All individuals with variants in gene GPR143

109 entries on 2 pages. Showing entries 1 - 100.
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00000208 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml) 1 1 Yu Sun
00000209 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml) 1 1 Yu Sun
00080700 - - - M - Germany - - - - - OA1 no cutaneous involvement 1 1 Gemeinschaftspraxis für Humangenetik Dresden
00207882 28771251-Pat3 PubMed: Lionel 2018 - M - Canada - - - - - ? Ocular albinism 1 1 Johan den Dunnen
00208846 - - - M - Germany - - - - - - HP:0000666 (Horizontal nystagmus) 1 1 Andreas Laner
00295662 - - - M - - - - - - - ? Ocular albinism (HP:0001107); Optic nerve hypoplasia (HP:0000609); Nystagmus (HP:0000639) 2 1 Andreas Laner
00327940 B240071 PubMed: Carss 2017 - M - United Kingdom (Great Britain) - - - - - ? - 1 1 LOVD
00328057 G001440 PubMed: Carss 2017 - F - United Kingdom (Great Britain) Europe - - - - ? - 1 1 LOVD
00332395 Pat16 PubMed: Rim 2017 - M - Korea - - - - - retinal disease horizontal pendular nystagmus; fundus no foveal reflex; no oculodigital sign 1 1 LOVD
00332396 Pat17 PubMed: Rim 2017 - M - Korea - - - - - retinal disease horizontal jerk nystagmus; fundus grossly normal; no oculodigital sign 1 1 LOVD
00332397 Pat18 PubMed: Rim 2017 - M - Korea - - - - - retinal disease horizontal jerk nystagmus; fundus no foveal reflex; no oculodigital sign 1 1 LOVD
00332398 Pat19 PubMed: Rim 2017 - M - Korea - - - - - retinal disease horizontal pendular nystagmus; fundus no foveal reflex; no oculodigital sign 1 1 LOVD
00333787 995 PubMed: Stone 2017 1 affected M - (United States) - - - - - retinal disease clinical category IIIF1 1 1 LOVD
00378009 IR_SH_0001 - - M - Korea Asian - - - - albinism HP:0032122 HP:0000613 HP:0000639 HP:0001417 HP:0001107 HP:0007750 1 1 Jinu Han
00378018 IR_SH_0008 - - M - Korea, South (Republic) - - - - - albinism HP:0030515, HP:0001129, HP:0000639, HP:0001417, HP:0001107, HP:0007750 1 1 Jinu Han
00379646 IR_GH_0028 - - M - Korea, South (Republic) - - - - - albinism HP:0030515, HP:0001129, HP:0000639, HP:0001417, HP:0001107, HP:0007750 1 1 Jinu Han
00379803 IR_GH_0166 - - M - Korea, South (Republic) - - - - - albinism HP:0032122, HP:0000613, HP:0000639, HP:0001107, HP:0007750 2 1 Jinu Han
00379805 IR_GH_0169 - - M - Korea, South (Republic) - - - - - albinism HP:0030515, HP:0000662, HP:0001123, HP:0000639, HP:0001361, HP:0007750, HP:0007894 1 1 Jinu Han
00379806 IR_GH_0171 - - M - Korea, South (Republic) - - - - - albinism HP:0030515, HP:0001123, HP:0000639, HP:0007750, HP:0007894 1 1 Jinu Han
00382938 1757721 - - M - Korea, South (Republic) - - - - - albinism HP:0000639, HP:0007894, HP:0007750 1 1 Jinu Han
00382939 3180718 - - M - Korea, South (Republic) - - - - - albinism HP:0000639, HP:0007894, HP:0007750 1 1 Jinu Han
00382940 3991627 - - M - Korea, South (Republic) - - - - - albinism HP:0000639, HP:0007894, HP:0007750 2 1 Jinu Han
00382941 5222651 - - M - Korea, South (Republic) - - - - - albinism HP:0000639, HP:0007894, HP:0007750 1 1 Jinu Han
00382942 5386855 - - M - Korea, South (Republic) - - - - - albinism HP:0000639, HP:0007894, HP:0007750 1 1 Jinu Han
00382943 5687876 - - M - Korea, South (Republic) - - - - - albinism HP:0000639, HP:0007894, HP:0007750 1 1 Jinu Han
00382944 7638939 - - M - Korea, South (Republic) - - - - - albinism HP:0000639, HP:0007894, HP:0007750 1 1 Jinu Han
00382945 9026321 - - M - Korea, South (Republic) - - - - - albinism HP:0000639, HP:0007894, HP:0007750 1 1 Jinu Han
00382946 9267344 - - M - Korea, South (Republic) - - - - - albinism HP:0000639, HP:0007894, HP:0007750 1 1 Jinu Han
00382947 8017593 - - M - Korea, South (Republic) - - - - - albinism HP:0000639, HP:0007894, HP:0007750 1 1 Jinu Han
00382948 10206699 - - M - Korea, South (Republic) - - - - - albinism HP:0000639, HP:0007894, HP:0007750 1 1 Jinu Han
