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: C0271007
Disease: Phthisis bulbi
Phthisis bulbi 		11 0 7 9.3E-02 0 0
CUI: C1142533
Disease: Smooth philtrum
Smooth philtrum 		105 0 15 9.3E-02 0 0
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet 		129 21 17 9.3E-02 2 5.6E-02
CUI: C0578038
Disease: Thin lips
Thin lips 		99 8 14 9.0E-02 1 4.2E-02
CUI: C4023915
Disease: Abnormally low-pitched voice
Abnormally low-pitched voice 		14 0 7 9.0E-02 0 0
CUI: C0221210
Disease: Congenital malrotation of intestine
Congenital malrotation of intestine 		77 0 12 8.8E-02 0 0
CUI: C0266617
Disease: Congenital anomaly of face
Congenital anomaly of face 		114 0 15 8.8E-02 0 0
CUI: C0042961
Disease: Intestinal Volvulus
Intestinal Volvulus 		42 0 9 8.7E-02 0 0
CUI: C1849311
Disease: Short 1st metacarpal
Short 1st metacarpal 		18 0 7 8.5E-02 0 0
CUI: C0575802
Disease: Small hand
Small hand 		108 31 14 8.5E-02 2 4.3E-02
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 246 18 8.5E-02 8 3.1E-02
CUI: C1865572
Disease: Proximal placement of thumb
Proximal placement of thumb 		32 0 8 8.4E-02 0 0
CUI: C0024433
Disease: Macrostomia
Macrostomia 		148 11 17 8.4E-02 3 0.12
CUI: C0432355
Disease: Hypoplasia of nipple
Hypoplasia of nipple 		33 0 8 8.3E-02 0 0
CUI: C3887496
Disease: Oligodactyly
Oligodactyly 		20 0 7 8.3E-02 0 0
CUI: C0277959
Disease: Coarse hair
Coarse hair 		60 4 10 8.3E-02 2 0.11
CUI: C0240310
Disease: Hypoplasia of the maxilla
Hypoplasia of the maxilla 		113 0 14 8.2E-02 0 0
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		284 39 27 8.2E-02 3 5.7E-02
CUI: C1301937
Disease: Talipes
Talipes 		74 0 11 8.2E-02 0 0
CUI: C4317146
Disease: Acid reflux
Acid reflux 		50 58 9 8.0E-02 3 4.2E-02
CUI: C0020555
Disease: Hypertrichosis
Hypertrichosis 		92 27 12 7.9E-02 3 7.3E-02
CUI: C1861869
Disease: Underdeveloped supraorbital ridges
Underdeveloped supraorbital ridges 		53 0 9 7.8E-02 0 0
CUI: C0158761
Disease: Radioulnar Synostosis
Radioulnar Synostosis 		67 0 10 7.8E-02 0 0
CUI: C0728895
Disease: Absent finger
Absent finger 		26 0 7 7.8E-02 0 0
CUI: C4021735
Disease: Abnormality of the hip bone
Abnormality of the hip bone 		40 3 8 7.8E-02 2 0.11