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: 7468
Gene Symbol: NSD2
NSD2 		nuclear receptor binding SET domain protein 2 0.507 0.769 1.00
CUI: C0025958
Disease: Microcephaly
Microcephaly 		disease 0.410 strong 1.000 0 0 2018 2018
Entrez Id: 7468
Gene Symbol: NSD2
NSD2 		nuclear receptor binding SET domain protein 2 0.507 0.769 1.00
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.400 strong 1.000 0 0 2018 2018
Entrez Id: 7468
Gene Symbol: NSD2
NSD2 		nuclear receptor binding SET domain protein 2 0.507 0.769 1.00
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		phenotype 0.400 strong 1.000 0 0 2018 2018
Entrez Id: 7468
Gene Symbol: NSD2
NSD2 		nuclear receptor binding SET domain protein 2 0.507 0.769 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.130 None 1.000 0 0 2005 2019
Entrez Id: 7468
Gene Symbol: NSD2
NSD2 		nuclear receptor binding SET domain protein 2 0.507 0.769 1.00
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		disease 0.110 None 1.000 0 0 2018 2018
Entrez Id: 7468
Gene Symbol: NSD2
NSD2 		nuclear receptor binding SET domain protein 2 0.507 0.769 1.00
CUI: C0013336
Disease: Dwarfism
Dwarfism 		disease 0.110 None 1.000 0 0 2018 2018
Entrez Id: 7468
Gene Symbol: NSD2
NSD2 		nuclear receptor binding SET domain protein 2 0.507 0.769 1.00
CUI: C1836996
Disease: Disproportionate tall stature
Disproportionate tall stature 		phenotype 0.100 None 0 0
Entrez Id: 7468
Gene Symbol: NSD2
NSD2 		nuclear receptor binding SET domain protein 2 0.507 0.769 1.00
CUI: C1855728
Disease: Low posterior hairline
Low posterior hairline 		phenotype 0.100 None 0 0
Entrez Id: 7468
Gene Symbol: NSD2
NSD2 		nuclear receptor binding SET domain protein 2 0.507 0.769 1.00
CUI: C1837108
Disease: Decreased muscle mass
Decreased muscle mass 		phenotype 0.100 None 0 0
Entrez Id: 7468
Gene Symbol: NSD2
NSD2 		nuclear receptor binding SET domain protein 2 0.507 0.769 1.00
CUI: C1839326
Disease: Abnormal form of the vertebral bodies
Abnormal form of the vertebral bodies 		phenotype 0.100 None 0 0
Entrez Id: 7468
Gene Symbol: NSD2
NSD2 		nuclear receptor binding SET domain protein 2 0.507 0.769 1.00
CUI: C1855698
Disease: Aplasia cutis congenita of scalp
Aplasia cutis congenita of scalp 		disease 0.100 None 0 0
Entrez Id: 7468
Gene Symbol: NSD2
NSD2 		nuclear receptor binding SET domain protein 2 0.507 0.769 1.00
CUI: C1839858
Disease: Periventricular cysts
Periventricular cysts 		phenotype 0.100 None 0 0
Entrez Id: 7468
Gene Symbol: NSD2
NSD2 		nuclear receptor binding SET domain protein 2 0.507 0.769 1.00
CUI: C1853237
Disease: Isolated cases
Isolated cases 		phenotype 0.100 None 0 0
Entrez Id: 7468
Gene Symbol: NSD2
NSD2 		nuclear receptor binding SET domain protein 2 0.507 0.769 1.00
CUI: C1853235
Disease: Sclerocornea
Sclerocornea 		disease 0.100 None 0 0
Entrez Id: 7468
Gene Symbol: NSD2
NSD2 		nuclear receptor binding SET domain protein 2 0.507 0.769 1.00
CUI: C1840380
Disease: Persistent cavum septum pellucidum
Persistent cavum septum pellucidum 		phenotype 0.100 None 0 0
Entrez Id: 7468
Gene Symbol: NSD2
NSD2 		nuclear receptor binding SET domain protein 2 0.507 0.769 1.00
CUI: C1844825
Disease: Hyperconvex fingernails
Hyperconvex fingernails 		phenotype 0.100 None 0 0
Entrez Id: 7468
Gene Symbol: NSD2
NSD2 		nuclear receptor binding SET domain protein 2 0.507 0.769 1.00
CUI: C1848977
Disease: Short upper lip
Short upper lip 		phenotype 0.100 None 0 0
Entrez Id: 7468
Gene Symbol: NSD2
NSD2 		nuclear receptor binding SET domain protein 2 0.507 0.769 1.00
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		phenotype 0.100 None 0 0
Entrez Id: 7468
Gene Symbol: NSD2
NSD2 		nuclear receptor binding SET domain protein 2 0.507 0.769 1.00
CUI: C1395852
Disease: Polydactyly preaxial type 1
Polydactyly preaxial type 1 		disease 0.100 None 0 0
Entrez Id: 7468
Gene Symbol: NSD2
NSD2 		nuclear receptor binding SET domain protein 2 0.507 0.769 1.00
CUI: C0349588
Disease: Short stature
Short stature 		phenotype 0.100 None 0 0
Entrez Id: 7468
Gene Symbol: NSD2
NSD2 		nuclear receptor binding SET domain protein 2 0.507 0.769 1.00
CUI: C0395837
Disease: Stenosis of external auditory canal
Stenosis of external auditory canal 		disease 0.100 None 0 0
Entrez Id: 7468
Gene Symbol: NSD2
NSD2 		nuclear receptor binding SET domain protein 2 0.507 0.769 1.00
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		phenotype 0.100 None 0 0
Entrez Id: 7468
Gene Symbol: NSD2
NSD2 		nuclear receptor binding SET domain protein 2 0.507 0.769 1.00
CUI: C0426848
Disease: Sacral dimple
Sacral dimple 		phenotype 0.100 None 0 0
Entrez Id: 7468
Gene Symbol: NSD2
NSD2 		nuclear receptor binding SET domain protein 2 0.507 0.769 1.00
CUI: C0431371
Disease: Absence of septum pellucidum
Absence of septum pellucidum 		disease 0.100 None 0 0
Entrez Id: 7468
Gene Symbol: NSD2
NSD2 		nuclear receptor binding SET domain protein 2 0.507 0.769 1.00
CUI: C0431890
Disease: Hypoplasia of thumb
Hypoplasia of thumb 		disease 0.100 None 0 0