ELMOD3

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

• Monogenic hearing loss

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Disease associations (Open Targets)

• hearing loss, autosomal recessive

  0.48

• deafness

  0.40

• subarachnoid hemorrhage

  0.26

• autosomal dominant nonsyndromic hearing loss

  0.20

• hearing loss, autosomal dominant 81

  0.17

• respiratory tract infectious disorder

  0.14

• Usher syndrome

  0.06

• Usher syndrome type 1

  0.06

• Branchio-otic syndrome

  0.05

• Choroideremia - deafness - obesity

  0.05

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)