|
LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 1G (disorder)
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 1G (disorder)
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G).
|
24647604 |
2014 |
|
Muscular Dystrophies, Limb-Girdle
|
0.450 |
GeneticVariation
|
group |
BEFREE |
To date, LGMD D3 (previously known as LGMD1G) has been characterized in only two families with Brazilian or Uruguayan origin.
|
30604053 |
2019 |
|
Muscular Dystrophies, Limb-Girdle
|
0.450 |
GeneticVariation
|
group |
BEFREE |
The LGMD group is still growing today and consists of 19 autosomal dominant and recessive forms (LGMD1A to LGMD1G and LGMD2A to LGMD2M).
|
17339125 |
2007 |
|
Malignant neoplasm of lung
|
0.060 |
GeneticVariation
|
disease |
BEFREE |
The protein alpha CP-4 (also known as hnRNP E4) is an RNA binding protein encoded by a gene at 3p21, one of the most common altered regions in lung cancer.
|
17973258 |
2008 |
|
Malignant neoplasm of lung
|
0.060 |
GeneticVariation
|
disease |
BEFREE |
Using total RNA extracted from 600 mul of plasma, we detected hnRNP B1 mRNA in 39.1% (9/23) of lung cancer patients, with levels ranging from 1.9 to 19,045.5 copies/100 ng RNA, and in 5.2% (5/97) of healthy volunteers.
|
18461365 |
2008 |
|
Carcinoma of lung
|
0.060 |
GeneticVariation
|
disease |
BEFREE |
The protein alpha CP-4 (also known as hnRNP E4) is an RNA binding protein encoded by a gene at 3p21, one of the most common altered regions in lung cancer.
|
17973258 |
2008 |
|
Carcinoma of lung
|
0.060 |
GeneticVariation
|
disease |
BEFREE |
Using total RNA extracted from 600 mul of plasma, we detected hnRNP B1 mRNA in 39.1% (9/23) of lung cancer patients, with levels ranging from 1.9 to 19,045.5 copies/100 ng RNA, and in 5.2% (5/97) of healthy volunteers.
|
18461365 |
2008 |
|
Primary malignant neoplasm of lung
|
0.060 |
GeneticVariation
|
disease |
BEFREE |
The protein alpha CP-4 (also known as hnRNP E4) is an RNA binding protein encoded by a gene at 3p21, one of the most common altered regions in lung cancer.
|
17973258 |
2008 |
|
Primary malignant neoplasm of lung
|
0.060 |
GeneticVariation
|
disease |
BEFREE |
Using total RNA extracted from 600 mul of plasma, we detected hnRNP B1 mRNA in 39.1% (9/23) of lung cancer patients, with levels ranging from 1.9 to 19,045.5 copies/100 ng RNA, and in 5.2% (5/97) of healthy volunteers.
|
18461365 |
2008 |
|
Amyotrophic Lateral Sclerosis
|
0.030 |
GeneticVariation
|
disease |
BEFREE |
The interacting region in each of these proteins was their glycine-rich domain, the domain most frequently mutated in hnRNP-related proteins that cause ALS.
|
25616961 |
2015 |
|
Paresis
|
0.010 |
GeneticVariation
|
phenotype |
BEFREE |
Limb girdle muscular dystrophy D3 HNRNPDL related in a Chinese family with distal muscle weakness caused by a mutation in the prion-like domain.
|
30604053 |
2019 |
|
Speech Disorders
|
0.010 |
GeneticVariation
|
group |
BEFREE |
The evidence support the notion that PRKG2 and RASGEF1B are critical genes for intellectual disability and speech defect, and the heterogeneous nuclear ribonucleoprotein HNRNPD and HNRNPDL (previously known as HNRPDL) genes are associated with growth retardation and hypotonia.
|
27604828 |
2017 |
|
Muscle Weakness
|
0.010 |
GeneticVariation
|
phenotype |
BEFREE |
Limb girdle muscular dystrophy D3 HNRNPDL related in a Chinese family with distal muscle weakness caused by a mutation in the prion-like domain.
|
30604053 |
2019 |
|
Intellectual Disability
|
0.010 |
GeneticVariation
|
group |
BEFREE |
The evidence support the notion that PRKG2 and RASGEF1B are critical genes for intellectual disability and speech defect, and the heterogeneous nuclear ribonucleoprotein HNRNPD and HNRNPDL (previously known as HNRPDL) genes are associated with growth retardation and hypotonia.
|
27604828 |
2017 |
|
LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 1G (disorder)
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
229th ENMC international workshop: Limb girdle muscular dystrophies - Nomenclature and reformed classification Naarden, the Netherlands, 17-19 March 2017.
|
30055862 |
2018 |
|
LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 1G (disorder)
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Muscular Dystrophies, Limb-Girdle
|
0.450 |
Biomarker
|
group |
HPO |
|
|
|
|
Muscular Dystrophies, Limb-Girdle
|
0.450 |
Biomarker
|
group |
BEFREE |
HNRPDL is linked to the development of limb-girdle muscular dystrophy 1G and shares domain architecture with TDP-43.
|
26160665 |
2015 |
|
Muscular Dystrophies, Limb-Girdle
|
0.450 |
Biomarker
|
group |
BEFREE |
Mutation of aspartic acid 378 of hnRNPDL to either asparagine or histidine has been associated with limb girdle muscular dystrophy.
|
30279180 |
2018 |
|
Muscular Dystrophies, Limb-Girdle
|
0.450 |
Biomarker
|
group |
BEFREE |
A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G).
|
24647604 |
2014 |
|
Muscular Dystrophies, Limb-Girdle
|
0.450 |
Biomarker
|
group |
GENOMICS_ENGLAND |
229th ENMC international workshop: Limb girdle muscular dystrophies - Nomenclature and reformed classification Naarden, the Netherlands, 17-19 March 2017.
|
30055862 |
2018 |
|
Myopathy
|
0.110 |
Biomarker
|
group |
BEFREE |
The present study enlarges the clinical, morphological and muscle MRI spectrum of AD-HNRNPDL-related myopathies demonstrating the significant particularities of the disease.
|
31267206 |
2019 |
|
Myopathy
|
0.110 |
Biomarker
|
group |
HPO |
|
|
|
|
Cataract
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|