All individuals with variants in gene TULP1

406 entries on 5 pages. Showing entries 1 - 100.
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VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Variants     
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Owner     
00001812 - - - - - (United States) - - - - - RP - 2 1 Feng Wang
00014444 - - - - - Netherlands - - - ? - FAP1 ? 1 1 Carli Tops
00014468 - Finland, Helsinki, Department of Medical Genetics, University of Helsinki - - - Finland - - - no (pedigree) - FAP1 no additional phenotype data available 1 1 Stefan Aretz
00087824 - PubMed: Hagstrom 1998 2 generation family 1 affected, 5 carrier F no United States - - - - - RPar - 2 1 Raheel Qamar
00087825 - PubMed: Banerjee 1998 - M no United States - - - - - RPar - 2 1 Raheel Qamar
00087826 - PubMed: Hanein 2004 - - - Italy - - - - - LCA15 Congenital nystagmus,no or verypoor ocular pursuit,digito-ocular signs of franceschetti attesting of profoundly impaired vision,no recordable erg since birth or the first months of life 2 1 Raheel Qamar
00087827 - PubMed: Banerjee 1998 ? ? ? Dominican Republic - - - - - - - 1 1 Raheel Qamar
00087828 - PubMed: Gu 1998 - ? - Germany - - - - - RPar - 1 1 Raheel Qamar
00087829 - PubMed: Hagstrom 1998 2 generation family 1 affected, 5 carrier M no - - - - - - retinal disease - 1 1 Raheel Qamar
00087830 - PubMed: Paloma 2000 - F ? Spain Spainish - - - - RPar - 2 1 Raheel Qamar
00087831 - PubMed: Gu 1998 - ? - Germany - - - - - retinal disease - 1 1 Raheel Qamar
00087832 - PubMed: Paloma 2000 - ? ? - - - - - - retinal disease - 1 1 Raheel Qamar
00087833 - PubMed: den Hollander 2007 ? F yes Afghanistan - - - - - LCA15 Mild temporal pallor annular ring : yellow perifoveal, 1 1 Raheel Qamar
00087834 - PubMed: den Hollander 2007 - M yes Afghanistan - - - - - LCA15 Mild temporal pallor annular ring : yellow perifoveal, 1 1 Raheel Qamar
00087835 - PubMed: Hagstrom 1998 ? ? ? United States - - - - - - - 1 1 Raheel Qamar
00087836 - PubMed: Hagstrom 1998 2 generation family 1 affected, 2 carrier M no United States - - - - - retinal disease - 1 1 Raheel Qamar
00087837 - PubMed: Banerjee 1998 ? ? ? - - - - - - - - 1 1 Raheel Qamar
00087838 - PubMed: Hagstrom 1998 2 generation family 1 affected, 4 carrier M no United States - - - - - retinal disease - 2 1 Raheel Qamar
00087839 - PubMed: Hagstrom 1998 2 generation family 1 affected 6 carrier F no United States - - - - - retinal disease - 1 1 Raheel Qamar
00087840 - PubMed: Hagstrom 1998 2 generation family 1 affected 5 carrier M no United States - - - - - retinal disease - 2 1 Raheel Qamar
00087841 - PubMed: Banerjee 1998 ? ? ? Dominican Republic - - - - - - - 2 1 Raheel Qamar
00087842 - PubMed: Banerjee 1998, ? - - Dominican Republic - - - - - LCA15 - 1 1 Raheel Qamar
00087843 - PubMed: Mataftsi  2007 7 generation family.this SNP identified in only one person F yes Algeria - - - - - - - 1 1 Raheel Qamar
00087844 - PubMed: Li 2009 5 Generation family, 3 affected ? yes Saudi Arabia - - - - - LCA Poor vision, nystagmus, hyperopic, vessel attenuation; diminished foveal and ilm macularreflexivities 1 1 Raheel Qamar
