | 2.40 |
| 82 | Ceroid lipofuscinosis, neuronal, 4 | Enrichment | DNAJC5 | 2.29 |
| 83 | Brugada syndrome 4 | Enrichment | CACNB2 | 2.29 |
| 84 | Deafness, autosomal recessive 93 | Enrichment | CABP2 | 2.29 |
| 85 | Intellectual developmental disorder, autosomal dominant 66 | Enrichment | ATP2B1 | 2.29 |
| 86 | Intellectual developmental disorder, x-linked 50 | Enrichment | SYN1 | 2.29 |
| 87 | Developmental and epileptic encephalopathy 117 | Enrichment | SNAP25 | 2.29 |
| 88 | Epilepsy, x-linked 1, with variable learning disabilities and behavior disorders | Enrichment | SYN1 | 2.29 |
| 89 | Primary aldosteronism, seizures, and neurologic abnormalities | Enrichment | CACNA1D | 2.29 |
| 90 | Arthrogryposis and ectodermal dysplasia | Enrichment | OTOF | 2.29 |
| 91 | Deafness, autosomal dominant 25 | Enrichment | SLC17A8 | 2.29 |
| 92 | X-linked epilepsy with variable learning disabilities and behavior disorders | Enrichment | SYN1 | 2.29 |
| 93 | Pontocerebellar hypoplasia, type 3 | Enrichment | PCLO | 2.29 |
| 94 | Sinoatrial node dysfunction and deafness | Enrichment | CACNA1D | 2.29 |
| 95 | Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements | Enrichment | VAMP2 | 2.29 |
| 96 | Epilepsy with generalized tonic-clonic seizures | Enrichment | SNAP25 | 2.29 |
| 97 | Aldosterone-producing adenoma with seizures and neurological abnormalities | Enrichment | CACNA1D | 2.29 |
| 98 | Autism | Enrichment | ATP2B1, PCDH15, STX1A | 2.23 |
| 99 | Intellectual developmental disorder, x-linked, syndromic, raymond type | Enrichment | SPTAN1 | 2.10 |
| 100 | Deafness, autosomal dominant 2a | Enrichment | KCNQ4 | 2.10 |
| 101 | Cataract 35 | Enrichment | MYH9 | 2.10 |
| 102 | Deafness, autosomal dominant 16 | Enrichment | STRC | 2.10 |
| 103 | Fg syndrome 4 | Enrichment | CASK | 2.10 |
| 104 | Usher syndrome, type if | Enrichment | PCDH15 | 2.10 |
| 105 | Deafness, autosomal dominant 30 | Enrichment | MYO3A | 2.10 |
| 106 | Deafness, autosomal dominant 36 | Enrichment | TMC1 | 2.10 |
| 107 | Deafness, autosomal recessive 48 | Enrichment | CIB2 | 2.10 |
| 108 | Deafness, autosomal recessive 23 | Enrichment | PCDH15 | 2.10 |
| 109 | Deafness, autosomal recessive 28 | Enrichment | TRIOBP | 2.10 |
| 110 | Deafness, autosomal dominant 20 | Enrichment | ACTG1 | 2.10 |
| 111 | Baraitser-winter syndrome 2 | Enrichment | ACTG1 | 2.10 |
| 112 | Deafness, autosomal recessive 84a | Enrichment | CDH23 | 2.10 |
| 113 | Deafness, autosomal recessive 104 | Enrichment | RIPOR2 | 2.10 |
| 114 | Deafness, autosomal recessive 7 | Enrichment | TMC1 | 2.10 |
| 115 | Combined saposin deficiency | Enrichment | CDH23 | 2.10 |
| 116 | Spermatogenic failure 7 | Enrichment | STRC | 2.10 |
| 117 | Syndromic x-linked intellectual disability | Enrichment | CASK | 2.10 |
| 118 | Deafness, autosomal recessive 16 | Enrichment | STRC | 2.10 |
| 119 | Usher syndrome, type ig | Enrichment | USH1G | 2.10 |
| 120 | Pseudosarcomatous fibromatosis | Enrichment | MYH9 | 2.10 |
| 121 | Combined psap deficiency | Enrichment | CDH23 | 2.10 |
| 122 | Dfna2 nonsyndromic hearing loss | Enrichment | KCNQ4 | 2.10 |
| 123 | Familial isolated pituitary adenoma | Enrichment | CDH23 | 2.10 |
| 124 | Congenital disorder of glycosylation, type iw, autosomal dominant | Enrichment | CACNA1D | 1.99 |
| 125 | Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss | Enrichment | MYH9 | 1.92 |
| 126 | Intellectual developmental disorder with microcephaly and pontine and cerebellar hypoplasia | Enrichment | CASK | 1.92 |
| 127 | Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy | Enrichment | SPTBN1 | 1.92 |
| 128 | Short-rib thoracic dysplasia 11 with or without polydactyly | Enrichment | SPTAN1 | 1.92 |
| 129 | Syndromic x-linked intellectual disability najm type | Enrichment | CASK | 1.92 |
| 130 | Cerebellar disease | Enrichment | CASK | 1.92 |
| 131 | Non-syndromic x-linked intellectual disability | Enrichment | CASK, SYP | 1.84 |
| 132 | Intellectual developmental disorder, x-linked 96 | Enrichment | SYP | 1.82 |
| 133 | Intellectual developmental disorder, autosomal dominant 30, with speech delay and behavioral abnormalities | Enrichment | ATP2B1 | 1.82 |
| 134 | Aland island eye disease | Enrichment | WHRN | 1.80 |
