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: C0239676
Disease: High forehead
High forehead 		211 17 90 0.16 3 5.7E-02
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		850 135 179 0.16 3 1.8E-02
CUI: C0239174
Disease: Late tooth eruption
Late tooth eruption 		139 0 79 0.16 0 0
CUI: C1837260
Disease: Prominent forehead
Prominent forehead 		159 25 81 0.16 4 6.7E-02
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		284 39 98 0.16 4 5.4E-02
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		439 617 119 0.16 4 6.1E-03
CUI: C1839739
Disease: Thick lower lip vermilion
Thick lower lip vermilion 		145 10 78 0.16 1 2.1E-02
CUI: C1858085
Disease: Malar flattening
Malar flattening 		190 0 84 0.16 0 0
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		186 65 83 0.16 3 3.0E-02
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		426 87 115 0.16 2 1.6E-02
CUI: C0848558
Disease: Hypospadias
Hypospadias 		366 0 106 0.15 0 0
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		595 57 136 0.15 5 5.5E-02
CUI: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias 		207 0 84 0.15 0 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 298 0.15 13 2.2E-02
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		295 0 95 0.15 0 0
CUI: C0020295
Disease: Hydronephrosis
Hydronephrosis 		253 18 89 0.15 3 5.6E-02
CUI: C1306503
Disease: Congenital exomphalos
Congenital exomphalos 		235 0 86 0.15 0 0
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		198 0 81 0.15 0 0
CUI: C0016202
Disease: Flatfoot
Flatfoot 		285 0 92 0.15 0 0
CUI: C0033377
Disease: Ptosis
Ptosis 		607 0 133 0.15 0 0
CUI: C0034194
Disease: Pyloric Stenosis
Pyloric Stenosis 		121 0 70 0.15 0 0
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		429 74 109 0.15 1 8.9E-03
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 164 176 0.15 11 5.7E-02
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		305 22 93 0.15 1 1.7E-02
CUI: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure 		216 16 81 0.14 1 1.9E-02