All individuals with variants in gene TGFBI

290 entries on 3 pages. Showing entries 1 - 100.
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AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Variants     

Panel size     

Owner     
00019123 - PubMed: Zenteno 2006 - - - - Mexico - - - - CDGG1 CDGGI 1 1 Daniel Schorderet
00019124 - PubMed: Ha 2003 - - - - Vietnam (vicinity of Hanoi) - - - - ? GCD atypical (hanoi type of GCD) 1 1 Daniel Schorderet
00019125 - PubMed: Munier 1997 - - - - Japan / Vietnam/ Eastern Europe/ India/ USA/ Canada/ France/ Korea/ Britany/ Bangladesh/ Germany/ Hungary/ Chile - - - - LCD1 LCD1 1 1 Daniel Schorderet
00019126 - PubMed: Edelstein 2010 - - - - Unknown (white male) - - - - CDA CDA 1 1 Daniel Schorderet
00019127 - PubMed: Chang et al .2009 - - - - China - - - - CDTB;CDB2 CDTB 1 1 Daniel Schorderet
00019128 - PubMed: Ma 2010 - - - - China - - - - CDRB;CDB1 CDRB 1 1 Daniel Schorderet
00019129 - PubMed: Stewart 1999b - - - - Asiatic - - - - CDGG1 CDGG1 1 1 Daniel Schorderet
00019130 - PubMed: Munier 1997 - - - - Japan / Europa / white / Korea/ Britany/ Germany/ Spain/ China/ Afro-american - - - - CDA CDA 1 1 Daniel Schorderet
00019131 - PubMed: Mashima 1997, PubMed: Cho 2012 - - - - Japan/ indo-parkistan/ north china/ Iranian - - - - CDA CDA (resseembling SVGD) 1 1 Daniel Schorderet
00019132 - PubMed: Mashima 1998 - - yes - Japan - - - - ? severe form of juvenile CDG 1 1 Daniel Schorderet
00019133 - PubMed: Watanabe et al.2001 - - - - Japan (Tottori) - - - - CDA CDA (type II corneal opacity: reticular) 1 1 Daniel Schorderet
00019134 - PubMed: Yamada et al.2009 - - - - Japan - - - - CDA CDL+CDA 2 1 Daniel Schorderet
00019135 - PubMed: Yam 2012 - - - - China - - - - CDA CDA (with no lattice-type deposition observed) 2 1 Daniel Schorderet
00019136 - PubMed: Dighiero 2000 - - - - France - - - - ? FVGD (=French variant of granular dystrophy) 2 1 Daniel Schorderet
00019137 - PubMed: Okada 1998 - - - - Japan+France+India - - - - CDRB;CDB1 CDRB=SVGD (=superficial variant of granular dystrophy) 1 1 Daniel Schorderet
00019138 - PubMed: Paliwal 2011 - - - - India - - - - CDRB;CDB1 CDRB variant with amyloïdogenic phenotype (lattice like lines) 1 1 Daniel Schorderet
00019139 - PubMed: Kawasaki 2011 - - - - Unknown - - - - ? CDL deep/IV/late onset 1 1 Daniel Schorderet
00019140 - PubMed: Yamamoto et al 1998, PubMed: Ha NT 2000, PubMed: Fujiki 2001 Tsujikawa et al.2006 - - - - Japan - - - - CDL3A CDL3A 1 1 Daniel Schorderet
00019141 - PubMed: Zenteno 2009 - - - - Mexico - - - - ? CD unclassified 1 1 Daniel Schorderet
00019142 - PubMed: Tian 2005 - - - - China - - - - LCD1 CDL 1 1 1 Daniel Schorderet
00019143 - PubMed: Gruenauer-Kloevekorn 2013 - - - - Germany - - - - CDRB;CDB1 CDRB-like 1 1 Daniel Schorderet
00019144 - PubMed: Niel-Butschi 2011 - - - - France - - - - LCD1 CDL 1 with amyloïd and non amyloid aggregates 1 1 Daniel Schorderet
00019145 - PubMed: Niel-Butschi 2011 - - - - France - - - - ? CDL atypique 1 1 Daniel Schorderet
00019146 - PubMed: Boutboul 2006 - - - - France - - - - ? MDCD (=Map dot corneal dystrophy) 1 1 Daniel Schorderet
00019147 - PubMed: Zhong 2010 - - - - China - - - - LCD1 LCD1 2 1 Daniel Schorderet
00019148 - PubMed: Paliwal 2010 - - - - India - - - - CDGG1 CDGG1 1 1 Daniel Schorderet
00019149 - PubMed: Endo 1999, PubMed: Fujiki 2001, PubMed: Hirano 2000 - - - - Japan - - - - LCD1 LCD1 1 1 Daniel Schorderet
00019150 - PubMed: Munier 2001 - - - - Italy - - - - CDL3A, LCD1 LCD1/3A 1 1 Daniel Schorderet
00019151 - PubMed: Zhang 2009 - - - - China - - - - LCD1 LCD1 1 1 Daniel Schorderet