00087845 - PubMed: Li 2009 5 Generation family, 3 affected ? yes Saudi Arabia - - - - - LCA Atrophic macula with fovea spared; bone spicules in the mid periphery; unstablenystagmus; peripheral cortical cuneiform spokes. 1 1 Raheel Qamar
00087846 - PubMed: Li 2009 5 Generation family, 3 affected ? yes Saudi Arabia - - - - - LCA Irregular coarse nystagmus; hyperopic astigmatism; nystagmus; vertically oval discs 1 1 Raheel Qamar
00087847 - PubMed: Li 2009 6 Generation family, 16 affected ? yes Saudi Arabia - - - - - LCA “rp” with macula spared 1 1 Raheel Qamar
00087848 - PubMed: Li 2009 6 Generation family, 16 affected ? yes Saudi Arabia - - - - - LCA Disc elevation,macula spared,minimal vascular attenuation,sandy peripheral depigmentation,vision cf,horizontal nystagmus,small posterior subcapsular cataracts,vitreous syneresis and cells,midperipheral bone spicules 1 1 Raheel Qamar
00087849 - PubMed: Li 2009 6 Generation family, 16 affected ? yes Saudi Arabia - - - - - LCA Disc elevation,macula spared,minimal vascular attenuation,sandy peripheral depigmentation,vision cf,horizontal nystagmus,small posterior subcapsular cataracts,vitreous syneresis and cells,midperipheral bone spicules 1 1 Raheel Qamar
00087850 - PubMed: Li 2009 6 Generation family, 16 affected ? yes Saudi Arabia - - - - - LCA Nystagmus,minimal disc pallor,full discs,sandy granular rpe periphery 1 1 Raheel Qamar
00087851 - PubMed: Li 2009 6 Generation family, 16 affected ? yes Saudi Arabia - - - - - LCA Pale discs,3/4 vessel attenuation,full “pseudo-papilledema” discs,fine bone spicules 1 1 Raheel Qamar
00087852 - PubMed: Li 2009 6 Generation family, 16 affected ? yes Saudi Arabia - - - - - LCA Small round pale discs; bone spicules in mid-periphery; vessel attenuation. 1 1 Raheel Qamar
00087853 - PubMed: Li 2009 6 Generation family, 16 affected ? yes Saudi Arabia - - - - - LCA 2 pallor of discs; 2 vessel attenuation; fine bone spicule in mid periphery; pvd ou;erg nonrecordable. 1 1 Raheel Qamar
00087854 - PubMed: Li 2009 6 Generation family, 16 affected ? yes Saudi Arabia - - - - - LCA 5 d hyperopic; vertically oval discs; 2 pink pallor; slight elevation; 2 vesselattenuation; fine mid-peripheral bone spicules beyond the arcade 1 1 Raheel Qamar
00087855 - PubMed: Li 2009 6 Generation family, 16 affected ? yes Saudi Arabia - - - - - LCA Nystagmus; poor vision to cf ou; disc hyperemia and temporal pallor; vessels mildlyattenuated; bone spicules in midperiphery; ct normal; ekg normal; erg nonrecordable 1 1 Raheel Qamar
00087856 - PubMed: Li 2009 6 Generation family, 16 affected ? yes Saudi Arabia - - - - - LCA Jerk nystagmus; vision “follows objects poorly”; pseudopapilledema; ct normal; ekgnormal; erg nonrecordable; attenuated vessels; slightly pale discs 1 1 Raheel Qamar
00087857 - PubMed: Li 2009 6 Generation family, 16 affected ? yes Saudi Arabia - - - - - LCA Fundus shows “rp“ 1 1 Raheel Qamar
00087858 - PubMed: Li 2009 6 Generation family, 16 affected ? yes Saudi Arabia - - - - - LCA No features of deafness, neurologic impairment or mental deficiency; normal ekg; ct scannormal; erg nonrecordable; fundus shows pigmentary retinopathy with attenuated vessels 1 1 Raheel Qamar
