All individuals with variants in gene PIK3CA

331 entries on 4 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2 3 4     Next › Last »

AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Variants     

Panel size     

Owner     
00016593 patient PubMed: Döcker 2015, Journal: Döcker 2015 - M yes Turkey Turkish - 0 - - MCAP, NS features: - megalencephaly - cerebellar tonsillar ectopia - abnormal thick corpus callosum - congenital somatic overgrowth - somatic asymmetry/hemihypertrophy - cutaneous capillary malformations: midline facial naevus flammeus, cutis marmorata - syndactyly - postaxial polydactyly - hypotonia - developmental delay - frontal bossing 1 1 Dennis Döcker
00034562 - - - F - - European, white - 0 - - cancer, breast breast adenocarcinoma 1 1 Phil Chambers
00034563 - - - - - - European, white - 0 - - cancer, ovarian ovary adenocarcinoma 1 1 Phil Chambers
00089433 - PubMed: Limaye 2015 - - - - - - 0 - - malformation, venous, unifocal, sporadic - 1 1 Antonella Mendola
00089434 - PubMed: Limaye 2015 - - - - - - 0 - - malformation, venous, unifocal, sporadic - 1 1 Antonella Mendola
00089443 - PubMed: Limaye 2015 - - - - - - 0 - - malformation, venous, unifocal, sporadic - 1 1 Antonella Mendola
00089445 - PubMed: Soblet 2013 - - - - - - 0 - - malformation, venous, unifocal, sporadic - 1 1 Antonella Mendola
00089451 - PubMed: Limaye 2015 - - - - - - 0 - - malformation, venous, unifocal, sporadic - 1 1 Antonella Mendola
00089452 - PubMed: Limaye 2015 - - - - - - 0 - - malformation, venous, unifocal, sporadic - 1 1 Antonella Mendola
00089453 - PubMed: Soblet 2013 - - - - - - 0 - - malformation, venous, unifocal, sporadic - 1 1 Antonella Mendola
00089466 - PubMed: Limaye 2015 - - - - - - 0 - - malformation, venous, unifocal, sporadic - 1 1 Antonella Mendola
00089467 - PubMed: Limaye 2015 - - - - - - 0 - - malformation, venous, unifocal, sporadic - 1 1 Antonella Mendola
00089475 - PubMed: Limaye 2015 - - - - - - 0 - - malformation, venous, unifocal, sporadic - 1 1 Antonella Mendola
00089478 - PubMed: Limaye 2015 - - - - - - 0 - - malformation, venous, unifocal, sporadic - 1 1 Antonella Mendola
00089481 - PubMed: Soblet 2013 - - - - - - 0 - - malformation, venous, unifocal, sporadic - 1 1 Antonella Mendola
00089484 - PubMed: Limaye 2015 - - - - - - 0 - - malformation, venous, unifocal, sporadic - 1 1 Antonella Mendola
00089485 - PubMed: Limaye 2015 - - - - - - 0 - - malformation, venous, unifocal, sporadic - 1 1 Antonella Mendola
00089487 - PubMed: Limaye 2015 - - - - - - 0 - - malformation, venous, unifocal, sporadic - 1 1 Antonella Mendola
00089493 - PubMed: Soblet 2013 - - - - - - 0 - - malformation, venous, unifocal, sporadic - 1 1 Antonella Mendola
00089494 - PubMed: Limaye 2015 - - - - - - 0 - - malformation, venous, unifocal, sporadic - 1 1 Antonella Mendola
00089499 - PubMed: Limaye 2015 - - - - - - 0 - - malformation, venous, unifocal, sporadic - 1 1 Antonella Mendola
00089504 - PubMed: Limaye 2015 - - - - - - 0 - - malformation, venous, unifocal, sporadic - 1 1 Antonella Mendola
00089506 - PubMed: Limaye 2015 - - - - - - 0 - - malformation, venous, unifocal, sporadic - 1 1 Antonella Mendola
00089513 - PubMed: Limaye 2015 - - - - - - 0 - - malformation, venous, unifocal, sporadic - 1 1 Antonella Mendola
00089518 - PubMed: Limaye 2015 - - - - - - 0 - - malformation, venous, unifocal, sporadic - 1 1 Antonella Mendola
00089524 - PubMed: Limaye 2015 - - - - - - 0 - - malformation, venous, unifocal, sporadic - 1 1 Antonella Mendola
00089525 - PubMed: Limaye 2015 - - - - - - 0 - - malformation, venous, unifocal, sporadic - 1 1 Antonella Mendola
00089526 - PubMed: Limaye 2015 - - - - - - 0 - - malformation, venous, unifocal, sporadic - 1 1 Antonella Mendola
00089528 - PubMed: Limaye 2015 - - - - - - 0 - - malformation, venous, unifocal, sporadic - 1 1 Antonella Mendola
00089536 - PubMed: Limaye 2015 - - - - - - 0 - - malformation, venous, unifocal, sporadic - 1 1 Antonella Mendola
00089539 - PubMed: Limaye 2015 - - - - - - 0 - - malformation, venous, unifocal, sporadic - 1 1 Antonella Mendola
00089543 - PubMed: Limaye 2015 - - - - - - 0 - - malformation, venous, unifocal, sporadic - 1 1 Antonella Mendola
00089546 - PubMed: Limaye 2015 - - - - - - 0 - - malformation, venous, unifocal, sporadic - 1 1 Antonella Mendola
00089548 - PubMed: Limaye 2015 - - - - - - 0 - - malformation, venous, unifocal, sporadic - 1 1 Antonella Mendola
00089549 - PubMed: Limaye 2015 - - - - - - 0 - - malformation, venous, unifocal, sporadic - 1 1 Antonella Mendola
00089552 - PubMed: Limaye 2015 - - - - - - 0 - - malformation, venous, unifocal, sporadic - 1 1 Antonella Mendola
00089553 - PubMed: Limaye 2015 - - - - - - 0 - - malformation, venous, unifocal, sporadic - 1 1 Antonella Mendola
00089566 - PubMed: Limaye 2015 - - - - - - 0 - - malformation, venous, unifocal, sporadic - 1 1 Antonella Mendola
00089588 - PubMed: Limaye 2015 - - - - - - 0 - - malformation, venous, unifocal, sporadic - 1 1 Antonella Mendola
00103961 26593112-P1 PubMed: Di Donato 2016, Journal: Di Donato 2016 2 generation family, 1 affected (1M), unaffected non-carrier parents, older sister reported as normal M no Germany Caucasian - 0 - - ? PIK3CA-Related Overgrowth Spectrum; birth c-section 39w, weight 4540g, length 56cm, OFC 39.5cm; postnatal hypoglycemia (HP:0001943), hypotonia (HP:0001290), mild delay in gross and fine motor skills (HP:0002194, HP:0010862),... 1 1 Lynn Boekhoudt
