All individuals with variants in gene SAG

108 entries on 2 pages. Showing entries 1 - 100.
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VIP     
Data_av     
Treatment     
Disease     
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Variants     
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Owner     
00100119 61324 PubMed: Li 2017 - M yes Pakistan Pakistani - - - - RD - 1 1 James Hejtmancik
00144249 - PubMed: Eisenberger 2014 - M no Austria - - - - - retinal disease - 1 1 Rob W.J. Collin
00219399 25801283-FamPatIII4 PubMed: Olivé 2015 4-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents/relatives M - Spain - - - - - CMH 20y-ECG hypertrophic cardiomyopathy; 4th decade slowly progressing weakness proximal muscles four limbs, difficulties on stairs and lifting heavy objects; ... 1 3 Johan den Dunnen
00232376 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 156 Yoshito Koyanagi
00232377 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 1 Yoshito Koyanagi
00232378 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 1 Yoshito Koyanagi
00232379 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 1 Yoshito Koyanagi
00232380 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 6 Yoshito Koyanagi
00232381 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 1 Yoshito Koyanagi
00232382 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 486 Yoshito Koyanagi
00232383 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 212 Yoshito Koyanagi
00233649 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 14 Yoshito Koyanagi
00233650 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 6 Yoshito Koyanagi
00233651 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 108 Yoshito Koyanagi
00233652 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 14 Yoshito Koyanagi
00246599 family PubMed: Maw 1998 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M - India - - - - - CSNB see paper; ... 1 2 Johan den Dunnen
00246600 FamAPatII1 PubMed: Nakamura 2004 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Japan - - - - - CSNB see paper; ... 2 1 Johan den Dunnen
00246601 FamBPatII4 PubMed: Nakamura 2004 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Japan - - - - - CSNB see paper; ... 1 1 Johan den Dunnen
00246602 - PubMed: Waheed 2012 5-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M - Pakistan - - - - - CSNB hyperhomocysteinemia, dural sinus thrombosis, thrombocytopenia, systemic lupus erythematosus, see paper; ... 1 1 Johan den Dunnen
00246603 - PubMed: Sergouniotis 2011 - F - United Kingdom (Great Britain) Asia, south - - - - CSNB see paper; ... 1 1 Johan den Dunnen
00246604 patient PubMed: Fuchs 1995 - - - Japan - - - - - CSNB see paper; … 1 1 Johan den Dunnen
00246605 patient PubMed: Fuchs 1995 - - - Japan - - - - - CSNB see paper; … 1 1 Johan den Dunnen
00246606 patient PubMed: Fuchs 1995 - - - Japan - - - - - CSNB see paper; … 1 1 Johan den Dunnen
00246607 patient PubMed: Fuchs 1995 - - - Japan - - - - - CSNB see paper; … 1 1 Johan den Dunnen
00246608 patient PubMed: Fuchs 1995 - - - Japan - - - - - CSNB see paper; … 1 1 Johan den Dunnen
00246656 - PubMed: Huang 2012 2-generation family, 1 affected, unaffected heterozygous carrier parents F no China - - - - - CSNB see paper; ... 5 1 Johan den Dunnen
00246657 - PubMed: Fujinami 2011 2-generation family, 1 affected F - Japan - - - - - CSNB see paper; ... 1 1 Johan den Dunnen
00246658 patient PubMed: Saga 2004 - - - Japan - - - - - CSNB see paper; … 1 1 Johan den Dunnen
