STRC, stereocilin, 161497

N. diseases: 25; N. variants: 12
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1863561
Disease: Deafness, Autosomal Recessive 16
Deafness, Autosomal Recessive 16 		0.830 Biomarker disease CTD_human
CUI: C1970187
Disease: Deafness, Sensorineural, And Male Infertility
Deafness, Sensorineural, And Male Infertility 		0.600 Biomarker disease CTD_human
CUI: C1970187
Disease: Deafness, Sensorineural, And Male Infertility
Deafness, Sensorineural, And Male Infertility 		0.600 GeneticVariation disease CLINVAR
CUI: C2751811
Disease: Spermatogenic Failure 7
Spermatogenic Failure 7 		0.400 Biomarker disease CTD_human
CUI: C2751811
Disease: Spermatogenic Failure 7
Spermatogenic Failure 7 		0.400 GeneticVariation disease CLINVAR
CUI: C0452138
Disease: Sensorineural hearing loss, bilateral
Sensorineural hearing loss, bilateral 		0.310 Biomarker disease HPO
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.150 GeneticVariation phenotype CLINVAR
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.130 CausalMutation disease CLINVAR
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.130 Biomarker disease HPO
CUI: C0042571
Disease: Vertigo
Vertigo 		0.110 CausalMutation phenotype CLINVAR
CUI: C0004509
Disease: Azoospermia
Azoospermia 		0.100 Biomarker disease HPO
CUI: C0021364
Disease: Male infertility
Male infertility 		0.100 Biomarker phenotype HPO
CUI: C0028960
Disease: Oligospermia
Oligospermia 		0.100 Biomarker disease HPO
CUI: C0403823
Disease: Asthenozoospermia
Asthenozoospermia 		0.100 Biomarker disease HPO
CUI: C0520933
Disease: Abnormal spermatogenesis
Abnormal spermatogenesis 		0.100 Biomarker phenotype HPO
CUI: C1858916
Disease: DEAFNESS, AUTOSOMAL DOMINANT 16
DEAFNESS, AUTOSOMAL DOMINANT 16 		0.100 CausalMutation disease CLINVAR
CUI: C4023001
Disease: Nonmotile sperm
Nonmotile sperm 		0.100 Biomarker phenotype HPO
CUI: C0029899
Disease: Otosclerosis
Otosclerosis 		0.010 GeneticVariation disease BEFREE This region does not overlap with DFNB16 locus but partially coincides with the otosclerosis (OTS) locus. 11571554 2001
CUI: C4551901
Disease: OTOSCLEROSIS 1
OTOSCLEROSIS 1 		0.010 GeneticVariation disease BEFREE This region does not overlap with DFNB16 locus but partially coincides with the otosclerosis (OTS) locus. 11571554 2001
CUI: C1863561
Disease: Deafness, Autosomal Recessive 16
Deafness, Autosomal Recessive 16 		0.830 GeneticVariation disease CLINVAR Mutations in a new gene encoding a protein of the hair bundle cause non-syndromic deafness at the DFNB16 locus. 11687802 2001
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.320 Biomarker disease CLINGEN Mutations in a new gene encoding a protein of the hair bundle cause non-syndromic deafness at the DFNB16 locus. 11687802 2001
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.130 GeneticVariation disease BEFREE We have identified two frameshift mutations and a large deletion in the copy containing 29 coding exons in two families affected by autosomal recessive non-syndromal sensorineural deafness linked to the DFNB16 locus. 11687802 2001
CUI: C1863561
Disease: Deafness, Autosomal Recessive 16
Deafness, Autosomal Recessive 16 		0.830 Biomarker disease BEFREE Exceptions to this include DFNB2 (MYO7A), DFNB8/10 (TMPRSS3) and DFNB16 (STRC) where age of onset may sometimes be later on in childhood, DFNB4 (SLC26A4) where there may be dilated vestibular aqueducts and endolymphatic sacs, and DFNB9 (OTOF) where there may also be an associated auditory neuropathy. 12324385 2002
CUI: C1832828
Disease: Deafness, Autosomal Recessive 9
Deafness, Autosomal Recessive 9 		0.010 Biomarker disease BEFREE Exceptions to this include DFNB2 (MYO7A), DFNB8/10 (TMPRSS3) and DFNB16 (STRC) where age of onset may sometimes be later on in childhood, DFNB4 (SLC26A4) where there may be dilated vestibular aqueducts and endolymphatic sacs, and DFNB9 (OTOF) where there may also be an associated auditory neuropathy. 12324385 2002
CUI: C1838701
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 2
DEAFNESS, AUTOSOMAL RECESSIVE 2 		0.010 Biomarker disease BEFREE Exceptions to this include DFNB2 (MYO7A), DFNB8/10 (TMPRSS3) and DFNB16 (STRC) where age of onset may sometimes be later on in childhood, DFNB4 (SLC26A4) where there may be dilated vestibular aqueducts and endolymphatic sacs, and DFNB9 (OTOF) where there may also be an associated auditory neuropathy. 12324385 2002