00087859 - PubMed: Li 2009 6 Generation family, 2 affected ? yes Saudi Arabia - - - - - LCA Erg nonrecordable; compound hyperopic astigmatism; diffuse optic nerve pallorattenuated vessels and rpe granularity; pendular nystagmus 1 1 Raheel Qamar
00087860 - PubMed: Li 2009 6 Generation family, 2 affected ? yes Saudi Arabia - - - - - LCA Irregular horizontal nystagmus; mild horizontal head titubation; onset at age 6 months;hyperopia 4.00d; erg nonrecordable; 2 disc pallor; mild vascular attenuation;atrophic foveal light reflexes; minimal rpe degeneration 1 1 Raheel Qamar
00087861 - PubMed: Li 2009 6 Generation family, 14 affected ? yes Saudi Arabia - - - - - LCA High hyperopia ou: 7.00 2.25 90;fundus periphery shows confluent outer retinal peripheral whitening and patchy dots at the posterior edge distantly similar to fundus albipunctatus 1 1 Raheel Qamar
00087862 - PubMed: Li 2009 6 Generation family, 14 affected ? yes Saudi Arabia - - - - - LCA Rotatory nystagmus; vertically oval discs; rosy pale discs; vascular attenuation; diffusepigmentary degeneration 1 1 Raheel Qamar
00087863 - PubMed: Li 2009 6 Generation family, 14 affected ? yes Saudi Arabia - - - - - LCA Microrotatory nystagmus; discs, vessels, and pigment same as sister 1 1 Raheel Qamar
00087864 - PubMed: Li 2009 6 Generation family, 14 affected ? yes Saudi Arabia - - - - - LCA Microrotatory nystagmus; rosy orange discs; 2–3 vessel attenuation; diffuse pigmentarychanges without bone spicules 1 1 Raheel Qamar
00087865 - PubMed: Li 2009 6 Generation family, 14 affected ? yes Saudi Arabia - - - - - LCA Rotatory nystagmus; high hyperopia 5.50 1.50 90 ou; full elevated discs; 1–2vessel attenuation; periphery brown grainy rpe; erg nonrecordable 1 1 Raheel Qamar
00087866 - PubMed: Li 2009 6 Generation family, 14 affected ? yes Saudi Arabia - - - - - LCA 8.25 hyperopic; minimal end-gaze nystagmus; macula normal; anterior to equatorconfluent outer retinal whitening 1 1 Raheel Qamar
00087867 - PubMed: Li 2009 6 Generation family, 14 affected ? yes Saudi Arabia - - - - - LCA Rotatory nystagmus; rosy flat vertically oval discs; 1 vessel attenuation; fine midperipheralbone spicules 1 1 Raheel Qamar
00087868 - PubMed: Li 2009 6 Generation family, 14 affected ? yes Saudi Arabia - - - - - LCA Rotatory nystagmus; flat rosy discs; 1 vessel attenuation; absent fovea and umbo; greybrownperipheral rpe. 1 1 Raheel Qamar
00087869 - PubMed: Li 2009 6 Generation family, 14 affected ? yes Saudi Arabia - - - - - LCA Rotatory nystagmus; 1 elevated discs; 1 vessel attenuation; dirty brown peripheralgranular rpe. 1 1 Raheel Qamar
00087870 - PubMed: Li 2009 6 Generation family, 14 affected ? yes Saudi Arabia - - - - - LCA Rotatory nystagmus; minimal hyperopia; rosy pale discs; typical rp in periphery. 1 1 Raheel Qamar
00087871 - PubMed: Li 2009 6 Generation family, 14 affected ? yes Saudi Arabia - - - - - LCA 30 diopter xt; rotatory nystagmus; 4.00 d hyperopia; vascular attenuation, modest bonespicule midperiphery ou; 6.00 0,74 180 ou 1 1 Raheel Qamar
