|
Liver carcinoma
|
0.310 |
AlteredExpression
|
disease |
BEFREE |
Expression of LIN28B-TST is associated with significantly poor prognosis in HCC patients.
|
29466730 |
2018 |
|
Liver carcinoma
|
0.310 |
Biomarker
|
disease |
CTD_human |
Hepatocellular carcinoma-associated protein markers investigated by MALDI-TOF MS.
|
21472284 |
2012 |
|
Colitis
|
0.300 |
Biomarker
|
disease |
CTD_human |
These data show that rhodanese, but not CSE, is associated with DSS-induced colitis in mice, leading to a hypothesis that impaired detoxification of H(2)S due to down-regulation or suppression of colonic rhodanese is involved in IBD.
|
19647029 |
2009 |
|
Prostatic Neoplasms
|
0.300 |
Biomarker
|
group |
CTD_human |
Identification of genes potentially involved in the acquisition of androgen-independent and metastatic tumor growth in an autochthonous genetically engineered mouse prostate cancer model.
|
17013881 |
2007 |
|
Malignant neoplasm of prostate
|
0.300 |
Biomarker
|
disease |
CTD_human |
Identification of genes potentially involved in the acquisition of androgen-independent and metastatic tumor growth in an autochthonous genetically engineered mouse prostate cancer model.
|
17013881 |
2007 |
|
Finding of Mean Corpuscular Hemoglobin
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
|
Retinitis Pigmentosa
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in peripherin 2 (PRPH2), also known as retinal degeneration slow/RDS, lead to various retinal degenerations including retinitis pigmentosa (RP) and macular/pattern dystrophy (MD/PD).
|
28053051 |
2017 |
|
Age related macular degeneration
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Here we took advantage of a transgenic mouse line expressing an RDS mutant (R172W) known to cause macular degeneration (MD) in humans.
|
24463884 |
2014 |
|
Corpuscular Hemoglobin Concentration Mean
|
0.100 |
GeneticVariation
|
phenotype |
GWASDB |
Seventy-five genetic loci influencing the human red blood cell.
|
23222517 |
2012 |
|
Age related macular degeneration
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
PRPH2 (Peripherin/RDS) mutations associated with different macular dystrophies in a Spanish population: a new mutation.
|
20213611 |
2011 |
|
Red Blood Cell Count measurement
|
0.100 |
GeneticVariation
|
phenotype |
GWASDB |
Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.
|
19862010 |
2009 |
|
Retinitis Pigmentosa
|
0.100 |
Biomarker
|
disease |
BEFREE |
In the present study, a search for causal mutations in RHO and peripherin/RDS in a group of 28 Mexican RP probands with AD inheritance was performed.
|
19958124 |
2009 |
|
Age related macular degeneration
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
This paper demonstrates that visual prognosis in macular dystrophies associated with peripherin/RDS may be mutation specific and, for the Arg172Trp substitution, worse than the Arg142Trp and Arg172Gln substitutions.
|
19262438 |
2009 |
|
Autosomal dominant retinitis pigmentosa
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Molecular screening of rhodopsin and peripherin/RDS genes in Mexican families with autosomal dominant retinitis pigmentosa.
|
19958124 |
2009 |
|
Retinitis Pigmentosa
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
To describe an Italian family in which two separate phenotypes (retinitis pigmentosa and adult onset vitelliform macular dystrophy) are associated with an identical mutation (S212G) in the peripherin/RDS gene.
|
18050133 |
2008 |
|
Retinitis Pigmentosa
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
An overview is presented of the broad spectrum of clinical phenotypes caused by human peripherin/RDS gene mutations, ranging from various macular dystrophies to widespread forms of retinal dystrophy such as retinitis pigmentosa.
|
18328765 |
2008 |
|
Retinitis Pigmentosa
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A novel p.Trp94X mutation in RDS was found in all three affected members of a two-generation family that was associated with retinitis pigmentosa in the son, pattern dystrophy in the daughter and fundus flavimaculatus in the mother.
|
16916875 |
2007 |
|
Retinitis Pigmentosa
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A high frequency (23%) of mutations in the peripherin/RDS gene was found in a cohort of 61 unrelated patients with various types of autosomal dominant central retinal dystrophies as compared with a low prevalence (1.3%) of mutations in this gene causing retinitis pigmentosa in a Spanish population.
|
17653047 |
2007 |
|
Age related macular degeneration
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
To identify suspected RDS mutations in families in which different people have been identified with either generalised retinal dystrophy or macular dystrophy.
|
16916875 |
2007 |
|
Age related macular degeneration
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Peripherin/RDS and VMD2 mutations in macular dystrophies with adult-onset vitelliform lesion.
|
16885924 |
2006 |
|
Autosomal dominant retinitis pigmentosa
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Probands from each family were screened for mutations in 13 genes known to cause adRP: CA4, CRX, FSCN2, IMPDH1, NRL, PRPF3 (RP18), PRPF8 (RP13), PRPF31 (RP11), RDS, RHO, ROM1, RP1, and RP9.
|
16799052 |
2006 |
|
Autosomal dominant retinitis pigmentosa
|
0.100 |
Biomarker
|
disease |
BEFREE |
Analysis of gene prevalences indicates that the relative involvement of the RHO and the RDS genes in the pathogenesis of ADRP is less in Italy than in US and UK populations.
|
15994872 |
2005 |
|
Age related macular degeneration
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The RDS mutation in codon 141 is associated with an unusual AMD-like late-onset maculopathy.
|
12882809 |
2003 |
|
Age related macular degeneration
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A deletion of Asn169 in the peripherin/RDS protein causes a peculiar form of autosomal dominant macular dystrophy in a large family from the Netherlands.
|
14557182 |
2003 |
|
Retinitis Pigmentosa
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Moreover, heterozygous mutations in ROM1 on 11q13, in combination with heterozygous mutations in RDS on 6p21.1-cen, cause digenic RP (the two-locus mechanism).
|
11559856 |
2001 |