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: C0232466
Disease: Feeding difficulties
Feeding difficulties 		473 0 119 0.15 0 0
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 49 104 0.14 1 1.0E-02
CUI: C0009806
Disease: Constipation
Constipation 		424 0 106 0.14 0 0
CUI: C0239676
Disease: High forehead
High forehead 		211 17 78 0.13 1 1.5E-02
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		842 0 152 0.13 0 0
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia 		312 0 88 0.13 0 0
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		595 0 118 0.13 0 0
CUI: C0033377
Disease: Ptosis
Ptosis 		607 0 119 0.13 0 0
CUI: C0235659
Disease: Reduced fetal movement
Reduced fetal movement 		169 0 69 0.13 0 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		1010 0 162 0.13 0 0
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		850 0 143 0.12 0 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 0 154 0.12 0 0
CUI: C0038379
Disease: Strabismus
Strabismus 		716 89 127 0.12 1 7.1E-03
CUI: C0025958
Disease: Microcephaly
Microcephaly 		1064 0 162 0.12 0 0
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		842 0 138 0.12 0 0
CUI: C0349588
Disease: Short stature
Short stature 		1127 292 168 0.12 2 5.8E-03
CUI: C0020608
Disease: Hypodontia
Hypodontia 		218 0 70 0.12 0 0
CUI: C0013336
Disease: Dwarfism
Dwarfism 		1261 0 179 0.12 0 0
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		389 0 87 0.12 0 0
CUI: C1836830
Disease: Developmental regression
Developmental regression 		333 0 80 0.11 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 145 0.11 1 1.6E-03
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 0 103 0.11 0 0
CUI: C1865014
Disease: Long philtrum
Long philtrum 		282 0 74 0.11 0 0
CUI: C0025990
Disease: Micrognathism
Micrognathism 		586 0 104 0.11 0 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 228 0.11 2 3.3E-03