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: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 0 67 0.11 0 0
CUI: C3553764
Disease: Joint hyperflexibility
Joint hyperflexibility 		181 12 46 0.11 2 3.7E-02
CUI: C0086437
Disease: Joint laxity
Joint laxity 		224 15 50 0.11 3 5.4E-02
CUI: C0162298
Disease: Joint stiffness
Joint stiffness 		163 0 44 0.11 0 0
CUI: C4551649
Disease: Congenital Dysplasia Of The Hip
Congenital Dysplasia Of The Hip 		147 0 42 0.11 0 0
CUI: C3494422
Disease: Retrognathia
Retrognathia 		191 0 45 0.10 0 0
CUI: C0349588
Disease: Short stature
Short stature 		1127 292 133 0.10 1 3.0E-03
CUI: C0265783
Disease: Congenital hypoplasia of lung
Congenital hypoplasia of lung 		175 6 43 0.10 1 2.0E-02
CUI: C0013336
Disease: Dwarfism
Dwarfism 		1261 0 144 0.10 0 0
CUI: C0038379
Disease: Strabismus
Strabismus 		716 0 92 0.10 0 0
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine 		305 0 54 0.10 0 0
CUI: C0848558
Disease: Hypospadias
Hypospadias 		366 80 59 1.0E-01 1 8.1E-03
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		223 0 46 1.0E-01 0 0
CUI: C0235659
Disease: Reduced fetal movement
Reduced fetal movement 		169 0 41 9.9E-02 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 113 9.9E-02 4 6.5E-03
CUI: C0016202
Disease: Flatfoot
Flatfoot 		285 38 51 9.8E-02 1 1.2E-02
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow 		73 0 32 9.8E-02 0 0
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		393 0 60 9.7E-02 0 0
CUI: C1306503
Disease: Congenital exomphalos
Congenital exomphalos 		235 0 46 9.7E-02 0 0
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		305 0 52 9.7E-02 0 0
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		272 0 49 9.6E-02 0 0
CUI: C1836047
Disease: Long face
Long face 		182 12 41 9.6E-02 2 3.7E-02
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		426 0 61 9.4E-02 0 0
CUI: C1854301
Disease: Motor delay
Motor delay 		384 0 57 9.3E-02 0 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 0 104 9.2E-02 0 0