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: C4025732
Disease: Tubulointerstitial abnormality
Tubulointerstitial abnormality 		23 0 22 0.14 0 0
CUI: C1837463
Disease: Narrow face
Narrow face 		87 0 30 0.14 0 0
CUI: C4551583
Disease: Cerebral cortical atrophy
Cerebral cortical atrophy 		271 0 52 0.14 0 0
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		295 0 54 0.14 0 0
CUI: C0010038
Disease: Corneal Opacity
Corneal Opacity 		113 0 32 0.14 0 0
CUI: C3279222
Disease: Aplasia/Hypoplasia of the cerebellum
Aplasia/Hypoplasia of the cerebellum 		116 0 32 0.14 0 0
CUI: C0266544
Disease: Microcornea
Microcornea 		129 0 33 0.13 0 0
CUI: C4022012
Disease: Death in early adulthood
Death in early adulthood 		46 0 23 0.13 0 0
CUI: C0152421
Disease: Macrotia
Macrotia 		188 18 39 0.13 2 9.1E-02
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		228 0 42 0.12 0 0
CUI: C0009024
Disease: Clonus
Clonus 		60 0 23 0.12 0 0
CUI: C0020438
Disease: Hypercalciuria
Hypercalciuria 		60 0 23 0.12 0 0
CUI: C1844505
Disease: Pointed chin
Pointed chin 		71 13 24 0.12 2 0.12
CUI: C0424448
Disease: Mask-like facies
Mask-like facies 		64 0 23 0.12 0 0
CUI: C3553764
Disease: Joint hyperflexibility
Joint hyperflexibility 		181 12 35 0.12 1 5.9E-02
CUI: C4024809
Disease: Chorioretinal dysplasia
Chorioretinal dysplasia 		21 0 18 0.12 0 0
CUI: C1865014
Disease: Long philtrum
Long philtrum 		282 16 45 0.12 1 4.8E-02
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		306 0 47 0.11 0 0
CUI: C4551488
Disease: Bifid uvula
Bifid uvula 		97 0 25 0.11 0 0
CUI: C0476403
Disease: Electromyogram abnormal
Electromyogram abnormal 		130 0 28 0.11 0 0
CUI: C0026034
Disease: Microstomia
Microstomia 		172 0 32 0.11 0 0
CUI: C3554617
Disease: Adducted thumb
Adducted thumb 		74 5 22 0.11 1 1.0E-01
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		272 36 41 0.11 1 2.4E-02
CUI: C0086437
Disease: Joint laxity
Joint laxity 		224 0 36 0.11 0 0
CUI: C0376480
Disease: Gingival Overgrowth
Gingival Overgrowth 		100 0 24 0.11 0 0