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: C0152421
Disease: Macrotia
Macrotia
188 18 42 0.13 3 4.3E-02
CUI: C0026034
Disease: Microstomia
Microstomia
172 0 39 0.13 0 0
CUI: C1861324
Disease: Short philtrum
Short philtrum
182 25 40 0.13 3 3.9E-02
CUI: C0578038
Disease: Thin lips
Thin lips
99 8 30 0.12 1 1.6E-02
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger
284 39 50 0.12 4 4.5E-02
CUI: C1843367
Disease: Poor school performance
Poor school performance
211 411 41 0.12 15 3.3E-02
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
439 617 61 0.11 2 3.0E-03
Delayed speech and language development
560 192 73 0.11 5 2.1E-02
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion
211 25 38 0.11 2 2.6E-02
CUI: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure
216 16 38 0.11 2 2.9E-02
CUI: C1837260
Disease: Prominent forehead
Prominent forehead
159 25 32 0.11 2 2.6E-02
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide
429 29 58 0.11 2 2.5E-02
CUI: C0038379
Disease: Strabismus
Strabismus
716 89 85 0.11 11 8.3E-02
CUI: C0221354
Disease: Frontal bossing
Frontal bossing
321 22 46 0.10 1 1.3E-02
CUI: C1835884
Disease: Triangular face
Triangular face
111 0 26 0.10 0 0
CUI: C1866195
Disease: Downturned corners of mouth
Downturned corners of mouth
122 14 27 0.10 2 3.0E-02
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge
180 8 32 0.10 2 3.3E-02
CUI: C1854882
Disease: Absent speech
Absent speech
232 72 36 9.8E-02 15 0.14
CUI: C0239676
Disease: High forehead
High forehead
211 17 34 9.8E-02 1 1.4E-02
CUI: C0025990
Disease: Micrognathism
Micrognathism
586 53 67 9.7E-02 3 2.9E-02
CUI: C1836047
Disease: Long face
Long face
182 0 31 9.6E-02 0 0
CUI: C0221356
Disease: Brachycephaly
Brachycephaly
186 0 31 9.5E-02 0 0
CUI: C1844505
Disease: Pointed chin
Pointed chin
71 13 21 9.5E-02 1 1.5E-02
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet
129 0 26 9.5E-02 0 0
CUI: C0240379
Disease: Open mouth (finding)
Open mouth (finding)
96 11 23 9.4E-02 1 1.6E-02