Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
0.300 Biomarker disease CLINGEN Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis. 27736875 2016
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
0.300 Biomarker disease CLINGEN Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss. 26969326 2016
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
0.300 Biomarker disease CLINGEN Defect in the gene encoding the EAR/EPTP domain-containing protein TSPEAR causes DFNB98 profound deafness. 22678063 2012