All individuals with variants in gene COL11A1

114 entries on 2 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2     Next › Last »

AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Variants     

Panel size     

Owner     
00002994 - - - - - - - - - - - ? progressive hearing loss with comorbidity 1 1 Marcel Nelen
00003006 - - - - - - - - - - - ? bowlshaped hearing loss 1 1 Marcel Nelen
00050547 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - 0 Decipher - ? global developmental delay, astigmatism, narrow mouth, dental crowding, narrow chest 1 1 Johan den Dunnen
00051539 - - - F no Brazil - - 0 - - ? - 1 1 Karina Silveira
00080062 - PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 - - - - - - - - - deafness - 1 1 Mieke Wesdorp
00080140 - PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 - - - - - - - - - deafness - 1 1 Mieke Wesdorp
00100069 PKRD077;61077 PubMed: Maranha 2015, Journal: Maranhao 2015, PubMed: Li 2017 - M yes Pakistan Pakistani - 0 - - RD early onset RD 1 1 James Hejtmancik
00100087 PKRD138;61138 PubMed: Maranha 2015, Journal: Maranhao 2015, PubMed: Li 2017 - F yes Pakistan Pakistani - 0 - - retinal disease RP, deafness 1 1 James Hejtmancik
00104003 Vogelaar-124A PubMed: Vogelaar 2017, Journal: Vogelaar 2017 54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer - - - - - 0 - - cancer, gastric diffuse-type or intestinal-type gastric cancer 1 1 Marjolijn JL Ligtenberg
00132073 1 - - F no Brazil - - 0 - - FBCG - 1 1 Karina Silveira
00238991 - - - F no - - - 0 - - STL-2 - 2 1 Allan Richards
00281846 - PubMed: Richards 2013 - - - - - - 0 - - STL - 1 1 Global Variome, with Curator vacancy
00281847 - PubMed: Acke 2014 - - - - - - 0 - - STL - 1 1 Global Variome, with Curator vacancy
00281848 - PubMed: Annunen 1999, PubMed: Xiong 2015 - - - - - - 0 - - ? stickler syndrome 1 1 Global Variome, with Curator vacancy
00281849 - PubMed: Richards 2010, PubMed: Xiong 2015 - - - - - - 0 - - STL - 1 1 Global Variome, with Curator vacancy
00281850 - PubMed: Poulson 2004, PubMed: Xiong 2015 - - - - - - 0 - - STL - 1 1 Global Variome, with Curator vacancy
00281851 - PubMed: Majava 2007 - - - - - - 0 - - ? stickler syndrome 1 1 Global Variome, with Curator vacancy
00281852 - PubMed: Richards 2013 - - - - - - 0 - - STL - 1 1 Global Variome, with Curator vacancy
00281853 - PubMed: Majava 2007, PubMed: Xiong 2015 - - - - - - 0 - - ? stickler syndrome 1 1 Global Variome, with Curator vacancy
00281854 - PubMed: Annunen 1999, PubMed: Xiong 2015 - - - - - - 0 - - ? - 1 1 Global Variome, with Curator vacancy
00281855 - PubMed: Akawi 2012 - - - - - - 0 - - ? - 1 1 Global Variome, with Curator vacancy
00281856 - PubMed: Majava 2007, PubMed: Xiong 2015 - - - - - - 0 - - ? stickler syndrome 1 1 Global Variome, with Curator vacancy
00281857 - PubMed: Poulson 2004, PubMed: Xiong 2015 - - - - - - 0 - - STL - 1 1 Global Variome, with Curator vacancy
00281858 - PubMed: Annunen 1999 - - - - - - 0 - - ? stickler syndrome 1 1 Global Variome, with Curator vacancy
00281859 - PubMed: Tompson 2010, PubMed: Xiong 2015 - - - - - - 0 - - ? - 1 1 Global Variome, with Curator vacancy
00281860 - PubMed: Acke 2014 - - - - - - 0 - - STL - 1 1 Global Variome, with Curator vacancy
00281861 - PubMed: Annunen 1999, PubMed: Xiong 2015 - - - - - - 0 - - ? - 1 1 Global Variome, with Curator vacancy
00281862 - PubMed: Annunen 1999 - - - - - - 0 - - ? - 1 1 Global Variome, with Curator vacancy
00281863 - PubMed: Annunen 1999 - - - - - - 0 - - ? - 1 1 Global Variome, with Curator vacancy
