All individuals with variants in gene CYP4V2

680 entries on 7 pages. Showing entries 1 - 100.
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Remarks     

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Population     

Age at death     

VIP     

Data_av     

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Disease     

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00000041 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000101 - PubMed: Bell 2011 - - - - - - - - - retinal disease diffuse retinal, retinal pigment epithelium, and choroidal atrophy without evidence for choroidal neovascularization 1 1 Global Variome, with Curator vacancy
00001816 - - - - - (United States) - - - - - RP - 2 1 Feng Wang
00001817 - - - - - (United States) - - - - - RP - 2 1 Feng Wang
00001818 - - - - - (United States) - - - - - RP - 2 1 Feng Wang
00001822 - - - - - (United States) - - - - - RP - 2 1 Feng Wang
00081136 - - - ? - - unknown >76y - no none BCD affected with Bietti corneoretina dystrophy 1 1 James Hejtmancik
00081137 - - - M ? - white - - no none BCD affected with Bietti corneoretina dystrophy 1 1 James Hejtmancik
00081138 - - - M ? - white - - no none BCD affected with Bietti corneoretina dystrophy 1 1 James Hejtmancik
00081139 - - - F - - Chinese >39y - - - BCD affected with Bietti corneoretina dystrophy 2 1 James Hejtmancik
00081141 - - - F - - Chinese >38y - - - BCD affected with Bietti corneoretina dystrophy 2 1 James Hejtmancik
00081143 - - - M - - Chinese >47y - - - BCD affected with Bietti corneoretina dystrophy 2 1 James Hejtmancik
00081145 - - - M - - Chinese >35y - - - BCD affected with Bietti corneoretina dystrophy 2 1 James Hejtmancik
00081147 - - - F - - white >35y - - - BCD affected with Bietti corneoretina dystrophy 2 1 James Hejtmancik
00081149 - - - M - - white - - no none BCD affected with Bietti corneoretina dystrophy 1 1 James Hejtmancik
00081150 - - - F - - - >33y - no none BCD affected with Bietti corneoretina dystrophy 1 1 James Hejtmancik
00081151 - - - M - - Korean - - no none BCD affected with Bietti corneoretina dystrophy 2 1 James Hejtmancik
00081153 - - - M - - Palestinian Arabic - - no none BCD affected with Bietti corneoretina dystrophy 1 1 James Hejtmancik
00081154 - - - M - - Chinese >47y - no none BCD affected with Bietti corneoretina dystrophy 2 1 James Hejtmancik
00081156 - - - ? - - white - - no none BCD affected with Bietti corneoretina dystrophy 1 1 James Hejtmancik
00081157 - - - - - - white >64y - no none BCD affected with Bietti corneoretina dystrophy 1 1 James Hejtmancik
00081158 - - - ? - - white - - no none BCD affected with Bietti corneoretina dystrophy 2 1 James Hejtmancik
00081160 - - - - - - - - - no none BCD affected with Bietti corneoretina dystrophy 1 1 James Hejtmancik
00081161 - - - - - - - - - no none BCD affected with Bietti corneoretina dystrophy 2 1 James Hejtmancik
00081163 - - - F - - white - - no none BCD affected with Bietti corneoretina dystrophy 1 1 James Hejtmancik
00081164 - - - - - - white - - no none - - 1 1 James Hejtmancik
00081165 - - - F - - white - - no none BCD affected with Bietti corneoretina dystrophy 1 1 James Hejtmancik
00081166 - - - M - - Chinese >14y - no none BCD affected with Bietti corneoretina dystrophy 1 1 James Hejtmancik
00081167 - - - - - - white >41y - no none BCD affected with Bietti corneoretina dystrophy 1 1 James Hejtmancik
00081168 - - - - - - white >33y - no none BCD affected with Bietti corneoretina dystrophy 1 1 James Hejtmancik
00081169 - - - - - - white >34y - no none BCD affected with Bietti corneoretina dystrophy 1 1 James Hejtmancik
00081170 - - - - - - white - - no none BCD affected with Bietti corneoretina dystrophy 1 1 James Hejtmancik
00081171 - - - M - - Chinese >30y - no none BCD affected with Bietti corneoretina dystrophy 2 1 James Hejtmancik
