Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 23218
Gene Symbol: NBEAL2
NBEAL2
1.000 GermlineCausalMutation disease ORPHANET Here we show that mutations in NBEAL2 (neurobeachin-like 2), which encodes a BEACH/ARM/WD40 domain protein, cause GPS and that megakaryocytes and platelets from individuals with GPS express a unique combination of NBEAL2 transcripts. 21765412 2011
Entrez Id: 23218
Gene Symbol: NBEAL2
NBEAL2
1.000 Biomarker disease CLINGEN Here we show that mutations in NBEAL2 (neurobeachin-like 2), which encodes a BEACH/ARM/WD40 domain protein, cause GPS and that megakaryocytes and platelets from individuals with GPS express a unique combination of NBEAL2 transcripts. 21765412 2011
Entrez Id: 23218
Gene Symbol: NBEAL2
NBEAL2
1.000 GeneticVariation disease UNIPROT Here we show that mutations in NBEAL2 (neurobeachin-like 2), which encodes a BEACH/ARM/WD40 domain protein, cause GPS and that megakaryocytes and platelets from individuals with GPS express a unique combination of NBEAL2 transcripts. 21765412 2011
Entrez Id: 23218
Gene Symbol: NBEAL2
NBEAL2
1.000 AlteredExpression disease BEFREE Here we show that mutations in NBEAL2 (neurobeachin-like 2), which encodes a BEACH/ARM/WD40 domain protein, cause GPS and that megakaryocytes and platelets from individuals with GPS express a unique combination of NBEAL2 transcripts. 21765412 2011
Entrez Id: 23218
Gene Symbol: NBEAL2
NBEAL2
1.000 Biomarker disease BEFREE However, in case the received GPS power is decreased, the performance of the conventional RLL algorithm degrades, or it cannot estimate the roll angle anymore, therefore, for operating the RLL algorithm in a weak signal environment, this paper designs a method to increase the signal-to-noise ratio (SNR) by overlapping multiple GPS signals' correlator outputs and a method to compensate the decreased response of a rotation discriminator at low-signal strength. 30587841 2018
Entrez Id: 6857
Gene Symbol: SYT1
SYT1
0.010 AlteredExpression disease BEFREE In addition, GPS treatment markedly suppressed the expression of phosphorylated (p)-ERK, nuclear factor (NF)-κB p65 and cyclin D1, and increased the synthesis of p-P38 and p-JNK protein expression, as evidenced by immunofluorescence and western blotting analyses. 28450921 2017
Entrez Id: 64689
Gene Symbol: GORASP1
GORASP1
0.010 AlteredExpression disease BEFREE In addition, GPS treatment markedly suppressed the expression of phosphorylated (p)-ERK, nuclear factor (NF)-κB p65 and cyclin D1, and increased the synthesis of p-P38 and p-JNK protein expression, as evidenced by immunofluorescence and western blotting analyses. 28450921 2017
Entrez Id: 5970
Gene Symbol: RELA
RELA
0.010 AlteredExpression disease BEFREE In addition, GPS treatment markedly suppressed the expression of phosphorylated (p)-ERK, nuclear factor (NF)-κB p65 and cyclin D1, and increased the synthesis of p-P38 and p-JNK protein expression, as evidenced by immunofluorescence and western blotting analyses. 28450921 2017
Entrez Id: 65125
Gene Symbol: WNK1
WNK1
0.010 AlteredExpression disease BEFREE In addition, GPS treatment markedly suppressed the expression of phosphorylated (p)-ERK, nuclear factor (NF)-κB p65 and cyclin D1, and increased the synthesis of p-P38 and p-JNK protein expression, as evidenced by immunofluorescence and western blotting analyses. 28450921 2017
Entrez Id: 5599
Gene Symbol: MAPK8
MAPK8
0.010 AlteredExpression disease BEFREE In addition, GPS treatment markedly suppressed the expression of phosphorylated (p)-ERK, nuclear factor (NF)-κB p65 and cyclin D1, and increased the synthesis of p-P38 and p-JNK protein expression, as evidenced by immunofluorescence and western blotting analyses. 28450921 2017
Entrez Id: 151306
Gene Symbol: GPBAR1
GPBAR1
0.010 AlteredExpression disease BEFREE In this study, we found that GPS significantly reversed the downregulation of TGR5 and inhibited the overproduction of fibronectin (FN), transforming growth factor β1 (TGF-β1), intercellular adhesion molecule-1 (ICAM-1) and vascular adhesion molecule-1 (VCAM-1) in glomerular mesangial cells (GMCs) exposed to high glucose (HG). 31759089 2020