00281864 - PubMed: Majava 2007, PubMed: Ala-Kokko 2009, PubMed: MARSHALL 1958, PubMed: Shanske 1998, PubMed: Shanske 1997, PubMed: Griffith 1998, PubMed: Xiong 2015 - - - - - - 0 - - ? - 1 1 Global Variome, with Curator vacancy
00281865 - PubMed: Annunen 1999, PubMed: Xiong 2015 - - - - - - 0 - - ? - 1 1 Global Variome, with Curator vacancy
00281866 - PubMed: Acke 2014 - - - - - - 0 - - STL - 1 1 Global Variome, with Curator vacancy
00281867 - - - - - - - - 0 - - - - 1 1 Global Variome, with Curator vacancy
00281868 - PubMed: Akawi 2012, PubMed: Akawi 2013 - - - - - - 0 - - ? - 1 1 Global Variome, with Curator vacancy
00281869 - PubMed: Annunen 1999, PubMed: Xiong 2015 - - - - - - 0 - - ? - 1 1 Global Variome, with Curator vacancy
00281870 - PubMed: Acke 2014 - - - - - - 0 - - STL - 1 1 Global Variome, with Curator vacancy
00281871 - PubMed: Hufnagel 2014 - - - - - - 0 - - ? - 1 1 Global Variome, with Curator vacancy
00281872 - PubMed: Melkoniemi 2003, PubMed: Xiong 2015 - - - - - - 0 - - ? - 1 1 Global Variome, with Curator vacancy
00281873 - PubMed: Annunen 1999, PubMed: Xiong 2015 - - - - - - 0 - - ? - 1 1 Global Variome, with Curator vacancy
00281874 - PubMed: Richards 2012 - - - - - - 0 - - STL - 1 1 Global Variome, with Curator vacancy
00281875 - PubMed: Tompson 2010 - - - - - - 0 - - ? - 1 1 Global Variome, with Curator vacancy
00281876 - PubMed: Acke 2014 - - - - - - 0 - - STL - 1 1 Global Variome, with Curator vacancy
00281877 - PubMed: Richards 2010 - - - - - - 0 - - STL - 1 1 Global Variome, with Curator vacancy
00281878 - PubMed: Tompson 2010, PubMed: Xiong 2015 - - - - - - 0 - - ? - 1 1 Global Variome, with Curator vacancy
00281879 - PubMed: Richards 2010, PubMed: Xiong 2015 - - - - - - 0 - - STL - 1 1 Global Variome, with Curator vacancy
00281880 - PubMed: Annunen 1999, PubMed: Zlotogora 1992 - - - - - - 0 - - ? stickler syndrome 1 1 Global Variome, with Curator vacancy
00281881 - PubMed: Annunen 1999, PubMed: Xiong 2015 - - - - - - 0 - - ? - 1 1 Global Variome, with Curator vacancy
00281882 - PubMed: Annunen 1999, PubMed: Xiong 2015 - - - - - - 0 - - ? - 1 1 Global Variome, with Curator vacancy
00281883 - PubMed: Annunen 1999 - - - - - - 0 - - ? stickler syndrome 1 1 Global Variome, with Curator vacancy
00281884 - PubMed: Richards 2010, PubMed: Xiong 2015 - - - - - - 0 - - STL - 1 1 Global Variome, with Curator vacancy
00281885 - PubMed: Miyagawa 2013 - - - - - - 0 - - deafness - 1 1 Global Variome, with Curator vacancy
00281886 - PubMed: Khalifa 2012 - - - - - - 0 - - ? - 1 1 Global Variome, with Curator vacancy
00281887 - PubMed: Richards 2013 - - - - - - 0 - - STL - 1 1 Global Variome, with Curator vacancy
00281888 - PubMed: Melkoniemi 2003 - - - - - - 0 - - ? - 1 1 Global Variome, with Curator vacancy
00281889 - PubMed: Yuen 2015 - - - - - - 0 - - autism - 1 1 Global Variome, with Curator vacancy
00281890 - PubMed: Tompson 2010 - - - - - - 0 - - ? - 1 1 Global Variome, with Curator vacancy
00281891 - PubMed: Tompson 2010 - - - - - - 0 - - ? - 1 1 Global Variome, with Curator vacancy
00281892 - PubMed: Richards 2010, PubMed: Xiong 2015 - - - - - - 0 - - STL - 1 1 Global Variome, with Curator vacancy
00281893 - PubMed: Annunen 1999, PubMed: Xiong 2015 - - - - - - 0 - - ? stickler syndrome 1 1 Global Variome, with Curator vacancy
00281894 - PubMed: Acke 2014 - - - - - - 0 - - STL - 1 1 Global Variome, with Curator vacancy
00281895 - PubMed: Richards 2010, PubMed: Xiong 2015 - - - - - - 0 - - STL - 1 1 Global Variome, with Curator vacancy
00281896 - PubMed: Robin 1993, PubMed: Richards 1996, PubMed: Xiong 2015 - - - - - - 0 - - STL - 1 1 Global Variome, with Curator vacancy
00281897 - PubMed: Richards 2010, PubMed: Xiong 2015 - - - - - - 0 - - STL - 1 1 Global Variome, with Curator vacancy
