Source: ALL
Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
CUI: C1837402
Disease: Flat occiput
Flat occiput 		45 0 1 1.2E-03 0 0
CUI: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		43 0 1 1.2E-03 0 0
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy 		42 0 1 1.2E-03 0 0
CUI: C0231921
Disease: Pulmonary function
Pulmonary function 		41 0 1 1.2E-03 0 0
CUI: C0270834
Disease: Complex partial seizure with impairment of consciousness
Complex partial seizure with impairment of consciousness 		41 0 1 1.2E-03 0 0
CUI: C1859470
Disease: Large basal ganglia
Large basal ganglia 		41 0 1 1.2E-03 0 0
CUI: C2677650
Disease: Decreased activity of mitochondrial complex I
Decreased activity of mitochondrial complex I 		41 0 1 1.2E-03 0 0
CUI: C3160731
Disease: Pulmonary function (finding)
Pulmonary function (finding) 		41 0 1 1.2E-03 0 0
CUI: C3278975
Disease: Attenuation of retinal blood vessels
Attenuation of retinal blood vessels 		41 0 1 1.2E-03 0 0
CUI: C4023687
Disease: EEG with multifocal slow activity
EEG with multifocal slow activity 		41 0 1 1.2E-03 0 0
CUI: C4082169
Disease: Metatarsus Varus
Metatarsus Varus 		41 0 1 1.2E-03 0 0
CUI: C0266039
Disease: Taurodontism
Taurodontism 		40 0 1 1.2E-03 0 0
CUI: C1838951
Disease: LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY 		40 0 1 1.2E-03 0 0
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		40 0 1 1.2E-03 0 0
CUI: C0020256
Disease: Congenital Hydrocephalus
Congenital Hydrocephalus 		39 0 1 1.2E-03 0 0
CUI: C1849134
Disease: Impaired vibration sensation in the lower limbs
Impaired vibration sensation in the lower limbs 		39 0 1 1.2E-03 0 0
CUI: C2749675
Disease: Cortical gyral simplification
Cortical gyral simplification 		39 0 1 1.2E-03 0 0
CUI: C3178805
Disease: Heterotaxy Syndrome
Heterotaxy Syndrome 		39 0 1 1.2E-03 0 0
CUI: C0431368
Disease: Partial agenesis of corpus callosum
Partial agenesis of corpus callosum 		38 0 1 1.2E-03 0 0
CUI: C1846647
Disease: DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE (disorder) 		38 0 1 1.2E-03 0 0
CUI: C4023342
Disease: Gastrostomy tube feeding in infancy
Gastrostomy tube feeding in infancy 		38 0 1 1.2E-03 0 0
CUI: C1850599
Disease: Leigh Syndrome due to Mitochondrial Complex IV Deficiency
Leigh Syndrome due to Mitochondrial Complex IV Deficiency 		37 0 1 1.2E-03 0 0
CUI: C0744356
Disease: Abnormality of the genital system
Abnormality of the genital system 		36 0 1 1.2E-03 0 0
CUI: C0752122
Disease: Spinocerebellar Ataxia Type 4
Spinocerebellar Ataxia Type 4 		36 0 1 1.2E-03 0 0
CUI: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome Due To Mitochondrial Complex II Deficiency 		36 0 1 1.2E-03 0 0