Source: CLINVAR ×
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: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion 		18 25 5 5.0E-02 3 1.1E-02
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		18 22 5 5.0E-02 2 7.2E-03
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		63 92 7 4.9E-02 1 2.9E-03
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		303 505 18 4.8E-02 9 1.2E-02
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		43 49 6 4.8E-02 3 9.9E-03
CUI: C1842364
Disease: Central hypotonia
Central hypotonia 		23 25 5 4.7E-02 2 7.1E-03
CUI: C2673410
Disease: Small midface
Small midface 		23 24 5 4.7E-02 4 1.4E-02
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		46 66 6 4.7E-02 2 6.2E-03
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		25 28 5 4.6E-02 2 7.1E-03
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 411 13 4.5E-02 7 1.1E-02
CUI: C0349588
Disease: Short stature
Short stature 		190 292 12 4.5E-02 6 1.1E-02
CUI: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		28 34 5 4.5E-02 3 1.0E-02
CUI: C4072872
Disease: obsolete Rod-cone dystrophy
obsolete Rod-cone dystrophy 		28 41 5 4.5E-02 2 6.8E-03
CUI: C0399526
Disease: Class III malocclusion
Class III malocclusion 		5 5 4 4.5E-02 3 1.2E-02
CUI: C0423318
Disease: Heterochromia iridis
Heterochromia iridis 		7 10 4 4.4E-02 5 1.9E-02
CUI: C0042798
Disease: Low Vision
Low Vision 		32 41 5 4.3E-02 3 1.0E-02
CUI: C0013363
Disease: Dysautonomia
Dysautonomia 		9 9 4 4.3E-02 1 3.8E-03
CUI: C0024433
Disease: Macrostomia
Macrostomia 		10 11 4 4.3E-02 2 7.5E-03
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		37 41 5 4.2E-02 4 1.4E-02
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		37 39 5 4.2E-02 3 1.0E-02
CUI: C0231686
Disease: Gait, Unsteady
Gait, Unsteady 		13 14 4 4.1E-02 3 1.1E-02
CUI: C0020555
Disease: Hypertrichosis
Hypertrichosis 		14 22 4 4.1E-02 2 7.2E-03
CUI: C0401149
Disease: Chronic constipation
Chronic constipation 		14 15 4 4.1E-02 1 3.7E-03
CUI: C0423112
Disease: Short palpebral fissure
Short palpebral fissure 		15 16 4 4.0E-02 2 7.4E-03
CUI: C0456909
Disease: Blindness
Blindness 		15 0 4 4.0E-02 0 0