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: C0426789
Disease: Short thorax
Short thorax 		51 8 6 3.8E-02 6 0.33
CUI: C1848862
Disease: Miller-McKusick-Malvaux-Syndrome (3M Syndrome)
Miller-McKusick-Malvaux-Syndrome (3M Syndrome) 		11 11 4 3.4E-02 6 0.29
CUI: C0221358
Disease: Long narrow head
Long narrow head 		154 26 19 7.7E-02 5 0.14
CUI: C0349588
Disease: Short stature
Short stature 		1127 292 84 7.3E-02 5 1.7E-02
CUI: C3553764
Disease: Joint hyperflexibility
Joint hyperflexibility 		181 12 33 0.13 5 0.22
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 77 58 9.0E-02 4 4.5E-02
CUI: C0024003
Disease: Lordosis
Lordosis 		160 15 15 5.9E-02 4 0.15
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 49 54 0.12 4 6.6E-02
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		295 14 40 0.11 4 0.15
CUI: C1844505
Disease: Pointed chin
Pointed chin 		71 13 15 9.0E-02 4 0.16
CUI: C1865014
Disease: Long philtrum
Long philtrum 		282 16 33 9.2E-02 4 0.14
CUI: C0025990
Disease: Micrognathism
Micrognathism 		586 53 69 0.11 3 4.5E-02
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 56 5.5E-02 3 5.1E-03
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		850 135 65 7.3E-02 3 2.0E-02
CUI: C0521525
Disease: Short neck
Short neck 		288 29 33 9.0E-02 3 7.1E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 74 4.0E-02 3 5.3E-03
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		41 56 4 2.7E-02 3 4.3E-02
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 164 46 4.5E-02 3 1.7E-02
CUI: C4020962
Disease: Enlarged thorax
Enlarged thorax 		25 4 18 0.15 3 0.18
CUI: C0014877
Disease: Esotropia
Esotropia 		121 39 6 2.7E-02 2 3.8E-02
CUI: C0029453
Disease: Osteopenia
Osteopenia 		845 61 30 3.2E-02 2 2.7E-02
CUI: C0038379
Disease: Strabismus
Strabismus 		716 89 51 6.6E-02 2 1.9E-02
CUI: C0151526
Disease: Premature Birth
Premature Birth 		192 50 19 6.7E-02 2 3.1E-02
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		321 22 40 0.10 2 5.6E-02
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		910 121 16 1.6E-02 2 1.5E-02