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: 50
Gene Symbol: ACO2
ACO2 		aconitase 2 0.619 0.654 0.21
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		disease 0.120 None 1.000 0 0 2014 2019
Entrez Id: 50
Gene Symbol: ACO2
ACO2 		aconitase 2 0.619 0.654 0.21
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		disease 0.120 None 1.000 0 0 2014 2015
Entrez Id: 50
Gene Symbol: ACO2
ACO2 		aconitase 2 0.619 0.654 0.21
CUI: C0004134
Disease: Ataxia
Ataxia 		phenotype 0.100 None 0 0
Entrez Id: 50
Gene Symbol: ACO2
ACO2 		aconitase 2 0.619 0.654 0.21
CUI: C0271197
Disease: Scotoma, Paracentral
Scotoma, Paracentral 		phenotype 0.100 None 0 0
Entrez Id: 50
Gene Symbol: ACO2
ACO2 		aconitase 2 0.619 0.654 0.21
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		disease 0.100 None 0 0
Entrez Id: 50
Gene Symbol: ACO2
ACO2 		aconitase 2 0.619 0.654 0.21
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		group 0.100 None 0 0
Entrez Id: 50
Gene Symbol: ACO2
ACO2 		aconitase 2 0.619 0.654 0.21
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		phenotype 0.100 None 0 0
Entrez Id: 50
Gene Symbol: ACO2
ACO2 		aconitase 2 0.619 0.654 0.21
CUI: C1850456
Disease: Progressive microcephaly
Progressive microcephaly 		phenotype 0.100 None 0 0
Entrez Id: 50
Gene Symbol: ACO2
ACO2 		aconitase 2 0.619 0.654 0.21
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 50
Gene Symbol: ACO2
ACO2 		aconitase 2 0.619 0.654 0.21
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		phenotype 0.100 None 0 0
Entrez Id: 50
Gene Symbol: ACO2
ACO2 		aconitase 2 0.619 0.654 0.21
CUI: C4551583
Disease: Cerebral cortical atrophy
Cerebral cortical atrophy 		disease 0.100 None 0 0
Entrez Id: 50
Gene Symbol: ACO2
ACO2 		aconitase 2 0.619 0.654 0.21
CUI: C0270922
Disease: Peripheral demyelinating neuropathy
Peripheral demyelinating neuropathy 		disease 0.100 None 0 0
Entrez Id: 50
Gene Symbol: ACO2
ACO2 		aconitase 2 0.619 0.654 0.21
CUI: C0234632
Disease: Reduced visual acuity
Reduced visual acuity 		phenotype 0.100 None 0 0
Entrez Id: 50
Gene Symbol: ACO2
ACO2 		aconitase 2 0.619 0.654 0.21
CUI: C0234146
Disease: Absent reflex
Absent reflex 		phenotype 0.100 None 0 0
Entrez Id: 50
Gene Symbol: ACO2
ACO2 		aconitase 2 0.619 0.654 0.21
CUI: C0004158
Disease: Athetosis
Athetosis 		phenotype 0.100 None 0 0
Entrez Id: 50
Gene Symbol: ACO2
ACO2 		aconitase 2 0.619 0.654 0.21
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		disease 0.100 None 0 0
Entrez Id: 50
Gene Symbol: ACO2
ACO2 		aconitase 2 0.619 0.654 0.21
CUI: C0028738
Disease: Nystagmus
Nystagmus 		disease 0.100 None 0 0
Entrez Id: 50
Gene Symbol: ACO2
ACO2 		aconitase 2 0.619 0.654 0.21
CUI: C0030232
Disease: Pallor
Pallor 		phenotype 0.100 None 0 0
Entrez Id: 50
Gene Symbol: ACO2
ACO2 		aconitase 2 0.619 0.654 0.21
CUI: C0036572
Disease: Seizures
Seizures 		phenotype 0.100 None 0 0
Entrez Id: 50
Gene Symbol: ACO2
ACO2 		aconitase 2 0.619 0.654 0.21
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		disease 0.100 None 0 0
Entrez Id: 50
Gene Symbol: ACO2
ACO2 		aconitase 2 0.619 0.654 0.21
CUI: C0038379
Disease: Strabismus
Strabismus 		disease 0.100 None 0 0
Entrez Id: 50
Gene Symbol: ACO2
ACO2 		aconitase 2 0.619 0.654 0.21
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia 		phenotype 0.100 None 0 0
Entrez Id: 50
Gene Symbol: ACO2
ACO2 		aconitase 2 0.619 0.654 0.21
CUI: C0155016
Disease: Color Blindness, Red-Green
Color Blindness, Red-Green 		disease 0.100 None 0 0
Entrez Id: 50
Gene Symbol: ACO2
ACO2 		aconitase 2 0.619 0.654 0.21
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		phenotype 0.100 None 0 0