SERPINB6, serpin family B member 6, 5269

N. diseases: 128; N. variants: 3
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3150704
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 91
DEAFNESS, AUTOSOMAL RECESSIVE 91 		0.600 Biomarker disease GENOMICS_ENGLAND A novel serpin-like protein, B-43, exists in both neurons and astrocytes: an immunohistochemical study in the parietal region of the bovine brain. 8614560 1995
CUI: C3150704
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 91
DEAFNESS, AUTOSOMAL RECESSIVE 91 		0.600 CausalMutation disease CLINVAR
CUI: C3150704
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 91
DEAFNESS, AUTOSOMAL RECESSIVE 91 		0.600 Biomarker disease CTD_human
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.300 Biomarker disease CLINGEN Whole-exome sequencing reveals diverse modes of inheritance in sporadic mild to moderate sensorineural hearing loss in a pediatric population. 25719458 2015
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.300 Biomarker disease CLINGEN A homozygous mutation of SERPINB6, a gene encoding an intracellular protease inhibitor, has recently been associated with post-lingual, autosomal-recessive, nonsyndromic hearing loss in humans (DFNB91). 23669344 2013
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.300 Biomarker disease CLINGEN A truncating mutation in SERPINB6 is associated with autosomal-recessive nonsyndromic sensorineural hearing loss. 20451170 2010
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.300 Biomarker phenotype GENOMICS_ENGLAND A novel serpin-like protein, B-43, exists in both neurons and astrocytes: an immunohistochemical study in the parietal region of the bovine brain. 8614560 1995
CUI: C0043094
Disease: Weight Gain
Weight Gain 		0.200 Biomarker phenotype CTD_mouse Different transcriptional control of metabolism and extracellular matrix in visceral and subcutaneous fat of obese and rimonabant treated mice. 19030233 2008
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.100 Biomarker disease BEFREE The differences of clinicopathologic characteristics among subgroups of reclassified HER2 fluorescence in situ hybridization (FISH) according to the ASCO/CAP 2018 breast cancer HER2 testing guidelines. 31732618 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.100 Biomarker disease BEFREE ASCO/CAP 2018 breast cancer HER2 testing guidelines: summary of pertinent recommendations for practice in Australia. 31076089 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.100 Biomarker disease BEFREE Misclassification of HER2 status was observed not only in breast cancers with ASCO-CAP equivocal status but also in breast cancers with an average of fewer than 4.0 HER2 copies per tumor cell when using alternative control probes. 30520947 2019
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.100 Biomarker disease BEFREE A total of 592 primary invasive BC cases from before and after the publication of the updated ASCO/CAP guideline were evaluated for HER2 amplification by silver ISH according to the 2013 and 2018 guidelines. 30953146 2019
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.100 Biomarker disease BEFREE ASCO/CAP 2018 breast cancer HER2 testing guidelines: summary of pertinent recommendations for practice in Australia. 31076089 2019
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.100 Biomarker disease BEFREE The differences of clinicopathologic characteristics among subgroups of reclassified HER2 fluorescence in situ hybridization (FISH) according to the ASCO/CAP 2018 breast cancer HER2 testing guidelines. 31732618 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.100 Biomarker disease BEFREE Comparative analysis of the EGFR, HER2, c-MYC, and MET variations in colorectal cancer determined by three different measures: gene copy number gain, amplification status and the 2013 ASCO/CAP guideline criterion for HER2 testing of breast cancer. 28764718 2017
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		0.100 Biomarker disease BEFREE However, cell cultures transfected with HCV and grown in medium containing TVR demonstrated that ART detected HCV RNA for a longer time than CAP/CTM. 28118381 2017
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		0.100 Biomarker disease BEFREE The mean difference between HPS/CTM and CAP/CTM at baseline (n=153) was 0.32 log<sub>10</sub> IU/mL HCV RNA. 28259054 2017
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.100 Biomarker disease BEFREE Comparative analysis of the EGFR, HER2, c-MYC, and MET variations in colorectal cancer determined by three different measures: gene copy number gain, amplification status and the 2013 ASCO/CAP guideline criterion for HER2 testing of breast cancer. 28764718 2017
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.100 Biomarker disease BEFREE Assessment of dual-probe Her-2 fluorescent in situ hybridization in breast cancer by the 2013 ASCO/CAP guidelines produces more equivocal results than that by the 2007 ASCO/CAP guidelines. 27455837 2016
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.100 Biomarker disease BEFREE Updated 2013 College of American Pathologists/American Society of Clinical Oncology (CAP/ASCO) guideline recommendations for human epidermal growth factor receptor 2 (HER2) fluorescent in situ hybridization (FISH) testing increase HER2 positive and HER2 equivocal breast cancer cases; retrospective study of HER2 FISH results of 836 invasive breast cancers. 27180259 2016
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.100 Biomarker disease BEFREE Using ASCO/CAP guideline-conform thresholds for categorization of breast cancers as HER2-negative, equivocal or positive, nearly perfect concordance was observed for HER2 classification by FISH and MIP (93% concordant classifications, κ = 0.87). 27716627 2016
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.100 Biomarker disease BEFREE Application of the 2013 ASCO/CAP guideline and the SISH technique for HER2 testing of breast cancer selects more patients for anti-HER2 treatment. 26754674 2016
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.100 Biomarker disease BEFREE Current standard of care requires that HER2 gene testing be performed on all newly diagnosed invasive breast cancers in order to determine eligibility for anti-HER2 antibody therapy and should be performed in accordance with current ASCO-CAP guidelines (Hammond et al., J Clin Oncol 29(15):e458, 2011; Wolff et al., J Clin Oncol 31(31):3997-4013, 2013). 26820945 2016
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		0.100 AlteredExpression disease BEFREE HCV RNA levels were significantly higher with CAP/CTM than with ART (overall difference, +0.11 log10 IU/mL; P < .001). 26908802 2016
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		0.100 Biomarker disease BEFREE All 3266 serum samples taken during and post treatment were tested with both the COBAS AmpliPrep/COBAS TaqMan (CAP/CTM) HCV Test v2.0 and the Abbott RealTime (ART) HCV Test. 26692214 2016