00087872 - PubMed: Li 2009 6 Generation family, 14 affected ? yes Saudi Arabia - - - - - LCA Rotatory nystagmus; flat discs; vascular attenuation; midperipheral bone spicules. 1 1 Raheel Qamar
00087873 - PubMed: Li 2009 6 Generation family, 14 affected ? yes Saudi Arabia - - - - - LCA Rotatory nystagmus; 4-prism diopter xt; sluggish pupils; 2/4 vascular attenuation; ratebone spicules in periphery; 3.50 sphere hyperopia 1 1 Raheel Qamar
00087874 - PubMed: Li 2009 4 Generation family, 2 affected ? yes Saudi Arabia - - - - - LCA Microrotatory nystagmus; 3.50 sph hyperopia; pvd and vitreous condensation ou;vascular attenuation; equatorial and peripheral dense pigmentary rp-like degeneration ou. 1 1 Raheel Qamar
00087875 - PubMed: Li 2009 4 Generation family, 2 affected ? yes Saudi Arabia - - - - - LCA Microrotatory nystagmus; full elevated discs with grey corona; far peripheral retina shows confluent grey-white belt 1 1 Raheel Qamar
00087876 - PubMed: Hebrard 2011 3 generation family, 2 affected, 8 carriers, 1 normal M no France - - - - - RPar Bilateral macular atrophy,pigment deposits in retinal periphery,attenuated retinal vessels and pale optic disks 2 1 Raheel Qamar
00087877 - PubMed: Hebrard 2011 3 generation family, 2 affected, 8 carriers, 1 normal F no France - - - - - RPar Disorganized aspect, many bone spicule-shaped yellowish pigment deposits in mid periphery , visible retinal vessels and waxy optic disks 2 1 Raheel Qamar
00087878 - PubMed: den Hollander 2007 ? M yes Turkey - - - - - LCA15 Mild attenuation, rpe mottling, withround, atrophiclesions of the rpe with bone spicules 1 1 Raheel Qamar
00087879 - PubMed: Kannabiran 2012 4 generation family 2 affected, 3 carrier M yes India South india - - - - RPar Rpe degeneration, arterial narrowing, pigmentary deposits and disc pallor, cellophane reflexes 1 1 Raheel Qamar
00087880 - PubMed: Kannabiran 2012 4 generation family 3 affected, 2 carrier M yes India South india - - - - RPar Rpe degeneration, arterial narrowing, pigmentary deposits and disc pallor, cellophane reflexes 1 1 Raheel Qamar
00087881 - PubMed: Hanein 2004 - - ? - - - - - - LCA15 Congenital nystagmus, no or verypoor ocular pursuit, digito-ocular signs of franceschetti attesting of profoundly impaired vision, and no recordableerg since birth or the first months of life. 1 1 Raheel Qamar
00087882 - PubMed: Iqbal 2011 4 generation family, 4 affected, 4 carriers F yes Pakistan Southern Punjab - - - - RPar Attenuated retinal vessels, pigment deposit 1 1 Raheel Qamar
00087883 - PubMed: Iqbal 2011 4 generation family, 4 affected, 4 carriers F yes Pakistan Southern Punjab - - - - RPar Attenuated retinal vessels, pigment deposit 1 1 Raheel Qamar
00087884 - PubMed: Iqbal 2011 4 generation family, 4 affected, 4 carriers F yes Pakistan Southern Punjab - - - - RPar Attenuated retinal vessels, pigment deposit 1 1 Raheel Qamar
00087885 - PubMed: Iqbal 2011 4 generation family, 4 affected, 4 carriers F yes Pakistan Southern Punjab - - - - RPar Attenuated retinal vessels, pigment deposit 1 1 Raheel Qamar
00087886 - PubMed: McKibbin 2010 ? ? ? Pakistan Northern Punjab - - - - LCA Bone spicules absent 1 1 Raheel Qamar
