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: 5159
Gene Symbol: PDGFRB
PDGFRB 		platelet derived growth factor receptor beta 0.416 0.846 0.90
CUI: C0426422
Disease: Narrow nose
Narrow nose 		phenotype 0.100 None 0 0
Entrez Id: 5159
Gene Symbol: PDGFRB
PDGFRB 		platelet derived growth factor receptor beta 0.416 0.846 0.90
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		phenotype 0.100 None 0 0
Entrez Id: 5159
Gene Symbol: PDGFRB
PDGFRB 		platelet derived growth factor receptor beta 0.416 0.846 0.90
CUI: C0542476
Disease: Forgetful
Forgetful 		phenotype 0.100 None 0 0
Entrez Id: 5159
Gene Symbol: PDGFRB
PDGFRB 		platelet derived growth factor receptor beta 0.416 0.846 0.90
CUI: C0553730
Disease: Calcium pyrophosphate deposition disease
Calcium pyrophosphate deposition disease 		disease 0.100 None 0 0
Entrez Id: 5159
Gene Symbol: PDGFRB
PDGFRB 		platelet derived growth factor receptor beta 0.416 0.846 0.90
CUI: C0575081
Disease: Gait abnormality
Gait abnormality 		group 0.100 None 0 0
Entrez Id: 5159
Gene Symbol: PDGFRB
PDGFRB 		platelet derived growth factor receptor beta 0.416 0.846 0.90
CUI: C0575090
Disease: Equilibration disorder
Equilibration disorder 		phenotype 0.100 None 0 1
Entrez Id: 5159
Gene Symbol: PDGFRB
PDGFRB 		platelet derived growth factor receptor beta 0.416 0.846 0.90
CUI: C0576225
Disease: Long foot
Long foot 		phenotype 0.100 None 0 0
Entrez Id: 5159
Gene Symbol: PDGFRB
PDGFRB 		platelet derived growth factor receptor beta 0.416 0.846 0.90
CUI: C0578038
Disease: Thin lips
Thin lips 		phenotype 0.100 None 0 0
Entrez Id: 5159
Gene Symbol: PDGFRB
PDGFRB 		platelet derived growth factor receptor beta 0.416 0.846 0.90
CUI: C0586553
Disease: Raised TSH level
Raised TSH level 		phenotype 0.100 None 0 0
Entrez Id: 5159
Gene Symbol: PDGFRB
PDGFRB 		platelet derived growth factor receptor beta 0.416 0.846 0.90
CUI: C0749379
Disease: Thoracolumbar scoliosis
Thoracolumbar scoliosis 		disease 0.100 None 0 0
Entrez Id: 5159
Gene Symbol: PDGFRB
PDGFRB 		platelet derived growth factor receptor beta 0.416 0.846 0.90
CUI: C0234979
Disease: Dysdiadochokinesis
Dysdiadochokinesis 		phenotype 0.100 None 0 0
Entrez Id: 5159
Gene Symbol: PDGFRB
PDGFRB 		platelet derived growth factor receptor beta 0.416 0.846 0.90
CUI: C0854107
Disease: Subcutaneous hemorrhage
Subcutaneous hemorrhage 		disease 0.100 None 0 0
Entrez Id: 5159
Gene Symbol: PDGFRB
PDGFRB 		platelet derived growth factor receptor beta 0.416 0.846 0.90
CUI: C0870082
Disease: Hyperkeratosis
Hyperkeratosis 		disease 0.100 None 0 0
Entrez Id: 5159
Gene Symbol: PDGFRB
PDGFRB 		platelet derived growth factor receptor beta 0.416 0.846 0.90
CUI: C1837770
Disease: Sparse hair
Sparse hair 		phenotype 0.100 None 0 0
Entrez Id: 5159
Gene Symbol: PDGFRB
PDGFRB 		platelet derived growth factor receptor beta 0.416 0.846 0.90
CUI: C1842060
Disease: Prominent supraorbital ridges
Prominent supraorbital ridges 		phenotype 0.100 None 0 0
Entrez Id: 5159
Gene Symbol: PDGFRB
PDGFRB 		platelet derived growth factor receptor beta 0.416 0.846 0.90
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		phenotype 0.100 None 0 0
Entrez Id: 5159
Gene Symbol: PDGFRB
PDGFRB 		platelet derived growth factor receptor beta 0.416 0.846 0.90
CUI: C4721411
Disease: Osteolysis
Osteolysis 		phenotype 0.100 None 0 0
Entrez Id: 5159
Gene Symbol: PDGFRB
PDGFRB 		platelet derived growth factor receptor beta 0.416 0.846 0.90
CUI: C4021745
Disease: Abnormality of the musculature
Abnormality of the musculature 		phenotype 0.100 None 0 0
Entrez Id: 5159
Gene Symbol: PDGFRB
PDGFRB 		platelet derived growth factor receptor beta 0.416 0.846 0.90
CUI: C4021797
Disease: Abnormality of the thorax
Abnormality of the thorax 		disease 0.100 None 0 0
Entrez Id: 5159
Gene Symbol: PDGFRB
PDGFRB 		platelet derived growth factor receptor beta 0.416 0.846 0.90
CUI: C4025250
Disease: Abnormal sacrum morphology
Abnormal sacrum morphology 		disease 0.100 None 0 0
Entrez Id: 5159
Gene Symbol: PDGFRB
PDGFRB 		platelet derived growth factor receptor beta 0.416 0.846 0.90
CUI: C4025596
Disease: Abnormality of connective tissue
Abnormality of connective tissue 		disease 0.100 None 0 0
Entrez Id: 5159
Gene Symbol: PDGFRB
PDGFRB 		platelet derived growth factor receptor beta 0.416 0.846 0.90
CUI: C4025703
Disease: Calcification of the small brain vessels
Calcification of the small brain vessels 		phenotype 0.100 None 0 0
Entrez Id: 5159
Gene Symbol: PDGFRB
PDGFRB 		platelet derived growth factor receptor beta 0.416 0.846 0.90
CUI: C4025814
Disease: Abnormality of the metaphysis
Abnormality of the metaphysis 		disease 0.100 None 0 0
Entrez Id: 5159
Gene Symbol: PDGFRB
PDGFRB 		platelet derived growth factor receptor beta 0.416 0.846 0.90
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		phenotype 0.100 None 0 0
Entrez Id: 5159
Gene Symbol: PDGFRB
PDGFRB 		platelet derived growth factor receptor beta 0.416 0.846 0.90
CUI: C4551915
Disease: Gait Disturbance, CTCAE
Gait Disturbance, CTCAE 		phenotype 0.100 None 0 0