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: C0221356
Disease: Brachycephaly
Brachycephaly 		186 20 41 0.10 1 2.7E-03
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		272 36 49 0.10 1 2.6E-03
CUI: C1853487
Disease: Thick eyebrow
Thick eyebrow 		104 0 33 0.10 0 0
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		850 135 102 0.10 1 2.1E-03
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		473 62 67 0.10 1 2.4E-03
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		325 43 53 0.10 1 2.6E-03
CUI: C1865014
Disease: Long philtrum
Long philtrum 		282 0 49 0.10 0 0
CUI: C1868571
Disease: Highly arched eyebrow
Highly arched eyebrow 		141 14 36 0.10 1 2.8E-03
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		584 68 76 0.10 3 7.2E-03
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		1010 0 114 9.9E-02 0 0
CUI: C0024433
Disease: Macrostomia
Macrostomia 		148 0 36 9.9E-02 0 0
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 192 73 9.9E-02 1 1.8E-03
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		384 0 57 9.9E-02 0 0
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		725 80 87 9.8E-02 3 7.0E-03
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		198 0 40 9.8E-02 0 0
CUI: C0349588
Disease: Short stature
Short stature 		1127 292 122 9.7E-02 7 1.1E-02
CUI: C0086437
Disease: Joint laxity
Joint laxity 		224 0 42 9.7E-02 0 0
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		611 158 76 9.7E-02 1 2.0E-03
CUI: C0008073
Disease: Developmental Disabilities
Developmental Disabilities 		355 0 53 9.6E-02 0 0
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities 		234 0 42 9.5E-02 0 0
CUI: C3553764
Disease: Joint hyperflexibility
Joint hyperflexibility 		181 0 37 9.4E-02 0 0
CUI: C0026034
Disease: Microstomia
Microstomia 		172 0 36 9.3E-02 0 0
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		385 49 54 9.3E-02 2 5.0E-03
CUI: C1849265
Disease: Overgrowth
Overgrowth 		103 93 30 9.3E-02 20 4.7E-02
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		429 74 57 9.1E-02 1 2.4E-03