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: 4512
Gene Symbol: COX1
COX1 		cytochrome c oxidase subunit I 0.441 0.885
CUI: C0262361
Disease: Growth abnormality
Growth abnormality 		phenotype 0.100 None 0 0
Entrez Id: 4512
Gene Symbol: COX1
COX1 		cytochrome c oxidase subunit I 0.441 0.885
CUI: C0270685
Disease: Cerebral calcification
Cerebral calcification 		phenotype 0.100 None 0 0
Entrez Id: 4512
Gene Symbol: COX1
COX1 		cytochrome c oxidase subunit I 0.441 0.885
CUI: C0271196
Disease: Scotoma, Centrocecal
Scotoma, Centrocecal 		phenotype 0.100 None 0 0
Entrez Id: 4512
Gene Symbol: COX1
COX1 		cytochrome c oxidase subunit I 0.441 0.885
CUI: C0338614
Disease: Psychotic episodes
Psychotic episodes 		disease 0.100 None 0 0
Entrez Id: 4512
Gene Symbol: COX1
COX1 		cytochrome c oxidase subunit I 0.441 0.885
CUI: C0340643
Disease: Dissection of aorta
Dissection of aorta 		disease 0.100 None 0 0
Entrez Id: 4512
Gene Symbol: COX1
COX1 		cytochrome c oxidase subunit I 0.441 0.885
CUI: C0344232
Disease: Blurred vision
Blurred vision 		phenotype 0.100 None 0 0
Entrez Id: 4512
Gene Symbol: COX1
COX1 		cytochrome c oxidase subunit I 0.441 0.885
CUI: C0349588
Disease: Short stature
Short stature 		phenotype 0.100 None 0 0
Entrez Id: 4512
Gene Symbol: COX1
COX1 		cytochrome c oxidase subunit I 0.441 0.885
CUI: C0376480
Disease: Gingival Overgrowth
Gingival Overgrowth 		phenotype 0.100 None 0 0
Entrez Id: 4512
Gene Symbol: COX1
COX1 		cytochrome c oxidase subunit I 0.441 0.885
CUI: C0424448
Disease: Mask-like facies
Mask-like facies 		phenotype 0.100 None 0 0
Entrez Id: 4512
Gene Symbol: COX1
COX1 		cytochrome c oxidase subunit I 0.441 0.885
CUI: C0452138
Disease: Sensorineural hearing loss, bilateral
Sensorineural hearing loss, bilateral 		disease 0.100 None 0 0
Entrez Id: 4512
Gene Symbol: COX1
COX1 		cytochrome c oxidase subunit I 0.441 0.885
CUI: C0476403
Disease: Electromyogram abnormal
Electromyogram abnormal 		phenotype 0.100 None 0 0
Entrez Id: 4512
Gene Symbol: COX1
COX1 		cytochrome c oxidase subunit I 0.441 0.885
CUI: C1837249
Disease: Malformations of Cortical Development, Group II
Malformations of Cortical Development, Group II 		disease 0.100 None 0 0
Entrez Id: 4512
Gene Symbol: COX1
COX1 		cytochrome c oxidase subunit I 0.441 0.885
CUI: C1838877
Disease: Myoglobinuria, Recurrent
Myoglobinuria, Recurrent 		phenotype 0.100 None 0 1
Entrez Id: 4512
Gene Symbol: COX1
COX1 		cytochrome c oxidase subunit I 0.441 0.885
CUI: C1838993
Disease: Episodic vomiting
Episodic vomiting 		phenotype 0.100 None 0 0
Entrez Id: 4512
Gene Symbol: COX1
COX1 		cytochrome c oxidase subunit I 0.441 0.885
CUI: C3279222
Disease: Aplasia/Hypoplasia of the cerebellum
Aplasia/Hypoplasia of the cerebellum 		phenotype 0.100 None 0 0
Entrez Id: 4512
Gene Symbol: COX1
COX1 		cytochrome c oxidase subunit I 0.441 0.885
CUI: C3714745
Disease: Malabsorption
Malabsorption 		phenotype 0.100 None 0 0
Entrez Id: 4512
Gene Symbol: COX1
COX1 		cytochrome c oxidase subunit I 0.441 0.885
CUI: C3810365
Disease: Central visual impairment
Central visual impairment 		disease 0.100 None 0 0
Entrez Id: 4512
Gene Symbol: COX1
COX1 		cytochrome c oxidase subunit I 0.441 0.885
CUI: C4016601
Disease: SIDEROBLASTIC ANEMIA, ACQUIRED IDIOPATHIC
SIDEROBLASTIC ANEMIA, ACQUIRED IDIOPATHIC 		disease 0.100 None 0 2
Entrez Id: 4512
Gene Symbol: COX1
COX1 		cytochrome c oxidase subunit I 0.441 0.885
CUI: C4016602
Disease: CYTOCHROME c OXIDASE I DEFICIENCY
CYTOCHROME c OXIDASE I DEFICIENCY 		disease 0.100 None 0 1
Entrez Id: 4512
Gene Symbol: COX1
COX1 		cytochrome c oxidase subunit I 0.441 0.885
CUI: C4021734
Disease: Abnormality of mitochondrial metabolism
Abnormality of mitochondrial metabolism 		phenotype 0.100 None 0 0
Entrez Id: 4512
Gene Symbol: COX1
COX1 		cytochrome c oxidase subunit I 0.441 0.885
CUI: C4022012
Disease: Death in early adulthood
Death in early adulthood 		phenotype 0.100 None 0 0
Entrez Id: 4512
Gene Symbol: COX1
COX1 		cytochrome c oxidase subunit I 0.441 0.885
CUI: C4025732
Disease: Tubulointerstitial abnormality
Tubulointerstitial abnormality 		disease 0.100 None 0 0
Entrez Id: 4512
Gene Symbol: COX1
COX1 		cytochrome c oxidase subunit I 0.441 0.885
CUI: C4025821
Disease: Anterior hypopituitarism
Anterior hypopituitarism 		disease 0.100 None 0 0
Entrez Id: 4512
Gene Symbol: COX1
COX1 		cytochrome c oxidase subunit I 0.441 0.885
CUI: C4048268
Disease: Cortical visual impairment
Cortical visual impairment 		phenotype 0.100 None 0 0
Entrez Id: 4512
Gene Symbol: COX1
COX1 		cytochrome c oxidase subunit I 0.441 0.885
CUI: C4520679
Disease: Abnormal macular morphology
Abnormal macular morphology 		phenotype 0.100 None 0 0