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: C1861324
Disease: Short philtrum
Short philtrum 		182 25 32 9.8E-02 4 9.1E-02
CUI: C0158731
Disease: Congenital pectus carinatum
Congenital pectus carinatum 		138 26 28 9.8E-02 2 4.3E-02
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		295 14 42 9.8E-02 1 2.8E-02
CUI: C1142533
Disease: Smooth philtrum
Smooth philtrum 		105 10 25 9.8E-02 1 3.1E-02
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		611 0 69 9.6E-02 0 0
CUI: C0015300
Disease: Exophthalmos
Exophthalmos 		225 12 35 9.6E-02 1 2.9E-02
CUI: C1839739
Disease: Thick lower lip vermilion
Thick lower lip vermilion 		145 0 28 9.6E-02 0 0
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		321 0 43 9.5E-02 0 0
CUI: C0024433
Disease: Macrostomia
Macrostomia 		148 11 28 9.5E-02 1 3.0E-02
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		384 96 48 9.4E-02 2 1.7E-02
CUI: C1855285
Disease: Protruding ear
Protruding ear 		152 0 28 9.3E-02 0 0
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		106 40 24 9.3E-02 5 8.6E-02
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		325 0 42 9.2E-02 0 0
CUI: C1835884
Disease: Triangular face
Triangular face 		111 16 24 9.1E-02 1 2.6E-02
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios 		208 28 32 9.1E-02 1 2.0E-02
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		305 22 40 9.1E-02 3 7.1E-02
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		426 87 50 9.1E-02 3 2.8E-02
CUI: C0010038
Disease: Corneal Opacity
Corneal Opacity 		113 0 24 9.1E-02 0 0
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		595 57 64 9.1E-02 1 1.3E-02
CUI: C0221217
Disease: Neck webbing
Neck webbing 		78 19 21 9.0E-02 1 2.4E-02
CUI: C0266464
Disease: Polymicrogyria
Polymicrogyria 		199 0 31 9.0E-02 0 0
CUI: C0423112
Disease: Short palpebral fissure
Short palpebral fissure 		91 16 22 9.0E-02 2 5.4E-02
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia 		226 0 33 8.9E-02 0 0
CUI: C1868571
Disease: Highly arched eyebrow
Highly arched eyebrow 		141 14 26 8.9E-02 2 5.7E-02
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		850 135 84 8.9E-02 4 2.6E-02