Source: INFERRED

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 64324
Gene Symbol: NSD1
NSD1 		nuclear receptor binding SET domain protein 1 0.505 0.769 1.00
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		disease 0.700 strong 1.000 0 4 2002 2019
Entrez Id: 64324
Gene Symbol: NSD1
NSD1 		nuclear receptor binding SET domain protein 1 0.505 0.769 1.00
CUI: C4551477
Disease: SOTOS SYNDROME 1
SOTOS SYNDROME 1 		disease 0.610 None 1.000 9 201 2002 2019
Entrez Id: 64324
Gene Symbol: NSD1
NSD1 		nuclear receptor binding SET domain protein 1 0.505 0.769 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.440 None 1.000 0 0 2003 2019
Entrez Id: 64324
Gene Symbol: NSD1
NSD1 		nuclear receptor binding SET domain protein 1 0.505 0.769 1.00
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome 		disease 0.430 strong 1.000 14 52 2003 2017
Entrez Id: 64324
Gene Symbol: NSD1
NSD1 		nuclear receptor binding SET domain protein 1 0.505 0.769 1.00
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		disease 0.410 None 1.000 0 1 2007 2007
Entrez Id: 64324
Gene Symbol: NSD1
NSD1 		nuclear receptor binding SET domain protein 1 0.505 0.769 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.140 None 1.000 0 1 2009 2017
Entrez Id: 64324
Gene Symbol: NSD1
NSD1 		nuclear receptor binding SET domain protein 1 0.505 0.769 1.00
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		disease 0.130 None 1.000 0 0 2005 2013
Entrez Id: 64324
Gene Symbol: NSD1
NSD1 		nuclear receptor binding SET domain protein 1 0.505 0.769 1.00
CUI: C0025958
Disease: Microcephaly
Microcephaly 		disease 0.120 None 1.000 0 0 2006 2017
Entrez Id: 64324
Gene Symbol: NSD1
NSD1 		nuclear receptor binding SET domain protein 1 0.505 0.769 1.00
CUI: C1864903
Disease: Hyperinsulinemic hypoglycemia
Hyperinsulinemic hypoglycemia 		disease 0.120 None 1.000 0 1 2015 2019
Entrez Id: 64324
Gene Symbol: NSD1
NSD1 		nuclear receptor binding SET domain protein 1 0.505 0.769 1.00
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease 0.110 None 1.000 9 2 2002 2013
Entrez Id: 64324
Gene Symbol: NSD1
NSD1 		nuclear receptor binding SET domain protein 1 0.505 0.769 1.00
CUI: C0399526
Disease: Class III malocclusion
Class III malocclusion 		disease 0.110 None 1.000 0 0 2015 2015
Entrez Id: 64324
Gene Symbol: NSD1
NSD1 		nuclear receptor binding SET domain protein 1 0.505 0.769 1.00
CUI: C0013336
Disease: Dwarfism
Dwarfism 		disease 0.110 None 1.000 0 0 2006 2006
Entrez Id: 64324
Gene Symbol: NSD1
NSD1 		nuclear receptor binding SET domain protein 1 0.505 0.769 1.00
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		disease 0.110 None 1.000 0 0 2019 2019
Entrez Id: 64324
Gene Symbol: NSD1
NSD1 		nuclear receptor binding SET domain protein 1 0.505 0.769 1.00
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		phenotype 0.110 None 1.000 0 1 2006 2006
Entrez Id: 64324
Gene Symbol: NSD1
NSD1 		nuclear receptor binding SET domain protein 1 0.505 0.769 1.00
CUI: C0036572
Disease: Seizures
Seizures 		phenotype 0.110 None 1.000 0 1 2014 2014
Entrez Id: 64324
Gene Symbol: NSD1
NSD1 		nuclear receptor binding SET domain protein 1 0.505 0.769 1.00
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		disease 0.110 None 1.000 0 0 2004 2004
Entrez Id: 64324
Gene Symbol: NSD1
NSD1 		nuclear receptor binding SET domain protein 1 0.505 0.769 1.00
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		group 0.100 None 1.000 9 1 2002 2013
Entrez Id: 64324
Gene Symbol: NSD1
NSD1 		nuclear receptor binding SET domain protein 1 0.505 0.769 1.00
CUI: C0005890
Disease: Body Height
Body Height 		phenotype 0.100 None 1.000 3 3 2014 2019
Entrez Id: 64324
Gene Symbol: NSD1
NSD1 		nuclear receptor binding SET domain protein 1 0.505 0.769 1.00
CUI: C2239219
Disease: von Willebrand's factor (lab test)
von Willebrand's factor (lab test) 		phenotype 0.100 None 1.000 1 26 2013 2013
Entrez Id: 64324
Gene Symbol: NSD1
NSD1 		nuclear receptor binding SET domain protein 1 0.505 0.769 1.00
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		phenotype 0.100 None 1.000 1 2 2016 2016
Entrez Id: 64324
Gene Symbol: NSD1
NSD1 		nuclear receptor binding SET domain protein 1 0.505 0.769 1.00
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		phenotype 0.100 None 1.000 1 1 2017 2017
Entrez Id: 64324
Gene Symbol: NSD1
NSD1 		nuclear receptor binding SET domain protein 1 0.505 0.769 1.00
CUI: C1849089
Disease: Broad forehead
Broad forehead 		phenotype 0.100 None 1.000 1 1 2016 2016
Entrez Id: 64324
Gene Symbol: NSD1
NSD1 		nuclear receptor binding SET domain protein 1 0.505 0.769 1.00
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		phenotype 0.100 None 1.000 1 1 2019 2019
Entrez Id: 64324
Gene Symbol: NSD1
NSD1 		nuclear receptor binding SET domain protein 1 0.505 0.769 1.00
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		phenotype 0.100 None 1.000 1 1 2019 2019
Entrez Id: 64324
Gene Symbol: NSD1
NSD1 		nuclear receptor binding SET domain protein 1 0.505 0.769 1.00
CUI: C0241240
Disease: Tall stature
Tall stature 		phenotype 0.100 None 1.000 1 2 2016 2016