Gene Role Disease OMIM Descriptions Sources
DFNB31 causing USH2D 611383 The disease is caused by mutations affecting the gene represented in this entry. USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa and sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH2 is characterized by congenital mild hearing impairment with normal vestibular responses. [read more]
DFNB59 causing DFNB59 610220 The disease is caused by mutations affecting the gene represented in this entry. A form of sensorineural hearing impairment with absent or severely abnormal auditory brainstem response but normal otoacoustic emissions (auditory neuropathy or auditory dys-synchrony). Auditory neuropathies result from a lesion in the area including the inner hair cells, connections between the inner hair cells and the cochlear branch of the auditory nerve, the auditory nerve itself and auditory pathways of the brainstem. [read more] 16804542
22617256
DIABLO causing DFNA64 614152 The disease is caused by mutations affecting the gene represented in this entry. A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. [read more] 21722859
DIAPH1 causing DFNA1 124900 The disease is caused by mutations affecting the gene represented in this entry. A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. [read more]
DLX5 causing SHFM1D 220600 The disease is caused by mutations affecting the gene represented in this entry. A disease characterized by the association of split-hand/foot malformation with deafness. Split-hand/foot malformation is a limb malformation involving the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some patients have been found to have mental retardation, ectodermal and craniofacial findings, and orofacial clefting. [read more] 22121204
DNMT1 causing ADCADN 604121 The disease is caused by mutations affecting the gene represented in this entry. An autosomal dominant neurologic disorder characterized by adult onset of progressive cerebellar ataxia, narcolepsy, cataplexy, sensorineural deafness, and dementia. More variable features include optic atrophy, sensory neuropathy, psychosis, and depression. [read more] 22328086
DSPP causing DFNA39/DGI1 605594 The disease is caused by mutations affecting the gene represented in this entry. A disorder characterized by the association of progressive sensorineural high-frequency hearing loss with dentinogenesis imperfecta. [read more] 11175790
EDN3 causing WS4B 613265 The disease is caused by mutations affecting the gene represented in this entry. A disorder characterized by the association of Waardenburg features (depigmentation and deafness) with the absence of enteric ganglia in the distal part of the intestine (Hirschsprung disease). [read more] 8630503
11303518
12189494
EDNRB causing ABCDS 600501 The disease is caused by mutations affecting the gene represented in this entry. An autosomal recessive syndrome characterized by albinism, black lock at temporal occipital region, bilateral deafness, aganglionosis of the large intestine and total absence of neurocytes and nerve fibers in the small intestine. [read more]
EDNRB causing WS4A 277580 The disease is caused by mutations affecting the gene represented in this entry. A disorder characterized by the association of Waardenburg features (depigmentation and deafness) with the absence of enteric ganglia in the distal part of the intestine (Hirschsprung disease). [read more] 8634719
12189494