Source: HPO

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 0 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: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.140 None 1.000 0 0 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: C0036572
Disease: Seizures
Seizures 		phenotype 0.110 None 1.000 0 0 2014 2014
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 0 2006 2006
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: 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: 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: 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: C1839797
Disease: Deep philtrum
Deep philtrum 		phenotype 0.100 None 0 0
Entrez Id: 64324
Gene Symbol: NSD1
NSD1 		nuclear receptor binding SET domain protein 1 0.505 0.769 1.00
CUI: C1837404
Disease: High, narrow palate
High, narrow palate 		phenotype 0.100 None 0 0
Entrez Id: 64324
Gene Symbol: NSD1
NSD1 		nuclear receptor binding SET domain protein 1 0.505 0.769 1.00
CUI: C1840069
Disease: Sandal gap
Sandal gap 		phenotype 0.100 None 0 0
Entrez Id: 64324
Gene Symbol: NSD1
NSD1 		nuclear receptor binding SET domain protein 1 0.505 0.769 1.00
CUI: C1837279
Disease: Hypoplastic toenails
Hypoplastic toenails 		phenotype 0.100 None 0 0
Entrez Id: 64324
Gene Symbol: NSD1
NSD1 		nuclear receptor binding SET domain protein 1 0.505 0.769 1.00
CUI: C1840380
Disease: Persistent cavum septum pellucidum
Persistent cavum septum pellucidum 		phenotype 0.100 None 0 0
Entrez Id: 64324
Gene Symbol: NSD1
NSD1 		nuclear receptor binding SET domain protein 1 0.505 0.769 1.00
CUI: C1837260
Disease: Prominent forehead
Prominent forehead 		phenotype 0.100 None 0 0
Entrez Id: 64324
Gene Symbol: NSD1
NSD1 		nuclear receptor binding SET domain protein 1 0.505 0.769 1.00
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		phenotype 0.100 None 0 0
Entrez Id: 64324
Gene Symbol: NSD1
NSD1 		nuclear receptor binding SET domain protein 1 0.505 0.769 1.00
CUI: C0848558
Disease: Hypospadias
Hypospadias 		disease 0.100 None 0 0
Entrez Id: 64324
Gene Symbol: NSD1
NSD1 		nuclear receptor binding SET domain protein 1 0.505 0.769 1.00
CUI: C0581342
Disease: Redundant skin
Redundant skin 		phenotype 0.100 None 0 0
Entrez Id: 64324
Gene Symbol: NSD1
NSD1 		nuclear receptor binding SET domain protein 1 0.505 0.769 1.00
CUI: C0454641
Disease: Expressive language delay
Expressive language delay 		phenotype 0.100 None 0 0
Entrez Id: 64324
Gene Symbol: NSD1
NSD1 		nuclear receptor binding SET domain protein 1 0.505 0.769 1.00
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		phenotype 0.100 None 0 0
Entrez Id: 64324
Gene Symbol: NSD1
NSD1 		nuclear receptor binding SET domain protein 1 0.505 0.769 1.00
CUI: C0544755
Disease: Genu varum
Genu varum 		phenotype 0.100 None 0 0
Entrez Id: 64324
Gene Symbol: NSD1
NSD1 		nuclear receptor binding SET domain protein 1 0.505 0.769 1.00
CUI: C0544886
Disease: Somatic mutation
Somatic mutation 		phenotype 0.100 None 0 0
Entrez Id: 64324
Gene Symbol: NSD1
NSD1 		nuclear receptor binding SET domain protein 1 0.505 0.769 1.00
CUI: C0545053
Disease: Advanced bone age
Advanced bone age 		phenotype 0.100 None 0 0