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: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 49 118 0.24 8 0.14
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear 		176 23 37 0.11 7 0.21
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 77 108 0.16 6 6.8E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 161 8.6E-02 6 1.1E-02
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		106 40 27 9.3E-02 6 0.12
CUI: C1837404
Disease: High, narrow palate
High, narrow palate 		129 21 31 0.10 5 0.15
CUI: C0036572
Disease: Seizures
Seizures 		2152 553 140 6.3E-02 4 7.1E-03
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		385 49 40 7.2E-02 4 6.5E-02
CUI: C1854114
Disease: Short nose
Short nose 		265 23 58 0.14 4 0.11
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 246 19 5.4E-02 4 1.5E-02
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		251 350 37 8.7E-02 3 8.2E-03
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		595 57 107 0.15 3 4.2E-02
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		285 44 30 6.4E-02 3 5.2E-02
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 125 0.12 3 5.1E-03
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		85 187 19 6.9E-02 3 1.5E-02
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		850 135 96 9.9E-02 3 2.0E-02
CUI: C0158731
Disease: Congenital pectus carinatum
Congenital pectus carinatum 		138 26 30 9.4E-02 3 7.5E-02
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		271 106 36 8.1E-02 3 2.5E-02
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 192 86 0.13 3 1.5E-02
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		28 82 16 7.2E-02 3 3.1E-02
CUI: C1827524
Disease: Wide spaced nipples
Wide spaced nipples 		96 19 27 9.6E-02 3 9.1E-02
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		426 39 90 0.16 3 5.7E-02
CUI: C1837770
Disease: Sparse hair
Sparse hair 		112 9 21 7.0E-02 3 0.13
CUI: C1844505
Disease: Pointed chin
Pointed chin 		71 13 19 7.2E-02 3 0.11
CUI: C4282407
Disease: Sparse and thin eyebrow
Sparse and thin eyebrow 		68 8 13 4.9E-02 3 0.14