All individuals with variants in gene NOTCH1

29 entries on 1 page. Showing entries 1 - 29.
Legend   How to query  

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Variants     
Panel size     
Owner     
00065134 SIDS069 PubMed: Neubauer 2017 Journal: Neubauer 2017 - M ? Switzerland Europe 00y03m - - - SIDS SIDS 1 1 Cordula Haas
00104041 Vogelaar-780A PubMed: Vogelaar 2017, Journal: Vogelaar 2017 54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer - - - - - - - - cancer, gastric diffuse-type or intestinal-type gastric cancer 1 1 Marjolijn JL Ligtenberg
00294808 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00294809 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00294810 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00294811 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 32 Mohammed Faruq
00294812 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00303028 Pat73 PubMed: Helbig 2016 - - - United States - - - - - seizures Generalized epilepsy, infantile onset; age onset infantile 1 1 Johan den Dunnen
00305238 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00307142 Patient 06 PubMed: Mendonca 2021 - M - Brazil - - - - - RB1 Unilateral 1 1 Vanessa Mendonça
00311172 Case 2 PubMed: Kaiwar 2017 - F ? - - - - - - BBSOAS Caesarian section (HP:0011410); Premature rupture of membranes (HP:0001788); Maternal hypertension (HP:0008071); Hyperemesis gravidarum (HP:0012188); Feeding difficulties in infancy (HP:0008872); Nasogastric tube feeding in infancy (HP:0011470); Heart murmur (HP:0030148); Bicuspid aortic valve (HP:0001647); Aortic aneurysm (HP:0004942); Muscular hypotonia (HP:0001252); Amblyopia (HP:0000646); Anisometropia (HP:0012803); Strabismus (HP:0000486); Neurodevelopmental delay (HP:0012758); Motor delay (HP:0001270); Delayed speech and language development (HP:0000750); Stereotypy (HP:0000733); Hypertelorism (HP:0000316); Synophrys (HP:0000664); Cupped ear (HP:0000378); Macrocephaly (HP:0000256); Broad proximal phalanges of the hand (HP:0009852) 1 1 Benjamin Billiet
00325873 174014 - - F - Germany - - - - - AOS stroke, abnormal cerebral morphology, leukoencephalopathy, vasculitis, abnormality of lysosomal metabolism, inflammatory arteriopathy, recurrent subcortical infarcts, abnormal cerebral artery morphology, abnormality of the cerebral subcortex, abnormal cellular physiology, abnormality of the cerebral vasculature 1 1 Andreas Laner
00398100 Pat38 PubMed: Overwater 2018 - - - Netherlands - - - - - ? see paper; ... 1 1 Johan den Dunnen
00398126 Pat65 PubMed: Overwater 2018 - F - Netherlands - - - - - ? see paper; ... 1 1 Johan den Dunnen
00398179 Pat124 PubMed: Overwater 2018 - - - Netherlands - - - - - ? see paper; ... 1 1 Johan den Dunnen
00398180 Pat125 PubMed: Overwater 2018 - - - Netherlands - - - - - ? see paper; ... 1 1 Johan den Dunnen
00398181 Pat126 PubMed: Overwater 2018 - - - Netherlands - - - - - ? see paper; ... 1 1 Johan den Dunnen
00398182 Pat127 PubMed: Overwater 2018 - - - Netherlands - - - - - ? see paper; ... 1 1 Johan den Dunnen
00398183 Pat128 PubMed: Overwater 2018 - - - Netherlands - - - - - ? see paper; ... 1 1 Johan den Dunnen
00398184 Pat129 PubMed: Overwater 2018 - - - Netherlands - - - - - ? see paper; ... 1 1 Johan den Dunnen
00398185 Pat130 PubMed: Overwater 2018 - - - Netherlands - - - - - ? see paper; ... 1 1 Johan den Dunnen
00398186 Pat131 PubMed: Overwater 2018 - - - Netherlands - - - - - ? see paper; ... 1 1 Johan den Dunnen
00398187 Pat132 PubMed: Overwater 2018 - - - Netherlands - - - - - ? see paper; ... 1 1 Johan den Dunnen
00398332 Fam2PatIII4 PubMed: Schubert 2016 3-generation family, affected father/son M - United States - - - - - LDS see paper; ..., mild TAA 1 2 Johan den Dunnen
00451671 - - - F - - (not applicable) white - - - - ? HP:0001057 1 1 Marketa Wayhelova
00453720 BAV090 PubMed: Mansoorshahi 2024 analysis 215 early-onset complications bicuspid aortic valve-affected families. - - United States - - - - - CHD large root and ascending aneurysm 1 1 Johan den Dunnen
00453725 BAV581 PubMed: Mansoorshahi 2024 analysis 215 early-onset complications bicuspid aortic valve-affected families. - - United States - - - - - CHD aortic valve replacement, ascending aortic replacement 1 1 Johan den Dunnen
00460920 - - - - - Netherlands - - - - - ? - 1 1 Tjakko van Ham
00460945 - - - - - Netherlands - - - - - ? - 1 1 Tjakko van Ham
Legend   How to query  

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.