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: C1142533
Disease: Smooth philtrum
Smooth philtrum 		105 10 26 0.15 2 0.12
CUI: C0266610
Disease: Preauricular dimple
Preauricular dimple 		40 0 16 0.13 0 0
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		284 39 43 0.13 1 2.2E-02
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		171 54 30 0.12 1 1.6E-02
CUI: C0575802
Disease: Small hand
Small hand 		108 0 22 0.12 0 0
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		325 43 43 0.11 1 2.0E-02
CUI: C4025252
Disease: Abnormal nasal morphology
Abnormal nasal morphology 		34 0 13 0.11 0 0
CUI: C1855728
Disease: Low posterior hairline
Low posterior hairline 		86 0 18 0.11 0 0
CUI: C1865014
Disease: Long philtrum
Long philtrum 		282 16 37 0.11 1 4.3E-02
CUI: C0239174
Disease: Late tooth eruption
Late tooth eruption 		139 0 23 0.11 0 0
CUI: C0221210
Disease: Congenital malrotation of intestine
Congenital malrotation of intestine 		77 0 17 0.11 0 0
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet 		129 0 22 0.11 0 0
CUI: C1868571
Disease: Highly arched eyebrow
Highly arched eyebrow 		141 14 23 0.11 2 1.0E-01
CUI: C0431447
Disease: Synophrys
Synophrys 		111 23 20 0.11 1 3.3E-02
CUI: C1866195
Disease: Downturned corners of mouth
Downturned corners of mouth 		122 0 21 0.10 0 0
CUI: C1849089
Disease: Broad forehead
Broad forehead 		133 13 22 0.10 1 5.0E-02
CUI: C1853487
Disease: Thick eyebrow
Thick eyebrow 		104 0 19 0.10 0 0
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		384 96 45 0.10 1 9.7E-03
CUI: C0521525
Disease: Short neck
Short neck 		288 29 36 0.10 1 2.8E-02
CUI: C0576226
Disease: Short foot
Short foot 		116 0 20 0.10 0 0
CUI: C1861869
Disease: Underdeveloped supraorbital ridges
Underdeveloped supraorbital ridges 		53 0 14 0.10 0 0
CUI: C1865572
Disease: Proximal placement of thumb
Proximal placement of thumb 		32 0 12 0.10 0 0
CUI: C0003492
Disease: Aortic coarctation
Aortic coarctation 		88 0 17 1.0E-01 0 0
CUI: C0424731
Disease: Single transverse palmar crease
Single transverse palmar crease 		78 0 16 9.9E-02 0 0
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion 		211 25 28 9.9E-02 1 3.1E-02