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: 4535
Gene Symbol: ND1
ND1 		NADH dehydrogenase, subunit 1 (complex I) 0.522 0.769
CUI: C1844945
Disease: Episodic respiratory distress
Episodic respiratory distress 		phenotype 0.100 None 0 0
Entrez Id: 4535
Gene Symbol: ND1
ND1 		NADH dehydrogenase, subunit 1 (complex I) 0.522 0.769
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency 		disease 0.100 None 0 0
Entrez Id: 4535
Gene Symbol: ND1
ND1 		NADH dehydrogenase, subunit 1 (complex I) 0.522 0.769
CUI: C1557375
Disease: Blurred Vision, CTCAE
Blurred Vision, CTCAE 		phenotype 0.100 None 0 0
Entrez Id: 4535
Gene Symbol: ND1
ND1 		NADH dehydrogenase, subunit 1 (complex I) 0.522 0.769
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		phenotype 0.100 None 0 0
Entrez Id: 4535
Gene Symbol: ND1
ND1 		NADH dehydrogenase, subunit 1 (complex I) 0.522 0.769
CUI: C1445953
Disease: Poor eye contact
Poor eye contact 		phenotype 0.100 None 0 0
Entrez Id: 4535
Gene Symbol: ND1
ND1 		NADH dehydrogenase, subunit 1 (complex I) 0.522 0.769
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		disease 0.100 None 0 0
Entrez Id: 4535
Gene Symbol: ND1
ND1 		NADH dehydrogenase, subunit 1 (complex I) 0.522 0.769
CUI: C1167918
Disease: Increased CSF lactate
Increased CSF lactate 		phenotype 0.100 None 0 0
Entrez Id: 4535
Gene Symbol: ND1
ND1 		NADH dehydrogenase, subunit 1 (complex I) 0.522 0.769
CUI: C1112256
Disease: Sensorimotor neuropathy
Sensorimotor neuropathy 		disease 0.100 None 0 0
Entrez Id: 4535
Gene Symbol: ND1
ND1 		NADH dehydrogenase, subunit 1 (complex I) 0.522 0.769
CUI: C0917798
Disease: Cerebral Ischemia
Cerebral Ischemia 		disease 0.100 None 0 0
Entrez Id: 4535
Gene Symbol: ND1
ND1 		NADH dehydrogenase, subunit 1 (complex I) 0.522 0.769
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		disease 0.700 None 1.000 0 0 1991 2018
Entrez Id: 4535
Gene Symbol: ND1
ND1 		NADH dehydrogenase, subunit 1 (complex I) 0.522 0.769
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia 		phenotype 0.100 None 0 0
Entrez Id: 4535
Gene Symbol: ND1
ND1 		NADH dehydrogenase, subunit 1 (complex I) 0.522 0.769
CUI: C0751401
Disease: Ophthalmoparesis
Ophthalmoparesis 		phenotype 0.100 None 0 0
Entrez Id: 4535
Gene Symbol: ND1
ND1 		NADH dehydrogenase, subunit 1 (complex I) 0.522 0.769
CUI: C1697453
Disease: Spontaneous hematomas
Spontaneous hematomas 		disease 0.100 None 0 0
Entrez Id: 4535
Gene Symbol: ND1
ND1 		NADH dehydrogenase, subunit 1 (complex I) 0.522 0.769
CUI: C1836038
Disease: Poor head control
Poor head control 		phenotype 0.100 None 0 0
Entrez Id: 4535
Gene Symbol: ND1
ND1 		NADH dehydrogenase, subunit 1 (complex I) 0.522 0.769
CUI: C1843156
Disease: Progressive sensorineural hearing impairment
Progressive sensorineural hearing impairment 		disease 0.100 None 0 0
Entrez Id: 4535
Gene Symbol: ND1
ND1 		NADH dehydrogenase, subunit 1 (complex I) 0.522 0.769
CUI: C1843077
Disease: Segmental peripheral demyelination/remyelination
Segmental peripheral demyelination/remyelination 		phenotype 0.100 None 0 0
Entrez Id: 4535
Gene Symbol: ND1
ND1 		NADH dehydrogenase, subunit 1 (complex I) 0.522 0.769
CUI: C1842820
Disease: Cardiac conduction abnormality
Cardiac conduction abnormality 		phenotype 0.100 None 0 0
Entrez Id: 4535
Gene Symbol: ND1
ND1 		NADH dehydrogenase, subunit 1 (complex I) 0.522 0.769
CUI: C1839603
Disease: Proximal tubulopathy
Proximal tubulopathy 		phenotype 0.100 None 0 0
Entrez Id: 4535
Gene Symbol: ND1
ND1 		NADH dehydrogenase, subunit 1 (complex I) 0.522 0.769
CUI: C1839532
Disease: Low plasma citrulline
Low plasma citrulline 		phenotype 0.100 None 0 0
Entrez Id: 4535
Gene Symbol: ND1
ND1 		NADH dehydrogenase, subunit 1 (complex I) 0.522 0.769
CUI: C1838993
Disease: Episodic vomiting
Episodic vomiting 		phenotype 0.100 None 0 0
Entrez Id: 4535
Gene Symbol: ND1
ND1 		NADH dehydrogenase, subunit 1 (complex I) 0.522 0.769
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		phenotype 0.100 None 0 0
Entrez Id: 4535
Gene Symbol: ND1
ND1 		NADH dehydrogenase, subunit 1 (complex I) 0.522 0.769
CUI: C1837249
Disease: Malformations of Cortical Development, Group II
Malformations of Cortical Development, Group II 		disease 0.100 None 0 0
Entrez Id: 4535
Gene Symbol: ND1
ND1 		NADH dehydrogenase, subunit 1 (complex I) 0.522 0.769
CUI: C1836830
Disease: Developmental regression
Developmental regression 		disease 0.100 None 0 0
Entrez Id: 4535
Gene Symbol: ND1
ND1 		NADH dehydrogenase, subunit 1 (complex I) 0.522 0.769
CUI: C1836735
Disease: hypopigmented skin patch
hypopigmented skin patch 		phenotype 0.100 None 0 0
Entrez Id: 4535
Gene Symbol: ND1
ND1 		NADH dehydrogenase, subunit 1 (complex I) 0.522 0.769
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate 		phenotype 0.100 None 0 0