TPRN, taperin, 286262

N. diseases: 7; N. variants: 7
Disease: Deafness, Autosomal Recessive 79 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2750082
Disease: Deafness, Autosomal Recessive 79
Deafness, Autosomal Recessive 79 		0.810 GeneticVariation disease BEFREE In humans, TPRN mutations cause autosomal recessive nonsyndromic deafness (DFNB79) by an unknown mechanism. 30159668 2019
CUI: C2750082
Disease: Deafness, Autosomal Recessive 79
Deafness, Autosomal Recessive 79 		0.810 Biomarker disease MGD Progressive hearing loss and degeneration of hair cell stereocilia in taperin gene knockout mice. 27693694 2016
CUI: C2750082
Disease: Deafness, Autosomal Recessive 79
Deafness, Autosomal Recessive 79 		0.810 Biomarker disease GENOMICS_ENGLAND Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79. 20170899 2010
CUI: C2750082
Disease: Deafness, Autosomal Recessive 79
Deafness, Autosomal Recessive 79 		0.810 Biomarker disease CTD_human
CUI: C2750082
Disease: Deafness, Autosomal Recessive 79
Deafness, Autosomal Recessive 79 		0.810 CausalMutation disease CLINVAR
CUI: C2750082
Disease: Deafness, Autosomal Recessive 79
Deafness, Autosomal Recessive 79 		0.810 GeneticVariation disease CLINVAR