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: C1865060
Disease: Molar tooth sign on MRI
Molar tooth sign on MRI
35 0 30 0.29 0 0
CUI: C3806218
Disease: Episodic tachypnea
Episodic tachypnea
31 0 29 0.28 0 0
CUI: C1854418
Disease: Biparietal narrowing
Biparietal narrowing
60 0 34 0.27 0 0
CUI: C0158734
Disease: Polydactyly of toes
Polydactyly of toes
60 0 33 0.26 0 0
CUI: C0158733
Disease: Hand polydactyly
Hand polydactyly
74 0 35 0.25 0 0
Aplasia/Hypoplasia of the corpus callosum
108 0 40 0.24 0 0
CUI: C0014065
Disease: Congenital cerebral hernia
Congenital cerebral hernia
74 0 31 0.22 0 0
CUI: C3489733
Disease: Oculomotor apraxia
Oculomotor apraxia
87 0 32 0.21 0 0
Abnormality of the hypothalamus-pituitary axis
70 0 29 0.21 0 0
CUI: C0271270
Disease: Oculovestibuloauditory syndrome
Oculovestibuloauditory syndrome
82 0 31 0.21 0 0
CUI: C1868571
Disease: Highly arched eyebrow
Highly arched eyebrow
141 0 41 0.20 0 0
CUI: C0266551
Disease: Congenital coloboma of iris
Congenital coloboma of iris
144 0 37 0.18 0 0
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis
32 175 20 0.18 4 2.0E-02
CUI: C0240063
Disease: Coloboma of iris
Coloboma of iris
146 11 37 0.18 2 5.7E-02
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge
180 0 42 0.18 0 0
CUI: C4021813
Disease: Oral cleft
Oral cleft
61 0 24 0.18 0 0
CUI: C0266464
Disease: Polymicrogyria
Polymicrogyria
166 19 37 0.16 1 2.3E-02
CUI: C0010964
Disease: Dandy-Walker Syndrome
Dandy-Walker Syndrome
111 8 29 0.16 3 9.7E-02
CUI: C4551493
Disease: Situs inversus totalis
Situs inversus totalis
95 0 26 0.15 0 0
CUI: C1836047
Disease: Long face
Long face
182 0 37 0.15 0 0
CUI: C0240896
Disease: Fundus coloboma
Fundus coloboma
53 0 20 0.15 0 0
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears
223 19 42 0.15 1 2.3E-02
CUI: C3540764
Disease: Coloboma of the Retina
Coloboma of the Retina
54 0 20 0.15 0 0
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum
216 33 41 0.15 4 7.3E-02
CUI: C0003578
Disease: Apnea
Apnea
172 0 35 0.15 0 0