Disease: Usher syndrome, type 1C ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2931207
Disease: Usher syndrome, type 1C
Usher syndrome, type 1C 		0.340 GeneticVariation disease BEFREE Usher syndrome, Type 1C (USH1C) is an autosomal recessive inherited disorder in which a mutation in the gene encoding harmonin is associated with multi-sensory deficits (i.e., auditory, vestibular, and visual). 29037661 2018
CUI: C2931207
Disease: Usher syndrome, type 1C
Usher syndrome, type 1C 		0.340 GeneticVariation disease BEFREE Usher syndrome type 1C (USH1C/harmonin) is associated with profound retinal, auditory and vestibular dysfunction. 28633508 2017
CUI: C2931207
Disease: Usher syndrome, type 1C
Usher syndrome, type 1C 		0.340 Biomarker disease CTD_human Mutations in the alternatively spliced exons of USH1C cause non-syndromic recessive deafness. 12136232 2002
CUI: C2931207
Disease: Usher syndrome, type 1C
Usher syndrome, type 1C 		0.340 GeneticVariation disease BEFREE The molecular basis of the disorder is a homozygous 122-kb deletion of 11p14-15, which includes part of ABCC8 and overlaps with the locus for Usher syndrome type 1C and DFNB18. 10973248 2000
CUI: C2931207
Disease: Usher syndrome, type 1C
Usher syndrome, type 1C 		0.340 AlteredExpression disease BEFREE A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C. 10973247 2000