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: C0025322
Disease: Premature Menopause
Premature Menopause 		0.190 GeneticVariation disease BEFREE We found that a SNP (rs10521496) covered by DIAPH2, known to cause premature ovarian failure (POF) in females, is associated with age-related macular degeneration. 17549761 2007
CUI: C0025322
Disease: Premature Menopause
Premature Menopause 		0.190 GeneticVariation disease BEFREE Six deleterious variants in POF genes were also detected which might explain the pathogenesis of POF with abnormalities in the sex chromosomes. 27989800 2016
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature 		0.080 GeneticVariation disease BEFREE We found that a SNP (rs10521496) covered by DIAPH2, known to cause premature ovarian failure (POF) in females, is associated with age-related macular degeneration. 17549761 2007
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature 		0.080 GeneticVariation disease BEFREE Six deleterious variants in POF genes were also detected which might explain the pathogenesis of POF with abnormalities in the sex chromosomes. 27989800 2016
CUI: C0206716
Disease: Ganglioglioma
Ganglioglioma 		0.020 GeneticVariation disease 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: C0206716
Disease: Ganglioglioma
Ganglioglioma 		0.020 GeneticVariation disease 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: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.020 GeneticVariation disease BEFREE We found that a SNP (rs10521496) covered by DIAPH2, known to cause premature ovarian failure (POF) in females, is associated with age-related macular degeneration. 17549761 2007
CUI: C1332969
Disease: Childhood Ganglioglioma
Childhood Ganglioglioma 		0.020 GeneticVariation disease 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: C1332969
Disease: Childhood Ganglioglioma
Childhood Ganglioglioma 		0.020 GeneticVariation disease 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: 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: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
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: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
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: 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: C0271737
Disease: Addison's disease due to autoimmunity
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: 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
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: 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
CUI: C1845293
Disease: Premature Ovarian Failure 2a
Premature Ovarian Failure 2a 		0.500 Biomarker disease CTD_human
CUI: C1845293
Disease: Premature Ovarian Failure 2a
Premature Ovarian Failure 2a 		0.500 Biomarker disease GENOMICS_ENGLAND A human homologue of the Drosophila melanogaster diaphanous gene is disrupted in a patient with premature ovarian failure: evidence for conserved function in oogenesis and implications for human sterility. 9497258 1998
CUI: C0025322
Disease: Premature Menopause
Premature Menopause 		0.190 Biomarker disease BEFREE Our breakpoint mapping data will help to identify additional candidate POF genes and to delineate the Xq POF critical region(s). 10894934 2000
CUI: C0025322
Disease: Premature Menopause
Premature Menopause 		0.190 Biomarker disease BEFREE Our results indicated that DIAPH2 may be a polygenic pleiotropy for POF and AMD. 21386871 2011
CUI: C0025322
Disease: Premature Menopause
Premature Menopause 		0.190 Biomarker disease BEFREE This comprehensive review first examines where and how the dogma of a finite pool was established, how this has been challenged over the years and addresses the most pertinent questions as to the current status of their existence, their role in female fertility, and perhaps most importantly, if they do exist, how can we harness these cells to improve a woman's oocyte reserve and treat conditions such as premature ovarian insufficiency (POI: also known as premature ovarian failure, POF). 28389520 2017
CUI: C0025322
Disease: Premature Menopause
Premature Menopause 		0.190 Biomarker disease BEFREE Premature ovarian failure / primary ovarian insufficiency (POF/POI) associated with the mutations of the FMR1 (Fragile-X Mental Retardation 1) gene belongs to the group of the so-called trinucleotide expansion diseases. 29986653 2018
CUI: C0025322
Disease: Premature Menopause
Premature Menopause 		0.190 Biomarker disease BEFREE We propose that the human DIA gene is one of the genes responsible for POF and that it affects the cell divisions that lead to ovarian follicle formation. 9497258 1998
CUI: C0025322
Disease: Premature Menopause
Premature Menopause 		0.190 Biomarker disease HPO