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: C1846460
Disease: Abnormality of the outer ear
Abnormality of the outer ear 		95 0 40 0.10 0 0
CUI: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure 		216 0 51 0.10 0 0
CUI: C0349588
Disease: Short stature
Short stature 		1127 292 135 0.10 4 1.2E-02
CUI: C0423112
Disease: Short palpebral fissure
Short palpebral fissure 		91 0 39 0.10 0 0
CUI: C0010038
Disease: Corneal Opacity
Corneal Opacity 		113 0 41 0.10 0 0
CUI: C4025819
Disease: Abnormality of the hypothalamus-pituitary axis
Abnormality of the hypothalamus-pituitary axis 		70 0 37 1.0E-01 0 0
CUI: C3279222
Disease: Aplasia/Hypoplasia of the cerebellum
Aplasia/Hypoplasia of the cerebellum 		116 0 41 1.0E-01 0 0
CUI: C0152427
Disease: Polydactyly
Polydactyly 		188 0 47 9.8E-02 0 0
CUI: C0013336
Disease: Dwarfism
Dwarfism 		1261 77 143 9.8E-02 2 1.7E-02
CUI: C0003857
Disease: Congenital arteriovenous malformation
Congenital arteriovenous malformation 		163 0 44 9.6E-02 0 0
CUI: C3164445
Disease: Abnormality of aortic valve
Abnormality of aortic valve 		50 0 34 9.6E-02 0 0
CUI: C1853235
Disease: Sclerocornea
Sclerocornea 		42 3 33 9.5E-02 1 2.4E-02
CUI: C3540764
Disease: Coloboma of the Retina
Coloboma of the Retina 		58 0 34 9.4E-02 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 112 9.4E-02 3 4.9E-03
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		1037 0 118 9.4E-02 0 0
CUI: C1857453
Disease: Renal hypoplasia/aplasia
Renal hypoplasia/aplasia 		73 0 35 9.3E-02 0 0
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		497 70 70 9.2E-02 2 1.9E-02
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 0 61 9.1E-02 0 0
CUI: C0240896
Disease: Fundus coloboma
Fundus coloboma 		57 0 33 9.1E-02 0 0
CUI: C1384666
Disease: hearing impairment
hearing impairment 		740 0 90 9.1E-02 0 0
CUI: C0266295
Disease: Congenital hypoplasia of kidney
Congenital hypoplasia of kidney 		96 0 36 9.1E-02 0 0
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		219 227 46 9.0E-02 2 7.5E-03
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		426 0 63 9.0E-02 0 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 178 9.0E-02 5 8.5E-03
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		1098 0 117 8.9E-02 0 0