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: C0554970
Disease: Pallor of optic disc
Pallor of optic disc 		98 0 1 6.8E-04 0 0
CUI: C0431904
Disease: Ulnar polydactyly of fingers
Ulnar polydactyly of fingers 		92 0 1 6.8E-04 0 0
CUI: C1445953
Disease: Poor eye contact
Poor eye contact 		73 0 1 6.9E-04 0 0
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome 		67 0 1 7.0E-04 0 0
CUI: C1855483
Disease: Progressive spastic paraplegia
Progressive spastic paraplegia 		59 0 1 7.0E-04 0 0
CUI: C0202177
Disease: Phospholipid measurement
Phospholipid measurement 		58 0 1 7.0E-04 0 0
CUI: C0431659
Disease: Hypoplasia of scrotum
Hypoplasia of scrotum 		57 0 1 7.0E-04 0 0
CUI: C1842688
Disease: Hypoplasia of the brainstem
Hypoplasia of the brainstem 		55 0 1 7.0E-04 0 0
CUI: C1839546
Disease: Microretrognathia
Microretrognathia 		53 0 1 7.0E-04 0 0
CUI: C1611184
Disease: Calcification of coronary artery
Calcification of coronary artery 		51 205 1 7.0E-04 1 4.5E-03
CUI: C0236970
Disease: Alcohol-Induced Disorders
Alcohol-Induced Disorders 		50 0 1 7.0E-04 0 0
CUI: C1842364
Disease: Central hypotonia
Central hypotonia 		50 0 1 7.0E-04 0 0
CUI: C0018520
Disease: Halitosis
Halitosis 		48 0 1 7.1E-04 0 0
CUI: C0730290
Disease: Cone Dystrophy
Cone Dystrophy 		48 0 1 7.1E-04 0 0
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		47 0 1 7.1E-04 0 0
CUI: C0001916
Disease: Albinism
Albinism 		46 0 1 7.1E-04 0 0
CUI: C0497202
Disease: Abnormal ocular motility
Abnormal ocular motility 		45 0 1 7.1E-04 0 0
CUI: C1849488
Disease: Increased serum pyruvate
Increased serum pyruvate 		45 0 1 7.1E-04 0 0
CUI: C0234860
Disease: Weak cry
Weak cry 		42 0 1 7.1E-04 0 0
CUI: C0162292
Disease: External Ophthalmoplegia
External Ophthalmoplegia 		41 0 1 7.1E-04 0 0
CUI: C0858600
Disease: Taste sweet
Taste sweet 		41 0 1 7.1E-04 0 0
CUI: C1858127
Disease: Limb-girdle muscle weakness
Limb-girdle muscle weakness 		41 0 1 7.1E-04 0 0
CUI: C3278975
Disease: Attenuation of retinal blood vessels
Attenuation of retinal blood vessels 		41 0 1 7.1E-04 0 0
CUI: C4021815
Disease: Abnormal palate morphology
Abnormal palate morphology 		40 0 1 7.1E-04 0 0
CUI: C0029489
Disease: Other alopecia
Other alopecia 		39 0 1 7.1E-04 0 0