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: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		426 0 57 0.10 0 0
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		223 0 38 0.10 0 0
CUI: C0025958
Disease: Microcephaly
Microcephaly 		1064 0 115 0.10 0 0
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		194 0 35 0.10 0 0
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		427 0 56 0.10 0 0
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 192 68 1.0E-01 3 1.4E-02
CUI: C0239676
Disease: High forehead
High forehead 		211 0 36 9.9E-02 0 0
CUI: C1839739
Disease: Thick lower lip vermilion
Thick lower lip vermilion 		145 0 30 9.9E-02 0 0
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		725 80 82 9.9E-02 2 2.1E-02
CUI: C0086437
Disease: Joint laxity
Joint laxity 		224 0 37 9.9E-02 0 0
CUI: C3553764
Disease: Joint hyperflexibility
Joint hyperflexibility 		181 0 33 9.8E-02 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 103 9.8E-02 2 3.4E-03
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		295 0 43 9.8E-02 0 0
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		410 0 53 9.7E-02 0 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		1010 0 105 9.6E-02 0 0
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		429 29 54 9.6E-02 1 2.2E-02
CUI: C0431447
Disease: Synophrys
Synophrys 		111 0 26 9.5E-02 0 0
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		367 0 48 9.5E-02 0 0
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		384 96 49 9.4E-02 5 4.6E-02
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		186 20 32 9.4E-02 1 2.7E-02
CUI: C0349588
Disease: Short stature
Short stature 		1127 292 112 9.3E-02 5 1.6E-02
CUI: C1844813
Disease: Widely spaced teeth
Widely spaced teeth 		71 0 22 9.3E-02 0 0
CUI: C0016202
Disease: Flatfoot
Flatfoot 		285 0 40 9.2E-02 0 0
CUI: C0409348
Disease: Flexion contracture of proximal interphalangeal joint
Flexion contracture of proximal interphalangeal joint 		168 0 30 9.2E-02 0 0
CUI: C3554617
Disease: Adducted thumb
Adducted thumb 		74 0 22 9.2E-02 0 0