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: C0015300
Disease: Exophthalmos
Exophthalmos 		225 12 22 7.6E-02 1 5.0E-02
CUI: C1837260
Disease: Prominent forehead
Prominent forehead 		159 25 17 7.5E-02 1 3.0E-02
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 49 33 7.4E-02 5 9.4E-02
CUI: C1859778
Disease: Postnatal growth retardation
Postnatal growth retardation 		121 0 14 7.3E-02 0 0
CUI: C0010964
Disease: Dandy-Walker Syndrome
Dandy-Walker Syndrome 		137 0 15 7.2E-02 0 0
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		271 106 24 7.2E-02 1 8.8E-03
CUI: C1860243
Disease: Abnormal sternal ossification
Abnormal sternal ossification 		6 0 6 7.1E-02 0 0
CUI: C0264303
Disease: Laryngomalacia
Laryngomalacia 		67 0 10 7.0E-02 0 0
CUI: C0025990
Disease: Micrognathism
Micrognathism 		586 0 44 7.0E-02 0 0
CUI: C0265695
Disease: Congenital fusion of ribs
Congenital fusion of ribs 		37 0 8 7.0E-02 0 0
CUI: C1858085
Disease: Malar flattening
Malar flattening 		190 12 18 7.0E-02 1 5.0E-02
CUI: C1860244
Disease: Malrotation of small bowel
Malrotation of small bowel 		7 0 6 7.0E-02 0 0
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 77 44 7.0E-02 2 2.4E-02
CUI: C0265341
Disease: Rieger syndrome
Rieger syndrome 		23 0 7 6.9E-02 0 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		426 39 33 6.9E-02 4 9.1E-02
CUI: C0796117
Disease: Pitt-Rogers-Danks Syndrome
Pitt-Rogers-Danks Syndrome 		8 0 6 6.9E-02 0 0
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly 		102 0 12 6.9E-02 0 0
CUI: C1842366
Disease: Low anterior hairline
Low anterior hairline 		71 17 10 6.8E-02 1 4.0E-02
CUI: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		181 0 17 6.8E-02 0 0
CUI: C1839858
Disease: Periventricular cysts
Periventricular cysts 		9 0 6 6.8E-02 0 0
CUI: C1860253
Disease: Pseudoepiphyses of the metacarpals
Pseudoepiphyses of the metacarpals 		9 0 6 6.8E-02 0 0
CUI: C0038271
Disease: Stereotyped Behavior
Stereotyped Behavior 		135 0 14 6.8E-02 0 0
CUI: C0019572
Disease: Hirsutism
Hirsutism 		88 0 11 6.8E-02 0 0
CUI: C0409348
Disease: Flexion contracture of proximal interphalangeal joint
Flexion contracture of proximal interphalangeal joint 		168 0 16 6.8E-02 0 0
CUI: C1854882
Disease: Absent speech
Absent speech 		232 0 20 6.7E-02 0 0