00246659 patient PubMed: Saga 2004 - - - Japan - - - - - CSNB see paper; … 1 1 Johan den Dunnen
00246660 patient PubMed: Saga 2004 - - - Japan - - - - - CSNB see paper; … 1 1 Johan den Dunnen
00246661 patient PubMed: Saga 2004 - - - Japan - - - - - CSNB see paper; … 1 1 Johan den Dunnen
00246662 patient PubMed: Saga 2004 - - - Japan - - - - - CSNB see paper; … 1 1 Johan den Dunnen
00246663 patient PubMed: Saga 2004 - - - Japan - - - - - CSNB see paper; … 1 1 Johan den Dunnen
00246664 patient PubMed: Saga 2004 - - - Japan - - - - - CSNB see paper; … 1 1 Johan den Dunnen
00246665 patient PubMed: Saga 2004 - - - Japan - - - - - CSNB see paper; … 1 1 Johan den Dunnen
00246666 patient PubMed: Saga 2004 - - - Japan - - - - - CSNB see paper; … 1 1 Johan den Dunnen
00246667 PatIII1/2/3 PubMed: Yoshii 1998 4-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents/relatives F;M yes Japan - - - - - CSNB see paper; 1 patient with retinitis pigmentosa, 2 with Oguchi’s disease 1 3 Johan den Dunnen
00292642 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 69 Mohammed Faruq
00304799 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 3 Mohammed Faruq
00333361 Pat1 PubMed: Costa 2017 - F - Brazil - - - - - retinal disease see paper; ... 1 1 LOVD
00333364 Pat4 PubMed: Costa 2017 - F - Brazil - - - - - retinal disease see paper; ... 1 1 LOVD
00372657 RP202 PubMed: Xu 2014 patient F - China - - - - - retinal disease see paper; ... 1 1 LOVD
00372690 RP190 PubMed: Xu 2014 - - - China - - - - - retinal disease see paper; ... 1 1 LOVD
00372697 RP341 PubMed: Xu 2014 - - - China - - - - - retinal disease see paper; ... 1 1 LOVD
00372723 RP297 PubMed: Xu 2014 - - - China - - - - - retinal disease see paper; ... 1 1 LOVD
00375432 RP#027 PubMed: Katagiri 2014 family - - Japan - - - - - retinal disease see paper; ... 1 1 LOVD
00376531 - PubMed: Zeitz-2009 - - - - - - - - - retinal disease - 1 1 LOVD
00376532 - PubMed: Zeitz-2009 - - - - - - - - - retinal disease - 1 1 LOVD
00376533 - PubMed: Zeitz-2009 - - - - - - - - - retinal disease - 1 1 LOVD
00376534 - PubMed: Zeitz-2009 - - - - - - - - - retinal disease - 1 1 LOVD
00376791 58 PubMed: Wang 2014 - F - United States - - - - - retinal disease - 1 1 LOVD
00376794 61 PubMed: Wang 2014 - M - United States - - - - - retinal disease - 1 1 LOVD
00377826 - PubMed: Avila Fernandez 2010 - - - - Spanish - - - - retinal disease - 2 1 LOVD
00377841 - PubMed: Avila Fernandez 2010 - - - - Spanish - - - - retinal disease - 1 1 LOVD
00377842 - PubMed: Avila Fernandez 2010 - - - - Spanish - - - - retinal disease - 1 1 LOVD
00379563 - PubMed: O'Sullivan-2012 - - - United Kingdom (Great Britain) - - - - - retinal disease - 1 1 LOVD
00379708 R0021 PubMed: Wan 2018 - ? - China Han Chinese - - - - retinal disease - 1 1 LOVD
00381000 - PubMed: Schorderet-2013 - - - Switzerland Swiss, Algerian or Tunisian - - - - retinal disease - 1 1 LOVD
00381235 - PubMed: Wang-2013 patient carry mutation known cause other retinal diseases. Oguchi disease - no - - - - - - retinal disease - 1 1 Julia Lopez
00381594 - PubMed: Eisenberger-2013 - M ? Germany - - - - - retinal disease - 1 1 LOVD
00381597 - PubMed: Eisenberger-2013 - M yes Pakistan - - - - - retinal disease - 1 1 LOVD
00381612 - PubMed: Eisenberger-2013 - M no Germany - - - - - retinal disease - 1 1 LOVD
00382603 466 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - retinal disease - 1 1 LOVD
00383767 RD18070035_A PubMed: Gao 2019 - ? - China - - - - - retinal disease - 1 1 LOVD
00383938 RP-0736 PubMed: Martin Merida 2019 - ? - Spain - - - - - retinal disease - 1 1 LOVD
