All individuals with variants in gene ACADM

81 entries on 1 page. Showing entries 1 - 81.
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AscendingIndividual ID     

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Remarks     

Gender     

Consanguinity     

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Age at death     

VIP     

Data_av     

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Phenotype details     

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Owner     
00000005 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000006 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000007 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000008 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000009 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000010 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00181009 - - - - - - - - - - - ACADMD - 2 1 Belen Perez
00181010 - - - - - - - - - - - ACADMD - 2 1 Belen Perez
00181059 - - - - - - - - - - - ACADMD - 1 1 Belen Perez
00181061 - - - - - - - - - - - ACADMD - 1 1 Belen Perez
00181062 - - - - - - - - - - - ACADMD - 1 1 Belen Perez
00289917 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 2 Mohammed Faruq
00289918 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00289919 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 31 Mohammed Faruq
00289920 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 5 Mohammed Faruq
00295114 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 2 Mohammed Faruq
00309845 M001 PubMed: Roman 2020, Journal: Roman 2020 new-born screening - - United States - - - - - ACADMD see paper; ... 2 1 Johan den Dunnen
00309850 M006 PubMed: Roman 2020, Journal: Roman 2020 new-born screening - - United States - - - - - ACADMD see paper; ... 1 1 Johan den Dunnen
00309852 M008 PubMed: Roman 2020, Journal: Roman 2020 new-born screening - - United States - - - - - ACADMD see paper; ... 1 1 Johan den Dunnen
00309856 M012 PubMed: Roman 2020, Journal: Roman 2020 new-born screening - - United States - - - - - ACADMD see paper; ... 1 1 Johan den Dunnen
00309857 M013 PubMed: Roman 2020, Journal: Roman 2020 new-born screening - - United States - - - - - ACADMD see paper; ... 1 1 Johan den Dunnen
00309860 M016 PubMed: Roman 2020, Journal: Roman 2020 new-born screening - - United States - - - - - ACADMD see paper; ... 1 1 Johan den Dunnen
00309861 M017 PubMed: Roman 2020, Journal: Roman 2020 new-born screening - - United States - - - - - ACADMD see paper; ... 2 1 Johan den Dunnen
00335784 MCADD_P1 - - M no China Chinese - - - - ACADMD convulsion coma 2 1 Wenjuan Qiu
00335785 ACADM-P2 - - F - China - - - - - ACADMD diarrhea vomiting convulsion 2 1 Wenjuan Qiu
00335786 ACADM-P3 - - M - China - - - - - ACADMD lethargy, hypoglycemia 1 1 Wenjuan Qiu
00335787 ACADM-P4 - - M - China - - - - - ACADMD Vomiting diarrhea convulsion 2 1 Wenjuan Qiu
00335788 ACADM-P5 - - M - China - - - - - ACADMD - 2 1 Wenjuan Qiu
00335789 ACADM-P6 - - F - China - - - - - ACADMD fever, lethargy hypoglycemia 1 1 Wenjuan Qiu
00335790 ACADM-N1 - - - - China - - - - - ACADMD - 2 1 Wenjuan Qiu
00335791 ACADM-N2 - - - - China - - - - - ACADMD - 2 1 Wenjuan Qiu
00335792 ACADM-N3 - - M - China - - - - - ACADMD - 1 1 Wenjuan Qiu
00335793 ACADM-N4 - - F - China - - - - - ACADMD - 2 1 Wenjuan Qiu
00335794 ACADM-N5 - - - - - - - - - - ACADMD - 2 1 Wenjuan Qiu
00335796 ACADM-N7 - - M - China - - - - - ACADMD - 2 1 Wenjuan Qiu
00335798 ACADM-N8 - - F - - - - - - - ACADMD - 2 1 Wenjuan Qiu
00335799 ACADM-N10 - - F - China - - - - - ACADMD - 2 1 Wenjuan Qiu
00335800 ACADM-N11 - - F - China - - - - - ACADMD - 1 1 Wenjuan Qiu
00335801 ACADM-N12 - - M - China - - - - - ACADMD - 1 1 Wenjuan Qiu
00335802 ACADM-N13 - - M - China - - - - - ACADMD - 2 1 Wenjuan Qiu
00335803 ACADM-N14 - - F - China - - - - - ACADMD - 1 1 Wenjuan Qiu
00335804 ACADM-N15 - - M - China - - - - - ACADMD - 1 1 Wenjuan Qiu
00335805 ACADM-N16 - - - - - - - - - - ACADMD - 2 1 Wenjuan Qiu
00335806 ACADM-N17 - - F - China - - - - - ACADMD - 1 1 Wenjuan Qiu
00335807 ACADM-N18 - - - - - - - - - - ACADMD - 2 1 Wenjuan Qiu
00414704 NA01210 PubMed: Bell 2011 - ? - - - - - - - retinal disease - 1 1 LOVD
00414706 NA03575 PubMed: Bell 2011 - ? - - - - - - - retinal disease - 1 1 LOVD
00451464 3bINP-044 PubMed: Vela-Amieva 2024 Parents with consanguinity and consanguinity (not molecularly tested) F yes Mexico Mexican - - - - ACADMD - 2 1 Miriam Erandi Reyna-Fabián
00451598 3bINP-052 PubMed: Vela-Amieva 2024 - F no Mexico Mexican - - - - ACADSD Blue sclerae 1 1 Miriam Erandi Reyna-Fabián
00452234 - PubMed: Wang 2019 screening 401,660 newborns for inborn errors of metabolism - - China - - - - - ? - 1 2 Johan den Dunnen
00452235 - PubMed: Wang 2019 screening 401,660 newborns for inborn errors of metabolism - - China - - - - - ? - 1 1 Johan den Dunnen
