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: 4537
Gene Symbol: ND3
ND3 		NADH dehydrogenase, subunit 3 (complex I) 0.604 0.654
CUI: C0013421
Disease: Dystonia
Dystonia 		phenotype 0.110 None 1.000 0 0 2007 2007
Entrez Id: 4537
Gene Symbol: ND3
ND3 		NADH dehydrogenase, subunit 3 (complex I) 0.604 0.654
CUI: C1445953
Disease: Poor eye contact
Poor eye contact 		phenotype 0.100 None 0 0
Entrez Id: 4537
Gene Symbol: ND3
ND3 		NADH dehydrogenase, subunit 3 (complex I) 0.604 0.654
CUI: C1836038
Disease: Poor head control
Poor head control 		phenotype 0.100 None 0 0
Entrez Id: 4537
Gene Symbol: ND3
ND3 		NADH dehydrogenase, subunit 3 (complex I) 0.604 0.654
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate 		phenotype 0.100 None 0 0
Entrez Id: 4537
Gene Symbol: ND3
ND3 		NADH dehydrogenase, subunit 3 (complex I) 0.604 0.654
CUI: C1836830
Disease: Developmental regression
Developmental regression 		disease 0.100 None 0 0
Entrez Id: 4537
Gene Symbol: ND3
ND3 		NADH dehydrogenase, subunit 3 (complex I) 0.604 0.654
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		phenotype 0.100 None 0 0
Entrez Id: 4537
Gene Symbol: ND3
ND3 		NADH dehydrogenase, subunit 3 (complex I) 0.604 0.654
CUI: C1838993
Disease: Episodic vomiting
Episodic vomiting 		phenotype 0.100 None 0 0
Entrez Id: 4537
Gene Symbol: ND3
ND3 		NADH dehydrogenase, subunit 3 (complex I) 0.604 0.654
CUI: C1839532
Disease: Low plasma citrulline
Low plasma citrulline 		phenotype 0.100 None 0 0
Entrez Id: 4537
Gene Symbol: ND3
ND3 		NADH dehydrogenase, subunit 3 (complex I) 0.604 0.654
CUI: C1839603
Disease: Proximal tubulopathy
Proximal tubulopathy 		phenotype 0.100 None 0 0
Entrez Id: 4537
Gene Symbol: ND3
ND3 		NADH dehydrogenase, subunit 3 (complex I) 0.604 0.654
CUI: C1167918
Disease: Increased CSF lactate
Increased CSF lactate 		phenotype 0.100 None 0 0
Entrez Id: 4537
Gene Symbol: ND3
ND3 		NADH dehydrogenase, subunit 3 (complex I) 0.604 0.654
CUI: C1112256
Disease: Sensorimotor neuropathy
Sensorimotor neuropathy 		disease 0.100 None 0 0
Entrez Id: 4537
Gene Symbol: ND3
ND3 		NADH dehydrogenase, subunit 3 (complex I) 0.604 0.654
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia 		phenotype 0.100 None 0 0
Entrez Id: 4537
Gene Symbol: ND3
ND3 		NADH dehydrogenase, subunit 3 (complex I) 0.604 0.654
CUI: C0268630
Disease: Hyper-beta-alaninemia
Hyper-beta-alaninemia 		phenotype 0.100 None 0 0
Entrez Id: 4537
Gene Symbol: ND3
ND3 		NADH dehydrogenase, subunit 3 (complex I) 0.604 0.654
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy 		group 0.100 None 0 0
Entrez Id: 4537
Gene Symbol: ND3
ND3 		NADH dehydrogenase, subunit 3 (complex I) 0.604 0.654
CUI: C0270922
Disease: Peripheral demyelinating neuropathy
Peripheral demyelinating neuropathy 		disease 0.100 None 0 0
Entrez Id: 4537
Gene Symbol: ND3
ND3 		NADH dehydrogenase, subunit 3 (complex I) 0.604 0.654
CUI: C0456909
Disease: Blindness
Blindness 		phenotype 0.100 None 0 0
Entrez Id: 4537
Gene Symbol: ND3
ND3 		NADH dehydrogenase, subunit 3 (complex I) 0.604 0.654
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures 		disease 0.100 None 0 0
Entrez Id: 4537
Gene Symbol: ND3
ND3 		NADH dehydrogenase, subunit 3 (complex I) 0.604 0.654
CUI: C0554970
Disease: Pallor of optic disc
Pallor of optic disc 		phenotype 0.100 None 0 0
Entrez Id: 4537
Gene Symbol: ND3
ND3 		NADH dehydrogenase, subunit 3 (complex I) 0.604 0.654
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 4537
Gene Symbol: ND3
ND3 		NADH dehydrogenase, subunit 3 (complex I) 0.604 0.654
CUI: C0751401
Disease: Ophthalmoparesis
Ophthalmoparesis 		phenotype 0.100 None 0 0
Entrez Id: 4537
Gene Symbol: ND3
ND3 		NADH dehydrogenase, subunit 3 (complex I) 0.604 0.654
CUI: C1842820
Disease: Cardiac conduction abnormality
Cardiac conduction abnormality 		phenotype 0.100 None 0 0
Entrez Id: 4537
Gene Symbol: ND3
ND3 		NADH dehydrogenase, subunit 3 (complex I) 0.604 0.654
CUI: C1843077
Disease: Segmental peripheral demyelination/remyelination
Segmental peripheral demyelination/remyelination 		phenotype 0.100 None 0 0
Entrez Id: 4537
Gene Symbol: ND3
ND3 		NADH dehydrogenase, subunit 3 (complex I) 0.604 0.654
CUI: C4021795
Disease: Abnormality of Krebs cycle metabolism
Abnormality of Krebs cycle metabolism 		phenotype 0.100 None 0 0
Entrez Id: 4537
Gene Symbol: ND3
ND3 		NADH dehydrogenase, subunit 3 (complex I) 0.604 0.654
CUI: C4022013
Disease: Multiple glomerular cysts
Multiple glomerular cysts 		phenotype 0.100 None 0 0
Entrez Id: 4537
Gene Symbol: ND3
ND3 		NADH dehydrogenase, subunit 3 (complex I) 0.604 0.654
CUI: C4022748
Disease: Focal T2 hyperintense brainstem lesion
Focal T2 hyperintense brainstem lesion 		phenotype 0.100 None 0 0