00019152 - PubMed: Fujiki 1998, PubMed: Cho et al 2012, PubMed: Hirano et al 2001, PubMed: Yamamoto et al 2000 - - - - Japan (Kanto district)+ Korean - - - - ? CDL deep/IV/late onset 1 1 Daniel Schorderet
00019153 - PubMed: Funayama 2006 - - - - Unknown - - - - CDL3A CDLIII 1 1 Daniel Schorderet
00019154 - PubMed: Yamada 2005 - - - - Japan - - - - ? CDL 1 1 Daniel Schorderet
00019155 - PubMed: Yu 2006 - - - - China - - - - LCD1 LCD1 1 1 Daniel Schorderet
00019156 - PubMed: Munier 2001 - - - - France, Swizerland, Italy - - - - CDL3A, LCD1 LCD1/3A 1 1 Daniel Schorderet
00019157 - PubMed: chakravarthi 2005 - - - - India - - - - LCD1 LCD1 1 1 Daniel Schorderet
00019158 - PubMed: Munier 2001 - - - - Sardinia (Arbus) - - - - CDL3A, LCD1 LCD1/3A 1 1 Daniel Schorderet
00019159 - PubMed: Rozzo 1998 - - - - Sardinia (Arbus) - - - - CDL3A CDRB reclassified as CDL3A 1 1 Daniel Schorderet
00019160 - PubMed: stix 2005 - - - - Unknown - - - - CDL3A CDL3A 1 1 Daniel Schorderet
00019161 - PubMed: Cho 2012 - - - - Korea - - - - ? CDL variant 1 1 Daniel Schorderet
00019162 - PubMed: Nakagawa Asahina 2004 - - - - Japan - - - - ? CDL deep type IV 1 1 Daniel Schorderet
00019163 - PubMed: Fujiki 2001 - - - - Japan - - - - ? CDL late onset 1 1 Daniel Schorderet
00019164 - PubMed: Dighiero 2000a - - - - France - - - - CDL3A CDL3A 1 1 Daniel Schorderet
00019165 - PubMed: Eifrig 2004 - - - - Germany+Mexico - - - - ? polymorphic corneal amyloïdosis 1 1 Daniel Schorderet
00019166 - PubMed: Yu 2008 - - - - China - - - - CDGG1 CDGG1 atypical 1 1 Daniel Schorderet
00019167 - PubMed: Correa-Gomez 2007 - - - - Mexico - - - - ? CDL stromal atypical 1 1 Daniel Schorderet
00019168 - PubMed: Klintworth 2004 - - - - Afro-american (North california) - - - - LCD1 LCD1 1 1 Daniel Schorderet
00019169 - PubMed: Klintworth 2004 - - - - Afro-american (North california) - - - - LCD1 LCD1 1 1 Daniel Schorderet
00019170 - PubMed: Aldave 2004 - - - - Afro-américain - - - - CDL3A, LCD1 LCD1/3A 1 1 Daniel Schorderet
00019171 - PubMed: Takacs 2007 - - - - Hungary - - - - ? CDL atypical: polymorphic corneal amyloïdosis 1 1 Daniel Schorderet
00019172 - PubMed: Zenteno 2009 - - - - Mexico - - - - CDA CDA 1 1 Daniel Schorderet
00019173 - PubMed: Zenteno 2009 - - - - Mexico - - - - ? GCD atypical 2 1 Daniel Schorderet
00019174 - PubMed: Munier 1997, PubMed: Takacs 2007, PubMed: Piao 2012 - - - - France+ Japan+Hungaria+Chinese - - - - CDRB;CDB1 CDRB 1 1 Daniel Schorderet
00019175 - PubMed: Cho 2012, PubMed: El Ashry et al 2005, PubMed: Takacs 2007 - - - - Korea+British+France+Hungaria+Chinese+japan - - - - CDTB;CDB2 CDTB 1 1 Daniel Schorderet
00019176 - PubMed: Niel-Butschi 2011 - - - - France - - - - CDTB;CDB2 CDTB atypical 2 1 Daniel Schorderet
00019177 - PubMed: Munier 1997, PubMed: El-Ashryr 2005 - - - - Mexico+ India+France+British+chinese+Japan+Turkish+Hungaria - - - - CDGG1 CDGG1 1 1 Daniel Schorderet
00019178 - PubMed: Zenteno 2009 - - - - Mexico - - - - CDRB;CDB1, CDTB;CDB2 CDRB ou TBCD 1 1 Daniel Schorderet
00019179 - PubMed: Garg 2010 - - yes - Unknown - - - - CDRB;CDB1 CDRB (SVCD) 1 1 Daniel Schorderet
00019180 - PubMed: Okada 1998 - - yes - Japan (Amakusa district) - - - - ? CDG severe 1 1 Daniel Schorderet
00019181 - PubMed: Pampukha 2009 - - - - Ukraine - - - - ? late onset CD with deep stromal opacities--> deep CDL? 1 1 Daniel Schorderet
00019182 - PubMed: Paliwal 2010 - - - - India - - - - ? MDCD like (=Map dot corneal dystrophy) 1 1 Daniel Schorderet
00019183 - PubMed: Warren 2003 - - - - USA - - - - LCD1 LCD1 1 1 Daniel Schorderet