00281898 - PubMed: Acke 2014 - - - - - - 0 - - STL - 1 1 Global Variome, with Curator vacancy
00281899 - PubMed: Tompson 2010 - - - - - - 0 - - ? - 1 1 Global Variome, with Curator vacancy
00281900 - PubMed: Richards 2010 - - - - - - 0 - - STL - 1 1 Global Variome, with Curator vacancy
00281901 - PubMed: Richards 2010, PubMed: Xiong 2015 - - - - - - 0 - - STL - 1 1 Global Variome, with Curator vacancy
00281902 - PubMed: Acke 2014 - - - - - - 0 - - STL - 1 1 Global Variome, with Curator vacancy
00281903 - PubMed: Martin 1999 - - - - - - 0 - - STL - 1 1 Global Variome, with Curator vacancy
00281904 - PubMed: Acke 2014 - - - - - - 0 - - STL - 1 1 Global Variome, with Curator vacancy
00281905 - PubMed: Richards 2013 - - - - - - 0 - - STL - 1 1 Global Variome, with Curator vacancy
00281906 - PubMed: Alzahrani 2012 - - - - - - 0 - - ? - 1 1 Global Variome, with Curator vacancy
00281907 - PubMed: Richards 2013 - - - - - - 0 - - STL - 1 1 Global Variome, with Curator vacancy
00281908 - PubMed: Bean 2013 - - - - - - 0 - - - - 1 1 Global Variome, with Curator vacancy
00281909 - PubMed: Tilson MD 3rd 2006 - - - - - - 0 - - ? - 1 1 Global Variome, with Curator vacancy
00281910 - PubMed: Miyagawa 2013 - - - - - - 0 - - deafness - 1 1 Global Variome, with Curator vacancy
00281911 - PubMed: Bean 2013 - - - - - - 0 - - - - 1 1 Global Variome, with Curator vacancy
00289463 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00289464 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 123 Mohammed Faruq
00304132 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 3 Mohammed Faruq
00306776 - - - M - - - - 0 - - ? Hearing impairment (HP:0000365) 1 1 IMGAG
00309810 Family 1 PubMed: Rad 2020 family, 2 affected F;M no Germany - - 0 - - DFNA DFNA37 1 2 Barbara Vona
00309811 Family 2 PubMed: Rad 2020 family, 2 affected F;M no Germany - - 0 - - DFNA DFNA37 1 2 Barbara Vona
00309838 Family 1 PubMed: Rad 2020 2nd case F;M no Germany - - 0 - - DFNA DFNA37 1 1 Barbara Vona
00309839 Family 2 PubMed: Rad 2020 2nd case F;M no Germany - - 0 - - DFNA DFNA37 1 1 Barbara Vona
00311014 - - - F ? Italy - - 0 - - STL - 2 1 Lucia Micale
00311016 - - - - - (Italy) - - - - - STL - 1 1 Lucia Micale
00311020 - - - F - Italy - - - - - STL - 1 1 Lucia Micale
00311022 - - - F - Italy - - - - - STL - 1 1 Lucia Micale
00320154 - - - F - - - - 0 - - ? Pierre-Robin sequence (HP:0000201); Cleft palate (HP:0000175); Recurrent fractures (HP:0002757); Anteverted nares (HP:0000463); Long philtrum (HP:0000343); Retrognathia (HP:0000278); Bulbous nose (HP:0000414) 1 1 IMGAG
00324654 173550 - - M ? Germany - - 0 - - STL-2 high myopia; hearing loss 1 1 Andreas Laner
00328374 690510 PubMed: Zhou 2018 - - - China - - 0 - - retinal disease - 1 1 LOVD
00328375 690896 PubMed: Zhou 2018 - - - China - - 0 - - retinal disease - 1 1 LOVD
00328376 680925 PubMed: Zhou 2018 - - - China - - 0 - - retinal disease - 1 1 LOVD
00328377 690777 PubMed: Zhou 2018 - - - China - - 0 - - retinal disease - 1 1 LOVD
00328378 691016 PubMed: Zhou 2018 - - - China - - 0 - - retinal disease - 1 1 LOVD
00328379 690034M PubMed: Zhou 2018 - - - China - - 0 - - retinal disease - 1 1 LOVD
00328380 690715 PubMed: Zhou 2018 - - - China - - 0 - - retinal disease - 1 1 LOVD
00331362 14DG1059, 14DG1060 PubMed: Maddirevula 2018 family, 2 affected (2M) M yes - Arab - 0 - - skeletal dysplasia Global Developmental delay, Short stature, Hearing impairment, Abnormal facial shape, HNo 1 2 LOVD
00331363 15DG0723 PubMed: Maddirevula 2018 isolated case M yes - Arab - 0 - - skeletal dysplasia Flat face 1 1 LOVD
Legend   How to query   « First ‹ Prev     1 2     Next › Last »