Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Sensorineural Hearing Loss (disorder)
0.110 GeneticVariation disease BEFREE The diagnostic yield on the SNHL patients was 42% (21/50): 47.6% (10/21) with autosomal recessive inheritance pattern (BSND, CDH23, MYO15A, STRC [n = 2], USH2A [n = 3], RDX, SLC26A4); 38.1% (8/21) autosomal dominant (ACTG1 [n = 3; 2 de novo], CHD7, GATA3 [de novo], MITF, P2RX2, SOX10), and 14.3% (3/21) X-linked (COL4A5 [de novo], POU3F4, PRPS1). 29986705 2018
Sensorineural Hearing Loss (disorder)
0.110 Biomarker disease HPO