Table 3 Top AR-AD phenotype pairs with high semantic similarity, where the dominant phenotype is likely to involve a dominant-negative effect
Gene | Recessive phenotype | Dominant phenotype | Similarity |
|---|---|---|---|
POLG | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 | 0.775 |
AFG3L2 | Spastic ataxia 5, autosomal recessive | Spinocerebellar ataxia 28 | 0.775 |
ACTA1 | Congenital myopathy 2B, severe infantile, autosomal recessive | Congenital myopathy 2 C, severe infantile, autosomal dominant | 0.763 |
ALDH18A1 | Spastic paraplegia 9B, autosomal recessive | Spastic paraplegia 9 A, autosomal dominant | 0.740 |
TTN | Muscular dystrophy, limb-girdle, autosomal recessive 10 | Myopathy, myofibrillar, 9, with early respiratory failure | 0.708 |
POLR3B | Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism | Charcot-Marie-Tooth disease, demyelinating, type 1I | 0.700 |
HTRA1 | Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 | 0.669 |
DEAF1 | Dyskinesia, seizures, and intellectual developmental disorder | Vulto-van Silfout-de Vries syndrome | 0.668 |
TWNK | Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 | 0.638 |
CLCN7 | Osteopetrosis, autosomal recessive 4 | Osteopetrosis, autosomal dominant 2 | 0.569 |
GHR | Laron syndrome | Growth hormone insensitivity, partial | 0.521 |
LMNA | Mandibuloacral dysplasia | Restrictive dermopathy 2 | 0.511 |
SAMD9L | Myelodysplasia and leukaemia syndrome with monosomy 7 | Ataxia-pancytopenia syndrome | 0.510 |
