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: C1858085
Disease: Malar flattening
Malar flattening 		190 0 25 9.1E-02 0 0
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		106 40 18 9.0E-02 1 1.8E-02
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 77 58 9.0E-02 4 4.5E-02
CUI: C0521525
Disease: Short neck
Short neck 		288 29 33 9.0E-02 3 7.1E-02
CUI: C1844505
Disease: Pointed chin
Pointed chin 		71 13 15 9.0E-02 4 0.16
CUI: C1833144
Disease: Slender long bone
Slender long bone 		35 5 12 9.0E-02 2 0.11
CUI: C1849089
Disease: Broad forehead
Broad forehead 		133 13 20 8.9E-02 2 7.4E-02
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		272 0 31 8.8E-02 0 0
CUI: C0241074
Disease: Hyperextensible skin
Hyperextensible skin 		50 11 13 8.8E-02 1 3.8E-02
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion 		211 0 26 8.8E-02 0 0
CUI: C1837770
Disease: Sparse hair
Sparse hair 		112 0 18 8.8E-02 0 0
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		497 0 48 8.6E-02 0 0
CUI: C0015300
Disease: Exophthalmos
Exophthalmos 		225 0 26 8.4E-02 0 0
CUI: C0578038
Disease: Thin lips
Thin lips 		99 0 16 8.2E-02 0 0
CUI: C0221263
Disease: Cafe-au-Lait Spots
Cafe-au-Lait Spots 		74 32 14 8.2E-02 1 2.1E-02
CUI: C0024636
Disease: Malocclusion
Malocclusion 		128 10 18 8.1E-02 1 4.0E-02
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios 		208 28 24 8.1E-02 1 2.3E-02
CUI: C0086437
Disease: Joint laxity
Joint laxity 		224 0 25 8.1E-02 0 0
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		23 83 10 8.1E-02 1 1.0E-02
CUI: C0423112
Disease: Short palpebral fissure
Short palpebral fissure 		91 0 15 8.0E-02 0 0
CUI: C4024890
Disease: Excessive wrinkled skin
Excessive wrinkled skin 		25 0 10 7.9E-02 0 0
CUI: C4551485
Disease: Clinodactyly
Clinodactyly 		148 18 19 7.9E-02 1 3.0E-02
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		305 22 30 7.8E-02 1 2.7E-02
CUI: C0542514
Disease: Blue sclera
Blue sclera 		70 13 13 7.7E-02 2 7.4E-02
CUI: C0221358
Disease: Long narrow head
Long narrow head 		154 26 19 7.7E-02 5 0.14