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: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge 		180 8 68 0.23 1 5.3E-02
CUI: C1854418
Disease: Biparietal narrowing
Biparietal narrowing 		60 0 44 0.22 0 0
CUI: C0158733
Disease: Hand polydactyly
Hand polydactyly 		75 0 44 0.21 0 0
CUI: C0158734
Disease: Polydactyly of toes
Polydactyly of toes 		61 0 41 0.20 0 0
CUI: C1861866
Disease: Aplasia/Hypoplasia of the corpus callosum
Aplasia/Hypoplasia of the corpus callosum 		108 0 47 0.19 0 0
CUI: C1868571
Disease: Highly arched eyebrow
Highly arched eyebrow 		141 14 49 0.18 2 8.3E-02
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		305 0 71 0.17 0 0
CUI: C1837463
Disease: Narrow face
Narrow face 		87 6 39 0.17 3 0.20
CUI: C0239234
Disease: Low set ears
Low set ears 		489 64 97 0.17 2 2.7E-02
CUI: C1865060
Disease: Molar tooth sign on MRI
Molar tooth sign on MRI 		35 0 30 0.16 0 0
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		497 70 93 0.16 4 5.1E-02
CUI: C3806218
Disease: Episodic tachypnea
Episodic tachypnea 		31 0 29 0.16 0 0
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia 		100 0 37 0.15 0 0
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		595 57 100 0.15 2 3.0E-02
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios 		208 0 50 0.15 0 0
CUI: C0566620
Disease: Nasal voice
Nasal voice 		93 0 35 0.15 0 0
CUI: C0033377
Disease: Ptosis
Ptosis 		607 0 97 0.14 0 0
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		95 0 34 0.14 0 0
CUI: C3489733
Disease: Oculomotor apraxia
Oculomotor apraxia 		92 0 33 0.14 0 0
CUI: C0271270
Disease: Oculovestibuloauditory syndrome
Oculovestibuloauditory syndrome 		87 0 32 0.14 0 0
CUI: C0025990
Disease: Micrognathism
Micrognathism 		586 53 90 0.13 1 1.6E-02
CUI: C1865014
Disease: Long philtrum
Long philtrum 		282 16 54 0.13 1 3.7E-02
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 77 87 0.13 3 3.5E-02
CUI: C4025819
Disease: Abnormality of the hypothalamus-pituitary axis
Abnormality of the hypothalamus-pituitary axis 		70 0 28 0.12 0 0
CUI: C0086437
Disease: Joint laxity
Joint laxity 		224 15 45 0.12 1 3.8E-02