00382949 9295490 - - M - Korea, South (Republic) - - - - - albinism HP:0000639, HP:0007894, HP:0007750 1 1 Jinu Han
00382953 5615681 - - M - Korea, South (Republic) - - - - - albinism HP:0000639, HP:0007894, HP:0007750 1 1 Jinu Han
00382955 7465552 - - M - Korea, South (Republic) - - - - - albinism HP:0000639, HP:0007894, HP:0007750 1 1 Jinu Han
00384252 13169 PubMed: Wang 2019 - M - China - - - - - OA1 - 1 1 LOVD
00384267 13302 PubMed: Wang 2019 - M - China - - - - - OA1 - 1 1 LOVD
00384298 13518 PubMed: Wang 2019 - M - China - - - - - OA1 - 1 1 LOVD
00384398 14216 PubMed: Wang 2019 - M - China - - - - - OA1 - 1 1 LOVD
00384415 14395 PubMed: Wang 2019 - M - China - - - - - OA1 - 1 1 LOVD
00384464 14724 PubMed: Wang 2019 - M - China - - - - - NYS6 - 1 1 LOVD
00385523 17013894 PubMed: Lenassi 2020 retrospective analysis M - (United Kingdom (Great Britain)) - - - - - retinal disease - 1 1 LOVD
00390267 G001440 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - (United Kingdom (Great Britain)) - - - - - retinal disease - 1 1 LOVD
00395575 RP-1018 PubMed: Perea-Romero 2021 - - - Spain - - - - - retinal disease astigmatism, early onset rod-cone dystrophy, hypermetropia, strabismus, global developmental delay, tip-toe gait, talipes equinovarus, anteverted nares, broad nasal tip, depressed nasal bridge, hypertelorism, long philtrum, low anterior hairline, narrow palate, retrognathia, thin vermilion border 1 1 LOVD
00400134 GPR143-P1 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - albinism - 1 1 Johan den Dunnen
00400135 GPR143-P2 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - albinism - 1 1 Johan den Dunnen
00400136 GPR143-P3 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - albinism - 1 1 Johan den Dunnen
00400137 GPR143-P4 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - albinism - 1 1 Johan den Dunnen
00400138 GPR143-P5 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - albinism - 1 1 Johan den Dunnen
00400139 GPR143-P6 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - albinism - 1 1 Johan den Dunnen
00400140 GPR143-P7 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - albinism - 1 1 Johan den Dunnen
00400141 GPR143-P8 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - albinism - 1 1 Johan den Dunnen
00400142 GPR143-P9 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - albinism - 1 1 Johan den Dunnen
00400143 GPR143-P10 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - albinism - 1 1 Johan den Dunnen
00400144 GPR143-P11 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - albinism - 1 1 Johan den Dunnen
00400145 GPR143-P12 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - albinism - 1 1 Johan den Dunnen
00400146 GPR143-P13 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - albinism - 1 1 Johan den Dunnen
00400147 GPR143-P14 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - albinism - 1 1 Johan den Dunnen
00400148 GPR143-P15 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - albinism - 1 1 Johan den Dunnen
00400149 GPR143-P16 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - albinism - 1 1 Johan den Dunnen
00400150 GPR143-P17 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - albinism - 1 1 Johan den Dunnen
00400151 GPR143-P18 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - albinism - 1 1 Johan den Dunnen
00400152 GPR143-P19/TYRP1-P8 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - albinism see paper; ... 1 1 Johan den Dunnen
00400153 GPR143-P20 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - albinism - 1 1 Johan den Dunnen
00400154 GPR143-P21 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - albinism - 1 1 Johan den Dunnen
00400155 GPR143-P22 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - albinism - 1 1 Johan den Dunnen
00400156 GPR143-P23 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - albinism - 1 1 Johan den Dunnen