00081173 - - - F - - white - - no none BCD affected with Bietti corneoretina dystrophy 2 1 James Hejtmancik
00081175 - - - - - - white - - no none BCD affected with Bietti corneoretina dystrophy 1 1 James Hejtmancik
00081176 - - - - - - white - - no none BCD affected with Bietti corneoretina dystrophy 1 1 James Hejtmancik
00081177 - - - - - - white - - no none BCD affected with Bietti corneoretina dystrophy 1 1 James Hejtmancik
00081178 - - - F - - Korean >56y - no none BCD affected with Bietti corneoretina dystrophy 1 1 James Hejtmancik
00081179 - - - F - - Chinese >47y - no none BCD affected with Bietti corneoretina dystrophy 1 1 James Hejtmancik
00081180 - - - - - - Chinese - - no none BCD affected with Bietti corneoretina dystrophy 1 1 James Hejtmancik
00081181 - - - F - - Chinese >35y - no none BCD affected with Bietti corneoretina dystrophy 1 1 James Hejtmancik
00081182 - - - M - - - >43y - no none BCD affected with Bietti corneoretina dystrophy 1 1 James Hejtmancik
00081183 - - - - - - Korean - - no none BCD affected with Bietti corneoretina dystrophy 2 1 James Hejtmancik
00081185 - - - - - - Korean - - no none BCD affected with Bietti corneoretina dystrophy 2 1 James Hejtmancik
00081187 - - - - - - - >61y - no none BCD affected with Bietti corneoretina dystrophy 2 1 James Hejtmancik
00081189 - - - F - - Chinese >39y - no none BCD affected with Bietti corneoretina dystrophy 2 1 James Hejtmancik
00081191 - - - F - - Chinese >51y - no none BCD affected with Bietti corneoretina dystrophy 2 1 James Hejtmancik
00081193 - - - M - - Chinese >33y - no none BCD affected with Bietti corneoretina dystrophy 2 1 James Hejtmancik
00081195 - - - F - - Chinese >43y - no none BCD affected with Bietti corneoretina dystrophy 2 1 James Hejtmancik
00081197 - - - F - - Chinese >39y - no none BCD affected with Bietti corneoretina dystrophy 2 1 James Hejtmancik
00081199 - - - M - - Chinese >48y - no none BCD affected with Bietti corneoretina dystrophy 1 1 James Hejtmancik
00081200 - - - - - - - - - no none BCD affected with Bietti corneoretina dystrophy 1 1 James Hejtmancik
00081201 - - - - - - - - - no none BCD affected with Bietti corneoretina dystrophy 2 1 James Hejtmancik
00081203 - - - M - - Chinese >26y - no none BCD affected with Bietti corneoretina dystrophy 2 1 James Hejtmancik
00081205 - - - M - - Chinese >40y - no none BCD affected with Bietti corneoretina dystrophy 2 1 James Hejtmancik
00081207 - - - M - - Chinese >41y - no none BCD affected with Bietti corneoretina dystrophy 1 1 James Hejtmancik
00081208 - - - - - - - - - no none BCD affected with Bietti corneoretina dystrophy 1 1 James Hejtmancik
00081209 - - - - - - - - - no none BCD affected with Bietti corneoretina dystrophy 1 1 James Hejtmancik
00081210 - - - F - - white >48y - no none BCD affected with Bietti corneoretina dystrophy 1 1 James Hejtmancik
00081211 - - - - - - white - - no none BCD affected with Bietti corneoretina dystrophy 1 1 James Hejtmancik
00081214 - - - F - - white - - no none BCD affected with Bietti corneoretina dystrophy 1 1 James Hejtmancik
00081215 - - - F - - white >56y - no none BCD affected with Bietti corneoretina dystrophy 2 1 James Hejtmancik
00081217 - - - F - - white >54y - no none BCD affected with Bietti corneoretina dystrophy 2 1 James Hejtmancik
00081219 - - - - - - white - - no none BCD affected with Bietti corneoretina dystrophy 1 1 James Hejtmancik
00089069 - PubMed: Li 2004, Journal: Li 2004 3-generation family, 3 affecteds (3F), unaffected heterozygous carrier parents F - - Chinese - - - - BCD lipid inclusions in lymphocytes 2 3 Johan den Dunnen
00089070 - PubMed: Li 2004, Journal: Li 2004 - - - - Japanese - - - - BCD lipid inclusions in lymphocytes 1 1 Johan den Dunnen
