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: 271
Gene Symbol: AMPD2
AMPD2 		adenosine monophosphate deaminase 2 0.663 0.577 4.5E-07
CUI: C2673431
Disease: Abnormality of the periventricular white matter
Abnormality of the periventricular white matter 		disease 0.100 None 0 0
Entrez Id: 271
Gene Symbol: AMPD2
AMPD2 		adenosine monophosphate deaminase 2 0.663 0.577 4.5E-07
CUI: C0857379
Disease: Abnormality of the pinna
Abnormality of the pinna 		phenotype 0.100 None 0 0
Entrez Id: 271
Gene Symbol: AMPD2
AMPD2 		adenosine monophosphate deaminase 2 0.663 0.577 4.5E-07
CUI: C3810365
Disease: Central visual impairment
Central visual impairment 		disease 0.100 None 0 0
Entrez Id: 271
Gene Symbol: AMPD2
AMPD2 		adenosine monophosphate deaminase 2 0.663 0.577 4.5E-07
CUI: C4551583
Disease: Cerebral cortical atrophy
Cerebral cortical atrophy 		disease 0.100 None 0 0
Entrez Id: 271
Gene Symbol: AMPD2
AMPD2 		adenosine monophosphate deaminase 2 0.663 0.577 4.5E-07
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		phenotype 0.100 None 0 0
Entrez Id: 271
Gene Symbol: AMPD2
AMPD2 		adenosine monophosphate deaminase 2 0.663 0.577 4.5E-07
CUI: C0009024
Disease: Clonus
Clonus 		phenotype 0.100 None 0 0
Entrez Id: 271
Gene Symbol: AMPD2
AMPD2 		adenosine monophosphate deaminase 2 0.663 0.577 4.5E-07
CUI: C0266449
Disease: Congenital anomaly of brain
Congenital anomaly of brain 		group 0.100 None 0 1
Entrez Id: 271
Gene Symbol: AMPD2
AMPD2 		adenosine monophosphate deaminase 2 0.663 0.577 4.5E-07
CUI: C4048268
Disease: Cortical visual impairment
Cortical visual impairment 		phenotype 0.100 None 0 0
Entrez Id: 271
Gene Symbol: AMPD2
AMPD2 		adenosine monophosphate deaminase 2 0.663 0.577 4.5E-07
CUI: C0241726
Disease: Delayed ability to walk
Delayed ability to walk 		phenotype 0.100 None 0 0
Entrez Id: 271
Gene Symbol: AMPD2
AMPD2 		adenosine monophosphate deaminase 2 0.663 0.577 4.5E-07
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		phenotype 0.100 None 0 0
Entrez Id: 271
Gene Symbol: AMPD2
AMPD2 		adenosine monophosphate deaminase 2 0.663 0.577 4.5E-07
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		phenotype 0.100 None 0 0
Entrez Id: 271
Gene Symbol: AMPD2
AMPD2 		adenosine monophosphate deaminase 2 0.663 0.577 4.5E-07
CUI: C0013336
Disease: Dwarfism
Dwarfism 		disease 0.100 None 0 0
Entrez Id: 271
Gene Symbol: AMPD2
AMPD2 		adenosine monophosphate deaminase 2 0.663 0.577 4.5E-07
CUI: C0014544
Disease: Epilepsy
Epilepsy 		disease 0.100 None 0 1
Entrez Id: 271
Gene Symbol: AMPD2
AMPD2 		adenosine monophosphate deaminase 2 0.663 0.577 4.5E-07
CUI: C1845251
Disease: Facial hypotonia
Facial hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 271
Gene Symbol: AMPD2
AMPD2 		adenosine monophosphate deaminase 2 0.663 0.577 4.5E-07
CUI: C0231698
Disease: Gait, Scissors
Gait, Scissors 		phenotype 0.100 None 0 0
Entrez Id: 271
Gene Symbol: AMPD2
AMPD2 		adenosine monophosphate deaminase 2 0.663 0.577 4.5E-07
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 1
Entrez Id: 271
Gene Symbol: AMPD2
AMPD2 		adenosine monophosphate deaminase 2 0.663 0.577 4.5E-07
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		disease 0.100 None 0 0
Entrez Id: 271
Gene Symbol: AMPD2
AMPD2 		adenosine monophosphate deaminase 2 0.663 0.577 4.5E-07
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		phenotype 0.100 None 0 0
Entrez Id: 271
Gene Symbol: AMPD2
AMPD2 		adenosine monophosphate deaminase 2 0.663 0.577 4.5E-07
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		disease 0.100 None 0 0
Entrez Id: 271
Gene Symbol: AMPD2
AMPD2 		adenosine monophosphate deaminase 2 0.663 0.577 4.5E-07
CUI: C0024421
Disease: Macroglossia
Macroglossia 		disease 0.100 None 0 0
Entrez Id: 271
Gene Symbol: AMPD2
AMPD2 		adenosine monophosphate deaminase 2 0.663 0.577 4.5E-07
CUI: C1853242
Disease: Midface retrusion
Midface retrusion 		phenotype 0.100 None 0 0
Entrez Id: 271
Gene Symbol: AMPD2
AMPD2 		adenosine monophosphate deaminase 2 0.663 0.577 4.5E-07
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		phenotype 0.100 None 0 0
Entrez Id: 271
Gene Symbol: AMPD2
AMPD2 		adenosine monophosphate deaminase 2 0.663 0.577 4.5E-07
CUI: C1853743
Disease: Muscular hypotonia of the trunk
Muscular hypotonia of the trunk 		phenotype 0.100 None 0 0
Entrez Id: 271
Gene Symbol: AMPD2
AMPD2 		adenosine monophosphate deaminase 2 0.663 0.577 4.5E-07
CUI: C1839758
Disease: Narrow forehead
Narrow forehead 		phenotype 0.100 None 0 0
Entrez Id: 271
Gene Symbol: AMPD2
AMPD2 		adenosine monophosphate deaminase 2 0.663 0.577 4.5E-07
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		disease 0.100 None 0 0