00400157 GPR143-P24 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - albinism - 1 1 Johan den Dunnen
00400158 GPR143-P25 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - albinism - 1 1 Johan den Dunnen
00400159 GPR143-P26 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - albinism - 1 1 Johan den Dunnen
00400160 GPR143-P27 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - albinism - 1 1 Johan den Dunnen
00400161 GPR143-P28 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - albinism - 1 1 Johan den Dunnen
00400162 GPR143-P29 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - albinism - 1 1 Johan den Dunnen
00400163 GPR143-P30 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - albinism - 1 1 Johan den Dunnen
00400164 GPR143-P31 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - albinism - 1 1 Johan den Dunnen
00400165 GPR143-P32 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - albinism - 1 1 Johan den Dunnen
00400166 GPR143-P33 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - albinism - 1 1 Johan den Dunnen
00400167 GPR143-P34 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - albinism - 1 1 Johan den Dunnen
00400168 GPR143-P35 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - albinism - 1 1 Johan den Dunnen
00400169 GPR143-P36 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - albinism - 1 1 Johan den Dunnen
00400170 GPR143-P37 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - albinism - 1 1 Johan den Dunnen
00400171 GPR143-P38 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - albinism - 1 1 Johan den Dunnen
00400172 GPR143-P39 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - albinism - 1 1 Johan den Dunnen
00400173 GPR143-P40 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - albinism - 1 1 Johan den Dunnen
00400174 GPR143-P41 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - albinism - 1 1 Johan den Dunnen
00400175 GPR143-P42 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - albinism - 1 1 Johan den Dunnen
00400176 GPR143-P43 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - albinism - 1 1 Johan den Dunnen
00400177 GPR143-P44 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - albinism - 1 1 Johan den Dunnen
00400178 GPR143-P45 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - albinism - 1 1 Johan den Dunnen
00400179 GPR143-P46 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - albinism - 1 1 Johan den Dunnen
00400180 GPR143-P47 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - albinism - 1 1 Johan den Dunnen
00400181 GPR143-P48 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - albinism - 1 1 Johan den Dunnen
00400182 GPR143-P49 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - albinism - 1 1 Johan den Dunnen
00400183 GPR143-P50 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - albinism - 1 1 Johan den Dunnen
00434219 Fam52PatI PubMed: Jackson 2020 - M - - Caribbean;black - - - - ? ocular albinism; congenital nystagmus; exotropia; astigmatism 1 1 Johan den Dunnen
00434259 Fam14259 PubMed: Jackson 2020 - - - United Kingdom (Great Britain) white - - - - ? - 1 1 Johan den Dunnen
00434260 Fam17466 PubMed: Jackson 2020 - - - India Asia - - - - ? - 1 1 Johan den Dunnen
00434261 Fam18142 PubMed: Jackson 2020 - - - India Asia - - - - ? - 1 1 Johan den Dunnen
00434262 Fam18524 PubMed: Jackson 2020 - - - United Kingdom (Great Britain) white - - - - ? - 1 1 Johan den Dunnen
00434263 Fam20738 PubMed: Jackson 2020 - - - United Kingdom (Great Britain) white - - - - ? - 1 1 Johan den Dunnen
00434264 Fam24336 PubMed: Jackson 2020 - - - United Kingdom (Great Britain) white - - - - ? - 1 1 Johan den Dunnen
00434265 Fam25692 PubMed: Jackson 2020 - - - - Africa;black - - - - ? - 1 1 Johan den Dunnen
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