00383972 RP-1206 PubMed: Martin Merida 2019 - ? - Spain - - - - - retinal disease - 1 1 LOVD
00384159 RP-2791 PubMed: Martin Merida 2019 - ? - Spain - - - - - retinal disease - 1 1 LOVD
00386167 RPN-268 PubMed: Rodriguez-Munoz 2020 - ? - Spain - - - - - retinal disease - 1 1 LOVD
00386204 RPN-324 PubMed: Rodriguez-Munoz 2020 family fRPN-159, proband F - Spain - - - - - retinal disease - 1 1 LOVD
00386287 RPN-461 PubMed: Rodriguez-Munoz 2020 family fRPN-AP, proband F - Spain - - - - - retinal disease - 1 1 LOVD
00389133 417 PubMed: Weisschuh 2020 Filing key number: 134, congenital stationary night blindness, no patient Ids, consecutive numbers given M - Germany - - - - - retinal disease age at genetic diagnosis mentioned 1 1 LOVD
00389463 747 PubMed: Weisschuh 2020 Filing key number: 289, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - retinal disease age at genetic diagnosis mentioned 1 1 LOVD
00389721 1005 PubMed: Weisschuh 2020 Filing key number: 483, cone dystrophy, no patient Ids, consecutive numbers given M - Germany - - - - - retinal disease age at genetic diagnosis mentioned 1 1 LOVD
00389752 1036 PubMed: Weisschuh 2020 Filing key number: 600, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - retinal disease age at genetic diagnosis mentioned 2 1 LOVD
00389947 1231 PubMed: Weisschuh 2020 Filing key number: 979, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - retinal disease age at genetic diagnosis mentioned 2 1 LOVD
00396626 - PubMed: Numa 2020 - M - Japan Japanese - - - - retinal disease night blindness 1 1 LOVD
00413701 - PubMed: Hayashi 2011 - M - Japan Japanese - - - - retinal disease BCVA: 1.0 (OD)/ 1.5(OS); mild corneal opacity in both eyes; retinal pigment epithelium atrophy along the vascular arcade; golden-yellow discoloration in the mid-periphery 1 1 LOVD
00413702 - PubMed: Sonoyama 2011 - M - Japan Japanese - - - - retinal disease faint golden-yellowish reflex, Mizuo-Nakamura phenomenon, relative intact photopic ERGs 1 1 LOVD
00413703 - PubMed: Kato 2015 - M - Japan Japanese - - - - retinal disease RE: Clearly demarcated dark regions without tapetal-like reflex; demarcation along retinal arteries; expansion/reduction during follow-up 5y(14–19); spherical equivalent: -5.86. LE: Clearly demarcated dark regions without tapetal-like reflex; demarcation along retinal arteries; expansion/reduction during follow-up 5y(14–19); spherical equivalent: -7.13 1 1 LOVD
00413704 - PubMed: Kato 2016 - F - Japan Japanese - - - - retinal disease RE: Clearly demarcated dark regions without tapetal-like reflex; demarcation along retinal arteries; reduction during follow-up 4y(18–22); spherical equivalent: -3.25. LE: Clearly demarcated dark regions without tapetal-like reflex; demarcation along retinal arteries; reduction during follow-up 4y(18–22); spherical equivalent: -2.75 1 1 LOVD
00413705 - PubMed: Kato 2017 - F - Japan Japanese - - - - retinal disease RE: Clearly demarcated dark regions without tapetal-like reflex; expansion during follow-up 8y(10–18); spherical equivalent: +1.25. LE: Clearly demarcated dark regions without tapetal-like reflex; demarcation along retinal arteries; expansion during follow-up 8y(10–18); spherical equivalent: -1.25 1 1 LOVD
00413706 - PubMed: Kato 2018 - F - Japan Japanese - - - - retinal disease LE: Clearly demarcated dark regions without tapetal-like reflex; reduction during follow-up 4y(10–14); spherical equivalent: -4.50 1 1 LOVD
00413707 - PubMed: Kato 2019 - F - Japan Japanese - - - - retinal disease - 1 1 LOVD
