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: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		47 0 1 1.0E-03 0 0
CUI: C0001916
Disease: Albinism
Albinism 		46 0 1 1.0E-03 0 0
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome 		46 0 1 1.0E-03 0 0
CUI: C0008810
Disease: Circadian Rhythms
Circadian Rhythms 		45 0 1 1.0E-03 0 0
CUI: C0497202
Disease: Abnormal ocular motility
Abnormal ocular motility 		45 0 1 1.0E-03 0 0
CUI: C1849488
Disease: Increased serum pyruvate
Increased serum pyruvate 		45 0 1 1.0E-03 0 0
CUI: C2673431
Disease: Abnormality of the periventricular white matter
Abnormality of the periventricular white matter 		45 0 1 1.0E-03 0 0
CUI: C0240421
Disease: Progressive muscle weakness
Progressive muscle weakness 		44 0 1 1.0E-03 0 0
CUI: C0427055
Disease: Facial Paresis
Facial Paresis 		44 0 1 1.0E-03 0 0
CUI: C0751093
Disease: Dystonia, Limb
Dystonia, Limb 		42 0 1 1.0E-03 0 0
CUI: C0270834
Disease: Complex partial seizure with impairment of consciousness
Complex partial seizure with impairment of consciousness 		41 0 1 1.0E-03 0 0
CUI: C0429097
Disease: QRS complex feature
QRS complex feature 		41 0 1 1.0E-03 0 0
CUI: C0581354
Disease: Recurrent sinusitis
Recurrent sinusitis 		41 0 1 1.0E-03 0 0
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		41 0 1 1.0E-03 0 0
CUI: C1858127
Disease: Limb-girdle muscle weakness
Limb-girdle muscle weakness 		41 0 1 1.0E-03 0 0
CUI: C3278975
Disease: Attenuation of retinal blood vessels
Attenuation of retinal blood vessels 		41 0 1 1.0E-03 0 0
CUI: C4021741
Disease: Abnormal cortical bone morphology
Abnormal cortical bone morphology 		41 0 1 1.0E-03 0 0
CUI: C4023687
Disease: EEG with multifocal slow activity
EEG with multifocal slow activity 		41 0 1 1.0E-03 0 0
CUI: C0266039
Disease: Taurodontism
Taurodontism 		40 0 1 1.0E-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 1.0E-03 0 0
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		40 0 1 1.0E-03 0 0
CUI: C1857656
Disease: Prematurely aged appearance
Prematurely aged appearance 		40 0 1 1.0E-03 0 0
CUI: C1956147
Disease: Microlissencephaly
Microlissencephaly 		40 0 1 1.0E-03 0 0
CUI: C4021608
Disease: Shortening of all distal phalanges of the fingers
Shortening of all distal phalanges of the fingers 		40 0 1 1.0E-03 0 0
CUI: C4021735
Disease: Abnormality of the hip bone
Abnormality of the hip bone 		40 0 1 1.0E-03 0 0