00089071 - PubMed: Li 2004, Journal: Li 2004 - - - - Japanese - - - - BCD lipid inclusions in lymphocytes 1 1 Johan den Dunnen
00089072 - PubMed: Li 2004, Journal: Li 2004 - - - - Japanese - - - - BCD lipid inclusions in lymphocytes 1 1 Johan den Dunnen
00089073 - PubMed: Li 2004, Journal: Li 2004 2-generation family, 1 affected (F), unaffected heterozygous carrier parents F yes - Japanese - - - - BCD lipid inclusions in lymphocytes 1 1 Johan den Dunnen
00089074 - PubMed: Li 2004, Journal: Li 2004 - - - - Japanese - - - - BCD lipid inclusions in lymphocytes 1 1 Johan den Dunnen
00089075 - PubMed: Li 2004, Journal: Li 2004 - - - - Japanese - - - - BCD lipid inclusions in lymphocytes 1 1 Johan den Dunnen
00089076 - PubMed: Li 2004, Journal: Li 2004 - - - - Chinese - - - - BCD lipid inclusions in lymphocytes 1 1 Johan den Dunnen
00089077 - PubMed: Li 2004, Journal: Li 2004 - - - - Chinese - - - - BCD lipid inclusions in lymphocytes 1 1 Johan den Dunnen
00089078 - PubMed: Li 2004, Journal: Li 2004 2-generation family, affected sister/brother, unaffected heterozygous carrier parents F;M - - European - - - - BCD lipid inclusions in lymphocytes 1 2 Johan den Dunnen
00089079 - PubMed: Li 2004, Journal: Li 2004 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F - - European - - - - BCD lipid inclusions in lymphocytes 2 2 Johan den Dunnen
00089080 - PubMed: Li 2004, Journal: Li 2004 - - - - Chinese - - - - BCD - 2 1 Johan den Dunnen
00089081 - PubMed: Li 2004, Journal: Li 2004 - - - - Chinese - - - - BCD lipid inclusions in lymphocytes 1 1 Johan den Dunnen
00089082 - PubMed: Li 2004, Journal: Li 2004 - - - - European - - - - BCD lipid inclusions in lymphocytes 1 1 Johan den Dunnen
00089083 - PubMed: Li 2004, Journal: Li 2004 - - - - Chinese - - - - BCD - 1 1 Johan den Dunnen
00089084 - PubMed: Li 2004, Journal: Li 2004 - - - - Chinese - - - - BCD - 2 1 Johan den Dunnen
00089085 - PubMed: Li 2004, Journal: Li 2004 - - - - Japanese - - - - BCD - 2 1 Johan den Dunnen
00089086 - PubMed: Li 2004, Journal: Li 2004 - - - - Chinese - - - - BCD - 1 1 Johan den Dunnen
00089087 - PubMed: Li 2004, Journal: Li 2004 - - - - Japanese - - - - BCD - 1 1 Johan den Dunnen
00089088 - PubMed: Li 2004, Journal: Li 2004 - - - - European - - - - BCD - 2 1 Johan den Dunnen
00089089 - PubMed: Li 2004, Journal: Li 2004 - - - - Chinese - - - - BCD - 1 1 Johan den Dunnen
00089090 - PubMed: Li 2004, Journal: Li 2004 - - - - Chinese - - - - BCD - 2 1 Johan den Dunnen
00089091 - PubMed: Li 2004, Journal: Li 2004 - - - - European - - - - BCD - 2 1 Johan den Dunnen
00089092 - PubMed: Li 2004, Journal: Li 2004 - - - - Chinese - - - - Healthy/Control - 1 1 Johan den Dunnen
00155459 MOL0815 PubMed: Sharon 2019 family F no Israel Jewish-Yemenite - - - - retinal disease - 1 1 Dror Sharon
00232608 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1197 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 490 Yoshito Koyanagi
00232609 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 1 Yoshito Koyanagi
00232610 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 1 Yoshito Koyanagi
00232611 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 10 Yoshito Koyanagi
00232612 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 590 Yoshito Koyanagi
00232613 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 1 Yoshito Koyanagi
00232614 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 1 Yoshito Koyanagi
00232615 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 1 Yoshito Koyanagi
00232616 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 1 Yoshito Koyanagi
00232617 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 2 Yoshito Koyanagi
00232618 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 1 Yoshito Koyanagi
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