00413708 - PubMed: Kato 2020 - F - Japan Japanese - - - - retinal disease RE: Clearly demarcated dark regions without tapetal-like reflex; demarcation along retinal arteries; spherical equivalent: -2.75 1 1 LOVD
00413709 - PubMed: Kato 2021 - F - Japan Japanese - - - - retinal disease RE: Clearly demarcated dark regions without tapetal-like reflex; demarcation along retinal arteries; expansion/reduction during follow-up 4y(75–79); spherical equivalent: +2.50. LE: Clearly demarcated dark regions without tapetal-like reflex; demarcation along retinal arteries; expansion during follow-up 4y(75–79); spherical equivalent: +3.50 1 1 LOVD
00413710 - PubMed: Sullivan 2017 - F - United States Hispanic - - - - retinal disease BCVA: 20/25; 20/60, HVF 108, Rods nondetectable; cones reduced by 1 1 LOVD
00413711 - PubMed: Sullivan 2017 - M - United States Hispanic - - - - retinal disease BCVA: 20/40; 20/40, VF Kinetic 108, Rods nondetectable; cones reduced by , Diabetic 1 1 LOVD
00413712 - PubMed: Sullivan 2017 - M - United States Hispanic - - - - retinal disease BCVA: 20/200; 20/200, VF Kinetic 48, 85% and delayed Rods reduced >95%; cones reduced by >99% 1 1 LOVD
00413713 - PubMed: Sullivan 2017 - F - United States Hispanic - - - - retinal disease BCVA: 20/63; 20/32, HVF 258, Rods nondetectable; cones reduced by 97% and delayed 1 1 LOVD
00413714 - PubMed: Sullivan 2017 - M - United States Hispanic - - - - retinal disease BCVA: 20/40; 20/25, HVF 108, Rods nondetectable; cones reduced by 96% and delayed 1 1 LOVD
00413715 - PubMed: Sullivan 2017 - F - United States Hispanic - - - - retinal disease BCVA: 20/32; 20/32, HVF 258, Rods nondetectable; cones reduced by 78% and delayed 1 1 LOVD
00413716 - PubMed: Sullivan 2017 - M - United States Hispanic - - - - retinal disease BCVA: 20/20; 20/25, VF Kinetic 208 with peripheral islands, Diabetic 1 1 LOVD
00413717 - PubMed: Sullivan 2017 - M - United States Hispanic - - - - retinal disease BCVA: 20/40; 20/40, VF Kinetic 208 with peripheral islands, Rods nondetectable; cones reduced by 93% and delayed, Foveal swelling OU 1 1 LOVD
00413718 - PubMed: Sullivan 2017 - F - United States Hispanic - - - - retinal disease BCVA: 20/16; 20/20, HVF 208, Rods nondetectable; cones reduced by 62% and delayed 1 1 LOVD
00413719 - PubMed: Sullivan 2017 - F - United States Hispanic - - - - retinal disease BCVA: 20/25; 20/25, HVF 208, Rods nondetectable; cones reduced by 96% and delayed, Diabetic 1 1 LOVD
00413720 - PubMed: Sullivan 2017 - M - United States Hispanic - - - - retinal disease BCVA: 20/25; 20/20, Full with midperipheral scotoma, Rods nondetectable; cones reduced by 0.3, Diabetic 1 1 LOVD
00413721 - PubMed: Sullivan 2017 - F - United States Hispanic - - - - retinal disease BCVA: 20/200; 20/80, HVF <108, 1 1 LOVD
00413722 - PubMed: Sullivan 2017 - M - United States Hispanic - - - - retinal disease BCVA: 20/50; 20/30, Full with midperipheral, Rods nondetectable; cones moderately reduced and delayed 1 1 LOVD
00413723 - PubMed: Colombo 2019 - M - Italy - - - - - retinal disease VA: 20/20 with a myopic refractive error of ?3 diopters in both eyes; retina was pale with a greyish green sheen under slit lamp illumination, compatible with the Mizuo-Nakamura phenomenon; hypereflective layers associated with the inner/outer segment junction and a densely packed RPE/Bruch's membrane complex in the parafovea 1 1 LOVD
00413888 family JU#0004 PubMed: Hayashi 2007 Japanese family (JU#0004) ? - Japan Japanese - - - - retinal disease - 1 1 LOVD
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