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: 51103
Gene Symbol: NDUFAF1
NDUFAF1 		NADH:ubiquinone oxidoreductase complex assembly factor 1 0.700 0.308 3.6E-03
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		disease 0.110 None 1.000 0 0 2011 2011
Entrez Id: 51103
Gene Symbol: NDUFAF1
NDUFAF1 		NADH:ubiquinone oxidoreductase complex assembly factor 1 0.700 0.308 3.6E-03
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		phenotype 0.100 None 0 0
Entrez Id: 51103
Gene Symbol: NDUFAF1
NDUFAF1 		NADH:ubiquinone oxidoreductase complex assembly factor 1 0.700 0.308 3.6E-03
CUI: C1445953
Disease: Poor eye contact
Poor eye contact 		phenotype 0.100 None 0 0
Entrez Id: 51103
Gene Symbol: NDUFAF1
NDUFAF1 		NADH:ubiquinone oxidoreductase complex assembly factor 1 0.700 0.308 3.6E-03
CUI: C1167918
Disease: Increased CSF lactate
Increased CSF lactate 		phenotype 0.100 None 0 0
Entrez Id: 51103
Gene Symbol: NDUFAF1
NDUFAF1 		NADH:ubiquinone oxidoreductase complex assembly factor 1 0.700 0.308 3.6E-03
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 51103
Gene Symbol: NDUFAF1
NDUFAF1 		NADH:ubiquinone oxidoreductase complex assembly factor 1 0.700 0.308 3.6E-03
CUI: C0554970
Disease: Pallor of optic disc
Pallor of optic disc 		phenotype 0.100 None 0 0
Entrez Id: 51103
Gene Symbol: NDUFAF1
NDUFAF1 		NADH:ubiquinone oxidoreductase complex assembly factor 1 0.700 0.308 3.6E-03
CUI: C0456909
Disease: Blindness
Blindness 		phenotype 0.100 None 0 0
Entrez Id: 51103
Gene Symbol: NDUFAF1
NDUFAF1 		NADH:ubiquinone oxidoreductase complex assembly factor 1 0.700 0.308 3.6E-03
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy 		group 0.100 None 0 0
Entrez Id: 51103
Gene Symbol: NDUFAF1
NDUFAF1 		NADH:ubiquinone oxidoreductase complex assembly factor 1 0.700 0.308 3.6E-03
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		phenotype 0.100 None 0 0
Entrez Id: 51103
Gene Symbol: NDUFAF1
NDUFAF1 		NADH:ubiquinone oxidoreductase complex assembly factor 1 0.700 0.308 3.6E-03
CUI: C0220981
Disease: Metabolic acidosis
Metabolic acidosis 		phenotype 0.100 None 0 0
Entrez Id: 51103
Gene Symbol: NDUFAF1
NDUFAF1 		NADH:ubiquinone oxidoreductase complex assembly factor 1 0.700 0.308 3.6E-03
CUI: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies 		group 0.100 None 0 0
Entrez Id: 51103
Gene Symbol: NDUFAF1
NDUFAF1 		NADH:ubiquinone oxidoreductase complex assembly factor 1 0.700 0.308 3.6E-03
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		group 0.100 None 0 0
Entrez Id: 51103
Gene Symbol: NDUFAF1
NDUFAF1 		NADH:ubiquinone oxidoreductase complex assembly factor 1 0.700 0.308 3.6E-03
CUI: C1836038
Disease: Poor head control
Poor head control 		phenotype 0.100 None 0 0
Entrez Id: 51103
Gene Symbol: NDUFAF1
NDUFAF1 		NADH:ubiquinone oxidoreductase complex assembly factor 1 0.700 0.308 3.6E-03
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate 		phenotype 0.100 None 0 0
Entrez Id: 51103
Gene Symbol: NDUFAF1
NDUFAF1 		NADH:ubiquinone oxidoreductase complex assembly factor 1 0.700 0.308 3.6E-03
CUI: C4022748
Disease: Focal T2 hyperintense brainstem lesion
Focal T2 hyperintense brainstem lesion 		phenotype 0.100 None 0 0
Entrez Id: 51103
Gene Symbol: NDUFAF1
NDUFAF1 		NADH:ubiquinone oxidoreductase complex assembly factor 1 0.700 0.308 3.6E-03
CUI: C4021546
Disease: Abnormal mitochondria in muscle tissue
Abnormal mitochondria in muscle tissue 		disease 0.100 None 0 0
Entrez Id: 51103
Gene Symbol: NDUFAF1
NDUFAF1 		NADH:ubiquinone oxidoreductase complex assembly factor 1 0.700 0.308 3.6E-03
CUI: C2677650
Disease: Decreased activity of mitochondrial complex I
Decreased activity of mitochondrial complex I 		phenotype 0.100 None 0 0
Entrez Id: 51103
Gene Symbol: NDUFAF1
NDUFAF1 		NADH:ubiquinone oxidoreductase complex assembly factor 1 0.700 0.308 3.6E-03
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		phenotype 0.100 None 0 0
Entrez Id: 51103
Gene Symbol: NDUFAF1
NDUFAF1 		NADH:ubiquinone oxidoreductase complex assembly factor 1 0.700 0.308 3.6E-03
CUI: C1962966
Disease: Retinopathy, CTCAE
Retinopathy, CTCAE 		phenotype 0.100 None 0 0
Entrez Id: 51103
Gene Symbol: NDUFAF1
NDUFAF1 		NADH:ubiquinone oxidoreductase complex assembly factor 1 0.700 0.308 3.6E-03
CUI: C1861403
Disease: Variable expressivity
Variable expressivity 		phenotype 0.100 None 0 0
Entrez Id: 51103
Gene Symbol: NDUFAF1
NDUFAF1 		NADH:ubiquinone oxidoreductase complex assembly factor 1 0.700 0.308 3.6E-03
CUI: C1849488
Disease: Increased serum pyruvate
Increased serum pyruvate 		phenotype 0.100 None 0 0
Entrez Id: 51103
Gene Symbol: NDUFAF1
NDUFAF1 		NADH:ubiquinone oxidoreductase complex assembly factor 1 0.700 0.308 3.6E-03
CUI: C1847515
Disease: Paroxysmal involuntary eye movements
Paroxysmal involuntary eye movements 		phenotype 0.100 None 0 0
Entrez Id: 51103
Gene Symbol: NDUFAF1
NDUFAF1 		NADH:ubiquinone oxidoreductase complex assembly factor 1 0.700 0.308 3.6E-03
CUI: C1839603
Disease: Proximal tubulopathy
Proximal tubulopathy 		phenotype 0.100 None 0 0
Entrez Id: 51103
Gene Symbol: NDUFAF1
NDUFAF1 		NADH:ubiquinone oxidoreductase complex assembly factor 1 0.700 0.308 3.6E-03
CUI: C1837256
Disease: Macrovesicular hepatic steatosis
Macrovesicular hepatic steatosis 		phenotype 0.100 None 0 0
Entrez Id: 51103
Gene Symbol: NDUFAF1
NDUFAF1 		NADH:ubiquinone oxidoreductase complex assembly factor 1 0.700 0.308 3.6E-03
CUI: C0042963
Disease: Vomiting
Vomiting 		phenotype 0.100 None 0 0