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: C0008925
Disease: Cleft Palate
Cleft Palate 		611 0 17 2.8E-02 0 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 0 16 8.8E-03 0 0
CUI: C0025990
Disease: Micrognathism
Micrognathism 		586 0 15 2.5E-02 0 0
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		223 0 14 6.2E-02 0 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 0 14 1.5E-02 0 0
CUI: C0003578
Disease: Apnea
Apnea 		262 0 13 4.9E-02 0 0
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		241 0 13 5.3E-02 0 0
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 0 12 2.0E-02 0 0
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		95 0 12 0.12 0 0
CUI: C0013336
Disease: Dwarfism
Dwarfism 		1261 0 11 8.7E-03 0 0
CUI: C0152427
Disease: Polydactyly
Polydactyly 		188 0 11 5.6E-02 0 0
CUI: C0239234
Disease: Low set ears
Low set ears 		489 0 11 2.2E-02 0 0
CUI: C0349588
Disease: Short stature
Short stature 		1127 0 11 9.7E-03 0 0
CUI: C1861866
Disease: Aplasia/Hypoplasia of the corpus callosum
Aplasia/Hypoplasia of the corpus callosum 		108 0 11 9.6E-02 0 0
CUI: C1865060
Disease: Molar tooth sign on MRI
Molar tooth sign on MRI 		35 0 11 0.26 0 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		1010 0 11 1.1E-02 0 0
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		2165 0 11 5.1E-03 0 0
CUI: C0004134
Disease: Ataxia
Ataxia 		868 0 10 1.1E-02 0 0
CUI: C0028738
Disease: Nystagmus
Nystagmus 		833 0 10 1.2E-02 0 0
CUI: C0265610
Disease: Clinodactyly of fingers
Clinodactyly of fingers 		160 0 10 6.0E-02 0 0
CUI: C0345354
Disease: Radial polydactyly
Radial polydactyly 		51 0 10 0.17 0 0
CUI: C0431564
Disease: Lobulated tongue
Lobulated tongue 		14 0 10 0.45 0 0
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge 		180 0 10 5.3E-02 0 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		779 0 10 1.3E-02 0 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		779 0 10 1.3E-02 0 0