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 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 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 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 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: 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 AlteredExpression 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: C0025322
Disease: Premature Menopause
Premature Menopause
0.190 Biomarker disease BEFREE Previous studies have demonstrated that transplantation of hAECs effectively alleviate chemotherapy-induced ovarian damage via inhibiting granulose cells apoptosis in animal models of premature ovarian failure/insufficiency (POF/POI). 29179771 2017
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature
0.080 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: 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 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: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature
0.080 Biomarker disease BEFREE Our results indicated that DIAPH2 may be a polygenic pleiotropy for POF and AMD. 21386871 2011
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature
0.080 Biomarker disease BEFREE Mutations in MCM8/9 correlate principally with primary ovarian failure/insufficiency (POF/POI) and infertility indicating a meiotic defect. 30743181 2019
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature
0.080 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: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature
0.080 Biomarker disease BEFREE Previous studies have demonstrated that transplantation of hAECs effectively alleviate chemotherapy-induced ovarian damage via inhibiting granulose cells apoptosis in animal models of premature ovarian failure/insufficiency (POF/POI). 29179771 2017
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: C0004936
Disease: Mental disorders
Mental disorders
0.040 Biomarker group BEFREE Both the short screening questionnaire and the standardized interview from the DIA-X expert system were used for diagnosing mental disorders. 30416461 2018
CUI: C0004936
Disease: Mental disorders
Mental disorders
0.040 Biomarker group 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: C0004936
Disease: Mental disorders
Mental disorders
0.040 Biomarker group BEFREE The computerized DIA-X CIDI Version 2.8 investigated in this study is an adaptation of the German DIA-X/Munich CIDI, which was translated in a multi-step process into Turkish and used to survey the prevalence of mental disorders in individuals with Turkish migration backgrounds in Germany (N = 662). 27766697 2017
CUI: C0004936
Disease: Mental disorders
Mental disorders
0.040 Biomarker group BEFREE The Dominic Interactive for Adolescents-Revised (DIA-R) is a multimedia self-report screen for 9 mental disorders, borderline personality traits, and suicidality defined by the fifth edition of the Diagnostic and Statistical Manual of Mental Disorders ( DSM-5). 27638424 2017
CUI: C0457179
Disease: Desmoplastic infantile astrocytoma
Desmoplastic infantile astrocytoma
0.030 Biomarker 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: C0457179
Disease: Desmoplastic infantile astrocytoma
Desmoplastic infantile astrocytoma
0.030 Biomarker disease 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: C0457179
Disease: Desmoplastic infantile astrocytoma
Desmoplastic infantile astrocytoma
0.030 Biomarker 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: C0027651
Disease: Neoplasms
Neoplasms
0.020 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