00087887 - PubMed: Ajmal 2012 6 generation family, 16 carriers, 27 affected M - Pakistan NothernPunjab,Nothern Pakistan - - - - RPar Attenuated retinal vessels, pigment deposit,waxy pale appearnace of optic disc,yellow perifoveal annnular ring 1 1 Raheel Qamar
00087888 - PubMed: Iqbal  2011  4 generation family, 4 affected, 3 carriers F yes Pakistan Southern Punjab - - - - RPar Attenuated retinal vessels, pigment deposit,waxy pale appearnace of optic disc,yellow perifoveal annnular ring,bone spicules absent 1 1 Raheel Qamar
00087889 - PubMed: Iqbal 2011  4 generation family, 4 affected, 3 carriers F yes Pakistan Southern Punjab - - - - RPar Attenuated retinal vessels, pigment deposit,waxy pale appearnace of optic disc,yellow perifoveal annnular ring,bone spicules absent 1 1 Raheel Qamar
00087890 - PubMed: Iqbal  2011  4 generation family, 4 affected, 3 carriers F yes Pakistan Southern Punjab - - - - RPar Attenuated retinal vessels, pigment deposit,waxy pale appearnace of optic disc,yellow perifoveal annnular ring,bone spicules absent 1 1 Raheel Qamar
00087891 - PubMed: Iqbal  2011  4 generation family, 4 affected, 3 carriers F yes Pakistan Southern Punjab - - - - RPar Attenuated retinal vessels, pigment deposit,waxy pale appearnace of optic disc,yellow perifoveal annnular ring,bone spicules absent 1 1 Raheel Qamar
00087892 - PubMed: Kondo  2004 2 generation family 2 affected, 3 carrier F no Japan - - - - - RPar Attenuated retinal vessels, minimal pigmented retinopathy with temporal disc pallor and annuli of yellow deposits on the macula, bulles eye appearance of macula, myopia 1 1 Raheel Qamar
00087893 - PubMed: Kondo  2004 2 generation family 2 affected, 3 carrier M no Japan - - - - - RPar Attenuated retinal vessels, minimal pigmented retinopathy with temporal disc pallor and annuli of yellow deposits on the macula, bulles eye appearance of macula, myopia 1 1 Raheel Qamar
00087894 - PubMed: Gu 1998 - ? - Germany - - - - - retinal disease - 1 1 Raheel Qamar
00087895 - PubMed: Hanein 2004 - - ? - - - - - - LCA15 Congenital nystagmus, no or verypoor ocular pursuit, digito-ocular signs of franceschetti attesting of profoundly impaired vision, and no recordableerg since birth or the first months of life. 1 1 Raheel Qamar
00087896 - PubMed: Singh 2009 2 Families M yes India - - - - - RPar Macular degeneration,pigment migration, bone–corpuscular pigmentation, vitreous opacities and vitreous pigments,diffuse disc pallor 1 2 Raheel Qamar
00087897 - PubMed: Gu 1998 - - ? - - - - - - ? - 1 1 Raheel Qamar
00087898 - PubMed: Gu 1998 - - ? - - - - - - ? - 1 1 Raheel Qamar
00087899 - PubMed: Hagstrom 1998 2 generation family 2 affected M no - - - - - - RPar - 2 1 Raheel Qamar
00087900 - PubMed: Hagstrom 1998 2 generation family 2 affected M no - - - - - - RPar - 2 1 Raheel Qamar
00087901 - PubMed: Hagstrom 1998 ? ? ? United States - - - - - - - 1 1 Raheel Qamar
00087902 - PubMed: Hagstrom 1998 ? ? ? United States - - - - - - - 1 1 Raheel Qamar
00087903 - PubMed: Gu 1998 - ? - Germany - - - - - retinal disease - 1 1 Raheel Qamar
