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: C0018498
Disease: Hair Color
Hair Color 		130 0 1 1.5E-03 0 0
CUI: C0266483
Disease: Pachygyria
Pachygyria 		129 0 1 1.5E-03 0 0
CUI: C4551493
Disease: Situs inversus totalis
Situs inversus totalis 		104 0 1 1.6E-03 0 0
CUI: C4021786
Disease: Atypical scarring of skin
Atypical scarring of skin 		101 0 1 1.6E-03 0 0
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia 		100 0 1 1.6E-03 0 0
CUI: C1836543
Disease: Thick vermilion border
Thick vermilion border 		95 0 1 1.6E-03 0 0
CUI: C0431904
Disease: Ulnar polydactyly of fingers
Ulnar polydactyly of fingers 		92 0 1 1.6E-03 0 0
CUI: C0009080
Disease: Clubbed Fingers
Clubbed Fingers 		88 0 1 1.6E-03 0 0
CUI: C4024818
Disease: Progressive night blindness
Progressive night blindness 		87 0 1 1.6E-03 0 0
CUI: C0431371
Disease: Absence of septum pellucidum
Absence of septum pellucidum 		84 0 1 1.7E-03 0 0
CUI: C1853241
Disease: Flat face
Flat face 		83 0 1 1.7E-03 0 0
CUI: C0015310
Disease: Exotropia
Exotropia 		78 0 1 1.7E-03 0 0
CUI: C1301937
Disease: Talipes
Talipes 		74 0 1 1.7E-03 0 0
CUI: C4025819
Disease: Abnormality of the hypothalamus-pituitary axis
Abnormality of the hypothalamus-pituitary axis 		70 0 1 1.7E-03 0 0
CUI: C1842083
Disease: Abnormality of the ribs
Abnormality of the ribs 		69 0 1 1.7E-03 0 0
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome 		67 0 1 1.7E-03 0 0
CUI: C0035227
Disease: Respiratory Function Tests
Respiratory Function Tests 		67 0 1 1.7E-03 0 0
CUI: C1850456
Disease: Progressive microcephaly
Progressive microcephaly 		67 0 1 1.7E-03 0 0
CUI: C1847879
Disease: X-linked dominant inheritance
X-linked dominant inheritance 		65 0 1 1.7E-03 0 0
CUI: C0270960
Disease: Congenital myopathy (disorder)
Congenital myopathy (disorder) 		63 0 1 1.7E-03 0 0
CUI: C0158734
Disease: Polydactyly of toes
Polydactyly of toes 		61 0 1 1.7E-03 0 0
CUI: C0262404
Disease: Cerebellar degeneration
Cerebellar degeneration 		60 0 1 1.7E-03 0 0
CUI: C2364082
Disease: Sense of smell impaired
Sense of smell impaired 		60 0 1 1.7E-03 0 0
CUI: C0202177
Disease: Phospholipid measurement
Phospholipid measurement 		58 0 1 1.7E-03 0 0
CUI: C3553450
Disease: Profound global developmental delay
Profound global developmental delay 		58 0 1 1.7E-03 0 0