All individuals with variants in gene GPR98

346 entries on 4 pages. Showing entries 1 - 100.
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Gender     

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Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Variants     

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Owner     
00000079 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00001825 - - - - - (United States) - - 0 - - RP - 2 1 Feng Wang
00003008 - - - - - - - - - - - ? progressive hearing loss 2 1 Marcel Nelen
00016319 - - - M ? Italy - - 0 - - EPD - 1 1 Lab Zuffardi
00016322 - - - M no Italy - - 0 - - EE diagnosis: epileptic encephalopathy and pervasive developmental disorder 1 1 Lab Zuffardi
00016327 - - - M yes ? (unknown) - - 0 - - EE epileptic encephalopathy with severe cognitive impairment 1 1 Lab Zuffardi
00059146 - PubMed: Sommen 2016, Journal: Sommen 2016 - - - - - - 0 - - DFNB;ARNSHL - 2 1 Manou Sommen
00059147 - PubMed: Sommen 2016, Journal: Sommen 2016 - - - - - - 0 - - DFNB;ARNSHL - 2 1 Manou Sommen
00059148 - PubMed: Sommen 2016, Journal: Sommen 2016 - - - - - - 0 - - DFNB;ARNSHL - 2 1 Manou Sommen
00143915 - PubMed: Katagiri 2014 index patient F no Japan Japanese - 0 - - retinal disease - 1 1 Rob W.J. Collin
00155376 - Sharon, submitted - M yes Israel Russia;Jewish - 0 - - USH2A - 1 2 Dror Sharon
00166402 - PubMed: Weston 2004 Proband F - - - - 0 - - USH-2 - 1 1 David Baux
00166403 - PubMed: Weston 2004 Relative F - - - - 0 - - USH-2 - 1 1 David Baux
00166404 - PubMed: Weston 2004 Relative F - - - - 0 - - USH-2 - 1 1 David Baux
00166405 - PubMed: Weston 2004 Relative F - - - - 0 - - USH-2 - 1 1 David Baux
00166406 - PubMed: Weston 2004 Proband F - - - - 0 - - USH-2 - 1 1 David Baux
00166407 - PubMed: Weston 2004 Relative F - - - - 0 - - USH-2 - 1 1 David Baux
00166408 - PubMed: Weston 2004 Relative F - - - - 0 - - USH-2 - 1 1 David Baux
00166409 - PubMed: Weston 2004 Proband F - - - - 0 - - USH-2 - 1 1 David Baux
00166410 - PubMed: Weston 2004 Proband F - - - - 0 - - USH-2 - 2 1 David Baux
00166411 - PubMed: Weston 2004 Relative F - - - - 0 - - USH-2 - 2 1 David Baux
00166412 - PubMed: Weston 2004 Relative F - - - - 0 - - USH-2 - 2 1 David Baux
00166413 - PubMed: Weston 2004 Relative F - - - - 0 - - USH-2 - 2 1 David Baux
00166414 - PubMed: Weston 2004 Proband F - - - - 0 - - USH-2 - 2 1 David Baux
00166415 - PubMed: Hilgert 2009 Proband M - Iran - - 0 - - USH-2 - 2 1 David Baux
00166416 - PubMed: Hilgert 2009 Relative M - Iran - - 0 - - USH-2 - 2 1 David Baux
00166417 - PubMed: Hilgert 2009 Relative F - Iran - - 0 - - USH-2 - 2 1 David Baux
00166418 - PubMed: Hilgert 2009 Relative F - Iran - - 0 - - USH-2 - 2 1 David Baux
00166419 - PubMed: Hilgert 2009 Relative F - Iran - - 0 - - USH-2 - 2 1 David Baux
00166420 - PubMed: Ebermann 2009 Proband M - Canada - - 0 - - USH-2 - 2 1 David Baux
00166421 - PubMed: Ebermann 2009 Proband F - Germany - - 0 - - USH-2 - 2 1 David Baux
00166422 - PubMed: Ebermann 2009 Relative M - Germany - - 0 - - USH-2 - 2 1 David Baux
00166423 - PubMed: Hmani-Aifa 2009 Proband - severe RP - the patient also carries the c.2419T>A variant (homozygous) in the PDE6B gene. F - Tunisia - - 0 - - USH-2 - 2 1 David Baux
00166424 - PubMed: Hmani-Aifa 2009 Relative - No mutation in PDE6B. Typical USH2 RP. M - Tunisia - - 0 - - USH-2 - 2 1 David Baux
00166425 - PubMed: Hmani-Aifa 2009 Relative - the patient also carries the c.2419T>A (homozygous) variant in the PDE6B gene. M - Tunisia - - 0 - - RPar - 1 1 David Baux
00166426 - PubMed: Nakayama 2002 Proband - The patient suffer from febrile seizure. F - Japan - - 0 - - Healthy/Control - 1 1 David Baux
00166468 - PubMed: Ebermann 2010 Proband - carries c.2194_2203del - p.Cys732Leufs* in PDZD7 - heterozygous, 0/405 controls M - Germany - - 0 - - USH-2 - 1 1 Anne-Françoise Roux
00166495 - PubMed: Malm 2010 Proband - - Sweden - - 0 - - USH-2 - 1 1 Anne-Françoise Roux
00166496 - PubMed: Malm 2010 Relative - - Sweden - - 0 - - USH-2 - 1 1 Anne-Françoise Roux
00166497 - PubMed: Malm 2010 Relative - - Sweden - - 0 - - USH-2 - 1 1 Anne-Françoise Roux
00166519 - PubMed: Bonnet 2011 Proband F - - - - 0 - - USH-1 - 1 1 Anne-Françoise Roux
00166520 - PubMed: Bonnet 2011 Proband M - - - - 0 - - USH-1 - 1 1 Anne-Françoise Roux
00166528 - PubMed: Bonnet 2011 Proband - - - - - 0 - - USH-2 - 2 1 Anne-Françoise Roux
00166529 - PubMed: Bonnet 2011 Proband M - - - - 0 - - USH-2 - 2 1 Anne-Françoise Roux
00166530 - PubMed: Bonnet 2011 Proband - - - - - 0 - - USH-2 - 2 1 Anne-Françoise Roux
00166531 - PubMed: Bonnet 2011 Proband - - - - - 0 - - USH-2 - 1 1 Anne-Françoise Roux
00166533 - PubMed: Bonnet 2011 Proband - - - - - 0 - - USH-3 - 1 1 Anne-Françoise Roux
00166534 - PubMed: Bonnet 2011 Proband - - - - - 0 - - USH-3 - 1 1 Anne-Françoise Roux
00166590 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - USH-2 - 1 1 Maria Bitner-Glindzicz
00166591 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - USH-2 - 1 1 Maria Bitner-Glindzicz
