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: C1868571
Disease: Highly arched eyebrow
Highly arched eyebrow 		141 14 62 0.24 3 0.16
CUI: C1836047
Disease: Long face
Long face 		182 12 68 0.23 1 5.3E-02
CUI: C0158734
Disease: Polydactyly of toes
Polydactyly of toes 		61 0 44 0.22 0 0
CUI: C0158733
Disease: Hand polydactyly
Hand polydactyly 		75 0 45 0.21 0 0
CUI: C1854418
Disease: Biparietal narrowing
Biparietal narrowing 		60 0 38 0.19 0 0
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		223 19 63 0.19 1 3.8E-02
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia 		100 0 42 0.18 0 0
CUI: C1861866
Disease: Aplasia/Hypoplasia of the corpus callosum
Aplasia/Hypoplasia of the corpus callosum 		108 0 42 0.17 0 0
CUI: C0431904
Disease: Ulnar polydactyly of fingers
Ulnar polydactyly of fingers 		92 0 38 0.16 0 0
CUI: C3489733
Disease: Oculomotor apraxia
Oculomotor apraxia 		92 0 38 0.16 0 0
CUI: C1865060
Disease: Molar tooth sign on MRI
Molar tooth sign on MRI 		35 0 30 0.16 0 0
CUI: C0271270
Disease: Oculovestibuloauditory syndrome
Oculovestibuloauditory syndrome 		87 0 37 0.16 0 0
CUI: C3806218
Disease: Episodic tachypnea
Episodic tachypnea 		31 0 29 0.16 0 0
CUI: C0521525
Disease: Short neck
Short neck 		288 0 64 0.16 0 0
CUI: C0152427
Disease: Polydactyly
Polydactyly 		188 0 50 0.16 0 0
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		95 0 37 0.16 0 0
CUI: C3714581
Disease: Multicystic Dysplastic Kidney
Multicystic Dysplastic Kidney 		121 0 40 0.15 0 0
CUI: C1861324
Disease: Short philtrum
Short philtrum 		182 25 48 0.15 3 1.0E-01
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 49 73 0.15 2 3.6E-02
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		305 22 62 0.15 1 3.4E-02
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		241 0 53 0.14 0 0
CUI: C0239234
Disease: Low set ears
Low set ears 		489 64 83 0.14 2 2.9E-02
CUI: C0240543
Disease: Bulbous nose
Bulbous nose 		123 0 37 0.14 0 0
CUI: C0014065
Disease: Congenital cerebral hernia
Congenital cerebral hernia 		93 0 33 0.14 0 0
CUI: C0025990
Disease: Micrognathism
Micrognathism 		586 53 91 0.13 1 1.7E-02