Source: ALL

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: 56270
Gene Symbol: WDR45B
WDR45B 		WD repeat domain 45B 0.760 0.269 0.16
CUI: C4693816
Disease: NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA AND BRAIN ABNORMALITIES WITH OR WITHOUT SEIZURES
NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA AND BRAIN ABNORMALITIES WITH OR WITHOUT SEIZURES 		disease 0.400 None 1.000 1 1 2018 2018
Entrez Id: 56270
Gene Symbol: WDR45B
WDR45B 		WD repeat domain 45B 0.760 0.269 0.16
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.310 None 1.000 2 0 2011 2018
Entrez Id: 56270
Gene Symbol: WDR45B
WDR45B 		WD repeat domain 45B 0.760 0.269 0.16
CUI: C0917816
Disease: Mental deficiency
Mental deficiency 		disease 0.300 None 1.000 1 0 2011 2011
Entrez Id: 56270
Gene Symbol: WDR45B
WDR45B 		WD repeat domain 45B 0.760 0.269 0.16
CUI: C0020796
Disease: Profound Mental Retardation
Profound Mental Retardation 		disease 0.300 None 1.000 1 0 2011 2011
Entrez Id: 56270
Gene Symbol: WDR45B
WDR45B 		WD repeat domain 45B 0.760 0.269 0.16
CUI: C0025363
Disease: Mental Retardation, Psychosocial
Mental Retardation, Psychosocial 		phenotype 0.300 None 1.000 1 0 2011 2011
Entrez Id: 56270
Gene Symbol: WDR45B
WDR45B 		WD repeat domain 45B 0.760 0.269 0.16
CUI: C3665347
Disease: Visual Impairment
Visual Impairment 		phenotype 0.100 None 0 0
Entrez Id: 56270
Gene Symbol: WDR45B
WDR45B 		WD repeat domain 45B 0.760 0.269 0.16
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		phenotype 0.100 None 0 0
Entrez Id: 56270
Gene Symbol: WDR45B
WDR45B 		WD repeat domain 45B 0.760 0.269 0.16
CUI: C3161330
Disease: Profound intellectual disabilities
Profound intellectual disabilities 		disease 0.100 None 0 0
Entrez Id: 56270
Gene Symbol: WDR45B
WDR45B 		WD repeat domain 45B 0.760 0.269 0.16
CUI: C1855330
Disease: Cerebral hypoplasia
Cerebral hypoplasia 		phenotype 0.100 None 0 0
Entrez Id: 56270
Gene Symbol: WDR45B
WDR45B 		WD repeat domain 45B 0.760 0.269 0.16
CUI: C1854882
Disease: Absent speech
Absent speech 		phenotype 0.100 None 0 0
Entrez Id: 56270
Gene Symbol: WDR45B
WDR45B 		WD repeat domain 45B 0.760 0.269 0.16
CUI: C1853743
Disease: Muscular hypotonia of the trunk
Muscular hypotonia of the trunk 		phenotype 0.100 None 0 0
Entrez Id: 56270
Gene Symbol: WDR45B
WDR45B 		WD repeat domain 45B 0.760 0.269 0.16
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		phenotype 0.100 None 0 0
Entrez Id: 56270
Gene Symbol: WDR45B
WDR45B 		WD repeat domain 45B 0.760 0.269 0.16
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		disease 0.100 None 0 0
Entrez Id: 56270
Gene Symbol: WDR45B
WDR45B 		WD repeat domain 45B 0.760 0.269 0.16
CUI: C0600033
Disease: Acquired Kyphoscoliosis
Acquired Kyphoscoliosis 		disease 0.100 None 0 0
Entrez Id: 56270
Gene Symbol: WDR45B
WDR45B 		WD repeat domain 45B 0.760 0.269 0.16
CUI: C0575158
Disease: Kyphoscoliosis deformity of spine
Kyphoscoliosis deformity of spine 		disease 0.100 None 0 0
Entrez Id: 56270
Gene Symbol: WDR45B
WDR45B 		WD repeat domain 45B 0.760 0.269 0.16
CUI: C0345392
Disease: Congenital kyphoscoliosis
Congenital kyphoscoliosis 		disease 0.100 None 0 0
Entrez Id: 56270
Gene Symbol: WDR45B
WDR45B 		WD repeat domain 45B 0.760 0.269 0.16
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		disease 0.100 None 0 0
Entrez Id: 56270
Gene Symbol: WDR45B
WDR45B 		WD repeat domain 45B 0.760 0.269 0.16
CUI: C0333068
Disease: Flexion contracture
Flexion contracture 		disease 0.100 None 0 0
Entrez Id: 56270
Gene Symbol: WDR45B
WDR45B 		WD repeat domain 45B 0.760 0.269 0.16
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis 		disease 0.010 None 1.000 1 0 2017 2017