00166592 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - USH-2 - 1 1 Maria Bitner-Glindzicz
00166593 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - USH-2 - 3 1 Maria Bitner-Glindzicz
00166596 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - USH-2 - 2 1 Maria Bitner-Glindzicz
00166598 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - USH-2 - 1 1 Maria Bitner-Glindzicz
00166601 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - USH-2 - 1 1 Maria Bitner-Glindzicz
00166602 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - USH-3 - 1 1 Maria Bitner-Glindzicz
00166604 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - USH-2 - 1 1 Maria Bitner-Glindzicz
00166605 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - USH-2 - 1 1 Maria Bitner-Glindzicz
00166606 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - USH-2 - 1 1 Maria Bitner-Glindzicz
00166607 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - USH-2 - 1 1 Maria Bitner-Glindzicz
00166608 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - USH-1 - 1 1 Maria Bitner-Glindzicz
00166610 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - USH-2 - 1 1 Maria Bitner-Glindzicz
00166611 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - USH-1 - 1 1 Maria Bitner-Glindzicz
00166612 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - USH-3 - 1 1 Maria Bitner-Glindzicz
00166616 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - USH-1 - 3 1 Maria Bitner-Glindzicz
00166618 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - USH-1 - 2 1 Maria Bitner-Glindzicz
00166621 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - USH-2 - 3 1 Maria Bitner-Glindzicz
00166624 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - USH - 1 1 Maria Bitner-Glindzicz
00166625 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - USH-1 - 1 1 Maria Bitner-Glindzicz
00166627 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - USH-1 - 1 1 Maria Bitner-Glindzicz
00166628 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - USH-1 - 3 1 Maria Bitner-Glindzicz
00166630 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - USH-2 - 2 1 Maria Bitner-Glindzicz
00166633 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - USH-2 - 2 1 Maria Bitner-Glindzicz
00166636 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - USH-1 - 3 1 Maria Bitner-Glindzicz
00166637 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - USH-2 - 5 1 Maria Bitner-Glindzicz
00166638 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - USH-2 - 1 1 Maria Bitner-Glindzicz
00166639 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - USH-2 - 1 1 Maria Bitner-Glindzicz
00166640 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - USH-1 - 10 1 Maria Bitner-Glindzicz
00166641 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - USH-2 - 2 1 Maria Bitner-Glindzicz
00166643 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - USH-2 - 2 1 Maria Bitner-Glindzicz
00166644 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - USH-2 - 1 1 Maria Bitner-Glindzicz
00166645 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - USH-2 - 5 1 Maria Bitner-Glindzicz
00166647 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - USH-1 - 1 1 Maria Bitner-Glindzicz
00166651 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - USH-2 - 1 1 Maria Bitner-Glindzicz
00166652 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - USH-2 - 1 1 Maria Bitner-Glindzicz
00166654 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - USH-2 - 4 1 Maria Bitner-Glindzicz
00166657 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - USH-2 - 1 1 Maria Bitner-Glindzicz
00166659 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - USH-2 - 1 1 Maria Bitner-Glindzicz
00166660 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - USH-2 - 1 1 Maria Bitner-Glindzicz
00166662 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - USH-1 - 1 1 Maria Bitner-Glindzicz
00166663 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - USH-1 - 1 1 Maria Bitner-Glindzicz
00166664 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - USH-2 - 2 1 Maria Bitner-Glindzicz
00166665 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - USH-2 - 4 1 Maria Bitner-Glindzicz
00166666 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - USH-2 - 1 1 Maria Bitner-Glindzicz
00166667 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - USH-1 - 1 1 Maria Bitner-Glindzicz
00166669 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - USH-2 - 1 1 Maria Bitner-Glindzicz
00166670 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - USH-2 - 2 1 Maria Bitner-Glindzicz
00166671 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - USH-2 - 1 1 Maria Bitner-Glindzicz
00166672 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - USH-2 - 1 1 Maria Bitner-Glindzicz
00166673 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - USH-1 - 1 1 Maria Bitner-Glindzicz
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