DISEASES

Disease-gene associations mined from literature

Human genes for hyperekplexia 1

Hyperekplexia 1 [DOID:0060696]

A hyperekplexia that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the GLRA1 gene on chromosome 5q32.

Synonyms:  hyperekplexia 1,  DOID:0060696,  HKPX1