|
Congenital Abnormality
|
0.010 |
GeneticVariation
|
group |
BEFREE |
We established a hypomorphic fndc3a mutant line (fndc3a<sup>wue1/wue1</sup>) via CRISPR/Cas9, exhibiting phenotypic malformations and changed gene expression patterns during early stages of median fin fold development.
|
31527654 |
2019 |
|
Glioma
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
To identify a novel lncRNA that may be critical in glioma, the present study downloaded the RNA expression profiles of 171 glioma tissues and 5 normal tissues from The Cancer Genome Atlas (TCGA) database using the TCGAbiolinks package in R. Then, lncRNAs in the downloaded TCGA data were identified using the HUGO Gene Nomenclature Committee (HGNC).
|
30949502 |
2019 |
|
ovarian neoplasm
|
0.010 |
Biomarker
|
disease |
BEFREE |
Abbreviations: ALS: Amyotrophic Lateral Sclerosis; APP: Amyloid Precursor Protein gene; CASP3: Caspase 3 gene; CASP9: Caspase 9 gene; H2AFX: H2A histone family, member X gene; HIST1H2AL: Histone H2A type 1 gene; HIST1H2BK: Histone H2B type 1-K gene; HIST1H3J: Histone H3J gene; HIST1H4B: Histone H4B gene; HIST2H2BE: Histone H2B type 2-E gene; HUGO: human genome organization; KM: Kaplan-Meier survival curve; MAPT: Tau gene; OV: Ovarian cancer; SNCA: alpha-syneculin gene; TARDBP: Transactive response DNA binding protein 43 kDa; TCGA: the cancer genome atlas.
|
30394813 |
2018 |
|
Malignant neoplasm of ovary
|
0.010 |
Biomarker
|
disease |
BEFREE |
Abbreviations: ALS: Amyotrophic Lateral Sclerosis; APP: Amyloid Precursor Protein gene; CASP3: Caspase 3 gene; CASP9: Caspase 9 gene; H2AFX: H2A histone family, member X gene; HIST1H2AL: Histone H2A type 1 gene; HIST1H2BK: Histone H2B type 1-K gene; HIST1H3J: Histone H3J gene; HIST1H4B: Histone H4B gene; HIST2H2BE: Histone H2B type 2-E gene; HUGO: human genome organization; KM: Kaplan-Meier survival curve; MAPT: Tau gene; OV: Ovarian cancer; SNCA: alpha-syneculin gene; TARDBP: Transactive response DNA binding protein 43 kDa; TCGA: the cancer genome atlas.
|
30394813 |
2018 |
|
Primary malignant neoplasm
|
0.010 |
Biomarker
|
group |
BEFREE |
Abbreviations: ALS: Amyotrophic Lateral Sclerosis; APP: Amyloid Precursor Protein gene; CASP3: Caspase 3 gene; CASP9: Caspase 9 gene; H2AFX: H2A histone family, member X gene; HIST1H2AL: Histone H2A type 1 gene; HIST1H2BK: Histone H2B type 1-K gene; HIST1H3J: Histone H3J gene; HIST1H4B: Histone H4B gene; HIST2H2BE: Histone H2B type 2-E gene; HUGO: human genome organization; KM: Kaplan-Meier survival curve; MAPT: Tau gene; OV: Ovarian cancer; SNCA: alpha-syneculin gene; TARDBP: Transactive response DNA binding protein 43 kDa; TCGA: the cancer genome atlas.
|
30394813 |
2018 |
|
Carcinoma, Ovarian Epithelial
|
0.010 |
Biomarker
|
disease |
BEFREE |
Abbreviations: ALS: Amyotrophic Lateral Sclerosis; APP: Amyloid Precursor Protein gene; CASP3: Caspase 3 gene; CASP9: Caspase 9 gene; H2AFX: H2A histone family, member X gene; HIST1H2AL: Histone H2A type 1 gene; HIST1H2BK: Histone H2B type 1-K gene; HIST1H3J: Histone H3J gene; HIST1H4B: Histone H4B gene; HIST2H2BE: Histone H2B type 2-E gene; HUGO: human genome organization; KM: Kaplan-Meier survival curve; MAPT: Tau gene; OV: Ovarian cancer; SNCA: alpha-syneculin gene; TARDBP: Transactive response DNA binding protein 43 kDa; TCGA: the cancer genome atlas.
|
30394813 |
2018 |
|
Hepatolenticular Degeneration
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
This is the first study covering Turkish Wilson disease patients and control groups for mutation screening in all the coding regions of ATP7B gene by DNA sequencing method and adding five new mutations and one polymorphism into the HUGO Wilson disease mutation database.
|
23333878 |
2013 |
|
Pervasive Development Disorder
|
0.010 |
GeneticVariation
|
group |
BEFREE |
Associations between single-nucleotide polymorphism in the FNDC3A and autism spectrum disorder in a Korean population.
|
23639254 |
2013 |
|
Autism Spectrum Disorders
|
0.010 |
Biomarker
|
disease |
BEFREE |
We conclude that FNDC3A influences the prevalence of ASD.
|
23639254 |
2013 |
|
Pheochromocytoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
We have previously demonstrated that measurement of tissue concentrations of the secretogranin II (SgII or SCG2 as listed in the HUGO database)-derived peptide EM66 may help to discriminate between benign and malignant pheochromocytomas and that EM66 represents a sensitive plasma marker of pheochromocytomas.
|
22217803 |
2012 |
|
Adrenal Gland Pheochromocytoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
We have previously demonstrated that measurement of tissue concentrations of the secretogranin II (SgII or SCG2 as listed in the HUGO database)-derived peptide EM66 may help to discriminate between benign and malignant pheochromocytomas and that EM66 represents a sensitive plasma marker of pheochromocytomas.
