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: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 246 62 0.20 63 0.11
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		439 617 92 0.16 9 8.8E-03
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 192 101 0.15 49 8.8E-02
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion 		211 25 49 0.13 5 1.2E-02
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		251 350 52 0.13 3 4.0E-03
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 49 66 0.12 4 8.8E-03
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		429 74 70 0.12 3 6.2E-03
CUI: C1854882
Disease: Absent speech
Absent speech 		232 72 48 0.12 10 2.1E-02
CUI: C0152421
Disease: Macrotia
Macrotia 		188 18 43 0.12 5 1.2E-02
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		171 54 41 0.12 15 3.3E-02
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		251 94 49 0.12 2 4.0E-03
CUI: C1849265
Disease: Overgrowth
Overgrowth 		103 93 33 0.12 6 1.2E-02
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		535 0 77 0.12 0 0
CUI: C0038379
Disease: Strabismus
Strabismus 		716 89 94 0.11 18 3.7E-02
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		271 106 48 0.11 25 5.1E-02
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		362 247 57 0.11 13 2.0E-02
CUI: C0431447
Disease: Synophrys
Synophrys 		111 23 32 0.11 5 1.2E-02
CUI: C0001807
Disease: Aggressive behavior
Aggressive behavior 		176 22 38 0.11 5 1.2E-02
CUI: C0239234
Disease: Low set ears
Low set ears 		489 64 68 0.11 7 1.5E-02
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		261 78 45 0.11 18 3.8E-02
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 112 0.11 45 4.8E-02
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		284 39 47 0.10 10 2.3E-02
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		64 116 26 0.10 32 6.5E-02
CUI: C0037822
Disease: Speech Disorders
Speech Disorders 		183 7 37 0.10 2 4.8E-03
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		584 68 74 0.10 6 1.3E-02