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: C4014354
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 9
PONTOCEREBELLAR HYPOPLASIA, TYPE 9 		disease 0.730 None 1.000 0 7 2013 2020
Entrez Id: 271
Gene Symbol: AMPD2
AMPD2 		adenosine monophosphate deaminase 2 0.663 0.577 4.5E-07
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		disease 0.120 None 1.000 0 0 2018 2019
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: C1850456
Disease: Progressive microcephaly
Progressive microcephaly 		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: C1848977
Disease: Short upper lip
Short upper lip 		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: 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: 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: 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: 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: 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: 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: 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: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		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: 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: 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: 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: C1263857
Disease: Peripheral axonal neuropathy
Peripheral axonal neuropathy 		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: C1262477
Disease: Weight decreased
Weight decreased 		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: 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: 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: 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: 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: C0029124
Disease: Optic Atrophy
Optic Atrophy 		disease 0.100 None 0 0