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: C0086437
Disease: Joint laxity
Joint laxity 		224 15 86 0.20 2 3.9E-02
CUI: C0025037
Disease: Meckel Diverticulum
Meckel Diverticulum 		63 0 55 0.19 0 0
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		850 135 168 0.17 7 4.2E-02
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		284 39 82 0.17 4 5.5E-02
CUI: C1865014
Disease: Long philtrum
Long philtrum 		282 16 81 0.17 1 1.9E-02
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 77 124 0.17 2 1.8E-02
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		497 70 110 0.16 5 4.9E-02
CUI: C2674432
Disease: Reduced bone mineral density
Reduced bone mineral density 		76 0 49 0.16 0 0
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 49 91 0.16 4 4.8E-02
CUI: C1853242
Disease: Midface retrusion
Midface retrusion 		228 0 69 0.16 0 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		426 0 92 0.15 0 0
CUI: C0019294
Disease: Hernia, Inguinal
Hernia, Inguinal 		225 21 64 0.14 1 1.7E-02
CUI: C1306503
Disease: Congenital exomphalos
Congenital exomphalos 		235 0 65 0.14 0 0
CUI: C3553764
Disease: Joint hyperflexibility
Joint hyperflexibility 		181 12 58 0.14 1 2.0E-02
CUI: C0426429
Disease: Broad nasal tip
Broad nasal tip 		125 8 51 0.14 1 2.2E-02
CUI: C0015469
Disease: Facial paralysis
Facial paralysis 		182 0 58 0.14 0 0
CUI: C0025990
Disease: Micrognathism
Micrognathism 		586 53 108 0.14 7 8.3E-02
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		417 0 87 0.14 0 0
CUI: C0239174
Disease: Late tooth eruption
Late tooth eruption 		139 4 52 0.14 1 2.4E-02
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		725 80 122 0.14 1 8.5E-03
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		321 0 73 0.14 0 0
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion 		211 25 59 0.14 1 1.6E-02
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		1010 0 154 0.13 0 0
CUI: C0038379
Disease: Strabismus
Strabismus 		716 89 119 0.13 4 3.3E-02
CUI: C1839739
Disease: Thick lower lip vermilion
Thick lower lip vermilion 		145 0 51 0.13 0 0