00296546 - - - F - - - - 0 - - ? Neurodevelopmental delay (HP:0012758); Macrocephaly (HP:0000256); Tall stature (HP:0000098) 1 1 Andreas Laner
00327392 - - - F ? - - - 0 - - cancer, gastric - 1 1 Richarda de Voer
00336085 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 1 BRIDGES consortium
00336086 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 1 BRIDGES consortium
00340836 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 1 BRIDGES consortium
00340837 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 1 BRIDGES consortium
00340838 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 1 BRIDGES consortium
00340839 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 1 BRIDGES consortium
00340840 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 1 BRIDGES consortium
00340841 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 1 BRIDGES consortium
00340842 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 3 BRIDGES consortium
00340843 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 1 BRIDGES consortium
00340844 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 1 BRIDGES consortium
00340845 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 1 BRIDGES consortium
00340846 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 1 BRIDGES consortium
00340847 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 1 BRIDGES consortium
00340848 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 1 BRIDGES consortium
00340849 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 2 BRIDGES consortium
00340850 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 1 BRIDGES consortium
00340851 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 2 BRIDGES consortium
00340852 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 2 BRIDGES consortium
00340853 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 1 BRIDGES consortium
00340854 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 1 BRIDGES consortium
00340855 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 1 BRIDGES consortium
00340856 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 2 BRIDGES consortium
00340857 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 4 BRIDGES consortium
00340858 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 2 BRIDGES consortium
00340859 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 1 BRIDGES consortium
00340860 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 1 BRIDGES consortium
00340861 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 1 BRIDGES consortium
00340862 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 1 BRIDGES consortium
00340863 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 1 BRIDGES consortium
00340864 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 1 BRIDGES consortium
00340865 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 2 BRIDGES consortium
00340866 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 1 BRIDGES consortium
00340867 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 1 BRIDGES consortium
00340868 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 1 BRIDGES consortium
00340869 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 1 BRIDGES consortium
00340870 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 3 BRIDGES consortium
00340871 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 1 BRIDGES consortium
00340872 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 1 BRIDGES consortium
00340873 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 1 BRIDGES consortium
00340874 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 1 BRIDGES consortium
00340875 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 1 BRIDGES consortium
00340876 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 1 BRIDGES consortium
00340877 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 1 BRIDGES consortium
00340878 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 1 BRIDGES consortium
00340879 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 2 BRIDGES consortium
00340880 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 1 BRIDGES consortium
00340881 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 2 BRIDGES consortium
00340882 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 1 BRIDGES consortium
00340883 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 1 BRIDGES consortium
00340884 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 1 BRIDGES consortium
00340885 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 1 BRIDGES consortium
00340886 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 1 BRIDGES consortium
00340887 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 1 BRIDGES consortium
00340888 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 1 BRIDGES consortium
00340889 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 1 BRIDGES consortium
00340890 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 1 BRIDGES consortium
00340891 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 1 BRIDGES consortium
Legend   How to query   « First ‹ Prev     1 2 3 4     Next › Last »