00019184 - PubMed: Aldave 2006 - - - - Unknown - - - - LCD1 LCD1 unilateral 1 1 Daniel Schorderet
00019185 - PubMed: Atchaneeyasakul 2006 - - - - Thailand+Unknown - - - - LCD1 LCD1 1 1 Daniel Schorderet
00019186 - PubMed: chakravarthi 2005 - - - - India - - - - ? CDL deep 1 1 Daniel Schorderet
00019187 - PubMed: Niel-Butschi 2011 - - - - Algeria - - - - ? CDL (of late onset) 1 1 Daniel Schorderet
00019188 - PubMed: Yang 2010 - - - - China - - - - ? CDL variant 1 1 Daniel Schorderet
00019189 - PubMed: Aldave 2008 - - - - Spain - - - - ? CDA variant 1 1 Daniel Schorderet
00019190 - PubMed: Lakshminarayanan 2011 - - - - China - - - - LCD1 LCD1 1 1 Daniel Schorderet
00019191 - PubMed: Stewart 1999 - - - - Unknown - - - - CDL3A CDL3A 1 1 Daniel Schorderet
00019192 - PubMed: Munier 2001 - - - - Italy or South America - - - - CDL3A CDL3A 1 1 Daniel Schorderet
00019193 - PubMed: Munier 2001 - - - - Italy or South America - - - - CDL3A CDL3A 1 1 Daniel Schorderet
00019194 - PubMed: Munier 2001 - - - - Unknown - - - - CDL3A, LCD1 LCD1/3A 1 1 Daniel Schorderet
00019195 - PubMed: Afshari 2001 - - - - Unknown - - - - CDRB;CDB1 CDRB 1 1 Daniel Schorderet
00019196 - PubMed: Aldave 2005 - - - - Filipin - - - - ? CDL atypical 1 1 Daniel Schorderet
00019197 - PubMed: Auw-Haedrich 2009 - - - - Germany - - - - ? Salzmann's nodular degeneration 1 1 Daniel Schorderet
00019198 - PubMed: Gruenauer-Kloevekorn 2013 - - - - Germany - - - - ? late onset variant CDL 1 1 Daniel Schorderet
00019199 - PubMed: Afshari 2008 - - - - Afro-American - - - - ? CDL atypical 1 1 Daniel Schorderet
00019200 - PubMed: Chakravarthi 2005 - - - - India - - - - ? CDL atypical 1 1 Daniel Schorderet
00019201 - PubMed: Tian 2007 - - - - China - - - - LCD1 CDL 1[atypical (early onset)] 1 1 Daniel Schorderet
00019202 - PubMed: Munier 2001 - - - - Unknown - - - - CDL3A, LCD1 LCD1/3A intermediate type 1 1 Daniel Schorderet
00019203 - PubMed: Wheeldon 2008 - - - - white - - - - CDRB;CDB1 CDRB atypical (mixt CDRB+CDTB) 1 1 Daniel Schorderet
00019204 - PubMed: Liskova 2008 - - - - Czech - - - - ? early-onset of superficial keratopathy 1 1 Daniel Schorderet
00019205 - PubMed: Zenteno 2009 - - - - Mexico - - - - ? GCD atypical 2 1 Daniel Schorderet
00019206 - PubMed: Munier 2001 - - - - European+Vietnam+Chinese - - - - CDL3A, LCD1 LCD1/3A 1 1 Daniel Schorderet
00019207 - PubMed: Stewart 1999 - - - - - - - - - CDL3A CDL3A 1 1 Daniel Schorderet
00019208 - PubMed: Munier 2001 - - - - South American - - - - CDL3A CDL3A 1 1 Daniel Schorderet
00019209 - PubMed: Schmitt-Bernard 2000b - - - - Unknown - - - - CDL3A, LCD1 LCD1/3A 1 1 Daniel Schorderet
00019210 - PubMed: Munier 2001 - - - - Italy - - - - ? CDL deep 1 1 Daniel Schorderet
00019211 - PubMed: Boutboul 2006 - - - - Northern Ireland - - - - ? MDCD (=Map dot corneal dystrophy) 1 1 Daniel Schorderet
00019212 - - - - - - - - - - - - - 1 1 Daniel Schorderet
00019213 - - - - - - - - - - - - - 1 1 Daniel Schorderet
00019214 - - - - - - - - - - - - - 1 1 Daniel Schorderet
00019215 - - - - - - - - - - - - - 1 1 Daniel Schorderet
00019216 - - - - - - - - - - - - - 1 1 Daniel Schorderet
00019217 - - - - - - - - - - - - - 1 1 Daniel Schorderet
00019218 - - - - - - - - - - - - - 1 1 Daniel Schorderet
00019219 - - - - - - - - - - - - - 1 1 Daniel Schorderet
00019220 - - - - - - - - - - - - - 1 1 Daniel Schorderet
00019221 - - - - - - - - - - - - - 1 1 Daniel Schorderet
00019222 - - - - - - - - - - - - - 1 1 Daniel Schorderet
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