All individuals with variants in gene NEUROD1

16 entries on 1 page. Showing entries 1 - 16.
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00232368 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 1 Yoshito Koyanagi
00232369 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 1 Yoshito Koyanagi
00232370 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 1 Yoshito Koyanagi
00232371 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 1 Yoshito Koyanagi
00232372 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 1 Yoshito Koyanagi
00232373 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1203 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 2 Yoshito Koyanagi
00232374 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 187 Yoshito Koyanagi
00232375 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 5 Yoshito Koyanagi
00233648 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 1007 Yoshito Koyanagi
00292502 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 105 Mohammed Faruq
00304760 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 3 Mohammed Faruq
00386208 RPN-329 PubMed: Rodriguez-Munoz 2020 - ? - Spain - - - - - retinal disease - 1 1 LOVD
00390212 W000249 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - - - - - - - retinal disease - 1 1 LOVD
00409942 III:3 PubMed: Wang 2014 - M - United States Han Chinese - - - - retinal disease best corrected visual acuity right, left eye: 0.6/0.6; anterior segment: not available; fundus: bone-spicule pigmentation in the mid-periphery; optical coherence tomography: increased retinal thickness in the macular region with discontinuous is/os junction; visual field: loss of upper and temporal visual field; electroretinogram: moderately decreased rod and cone responses; body mass index: 20.2; fasting blood glucose, mmol/l: 5.4; hba1c (glycosylated hemoglobin), %: 6.5; no developmental delay; no ataxia; no sensorineural deafness; no seizures 1 1 LOVD
00409943 III:4 PubMed: Wang 2014 - F - United States Han Chinese - - - - retinal disease best corrected visual acuity right, left eye: 0.1/0.15; anterior segment: dense subcapsular cataract; fundus: diffused rpe and choroidal atrophy with bone-spicule pigmentation; optical coherence tomography: no clear image because of cataract; visual field: not available; electroretinogram: nonrecordable; body mass index: 18.4; fasting blood glucose, mmol/l: 5.1; hba1c (glycosylated hemoglobin), %: 6.2; no developmental delay; no ataxia; no sensorineural deafness; no seizures 1 1 LOVD
00409944 ? PubMed: Orsosz 2015 - F - Hungary - - - - - STGD neonatal diabetes; normal blood glucose control using insulin supplementation; slowly-progressive blurry vision, constriction of the visual field, difficulties seeing at night or in dim light, beginning in early childhood. Best corrected visual acuity - slow decrease during the exam period, ranging from 20/25 to 15/25; refractive error: no changes: -7.5D spherical with +3.0D cylindrical correction both eyes; visual field: 18y: perimetry showed concentric constriction of the visual field, sparing the central 30 degrees in both eyes; normal color recognition on pseudoisochromatic charts; anterior segment: regular oblique corneal astigmatism; corneal thickness near normal, with a central corneal thickness of 600 µm; no keratoconus; anterior chamber depth and angle: normal; funduscopy: optically clear media throughout the cornea, lens and vitreous; retinal pigmented epithelium: mottling at the posterior pole and diffuse atrophy in the periphery; no bone spicule, no pigment clumping; optic disc slightly pale but near normal appearance; diameter of retinal vessels normal, central foveal spot enlarged, no diabetic retinopathy; fundus autofluorescence: a dark fovea surrounded by a hyperreflective ring, as seen in other hereditary retinal dystrophies; increased autofluorescence of the choroid, mottling of the retinal pigment epithelium in the posterior pole; optical coherence tomography: reduced retinal thickness; outside the fovea, the neurosensory retina lacked the external limiting membrane, photoreceptorouter segment, and photoreceptor inner segment; progressive loss of cone photoreceptors. electroretinography: response not detectable 1 1 LOVD
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