|
22217803 |
2012 |
|
Hodgkin Disease
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
To determine the possible alteration of the inhibitor kappaBalpha (HUGO-approved symbol, NFKBIA) gene in Chinese Hodgkin lymphoma (HL) patients, NFKBIA mRNA and protein expression in 22 primary HL patients were examined.
|
20193848 |
2010 |
|
Carcinogenesis
|
0.010 |
Biomarker
|
phenotype |
BEFREE |
Prostaglandin-endoperoxide synthase 2 (PTGS2, the HUGO Gene Nomenclature Committee-approved official symbol for cycloxygenase-2, COX-2) and its enzymatic product prostaglandin E2 have critical roles in inflammation and carcinogenesis through the G protein-coupled receptor PTGER2 (EP2).
|
20200425 |
2010 |
|
Malignant neoplasm of lung
|
0.010 |
Biomarker
|
disease |
BEFREE |
In an effort to develop a biomarker for lung cancer risk, we evaluated the transcript expressions of 14 antioxidant, DNA repair, and transcription factor genes in normal bronchial epithelial cells (HUGO names CAT, CEBPG, E2F1, ERCC4, ERCC5, GPX1, GPX3, GSTM3, GSTP1, GSTT1, GSTZ1, MGST1, SOD1, and XRCC1).
|
19887610 |
2009 |
|
Carcinoma of lung
|
0.010 |
Biomarker
|
disease |
BEFREE |
In an effort to develop a biomarker for lung cancer risk, we evaluated the transcript expressions of 14 antioxidant, DNA repair, and transcription factor genes in normal bronchial epithelial cells (HUGO names CAT, CEBPG, E2F1, ERCC4, ERCC5, GPX1, GPX3, GSTM3, GSTP1, GSTT1, GSTZ1, MGST1, SOD1, and XRCC1).
|
19887610 |
2009 |
|
Primary malignant neoplasm of lung
|
0.010 |
Biomarker
|
disease |
BEFREE |
In an effort to develop a biomarker for lung cancer risk, we evaluated the transcript expressions of 14 antioxidant, DNA repair, and transcription factor genes in normal bronchial epithelial cells (HUGO names CAT, CEBPG, E2F1, ERCC4, ERCC5, GPX1, GPX3, GSTM3, GSTP1, GSTT1, GSTZ1, MGST1, SOD1, and XRCC1).
|
19887610 |
2009 |
|
Ectodermal Dysplasia
|
0.010 |
Biomarker
|
disease |
BEFREE |
Alterations in nuclear factor kappa B (NF-kappaB) essential modulator (NEMO; HUGO-approved symbol IKBKG) underlie most cases of ectodermal dysplasia with immune deficiency (EDI), a human disorder characterized by anhidrosis with diminished immunity.
|
18412279 |
2008 |
|
Frontotemporal Lobar Degeneration
|
0.010 |
Biomarker
|
disease |
BEFREE |
Mutations in the gene encoding granulin (HUGO gene symbol GRN, also referred to as progranulin, PGRN), located at chromosome 17q21, were recently linked to tau-negative ubiquitin-positive frontotemporal lobar degeneration (FTLDU).
|
18543312 |
2008 |
|
GRN-related frontotemporal dementia
|
0.010 |
Biomarker
|
disease |
BEFREE |
Mutations in the gene encoding granulin (HUGO gene symbol GRN, also referred to as progranulin, PGRN), located at chromosome 17q21, were recently linked to tau-negative ubiquitin-positive frontotemporal lobar degeneration (FTLDU).
|
18543312 |
2008 |
|
Albinism, Ocular
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
An intronic point mutation was identified in the ocular albinism type 1 (OA1) gene (HUGO symbol, GPR143) in a family with the X-linked form of ocular albinism.
|
16550551 |
2006 |
|
Bipolar Disorder
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
We performed a case/control study on the DAT1 (HUGO approved symbol SL6A3) gene core promoter polymorphism -67A/T to analyze the possible association of either allele of this polymorphism with bipolar disorder.
|
15768394 |
2005 |
|
Peutz-Jeghers Syndrome
|
0.010 |
Biomarker
|
disease |
BEFREE |
The human LKB gene (official HUGO symbol, STK11) encodes a serine/threonine protein kinase that is defective in patients with Peutz-Jeghers syndrome (PJS).
|
16110486 |
2005 |
|
Prostate carcinoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
Only four genes (ITM2B, CHC1L, KIAA0970, and LOC51131), located in the region most frequently deleted in prostate carcinoma, showed a significant difference in expression between normal and neoplastic prostate tissues.
|
12886522 |
2003 |
|
Retinoschisis
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
The XLRS1 gene (HUGO-approved symbol, RS1) has been found to cause X-linked recessive retinoschisis (RS) which is characterized by splitting of the superficial layer of the retina.
|
10220153 |
1999 |
|
Amyotrophic Lateral Sclerosis
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
Abbreviations: ALS: Amyotrophic Lateral Sclerosis; APP: Amyloid Precursor Protein gene; CASP3: Caspase 3 gene; CASP9: Caspase 9 gene; H2AFX: H2A histone family, member X gene; HIST1H2AL: Histone H2A type 1 gene; HIST1H2BK: Histone H2B type 1-K gene; HIST1H3J: Histone H3J gene; HIST1H4B: Histone H4B gene; HIST2H2BE: Histone H2B type 2-E gene; HUGO: human genome organization; KM: Kaplan-Meier survival curve; MAPT: Tau gene; OV: Ovarian cancer; SNCA: alpha-syneculin gene; TARDBP: Transactive response DNA binding protein 43 kDa; TCGA: the cancer genome atlas.
|
30394813 |
2018 |