|
Hereditary Hyperexplexia
|
0.300 |
GermlineCausalMutation
|
disease |
ORPHANET |
A homozygous ATAD1 mutation impairs postsynaptic AMPA receptor trafficking and causes a lethal encephalopathy.
|
29390050 |
2018 |
|
HYPEREKPLEXIA 4
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Precision therapy for a new disorder of AMPA receptor recycling due to mutations in ATAD1.
|
28180185 |
2017 |
|
Malaria
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Oral vaccination of mice against rodent malaria with recombinant Lactococcus lactis expressing MSP-1(19).
|
16437602 |
2005 |
|
Malaria
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Detection of human malaria using recombinant Plasmodium knowlesi merozoire surface protein-1 (MSP-1₁₉) expressed in Escherichia coli.
|
25812552 |
2015 |
|
Malaria
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Antibody levels against MSP1 19kD, MSP2, schizont extract, and IE variant surface antigens were significantly higher in children who had documented episodes of malaria than in children who did not.
|
30658632 |
2019 |
|
Malaria
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
DNA was extracted and typed for 202 Single Nucleotide Polymorphisms with known associations to malaria or antibody production, and antibody levels to four clinical grade malarial antigens [AMA1, MSP1, MSP2, and (NANP)4] plus total IgE were measured by ELISA techniques.
|
26314886 |
2015 |
|
Clinical malaria
|
0.060 |
AlteredExpression
|
disease |
BEFREE |
In addition, we show for the first time that RTS,S vaccination increased IgG levels to a specific group of pre-erythrocytic and blood-stage antigens (MSP5, MSP1 block 2, RH4.2, EBA140, and SSP2/TRAP) which levels correlated with protection against clinical malaria (odds ratio [95% confidence interval] 0.53 [0.3-0.93], p = 0.03, for MSP1; 0.52 [0.26-0.98], p = 0.05, for SSP2) in multivariable logistic regression analyses.
|
31409398 |
2019 |
|
alpha-Thalassemia
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
Compared to parasite free individuals, individuals carrying sub-microscopic densities of P. falciparum parasites had significantly higher median antibody levels to MSP-1 (p = 0.042) and MSP-2 (p = 0.034) but not to AMA-1 (p = 0.14) while no clear relation between sub-microscopic parasite carriage and G6PD deficiency or alpha+-thalassaemia was observed.
|
19460160 |
2009 |
|
alpha^+^ Thalassemia
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
Compared to parasite free individuals, individuals carrying sub-microscopic densities of P. falciparum parasites had significantly higher median antibody levels to MSP-1 (p = 0.042) and MSP-2 (p = 0.034) but not to AMA-1 (p = 0.14) while no clear relation between sub-microscopic parasite carriage and G6PD deficiency or alpha+-thalassaemia was observed.
|
19460160 |
2009 |
|
Deficiency of glucose-6-phosphate dehydrogenase
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
Compared to parasite free individuals, individuals carrying sub-microscopic densities of P. falciparum parasites had significantly higher median antibody levels to MSP-1 (p = 0.042) and MSP-2 (p = 0.034) but not to AMA-1 (p = 0.14) while no clear relation between sub-microscopic parasite carriage and G6PD deficiency or alpha+-thalassaemia was observed.
|
19460160 |
2009 |
|
Refractory anaemia with excess blasts
|
0.010 |
PosttranslationalModification
|
disease |
BEFREE |
Bone marrow aspirates from 35 MDS patients, including 25 refractory anemia (RA), 10 refractory anemia with excess of blasts (RAEB) or refractory anemia with excess of blasts in transformation (RAEBt) and 7 cases of acute myeloid leukemia (AML) transformed from MDS, were studied on methylation rate in 5' end of CT gene by polymerase chain reaction (PCR) technique using methylation-sensitive endonuclease Hpa II with external references of undigested DNA and Msp I digested DNA and internal reference of 112 bp fragment containing codon 61 of N-ras oncogene.
|
11245020 |
1998 |
|
Pancreatic carcinoma
|
0.010 |
PosttranslationalModification
|
disease |
BEFREE |
Methylation restriction enzyme digestion (Msp I/Hap II) and polymerase chain reaction (PCR) were performed to detect methylation of the MUC2 gene in fecal and blood specimens from seven study subjects with pancreatic cancer (PC), chronic pancreatitis (CP), or normal controls (CON).
|
31590960 |
2019 |
|
Malignant neoplasm of pancreas
|
0.010 |
PosttranslationalModification
|
disease |
BEFREE |
Methylation restriction enzyme digestion (Msp I/Hap II) and polymerase chain reaction (PCR) were performed to detect methylation of the MUC2 gene in fecal and blood specimens from seven study subjects with pancreatic cancer (PC), chronic pancreatitis (CP), or normal controls (CON).
|
31590960 |
2019 |
|
MYELODYSPLASTIC SYNDROME
|
0.010 |
PosttranslationalModification
|
group |
BEFREE |
Bone marrow aspirates from 35 MDS patients, including 25 refractory anemia (RA), 10 refractory anemia with excess of blasts (RAEB) or refractory anemia with excess of blasts in transformation (RAEBt) and 7 cases of acute myeloid leukemia (AML) transformed from MDS, were studied on methylation rate in 5' end of CT gene by polymerase chain reaction (PCR) technique using methylation-sensitive endonuclease Hpa II with external references of undigested DNA and Msp I digested DNA and internal reference of 112 bp fragment containing codon 61 of N-ras oncogene.
|
11245020 |
1998 |
|
HYPEREKPLEXIA 4
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A homozygous ATAD1 mutation impairs postsynaptic AMPA receptor trafficking and causes a lethal encephalopathy.
|
29390050 |
2018 |
|
HYPEREKPLEXIA 4
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Precision therapy for a new disorder of AMPA receptor recycling due to mutations in ATAD1.
|
28180185 |
2017 |
|
HYPEREKPLEXIA 4
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Encephalopathies
|
0.110 |
Biomarker
|
group |
HPO |
|
|
|
|
Ataxia
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Congenital clubfoot
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Esophagitis
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Muscular fasciculation
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Gastroesophageal reflux disease
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Hernia, Inguinal
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Malaria
|
0.100 |
Biomarker
|
disease |
BEFREE |
We examined cord blood T and B cell immunity to P. falciparum merozoite surface protein-1 (MSP-1) in infants born in an area of stable malaria transmission in Kenya.
|
11751981 |
2002 |