|
Neuralgic Amyotrophy
|
0.610 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
SEPT9 gene sequencing analysis reveals recurrent mutations in hereditary neuralgic amyotrophy.
|
19451530 |
2009 |
|
Neuralgic Amyotrophy
|
0.610 |
Biomarker
|
disease |
CTD_human |
SEPT9 sequence alternations causing hereditary neuralgic amyotrophy are associated with altered interactions with SEPT4/SEPT11 and resistance to Rho/Rhotekin-signaling.
|
17546647 |
2007 |
|
Neuralgic Amyotrophy
|
0.610 |
SusceptibilityMutation
|
disease |
ORPHANET |
|
|
|
|
Brachial Plexus Neuritis
|
0.510 |
GeneticVariation
|
disease |
BEFREE |
Hereditary NA is mainly linked to a mutation in the gene of the Septin-9 protein.
|
27263426 |
2017 |
|
Brachial Plexus Neuritis
|
0.510 |
Biomarker
|
disease |
CTD_human |
SEPT9 sequence alternations causing hereditary neuralgic amyotrophy are associated with altered interactions with SEPT4/SEPT11 and resistance to Rho/Rhotekin-signaling.
|
17546647 |
2007 |
|
Brachial Plexus Neuritis
|
0.510 |
SusceptibilityMutation
|
disease |
ORPHANET |
|
|
|
|
Leukemia, Myelocytic, Acute
|
0.440 |
GeneticVariation
|
disease |
GWASCAT |
Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.
|
27903959 |
2017 |
|
Leukemia, Myelocytic, Acute
|
0.440 |
Biomarker
|
disease |
BEFREE |
Our case represents an additional MLL-SEPT9-positive AML that was considered to be related to therapy.
|
20682395 |
2010 |
|
Leukemia, Myelocytic, Acute
|
0.440 |
GeneticVariation
|
disease |
BEFREE |
It is thus suggested that, in common with the original MLL/SEPT9 cases, monocytic differentiation and a poor prognosis may also be associated with acute myeloid leukemia with the variant MLL/SEPT9 fusion transcript.
|
18642054 |
2008 |
|
Leukemia, Myelocytic, Acute
|
0.440 |
GeneticVariation
|
disease |
LHGDN |
It is thus suggested that, in common with the original MLL/SEPT9 cases, monocytic differentiation and a poor prognosis may also be associated with acute myeloid leukemia with the variant MLL/SEPT9 fusion transcript.
|
18642054 |
2008 |
|
Leukemia, Myelocytic, Acute
|
0.440 |
GeneticVariation
|
disease |
BEFREE |
Previously, the MSF gene, also called AF17q25, has been cloned as a fusion partner of the MLL gene in therapy-related or infant acute myelogenous leukemias with t(11;17)(q23;q25).
|
12095151 |
2002 |
|
Leukemia, Myelocytic, Acute
|
0.440 |
GeneticVariation
|
disease |
BEFREE |
The AF17q25 protein is homologous to septin family proteins, including H5, NEDD5, CDC10, and hCDCrel, which is one of the fusion partners of MLL in t(11;22)(q23;q11)-AML.
|
10485469 |
1999 |
|
Leukemia, Myelocytic, Acute
|
0.440 |
Biomarker
|
disease |
CTD_human |
MSF (MLL septin-like fusion), a fusion partner gene of MLL, in a therapy-related acute myeloid leukemia with a t(11;17)(q23;q25).
|
10339604 |
1999 |
|
Neoplasm Invasiveness
|
0.300 |
Biomarker
|
phenotype |
CTD_human |
Pseudopodial actin dynamics control epithelial-mesenchymal transition in metastatic cancer cells.
|
20388789 |
2010 |
|
Cervico-Brachial Neuralgia
|
0.300 |
Biomarker
|
disease |
CTD_human |
SEPT9 sequence alternations causing hereditary neuralgic amyotrophy are associated with altered interactions with SEPT4/SEPT11 and resistance to Rho/Rhotekin-signaling.
|
17546647 |
2007 |
|
Brachial Neuralgia
|
0.300 |
Biomarker
|
disease |
CTD_human |
SEPT9 sequence alternations causing hereditary neuralgic amyotrophy are associated with altered interactions with SEPT4/SEPT11 and resistance to Rho/Rhotekin-signaling.
|
17546647 |
2007 |
|
Acute Myeloid Leukemia, M1
|
0.300 |
Biomarker
|
disease |
CTD_human |
MSF (MLL septin-like fusion), a fusion partner gene of MLL, in a therapy-related acute myeloid leukemia with a t(11;17)(q23;q25).
|
10339604 |
1999 |
|
Acute Myeloid Leukemia (AML-M2)
|
0.300 |
Biomarker
|
disease |
CTD_human |
MSF (MLL septin-like fusion), a fusion partner gene of MLL, in a therapy-related acute myeloid leukemia with a t(11;17)(q23;q25).
|
10339604 |
1999 |
|
Cardiovascular Diseases
|
0.110 |
GeneticVariation
|
group |
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
|
Cardiovascular Diseases
|
0.110 |
Biomarker
|
group |
BEFREE |
The aim of this study was to assess the relationship between periodontal bacterial burden and MSF with CVD.
|
24748407 |
2014 |
|
Peripheral Nervous System Diseases
|
0.110 |
GeneticVariation
|
group |
BEFREE |
Recently, a duplication in septin 9 (SEPT9) was shown to be causal for hereditary neuralgic amyotrophy (HNA), an episodic peripheral neuropathy with autosomal dominant inheritance.
|
19939853 |
2010 |
|
Peripheral Nervous System Diseases
|
0.110 |
Biomarker
|
group |
HPO |
|
|
|
|
Colorectal Carcinoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
We developed and validated a microsimulation model to assess the effectiveness of colonoscopy (COL), flexible sigmoidoscopy (FS), high-sensitivity guaiac fecal occult blood-test (HS-gFOBT), fecal immunochemical test (FIT), multitarget stool DNA test (FIT-DNA), computed tomography colonography (CTC), and methylated SEPT9 DNA test (SEPT9) in terms of CRC incidence and mortality, incremental life years gained (LYG), number of colonoscopies, and adverse events for men and women 50 years or older over their lifetime.
|
31777197 |
2020 |
|
Body Height
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Characterizing rare and low-frequency height-associated variants in the Japanese population.
|
31562340 |
2019 |
|
Body Height
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |