All individuals with variants in gene ALPL

655 entries on 7 pages. Showing entries 1 - 100.
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Population     

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Disease     

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00000020 - PubMed: Bell 2011 - - - - - - 0 - - - - 1 1 Global Variome, with Curator vacancy
00000021 - PubMed: Bell 2011 - - - - - - 0 - - BMD/DMD - 1 1 Global Variome, with Curator vacancy
00000022 - PubMed: Bell 2011 - - - - - - 0 - - BMD/DMD - 1 1 Global Variome, with Curator vacancy
00000023 - PubMed: Bell 2011 - - - - - - 0 - - BMD/DMD - 1 1 Global Variome, with Curator vacancy
00050634 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - 0 Decipher - ? supraventricular tachycardia, mild short stature, clinodactyly of the 5th finger, specific learning disability 1 1 Johan den Dunnen
00080151 - PubMed: Muhn et al.2013 - M ? - (not applicable) - - 0 - - ACRDYS1 PTH resistance, short stature, brachydactily, cone-shaped epiphyses, FSH resistance 1 1 Francesca Marta Elli
00080152 - PubMed: Nagasaki et al.2012 - F no (Japan) - - 0 - - ACRDYS1 PTH resistance, TSH resistance, short stature, dysmorphic facies, brachydactily, mental retardation, IUGR, cone-shaped epiphyses 1 1 Francesca Marta Elli
00143197 - - - F - - - - 0 - - HPPA - 1 1 Dr. Alexandra Wey-Fabrizius
00143761 - - - F - - - - 0 - - HPPA - 2 1 Dr. Alexandra Wey-Fabrizius
00289720 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00289721 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00289722 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 2 Mohammed Faruq
00289723 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 36 Mohammed Faruq
00295999 - - - M - - - - 0 - - ? Osteopenia (HP:0000938); Abnormality of bone mineral density (HP:0004348) 1 1 Andreas Laner
00304182 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00305896 11 - - M - China - - 0 - - ? - 2 1 Sha Hong
00307318 - - - M - - - - 0 - - ? Hypophosphatemia (HP:0002148); Intellectual disability (HP:0001249); Delayed speech and language development (HP:0000750); Myopathy (HP:0003198); Muscular hypotonia (HP:0001252); Premature loss of primary teeth (HP:0006323) 1 1 IMGAG
00324527 - PubMed: Mornet 2000 - - - France - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00324528 - PubMed: Greenberg 1993 - - - Canada - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00324529 - PubMed: Mumm 2002 - - - United States - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00324530 - Versailles lab 2011 - - - France - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00324531 - PubMed: Henthorn 1992 - - - United States - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00324532 - PubMed: Mornet 2000 - - - France - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00324533 - PubMed: Mornet 2000 - - - France - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00324534 - PubMed: Mornet 2000 - - - France - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00324535 - copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database - - - France - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00324536 - PubMed: Mornet 2000 - - - France - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00324537 - copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database - - - France - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00324538 - PubMed: Orimo 1997 - - - Japan - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00324539 - PubMed: Henthorn 1992 - - - United States - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00324540 - copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database - - - France - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00324541 - Versailles lab 2011 - - - France - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00324542 - copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database - - - France - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00324543 - PubMed: Greenberg 1993 - - - Canada - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00324544 - PubMed: Mornet 2000 - - - France - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00324546 Pat7 PubMed: Spentchian 2006 - - - Portugal - - 0 - - HPP perinatal; asymptomatic, repeatedly low serum alkaline phosphatase, no hypophosphatasia clinical symptom 1 1 Johan den Dunnen
00324547 patient PubMed: Hacihamdioglu 2018 2-generation family, 1 affected unaffected heterozygous carrier parents M yes Turkey - - 0 - - HPP see paper; ..., perinatal 1 1 Johan den Dunnen
00324549 patient copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, H Mateus, Alexion Pharmaceuticals (USA) - - - United States - - 0 - - HPP infantile 2 1 Johan den Dunnen
00324550 patient copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab July 2013 - - - France - - 0 - - HPP perinatal 1 1 Johan den Dunnen
00324551 patient copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab - - - France - - 0 - - HPP infantile 2 1 Johan den Dunnen
00324552 patient copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab July 2012 - - - France - - 0 - - HPP perinatal 1 1 Johan den Dunnen
00324553 patient copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab Dec. 2015 - - - France - - 0 - - HPP prenatal, asymptomatic, repeatedly low serum alkaline phosphatase, no hypophosphatasia clinical symptom 2 1 Johan den Dunnen
00324554 Pat8 PubMed: Spentchian 2006 - - - Germany - - 0 - - HPP infantile 2 1 Johan den Dunnen
00324555 patient copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab Nov. 2018 - - - France - - 0 - - HPP adult 1 1 Johan den Dunnen
00324556 patient copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, I Rau, Hamburg, Germany - - - Germany - - 0 - - HPP adult 1 1 Johan den Dunnen
00324557 patient copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab April 2018 - - - France - - 0 - - HPP adult 1 1 Johan den Dunnen
00324558 - PubMed: Whyte 2015 - - - United States - - 0 - - HPP odonto 1 2 Johan den Dunnen
00324559 - PubMed: Whyte 2015 - - - United States - - 0 - - HPP odonto 1 1 Johan den Dunnen
00324647 Pat1 PubMed: Spentchian 2006 - - - Czech Republic - - 0 - - HPP perinatal 2 1 Johan den Dunnen
00324648 Pat2 PubMed: Spentchian 2006 - - - England - - 0 - - HPP perinatal 2 1 Johan den Dunnen
00324649 Pat3 PubMed: Spentchian 2006 - - - Netherlands - - 0 - - HPP adult 2 1 Johan den Dunnen
00324650 Pat4 PubMed: Spentchian 2006 - - - Turkey - - 0 - - HPP infantile 1 1 Johan den Dunnen
00324651 Pat5 PubMed: Spentchian 2006 - - - Germany - - 0 - - HPP perinatal 2 1 Johan den Dunnen
00324652 Pat6 PubMed: Spentchian 2006 - - - England - - 0 - - HPP perinatal 2 1 Johan den Dunnen
00324665 PatA PubMed: Spentchian 2003, Journal: Spentchian 2003 - - - Turkey - - 0 - - HPP infantile 1 1 Johan den Dunnen
00324666 PatB PubMed: Spentchian 2003, Journal: Spentchian 2003 - - - United States - - 0 - - HPP perinatal 2 1 Johan den Dunnen
00324667 PatC PubMed: Spentchian 2003, Journal: Spentchian 2003 - - - Turkey - - 0 - - HPP perinatal 1 1 Johan den Dunnen
00324668 PatD PubMed: Spentchian 2003, Journal: Spentchian 2003 - - - Sweden - - 0 - - HPP perinatal 2 1 Johan den Dunnen
00324669 PatE PubMed: Spentchian 2003, Journal: Spentchian 2003 - - - Pakistan - - 0 - - HPP perinatal 1 1 Johan den Dunnen
00324670 PatF PubMed: Spentchian 2003, Journal: Spentchian 2003 - - - Croatia (Hrvatska) - - 0 - - HPP perinatal 1 1 Johan den Dunnen
00324671 PatG PubMed: Spentchian 2003, Journal: Spentchian 2003 - - - Lebanon - - 0 - - HPP perinatal 1 1 Johan den Dunnen
00324672 PatH PubMed: Spentchian 2003, Journal: Spentchian 2003 - - - England - - 0 - - HPP perinatal 2 1 Johan den Dunnen
00324673 PatJ PubMed: Spentchian 2003, Journal: Spentchian 2003 - - - Serbia - - 0 - - HPP infantile 1 1 Johan den Dunnen
00324674 PatK PubMed: Spentchian 2003, Journal: Spentchian 2003 - - - Germany - - 0 - - HPP perinatal 2 1 Johan den Dunnen
00324675 PatL PubMed: Spentchian 2003, Journal: Spentchian 2003 - - - Romania - - 0 - - HPP infantile 2 1 Johan den Dunnen
00324687 patient PubMed: Mentrup 2016 2-generation family, 1 affected unaffected heterozygous carrier parents M yes Germany Turkey - 0 - - HPP see paper; ..., infantile 6 1 Johan den Dunnen
00324688 twins PubMed: Martins 2013 3-generation family, affected twin brothers, unaffected heterozygous carrier parents M - Brazil - - 0 - - HPP see paper; ..., odonto 2 2 Johan den Dunnen
00324691 - copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab June 2017 - - - France - - 0 - - HPP infantile 1 1 Johan den Dunnen
00324692 - copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab March 2013 - - - France - - 0 - - HPP perinatal 1 1 Johan den Dunnen
00324693 - copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab Nov 2008 - - - France - - 0 - - HPP perinatal 1 1 Johan den Dunnen
00324694 - PubMed: del Angel 2020 - - - - - - 0 - - HPP adult 1 1 Johan den Dunnen
00324695 - PubMed: Saglam 2017 - - - - - - 0 - - HPP perinatal 1 1 Johan den Dunnen
00324696 - PubMed: del Angel 2020 - - - - - - 0 - - HPP perinatal 1 1 Johan den Dunnen
00324697 - PubMed: Saglam 2017 - - - - - - 0 - - HPP perinatal 1 1 Johan den Dunnen
00324698 - copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, S. Brugger and T. Brown (Alexion) - - - - - - 0 - - HPP mild form, low AP and unspecific symptoms 1 1 Johan den Dunnen
00324699 - copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab dec. 2014 - - - France - - 0 - - HPP infantile 1 1 Johan den Dunnen
00324700 - copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab Jul 2009 - - - France - - 0 - - HPP perinatal 1 1 Johan den Dunnen
00324701 - copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab Apr 2011 - - - France - - 0 - - HPP infantile 1 1 Johan den Dunnen
00324702 - PubMed: Zhang 2012 - - - - - - 0 - - HPP adult 1 1 Johan den Dunnen
00324703 - PubMed: del Angel 2020 - - - - - - 0 - - HPP perinatal 1 1 Johan den Dunnen
00324704 - PubMed: Balasubramaniam 2010 - - - - - - 0 - - HPP perinatal 1 1 Johan den Dunnen
00324705 - copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Bone Metabolism Unit, IRCCS, Milano - - - Italy - - 0 - - HPP adult 1 1 Johan den Dunnen
00324706 HPP35 PubMed: Riancho-Zarrabeitia 2016 - - - Spain - - 0 - - HPP asymtomatic or very mild symptoms 1 1 Johan den Dunnen
00324707 - PubMed: Mao 2019 - - - - - - 0 - - HPP infantile 1 1 Johan den Dunnen
00324708 - PubMed: Taillandier 2000 - - - - - - 0 - - HPP perinatal 1 1 Johan den Dunnen
00324709 - PubMed: del Angel 2020 - - - - - - 0 - - HPP infantile 1 1 Johan den Dunnen
00324710 Na1 PubMed: Mornet 1998 - - - Turkey - - 0 - - HPP perinatal 1 1 Johan den Dunnen
00324711 - PubMed: Weiss 1988 - - - - - - 0 - - HPP perinatal 1 1 Johan den Dunnen
00324712 - PubMed: del Angel 2020 - - - - - - 0 - - HPP infantile 1 1 Johan den Dunnen
00324713 - copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab Oct. 2004 - - - France - - 0 - - HPP perinatal 1 1 Johan den Dunnen
00324714 - copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab april 2009 - - - France - - 0 - - HPP perinatal 1 1 Johan den Dunnen
00324715 - copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab Dec 2011 - - - France - - 0 - - HPP perinatal 1 1 Johan den Dunnen
00324716 - PubMed: Saraff 2016 - - - - - - 0 - - HPP asymptomatic 1 1 Johan den Dunnen
00324717 - PubMed: Brun-Heath 2005 - - - - - - 0 - - HPP infantile 1 1 Johan den Dunnen
00324718 - PubMed: Taillandier 1999 - - - - - - 0 - - HPP infantile 1 1 Johan den Dunnen
00324719 - copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab Jun 2010 - - - France - - 0 - - HPP perinatal 1 1 Johan den Dunnen
00324720 - copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab Oct. 2003 - - - France - - 0 - - HPP infantile 1 1 Johan den Dunnen
00324721 - PubMed: Taillandier 1999 - - - - - - 0 - - HPP infantile 1 1 Johan den Dunnen
00324722 - copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab Jul 2008 - - - France - - 0 - - HPP perinatal 1 1 Johan den Dunnen
00324723 - PubMed: Brun-Heath 2005 - - - - - - 0 - - HPP perinatal 1 1 Johan den Dunnen
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