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: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		186 65 66 0.15 4 3.8E-02
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		497 70 106 0.15 1 8.9E-03
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature 		86 6 53 0.15 2 4.3E-02
CUI: C3553764
Disease: Joint hyperflexibility
Joint hyperflexibility 		181 0 65 0.15 0 0
CUI: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias 		207 0 67 0.14 0 0
CUI: C0038379
Disease: Strabismus
Strabismus 		716 89 131 0.14 2 1.5E-02
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		295 0 78 0.14 0 0
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		305 0 79 0.14 0 0
CUI: C1865014
Disease: Long philtrum
Long philtrum 		282 16 76 0.14 3 5.4E-02
CUI: C1854114
Disease: Short nose
Short nose 		265 0 73 0.14 0 0
CUI: C0265610
Disease: Clinodactyly of fingers
Clinodactyly of fingers 		160 0 60 0.14 0 0
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		186 20 63 0.14 2 3.3E-02
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		367 0 85 0.14 0 0
CUI: C1837084
Disease: Short metacarpal
Short metacarpal 		66 7 48 0.14 2 4.2E-02
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		198 0 64 0.14 0 0
CUI: C0039075
Disease: Syndactyly
Syndactyly 		127 26 55 0.14 3 4.5E-02
CUI: C0152427
Disease: Polydactyly
Polydactyly 		188 0 62 0.14 0 0
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		850 135 140 0.14 3 1.7E-02
CUI: C0426790
Disease: Narrow thorax
Narrow thorax 		112 18 51 0.13 2 3.4E-02
CUI: C0265660
Disease: Syndactyly of the toes
Syndactyly of the toes 		129 0 52 0.13 0 0
CUI: C4551485
Disease: Clinodactyly
Clinodactyly 		148 18 54 0.13 2 3.4E-02
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		611 0 105 0.13 0 0
CUI: C1858085
Disease: Malar flattening
Malar flattening 		190 12 57 0.12 1 1.9E-02
CUI: C0239676
Disease: High forehead
High forehead 		211 17 59 0.12 1 1.7E-02
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		384 96 78 0.12 1 7.2E-03