Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0339789
Disease: Congenital deafness
Congenital deafness 		0.020 GeneticVariation disease BEFREE High prevalence of congenital deafness on Reunion Island is due to a founder variant of LHFPL5. 30298622 2019
CUI: C0339789
Disease: Congenital deafness
Congenital deafness 		0.020 Biomarker disease BEFREE Finally, exo-AAV1 gene therapy partially rescues hearing in a mouse model of hereditary deafness (lipoma HMGIC fusion partner-like 5/tetraspan membrane protein of hair cell stereocilia [Lhfpl5/Tmhs<sup>-/-</sup>]). 28082074 2017
CUI: C3495676
Disease: Anorectal Malformations
Anorectal Malformations 		0.010 GeneticVariation group BEFREE We hypothesize that the urogenital and anorectal malformations in the patient result from one or several mechanisms including disruption of the genes 182-FIP and LHFPL5, altered expression of the genes flanking the translocation breakpoints and, a gain of function mechanism mediated by the 182-FIP-LHFPL5 fusion transcript. 16395596 2006