Entrez Id: 7412
Gene Symbol: VCAM1
VCAM1
0.010 AlteredExpression disease BEFREE In this study, we found that GPS significantly reversed the downregulation of TGR5 and inhibited the overproduction of fibronectin (FN), transforming growth factor β1 (TGF-β1), intercellular adhesion molecule-1 (ICAM-1) and vascular adhesion molecule-1 (VCAM-1) in glomerular mesangial cells (GMCs) exposed to high glucose (HG). 31759089 2020
Entrez Id: 2335
Gene Symbol: FN1
FN1
0.010 AlteredExpression disease BEFREE Indeed, Northern blot analyses confirmed that fibronectin, thrombospondin and matrix metalloprotease-2 were overexpressed in GPS fibroblasts compared with normal fibroblasts. 12823356 2003
Entrez Id: 8856
Gene Symbol: NR1I2
NR1I2
0.020 Biomarker disease BEFREE It also better characterizes the pathogenesis of defective platelet responses to thrombin, and raises interesting questions on the correlation between abnormal PAR function and the lack of alpha-granule content in GPS. 17137471 2007
Entrez Id: 10899
Gene Symbol: JTB
JTB
0.010 Biomarker disease BEFREE It also better characterizes the pathogenesis of defective platelet responses to thrombin, and raises interesting questions on the correlation between abnormal PAR function and the lack of alpha-granule content in GPS. 17137471 2007
Entrez Id: 23218
Gene Symbol: NBEAL2
NBEAL2
1.000 Biomarker disease BEFREE Loss-of-function mutations in the human <i>NBEAL2</i> gene or Nbeal2 deficiency in mice cause gray platelet syndrome, a bleeding disorder characterized by macrothrombocytopenia, splenomegaly, and paucity of α-granules in megakaryocytes and platelets. 28887433 2017
Entrez Id: 8856
Gene Symbol: NR1I2
NR1I2
0.020 Biomarker disease BEFREE Marked emperipolesis, specific defect of MK alpha-granule content and defect of PAR1-mediated platelet responses are present in all GPS patients that we could study in detail. 25806575 2015
Entrez Id: 145624
Gene Symbol: PWAR1
PWAR1
0.010 Biomarker disease BEFREE Marked emperipolesis, specific defect of MK alpha-granule content and defect of PAR1-mediated platelet responses are present in all GPS patients that we could study in detail. 25806575 2015
Entrez Id: 79581
Gene Symbol: SLC52A2
SLC52A2
0.010 Biomarker disease BEFREE Marked emperipolesis, specific defect of MK alpha-granule content and defect of PAR1-mediated platelet responses are present in all GPS patients that we could study in detail. 25806575 2015
Entrez Id: 2149
Gene Symbol: F2R
F2R
0.010 Biomarker disease BEFREE Marked emperipolesis, specific defect of MK alpha-granule content and defect of PAR1-mediated platelet responses are present in all GPS patients that we could study in detail. 25806575 2015
Entrez Id: 23218
Gene Symbol: NBEAL2
NBEAL2
1.000 GeneticVariation disease BEFREE Mice homozygous for the Nbeal2 8 bp deletion (Nbeal2gps/gps) exhibit a phenotype similar to human GPS, with significantly reduced platelet counts compared to littermate controls (p = 1.63 x 10-7). 26950939 2016
Entrez Id: 23218
Gene Symbol: NBEAL2
NBEAL2
1.000 Biomarker disease MGD Mice homozygous for the Nbeal2 8 bp deletion (Nbeal2gps/gps) exhibit a phenotype similar to human GPS, with significantly reduced platelet counts compared to littermate controls (p = 1.63 x 10-7). 26950939 2016
Entrez Id: 23218
Gene Symbol: NBEAL2
NBEAL2
1.000 Biomarker disease BEFREE Most algorithms for reducing multipath manipulate the GPS double difference (DD) observation residuals as input signal in GPS signal processing. 31208112 2019
Entrez Id: 23218
Gene Symbol: NBEAL2
NBEAL2
1.000 Biomarker disease CTD_human Mutations in NBEAL2, encoding a BEACH protein, cause gray platelet syndrome. 21765413 2011
Entrez Id: 23218
Gene Symbol: NBEAL2
NBEAL2
1.000 GeneticVariation disease UNIPROT Mutations in NBEAL2, encoding a BEACH protein, cause gray platelet syndrome. 21765413 2011