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: C0521525
Disease: Short neck
Short neck 		288 29 110 0.18 2 3.5E-02
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		305 22 111 0.18 2 4.0E-02
CUI: C0025958
Disease: Microcephaly
Microcephaly 		1064 0 226 0.18 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 210 0.18 6 1.0E-02
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		384 96 121 0.18 2 1.6E-02
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		439 0 129 0.18 0 0
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		611 0 154 0.18 0 0
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		426 0 126 0.18 0 0
CUI: C1861324
Disease: Short philtrum
Short philtrum 		182 0 87 0.17 0 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 318 0.17 18 3.2E-02
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		325 43 105 0.16 1 1.4E-02
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 164 194 0.16 3 1.6E-02
CUI: C0020295
Disease: Hydronephrosis
Hydronephrosis 		253 18 92 0.16 1 2.1E-02
CUI: C0221358
Disease: Long narrow head
Long narrow head 		154 26 77 0.16 2 3.7E-02
CUI: C3553764
Disease: Joint hyperflexibility
Joint hyperflexibility 		181 0 80 0.15 0 0
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		272 36 91 0.15 1 1.5E-02
CUI: C0019294
Disease: Hernia, Inguinal
Hernia, Inguinal 		225 0 84 0.15 0 0
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		427 32 108 0.15 2 3.3E-02
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		779 0 152 0.15 0 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		779 0 152 0.15 0 0
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		410 0 105 0.15 0 0
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear 		176 23 75 0.14 1 1.9E-02
CUI: C0266589
Disease: Congenital ear anomaly NOS (disorder)
Congenital ear anomaly NOS (disorder) 		137 0 70 0.14 0 0
CUI: C0265610
Disease: Clinodactyly of fingers
Clinodactyly of fingers 		160 0 72 0.14 0 0
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		194 0 76 0.14 0 0