DFNB114
MCID: DFN376
MIFTS: 17
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Deafness, Autosomal Recessive 114 (DFNB114)
Categories:
Blood diseases, Cardiovascular diseases, Ear diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Deafness, Autosomal Recessive 114:
Characteristics:HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Ear diseases Neuronal diseases Blood diseases Cardiovascular diseases |
UniProtKB/Swiss-Prot :
73
Deafness, autosomal recessive, 114: A form of non-syndromic deafness characterized by congenital profound 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.
MalaCards based summary : Deafness, Autosomal Recessive 114, is also known as dfnb114. An important gene associated with Deafness, Autosomal Recessive 114 is GRAP (GRB2 Related Adaptor Protein). Affiliated tissues include brain, and related phenotype is sensorineural hearing impairment. Disease Ontology : 12 An autosomal recessive nonsyndromic deafness characterized by congenital profound sensorineural hearing loss that has material basis in homozygous or compound heterozygous mutation in GRAP on chromosome 17p11.2. OMIM : 56 DFNB114 is characterized by congenital profound sensorineural hearing loss (Li et al., 2019). (618456) |
Human phenotypes related to Deafness, Autosomal Recessive 114:31
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Genetic tests related to Deafness, Autosomal Recessive 114:
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MalaCards organs/tissues related to Deafness, Autosomal Recessive 114:40
Brain
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Articles related to Deafness, Autosomal Recessive 114:
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ClinVar genetic disease variations for Deafness, Autosomal Recessive 114:6
UniProtKB/Swiss-Prot genetic disease variations for Deafness, Autosomal Recessive 114:73
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Search
GEO
for disease gene expression data for Deafness, Autosomal Recessive 114.
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