All diseases associated with gene NSD1

5 entries on 1 page. Showing entries 1 - 5.
Legend   How to query  

ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated tissues

Disease features
00908 AML leukemia, myeloid, acute (AML) 601626 - 43 28 - -
00231 BWS Beckwith-Wiedemann syndrome (BWS) 130650 AD 51 51 - -
00139 ID intellectual disability (ID) - - 2708 2390 - -
05245 SOTOS Sotos syndrome (SOTOS) - - 161 66 - neurological disorder characterized by overgrowth (prenatal stage through childhood), advanced bone age, unusual face with large skull, acromegalic features and pointed chin, occasional brain anomalies, seizures, mental retardation
04599 SOTOS1 Sotos syndrome, type 1 (SOTOS-1) 117550 DR 136 117 - characteristic facial appearance, learning disability, overgrowth (height and/or head circumference ⩾98th percentile); advanced bone age; cardiac anomalies; cranial magnetic resonance; imaging or CT abnormalities; hyperlaxity/pes planus; maternal pre-eclampsia; neonatal hypotonia; neonatal jaundice; neonatal poor feeding; renal anomalies; scoliosis; seizures
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.