| 135 | Deafness-infertility syndrome | Enrichment | STRC | 1.80 |
| 136 | Deafness, autosomal recessive 79 | Enrichment | TPRN | 1.80 |
| 137 | Aminoacylase 1 deficiency | Enrichment | ACTB | 1.80 |
| 138 | Pituitary adenoma 5, multiple types | Enrichment | CDH23 | 1.80 |
| 139 | Prolactinoma | Enrichment | CDH23 | 1.80 |
| 140 | Charcot-marie-tooth hereditary neuropathy | Enrichment | SPTAN1 | 1.80 |
| 141 | Pseudomyogenic hemangioendothelioma | Enrichment | ACTB | 1.80 |
| 142 | Epilepsy | Enrichment | BSN, SYN1 | 1.76 |
| 143 | Anemia, congenital, nonspherocytic hemolytic, 1 | Enrichment | CASK | 1.70 |
| 144 | Deafness, autosomal recessive 63 | Enrichment | MYH9 | 1.70 |
| 145 | Pervasive developmental disorder | Enrichment | SPTBN1 | 1.70 |
| 146 | Macular degeneration | Enrichment | FSCN2 | 1.70 |
| 147 | Coloboma of choroid and retina | Enrichment | ACTG1 | 1.70 |
| 148 | Rare pervasive developmental disorder | Enrichment | SPTBN1 | 1.70 |
| 149 | Developmental and epileptic encephalopathy 2 | Enrichment | SNAP25 | 1.69 |
| 150 | Cerebellar atrophy with seizures and variable developmental delay | Enrichment | CACNA2D2 | 1.69 |
| 151 | Autosomal recessive non-syndromic intellectual disability | Enrichment | EZR, LHFPL5 | 1.65 |
| 152 | Hemangioma, capillary infantile | Enrichment | MYH9 | 1.63 |
| 153 | Autosomal recessive intellectual developmental disorder | Enrichment | LHFPL5 | 1.63 |
| 154 | Syndromic rod-cone dystrophy | Enrichment | CDH23 | 1.63 |
| 155 | Usher syndrome, type iia | Enrichment | CDH23 | 1.56 |
| 156 | Pierre robin syndrome | Enrichment | ATP2B1 | 1.52 |
| 157 | Primary hyperaldosteronism | Enrichment | CDH23 | 1.45 |
| 158 | Cat eye syndrome | Enrichment | ACTG1 | 1.41 |
| 159 | Autism spectrum disorder | Enrichment | KCNMA1 | 1.40 |
| 160 | Cone-rod dystrophy 6 | Enrichment | PCDH15 | 1.26 |
| 161 | Presynaptic congenital myasthenic syndromes | Enrichment | SNAP25 | 1.26 |
| 162 | Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay | Enrichment | CASK | 1.21 |
| 163 | Hypertension | Enrichment | MYH9 | 1.21 |
| 164 | Isolated congenital microcephaly | Enrichment | CASK | 1.21 |
| 165 | Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly | Enrichment | ATP2B1 | 1.19 |
| 166 | Clubfoot | Enrichment | ATP2B1 | 1.19 |
| 167 | Stereotypic movement disorder | Enrichment | SNAP25 | 1.19 |
| 168 | Periventricular nodular heterotopia | Enrichment | ATP2B1 | 1.16 |
| 169 | Neuromuscular disease | Enrichment | SPTAN1 | 1.16 |
| 170 | Early infantile developmental and epileptic encephalopathy | Enrichment | CASK | 1.16 |
| 171 | Neuronal ceroid lipofuscinosis | Enrichment | DNAJC5 | 1.13 |
| 172 | Lissencephaly | Enrichment | ACTG1 | 1.09 |
| 173 | Jeune thoracic dystrophy | Enrichment | SPTAN1 | 1.02 |
| 174 | Williams-beuren syndrome | Enrichment | STX1A | 1.01 |
| 175 | Asphyxiating thoracic dystrophy | Enrichment | SPTAN1 | 0.98 |
| 176 | Short-rib thoracic dysplasia 1 with or without polydactyly | Enrichment | SPTAN1 | 0.91 |
| 177 | Brugada syndrome | Enrichment | CACNB2 | 0.91 |
| 178 | Cakut | Enrichment | ACTG1 | 0.90 |
| 179 | Dystonia | Enrichment | CASK | 0.88 |
| 180 | Complex neurodevelopmental disorder | Enrichment | ATP2B1, SPTBN1 | 0.88 |
| 181 | Cystic fibrosis | Enrichment | STX1A | 0.82 |
| 182 | Benign epilepsy with centrotemporal spikes | Enrichment | SPTAN1 | 0.82 |
| 183 | Hereditary spastic paraplegia | Enrichment | SPTAN1 | 0.81 |
| 184 | Centralopathic epilepsy | Enrichment | SPTAN1 | 0.80 |
| 185 | West syndrome | Enrichment | SPTAN1 | 0.79 |
| 186 | Thrombocytopenia | Enrichment | MYH9 | 0.76 |
| 187 | Body mass index quantitative trait locus 11 | Enrichment | MYH9 | 0.74 |
| 188 | Autosomal dominant non-syndromic intellectual disability | Enrichment | EPB41L1 | 0.74 |
| 189 | Spastic ataxia | Enrichment | SPTAN1 | 0.72 |
| 190 | Hereditary breast ovarian cancer syndrome | Enrichment | MYO7A | 0.70 |
| 191 | Optic atrophy plus syndrome | Enrichment | SNAP25 | 0.70 |
| 192 | Schizophrenia | Enrichment | PCDH15 | 0.68 |
| 193 | Congenital nervous system abnormality | Enrichment | CASK | 0.46 |
| 194 | Nervous system disease | Enrichment | CASK | 0.46 |