autosomal dominant nonsyndromic deafness 77

Summary
Synonym
  • DFNA77
Definition
An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the ABCC1 gene on chromosome 16p13.11.
Super Class
autosomal dominant nonsyndromic deafness
External Links
Disease Ontology
DOID:0112168
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
4363 ABCC1 ATP binding cassette subfamily C member 1 (ABCC1 blood group)
Displaying 1 entry
Gene ID Gene Symbol Description Source
17250 Abcc1 ATP-binding cassette, sub-family C member 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
24565 Abcc1 ATP binding cassette subfamily C member 1
Displaying all 3 entries
Gene ID Gene Symbol Description Source
180289 mrp-7 Multidrug resistance protein mrp-7
180408 mrp-2 Multidrug resistance-associated protein 1
180409 mrp-1 Multidrug resistance-associated protein 1
The Human Phenotype Ontology
Displaying all 5 entries
HPO ID HPO Term
HP:0000360 Tinnitus
HP:0003581 Adult onset
HP:0000006 Autosomal dominant inheritance
HP:0011390 Abnormal inner ear morphology
HP:0000407 Sensorineural hearing impairment
Displaying 1 entry
Gene ID Gene Symbol Description
4363 ABCC1 ATP binding cassette subfamily C member 1 (ABCC1 blood group)

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024