00452236 - PubMed: Wang 2019 screening 401,660 newborns for inborn errors of metabolism - - China - - - - - ? - 1 1 Johan den Dunnen
00452237 - PubMed: Wang 2019 screening 401,660 newborns for inborn errors of metabolism - - China - - - - - ? - 1 1 Johan den Dunnen
00452238 - PubMed: Wang 2019 screening 401,660 newborns for inborn errors of metabolism - - China - - - - - ? - 1 1 Johan den Dunnen
00452239 - PubMed: Wang 2019 screening 401,660 newborns for inborn errors of metabolism - - China - - - - - ? - 1 1 Johan den Dunnen
00452240 - PubMed: Wang 2019 screening 401,660 newborns for inborn errors of metabolism - - China - - - - - ? - 1 1 Johan den Dunnen
00452241 - PubMed: Wang 2019 screening 401,660 newborns for inborn errors of metabolism - - China - - - - - ? - 1 1 Johan den Dunnen
00453589 Pat5 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - metabolic syndrome see paper; ..., newborn screening tandem mass spectrometry dried blood spots 2 1 Johan den Dunnen
00453590 Pat6 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - metabolic syndrome see paper; ..., newborn screening tandem mass spectrometry dried blood spots 1 1 Johan den Dunnen
00453591 Pat7 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - metabolic syndrome see paper; ..., newborn screening tandem mass spectrometry dried blood spots 1 1 Johan den Dunnen
00453592 Pat8 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - metabolic syndrome see paper; ..., newborn screening tandem mass spectrometry dried blood spots 1 1 Johan den Dunnen
00453593 Pat9 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - metabolic syndrome see paper; ..., newborn screening tandem mass spectrometry dried blood spots 2 1 Johan den Dunnen
00453594 Pat10 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - metabolic syndrome see paper; ..., newborn screening tandem mass spectrometry dried blood spots 2 1 Johan den Dunnen
00453595 Pat11 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - metabolic syndrome see paper; ..., newborn screening tandem mass spectrometry dried blood spots 2 1 Johan den Dunnen
00453596 Pat12 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - metabolic syndrome see paper; ..., newborn screening tandem mass spectrometry dried blood spots 2 1 Johan den Dunnen
00453668 Pat84 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - metabolic syndrome see paper; ..., newborn screening tandem mass spectrometry dried blood spots 1 1 Johan den Dunnen
00453671 Pat87 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - metabolic syndrome see paper; ..., newborn screening tandem mass spectrometry dried blood spots 1 1 Johan den Dunnen
00453672 Pat88 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - metabolic syndrome see paper; ..., newborn screening tandem mass spectrometry dried blood spots 1 1 Johan den Dunnen
00453673 Pat89 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - metabolic syndrome see paper; ..., newborn screening tandem mass spectrometry dried blood spots 1 1 Johan den Dunnen
00453674 Pat90 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - metabolic syndrome see paper; ..., newborn screening tandem mass spectrometry dried blood spots 1 1 Johan den Dunnen
00453675 Pat91 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - metabolic syndrome see paper; ..., newborn screening tandem mass spectrometry dried blood spots 1 1 Johan den Dunnen
00453676 Pat92 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - metabolic syndrome see paper; ..., newborn screening tandem mass spectrometry dried blood spots 1 1 Johan den Dunnen
00453677 Pat93 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - metabolic syndrome see paper; ..., newborn screening tandem mass spectrometry dried blood spots 1 1 Johan den Dunnen
00453678 Pat94 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - metabolic syndrome see paper; ..., newborn screening tandem mass spectrometry dried blood spots 1 1 Johan den Dunnen
00453679 Pat95 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - metabolic syndrome see paper; ..., newborn screening tandem mass spectrometry dried blood spots 1 1 Johan den Dunnen
00453680 Pat96 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - metabolic syndrome see paper; ..., newborn screening tandem mass spectrometry dried blood spots 1 1 Johan den Dunnen
00457563 Pat6 PubMed: Kang 2018 - - - Korea - - - - - ? newborn screening; asymptomatic 2 1 Johan den Dunnen
00457564 Pat7 PubMed: Kang 2018 - - - Korea - - - - - ? newborn screening; asymptomatic 2 1 Johan den Dunnen
00457565 Pat8 PubMed: Kang 2018 - - - Korea - - - - - ? newborn screening; asymptomatic 2 1 Johan den Dunnen
00457566 Pat9 PubMed: Kang 2018 - - - Korea - - - - - ? newborn screening; asymptomatic 2 1 Johan den Dunnen
00457567 Pat10 PubMed: Kang 2018 - - - Korea - - - - - ? newborn screening; asymptomatic 1 1 Johan den Dunnen
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