DIAPH2, diaphanous related formin 2, 1730

N. diseases: 37; N. variants: 1
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.010 GeneticVariation disease BEFREE MAPK pathway activation has been recurrently observed in desmoplastic infantile ganglioglioma/astrocytoma (DIG/DIA) with reported disproportionally low mutation allele frequencies relative to the apparent high tumor content, suggesting that MAPK pathway alterations may be subclonal. 31562743 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.010 Biomarker group BEFREE Here, we identified specific TCTP-interacting proteins by sequential affinity purification and data-independent mass spectrometry acquisition (AP-DIA/SWATH) to investigate the role of TCTP in NF1-associated malignant tumors. 30381327 2019
CUI: C0011581
Disease: Depressive disorder
Depressive disorder
0.010 Biomarker disease BEFREE For "any depressive disorder", the AUC (standard error) for the K-DIA-S was 0.896 (0.015), which was significantly larger than that for the PHQ-9 (<i>p</i>= 0.033). 31352703 2019
Diabetes Mellitus, Non-Insulin-Dependent
0.010 GeneticVariation disease BEFREE We studied alanine and aspartate aminotransferase (ALT and AST) in subjects randomized to placebo who completed assessments over 36 mo in a cardiovascular outcome trial [the Stabilisation of Atherosclerotic Plaque by Initiation of Darapladib Therapy ("STABILITY") trial; n = 4,264; mean age: 64.2 yr] or over 12 mo in three trials that enrolled only subjects with type 2 diabetes (T2D) [the DIA trials; n = 308; mean age: 62.4 yr] to investigate time-dependent relationships and the factors that might affect ALT and AST, including body mass index (BMI), T2D, and renal function. 30495974 2019
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
0.010 Biomarker disease BEFREE Here, we identified specific TCTP-interacting proteins by sequential affinity purification and data-independent mass spectrometry acquisition (AP-DIA/SWATH) to investigate the role of TCTP in NF1-associated malignant tumors. 30381327 2019
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.010 Biomarker disease BEFREE Addiction, DIA), and comorbid psychiatric disorders (Kiddie-Schedule for Affective Disorders and Schizophrenia-Present and Lifetime Version-Korean version, K-SADS-PL). 31261841 2019
CUI: C0280324
Disease: Laryngeal Squamous Cell Carcinoma
Laryngeal Squamous Cell Carcinoma
0.010 GeneticVariation disease BEFREE Moreover, we analyzed 95 LSCC tumors (53 N0 and 42 N+) using the Illumina platform and identified three heterozygous single nucleotide variants in DIAPH2 targeting conserved domains exclusively in N+ tumors. 30793164 2019
Desmoplastic infantile ganglioglioma
0.010 Biomarker disease BEFREE MAPK pathway activation has been recurrently observed in desmoplastic infantile ganglioglioma/astrocytoma (DIG/DIA) with reported disproportionally low mutation allele frequencies relative to the apparent high tumor content, suggesting that MAPK pathway alterations may be subclonal. 31562743 2019
CUI: C4086152
Disease: Childhood Astrocytoma
Childhood Astrocytoma
0.010 GeneticVariation disease BEFREE MAPK pathway activation has been recurrently observed in desmoplastic infantile ganglioglioma/astrocytoma (DIG/DIA) with reported disproportionally low mutation allele frequencies relative to the apparent high tumor content, suggesting that MAPK pathway alterations may be subclonal. 31562743 2019
Diabetes Mellitus, Insulin-Dependent
0.010 GeneticVariation disease BEFREE Hashimoto's thyroiditis and Graves' disease) and type 1 diabetes mellitus are the most common autoimmune endocrine disorders, while hypophysitis, adrenalitis (90% of cases of primary hypocortisolism or Addison's disease), POF and hypoparathyroidism represent quite rare conditions. 28990742 2018
CUI: C0018213
Disease: Graves Disease
Graves Disease
0.010 GeneticVariation disease BEFREE Hashimoto's thyroiditis and Graves' disease) and type 1 diabetes mellitus are the most common autoimmune endocrine disorders, while hypophysitis, adrenalitis (90% of cases of primary hypocortisolism or Addison's disease), POF and hypoparathyroidism represent quite rare conditions. 28990742 2018
CUI: C0020626
Disease: Hypoparathyroidism
Hypoparathyroidism
0.010 Biomarker disease BEFREE Hashimoto's thyroiditis and Graves' disease) and type 1 diabetes mellitus are the most common autoimmune endocrine disorders, while hypophysitis, adrenalitis (90% of cases of primary hypocortisolism or Addison's disease), POF and hypoparathyroidism represent quite rare conditions. 28990742 2018
