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: 25915
Gene Symbol: NDUFAF3
NDUFAF3
NADH:ubiquinone oxidoreductase complex assembly factor 3 0.650 0.577 5.3E-03
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18
disease 0.600 strong 1.000 0 3 2009 2017
Entrez Id: 25915
Gene Symbol: NDUFAF3
NDUFAF3
NADH:ubiquinone oxidoreductase complex assembly factor 3 0.650 0.577 5.3E-03
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy
group 0.110 None 1.000 0 0 2018 2018
Entrez Id: 25915
Gene Symbol: NDUFAF3
NDUFAF3
NADH:ubiquinone oxidoreductase complex assembly factor 3 0.650 0.577 5.3E-03
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 0 0
Entrez Id: 25915
Gene Symbol: NDUFAF3
NDUFAF3
NADH:ubiquinone oxidoreductase complex assembly factor 3 0.650 0.577 5.3E-03
CUI: C1837142
Disease: Poor suck
Poor suck
phenotype 0.100 None 0 0
Entrez Id: 25915
Gene Symbol: NDUFAF3
NDUFAF3
NADH:ubiquinone oxidoreductase complex assembly factor 3 0.650 0.577 5.3E-03
CUI: C1839603
Disease: Proximal tubulopathy
Proximal tubulopathy
phenotype 0.100 None 0 0
Entrez Id: 25915
Gene Symbol: NDUFAF3
NDUFAF3
NADH:ubiquinone oxidoreductase complex assembly factor 3 0.650 0.577 5.3E-03
CUI: C1842820
Disease: Cardiac conduction abnormality
Cardiac conduction abnormality
phenotype 0.100 None 0 0
Entrez Id: 25915
Gene Symbol: NDUFAF3
NDUFAF3
NADH:ubiquinone oxidoreductase complex assembly factor 3 0.650 0.577 5.3E-03
Paroxysmal involuntary eye movements
phenotype 0.100 None 0 0
Entrez Id: 25915
Gene Symbol: NDUFAF3
NDUFAF3
NADH:ubiquinone oxidoreductase complex assembly factor 3 0.650 0.577 5.3E-03
CUI: C1849488
Disease: Increased serum pyruvate
Increased serum pyruvate
phenotype 0.100 None 0 0
Entrez Id: 25915
Gene Symbol: NDUFAF3
NDUFAF3
NADH:ubiquinone oxidoreductase complex assembly factor 3 0.650 0.577 5.3E-03
CUI: C1850601
Disease: Abnormality of brainstem morphology
Abnormality of brainstem morphology
phenotype 0.100 None 0 0
Entrez Id: 25915
Gene Symbol: NDUFAF3
NDUFAF3
NADH:ubiquinone oxidoreductase complex assembly factor 3 0.650 0.577 5.3E-03
CUI: C1851959
Disease: Fluctuations in consciousness
Fluctuations in consciousness
phenotype 0.100 None 0 0
Entrez Id: 25915
Gene Symbol: NDUFAF3
NDUFAF3
NADH:ubiquinone oxidoreductase complex assembly factor 3 0.650 0.577 5.3E-03
CUI: C1858427
Disease: Limited extraocular movements
Limited extraocular movements
phenotype 0.100 None 0 0
Entrez Id: 25915
Gene Symbol: NDUFAF3
NDUFAF3
NADH:ubiquinone oxidoreductase complex assembly factor 3 0.650 0.577 5.3E-03
CUI: C0456909
Disease: Blindness
Blindness
phenotype 0.100 None 0 0
Entrez Id: 25915
Gene Symbol: NDUFAF3
NDUFAF3
NADH:ubiquinone oxidoreductase complex assembly factor 3 0.650 0.577 5.3E-03
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate
phenotype 0.100 None 0 0
Entrez Id: 25915
Gene Symbol: NDUFAF3
NDUFAF3
NADH:ubiquinone oxidoreductase complex assembly factor 3 0.650 0.577 5.3E-03
CUI: C1836038
Disease: Poor head control
Poor head control
phenotype 0.100 None 0 0
Entrez Id: 25915
Gene Symbol: NDUFAF3
NDUFAF3
NADH:ubiquinone oxidoreductase complex assembly factor 3 0.650 0.577 5.3E-03
CUI: C0476273
Disease: Respiratory distress
Respiratory distress
phenotype 0.100 None 0 0
Entrez Id: 25915
Gene Symbol: NDUFAF3
NDUFAF3
NADH:ubiquinone oxidoreductase complex assembly factor 3 0.650 0.577 5.3E-03
CUI: C0554970
Disease: Pallor of optic disc
Pallor of optic disc
phenotype 0.100 None 0 0
Entrez Id: 25915
Gene Symbol: NDUFAF3
NDUFAF3
NADH:ubiquinone oxidoreductase complex assembly factor 3 0.650 0.577 5.3E-03
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 None 0 0
Entrez Id: 25915
Gene Symbol: NDUFAF3
NDUFAF3
NADH:ubiquinone oxidoreductase complex assembly factor 3 0.650 0.577 5.3E-03
CUI: C1145670
Disease: Respiratory Failure
Respiratory Failure
disease 0.100 None 0 0
Entrez Id: 25915
Gene Symbol: NDUFAF3
NDUFAF3
NADH:ubiquinone oxidoreductase complex assembly factor 3 0.650 0.577 5.3E-03
CUI: C1167918
Disease: Increased CSF lactate
Increased CSF lactate
phenotype 0.100 None 0 0
Entrez Id: 25915
Gene Symbol: NDUFAF3
NDUFAF3
NADH:ubiquinone oxidoreductase complex assembly factor 3 0.650 0.577 5.3E-03
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.100 None 0 0
Entrez Id: 25915
Gene Symbol: NDUFAF3
NDUFAF3
NADH:ubiquinone oxidoreductase complex assembly factor 3 0.650 0.577 5.3E-03
CUI: C1445953
Disease: Poor eye contact
Poor eye contact
phenotype 0.100 None 0 0
Entrez Id: 25915
Gene Symbol: NDUFAF3
NDUFAF3
NADH:ubiquinone oxidoreductase complex assembly factor 3 0.650 0.577 5.3E-03
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly
phenotype 0.100 None 0 0
Entrez Id: 25915
Gene Symbol: NDUFAF3
NDUFAF3
NADH:ubiquinone oxidoreductase complex assembly factor 3 0.650 0.577 5.3E-03
Congenital absence of kidneys syndrome
disease 0.100 None 0 0
Entrez Id: 25915
Gene Symbol: NDUFAF3
NDUFAF3
NADH:ubiquinone oxidoreductase complex assembly factor 3 0.650 0.577 5.3E-03
CUI: C1858430
Disease: Death in infancy
Death in infancy
phenotype 0.100 None 0 0
Entrez Id: 25915
Gene Symbol: NDUFAF3
NDUFAF3
NADH:ubiquinone oxidoreductase complex assembly factor 3 0.650 0.577 5.3E-03
CUI: C2750913
Disease: Neuronal loss in basal ganglia
Neuronal loss in basal ganglia
phenotype 0.100 None 0 0