00087904 - PubMed: den Hollander 2007 ? M yes Mexico - - - - - LCA15 Arteriolar attenuation, nyctalopia, photoaversion,head bobbing, and side and central visual difficulties 1 1 Raheel Qamar
00087905 - PubMed: den Hollander 2007 2 generation family, 5 affected indiviuals F no Suriname - - - - - RPar Nustagmus,low visual acuity,nyclatopia, retinal dystrophy 2 1 Raheel Qamar
00087906 - PubMed: den Hollander 2007 2 generation family, 5 affected indiviuals F no Suriname - - - - - RPar Nustagmus,low visual acuity,nyclatopia, retinal dystrophy 2 1 Raheel Qamar
00087907 - PubMed: den Hollander 2007 2 generation family, 5 affected indiviuals F no Suriname - - - - - RPar Nustagmus,low visual acuity,nyclatopia, retinal dystrophy 2 1 Raheel Qamar
00087908 - PubMed: den Hollander 2007 2 generation family, 5 affected indiviuals F no Suriname - - - - - RPar Nustagmus,low visual acuity,nyclatopia, retinal dystrophy 2 1 Raheel Qamar
00087909 - PubMed: den Hollander 2007 2 generation family, 5 affected indiviuals M no Suriname - - - - - RPar Nustagmus,low visual acuity,nyclatopia, retinal dystrophy 2 1 Raheel Qamar
00087910 - PubMed: Ajmal 2012 6 generation family, 5 carriers, 6 affected M yes Pakistan Nothern Punjab - - - - RPar Incomplete ring formation, bone spicules absent 1 1 Raheel Qamar
00087911 - PubMed: Iqbal 2011 4 generation family, 5 affected, 3 carriers M yes Pakistan Punjab - - - - RPar Artery attenuation, pigment deposit, and pale optic disc 1 1 Raheel Qamar
00087912 - PubMed: Iqbal 2011 4 generation family, 5 affected, 3 carriers M yes Pakistan Punjab - - - - RPar Artery attenuation, pigment deposit, and pale optic disc 1 1 Raheel Qamar
00087913 - PubMed: Iqbal 2011 4 generation family, 5 affected, 3 carriers F yes Pakistan Punjab - - - - RPar Artery attenuation, pigment deposit, and pale optic disc 1 1 Raheel Qamar
00087914 - PubMed: Iqbal 2011 4 generation family, 5 affected, 3 carriers F yes Pakistan Punjab - - - - RPar Artery attenuation, pigment deposit, and pale optic disc 1 1 Raheel Qamar
00087915 - PubMed: Iqbal 2011 4 generation family, 5 affected, 3 carriers F yes Pakistan Punjab - - - - RPar Artery attenuation, pigment deposit, and pale optic disc 1 1 Raheel Qamar
00087916 - PubMed: Iqbal 2011 5 generation family, 5 affected, 5 carriers; M yes Pakistan Punjab - - - - RPar Artery attenuation, pigment deposit, and pale optic disc 1 1 Raheel Qamar
00087917 - PubMed: Iqbal 2011 5 generation family, 5 affected, 5 carriers M yes Pakistan Punjab - - - - RPar Artery attenuation, pigment deposit, and pale optic disc 1 1 Raheel Qamar
00087918 - PubMed: Iqbal 2011 5 generation family, 5 affected, 5 carriers F yes Pakistan Punjab - - - - RPar Artery attenuation, pigment deposit, and pale optic disc 1 1 Raheel Qamar
00087919 - PubMed: Iqbal 2011 5 generation family, 5 affected, 5 carriers F yes Pakistan Punjab - - - - RPar Artery attenuation, pigment deposit, and pale optic disc 1 1 Raheel Qamar
00087920 - PubMed: Iqbal 2011 5 generation family, 5 affected, 5 carriers F yes Pakistan Punjab - - - - RPar Artery attenuation, pigment deposit, and pale optic disc 1 1 Raheel Qamar
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