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.010 Biomarker phenotype BEFREE Mammalian Diaphanous-related formin 2 (mDia2/DIAPH3/Drf3/Dia) assembles a dynamic F-actin cytoskeleton that underlies tumor cell migration and invasion. 29596520 2018
Addison's disease due to autoimmunity
0.010 GeneticVariation disease BEFREE Hashimoto's thyroiditis and Graves' disease) and type 1 diabetes mellitus are the most common autoimmune endocrine disorders, while hypophysitis, adrenalitis (90% of cases of primary hypocortisolism or Addison's disease), POF and hypoparathyroidism represent quite rare conditions. 28990742 2018
CUI: C0342409
Disease: Hypophysitis
Hypophysitis
0.010 Biomarker disease BEFREE Hashimoto's thyroiditis and Graves' disease) and type 1 diabetes mellitus are the most common autoimmune endocrine disorders, while hypophysitis, adrenalitis (90% of cases of primary hypocortisolism or Addison's disease), POF and hypoparathyroidism represent quite rare conditions. 28990742 2018
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.010 Biomarker phenotype BEFREE Mammalian Diaphanous-related formin 2 (mDia2/DIAPH3/Drf3/Dia) assembles a dynamic F-actin cytoskeleton that underlies tumor cell migration and invasion. 29596520 2018
CUI: C1364667
Disease: Adrenalitis
Adrenalitis
0.010 GeneticVariation disease BEFREE Hashimoto's thyroiditis and Graves' disease) and type 1 diabetes mellitus are the most common autoimmune endocrine disorders, while hypophysitis, adrenalitis (90% of cases of primary hypocortisolism or Addison's disease), POF and hypoparathyroidism represent quite rare conditions. 28990742 2018
CUI: C1527390
Disease: Neoplasms, Intracranial
Neoplasms, Intracranial
0.010 Biomarker group BEFREE Desmoplastic infantile astrocytoma/ganglioglioma (DIA/DIG) are rare primary glioneuronal tumors that comprise 0.5% to 1.0% of all intracranial tumors. 29902580 2018
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.010 Biomarker group BEFREE In the current study we evaluated automated DIA (D-Tek) for detecting autoantibodies related to autoimmune diseases of the gastrointestinal tract. 28522403 2017
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident
0.010 Biomarker group BEFREE AD, Alzheimer's disease; FAST, Functional Assessment Staging; 2D-DIGE, two-dimensional differential gel electrophoresis; MALDI-TOF/TOF/MS, matrix-assisted laser desorption ionization time-of-flight tandem mass spectrometry; CSF, cerebrospinal fluid; Aβ, amyloid beta; MMSE, Mini Mental State Examination; MRI, magnetic resonance imaging; NINCDS-ADRDA, National Institute for Neurological Diseases and Stroke/Alzheimer's Disease and Related Disorders Association; CHAPS, 3-((3-cholamidopropyl) dimethylammonio)-1-propanesulfonate; DTT, dithiothreitol; SDS-PAGE, SDS-polyacrylamide gel electrophoresis; DIA, differential in-gel analysis; BVA, biological variation analysis; CBB, Coomassie brilliant blue; 2DE, two-dimensional gel electrophoresis; TFA, trifluoroacetic acid; ACTH, adrenocorticotropic hormone; Apo A-1, apolipoprotein A-1; AHSG, alpha-2-HS-glycoprotein; Apo A-4, apolipoprotein A-4; MCI, mild cognitive impairment. 28107809 2017
CUI: C3888194
Disease: MIXED LINEAGE LEUKEMIA
MIXED LINEAGE LEUKEMIA
0.010 Biomarker disease BEFREE We demonstrate robust detection of sequence changes in 49 genes, including difficult-to-detect mutations such as FLT3 internal-tandem and mixed-lineage leukemia (MLL) partial-tandem duplications, and clinically significant chromosomal rearrangements including MLL translocations to known and unknown partners, identifying the novel fusion gene MLL-DIAPH2 in the process. 27121471 2016
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.010 Biomarker group BEFREE Desmoplastic infantile astrocytoma/ganglioglioma (DIA/DIG) is a rare primary neuroepithelial brain tumour typically affecting paediatric patients younger than 24 months. 23822828 2014
CUI: C0019196
Disease: Hepatitis C
Hepatitis C
0.010 Biomarker disease BEFREE HCV antibody was tested using third generation EIA (DIA.PRO Diagnostic, Bioprobes srl, Milan, Italy). 23538773 2013
CUI: C3839507
Disease: Diminished ovarian reserve
Diminished ovarian reserve
0.010 Biomarker disease BEFREE This was a cross-sectional survey of women with elevated follicle stimulating hormone levels with (premature ovarian failure or early menopause [POF/EM], n = 20) or without (diminished ovarian reserve [DOR], n = 20) amenorrhea.Seventy-five percent participated. 16522406 2006
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.020 Biomarker group BEFREE In conclusion, we report that DIAPH2 alterations are present primarily in metastasizing specimens of LSCC and suggest that they may contribute to the metastatic potential of the tumor. 30793164 2019