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: C0271183
Disease: Severe myopia
Severe myopia 		184 116 107 0.19 31 0.12
CUI: C0038379
Disease: Strabismus
Strabismus 		716 89 155 0.15 8 3.2E-02
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		850 135 149 0.13 11 3.8E-02
CUI: C0086543
Disease: Cataract
Cataract 		878 124 148 0.12 4 1.4E-02
CUI: C0028738
Disease: Nystagmus
Nystagmus 		833 95 143 0.12 5 1.9E-02
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		779 0 134 0.12 0 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		779 0 134 0.12 0 0
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		429 29 96 0.12 2 1.0E-02
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 77 111 0.11 2 8.3E-03
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 148 0.11 9 1.2E-02
CUI: C0025990
Disease: Micrognathism
Micrognathism 		586 53 107 0.11 4 1.9E-02
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		417 30 89 0.11 2 1.0E-02
CUI: C0004106
Disease: Astigmatism
Astigmatism 		148 45 62 0.11 6 2.9E-02
CUI: C0239234
Disease: Low set ears
Low set ears 		489 64 95 0.11 2 8.7E-03
CUI: C0017601
Disease: Glaucoma
Glaucoma 		770 0 119 0.10 0 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		1010 0 141 0.10 0 0
CUI: C3553764
Disease: Joint hyperflexibility
Joint hyperflexibility 		181 0 63 0.10 0 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		426 39 86 0.10 2 9.8E-03
CUI: C0086437
Disease: Joint laxity
Joint laxity 		224 15 67 0.10 1 5.5E-03
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		284 39 72 0.10 2 9.8E-03
CUI: C0349588
Disease: Short stature
Short stature 		1127 292 149 0.10 8 1.8E-02
CUI: C0266544
Disease: Microcornea
Microcornea 		129 0 57 0.10 0 0
CUI: C1865014
Disease: Long philtrum
Long philtrum 		282 0 70 1.0E-01 0 0
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		725 0 110 1.0E-01 0 0
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		439 617 84 9.9E-02 1 1.3E-03