|
DEAFNESS, AUTOSOMAL RECESSIVE 35
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35.
|
18179891 |
2008 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 35
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Chromosomal mapping of the human and murine orphan receptors ERRalpha (ESRRA) and ERRbeta (ESRRB) and identification of a novel human ERRalpha-related pseudogene.
|
9344655 |
1997 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 35
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 35
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
hearing impairment
|
0.320 |
GeneticVariation
|
phenotype |
BEFREE |
The common etiology of dental caries and hearing impairment provides a venue to assist in the identification of individuals at risk to either condition and provides options for the development of new caries prevention strategies, if the associated ESRRB genetic variants are correlated with efficacy.
|
25023176 |
2014 |
|
hearing impairment
|
0.320 |
GeneticVariation
|
phenotype |
LHGDN |
Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35.
|
18179891 |
2008 |
|
hearing impairment
|
0.320 |
Biomarker
|
phenotype |
GENOMICS_ENGLAND |
Chromosomal mapping of the human and murine orphan receptors ERRalpha (ESRRA) and ERRbeta (ESRRB) and identification of a novel human ERRalpha-related pseudogene.
|
9344655 |
1997 |
|
Nonsyndromic Deafness
|
0.310 |
Biomarker
|
disease |
CLINGEN |
Combined examination of sequence and copy number variations in human deafness genes improves diagnosis for cases of genetic deafness.
|
25342930 |
2014 |
|
Nonsyndromic Deafness
|
0.310 |
Biomarker
|
disease |
CLINGEN |
A novel missense mutation in the ESRRB gene causes DFNB35 hearing loss in a Tunisian family.
|
21802533 |
2012 |
|
Nonsyndromic Deafness
|
0.310 |
Biomarker
|
disease |
CLINGEN |
DFNB35 due to a novel mutation in the ESRRB gene in a Czech consanguineous family.
|
22951369 |
2012 |
|
Nonsyndromic Deafness
|
0.310 |
Biomarker
|
disease |
CLINGEN |
A Novel ESRRB Deletion Is a Rare Cause of Autosomal Recessive Nonsyndromic Hearing Impairment among Pakistani Families.
|
22567352 |
2011 |
|
Nonsyndromic Deafness
|
0.310 |
GeneticVariation
|
disease |
BEFREE |
Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35.
|
18179891 |
2008 |
|
Nonsyndromic Deafness
|
0.310 |
Biomarker
|
disease |
CLINGEN |
Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35.
|
18179891 |
2008 |
|
Nonsyndromic Deafness
|
0.310 |
Biomarker
|
disease |
CLINGEN |
Estrogen-related receptor beta/NR3B2 controls epithelial cell fate and endolymph production by the stria vascularis.
|
17765677 |
2007 |
|
Cardiomyopathy, Dilated
|
0.210 |
Biomarker
|
group |
BEFREE |
Taken together these observations suggest that ESRRβ is a critical component in the onset of DCM by affecting contractility and calcium balance.<b>NEW & NOTEWORTHY</b> Estrogen-related receptor-β (ESRRβ) is highly expressed in the heart and cardiac-specific deletion results in the development of a dilated cardiomyopathy (DCM).
|
28130335 |
2017 |
|
Cardiomyopathy, Dilated
|
0.210 |
Biomarker
|
group |
MGD |
|
|
|
|
Malignant neoplasm of breast
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
ESRRB mRNA expression is significantly lower in TNBC/BLBC versus other breast cancer subtypes.
|
31741180 |
2020 |
|
Breast Carcinoma
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
ESRRB mRNA expression is significantly lower in TNBC/BLBC versus other breast cancer subtypes.
|
31741180 |
2020 |
|
Malignant Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
The orphan nuclear receptor liver receptor homolog‑1 (LRH‑1) serves prominent roles in malignancy; however, to the best of our knowledge, the role of LRH‑1 in hepatoblastoma remains unknown.
|
30320362 |
2019 |
|
Primary malignant neoplasm
|
0.100 |
Biomarker
|
group |
BEFREE |
The orphan nuclear receptor liver receptor homolog‑1 (LRH‑1) serves prominent roles in malignancy; however, to the best of our knowledge, the role of LRH‑1 in hepatoblastoma remains unknown.
|
30320362 |
2019 |
|
Malignant neoplasm of breast
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
A Kaplan-Meier Survival analysis of GEO dataset was performed to correlate the expression of ERRβ with survival in breast cancer patients.
|
29843638 |
2018 |
|
Malignant neoplasm of breast
|
0.100 |
Biomarker
|
disease |
BEFREE |
Orphan nuclear receptors ERRα, ERRβ and ERRγ that belong to NR3B or type IV nuclear receptor family are well studied for their role in breast cancer pathophysiology.
|
29940916 |
2018 |
|
Breast Carcinoma
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
A Kaplan-Meier Survival analysis of GEO dataset was performed to correlate the expression of ERRβ with survival in breast cancer patients.
|
29843638 |
2018 |
|
Breast Carcinoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
Orphan nuclear receptors ERRα, ERRβ and ERRγ that belong to NR3B or type IV nuclear receptor family are well studied for their role in breast cancer pathophysiology.
|
29940916 |
2018 |
|
Malignant neoplasm of breast
|
0.100 |
Biomarker
|
disease |
BEFREE |
Targeting ERRβ2 may therefore be a promising therapeutic strategy in breast cancer.
|
27363015 |
2016 |