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: C0266551
Disease: Congenital coloboma of iris
Congenital coloboma of iris
148 1 145 0.93 1 8.3E-02
CUI: C3540764
Disease: Coloboma of the Retina
Coloboma of the Retina
58 0 43 0.26 0 0
CUI: C0240896
Disease: Fundus coloboma
Fundus coloboma
57 0 42 0.25 0 0
CUI: C0266544
Disease: Microcornea
Microcornea
129 0 54 0.24 0 0
CUI: C0003119
Disease: Anophthalmos
Anophthalmos
89 0 43 0.22 0 0
CUI: C0026010
Disease: Microphthalmos
Microphthalmos
337 40 81 0.20 4 8.3E-02
Aplasia/Hypoplasia of the corpus callosum
108 0 43 0.20 0 0
Congenital ocular coloboma (disorder)
129 0 46 0.19 0 0
CUI: C0014065
Disease: Congenital cerebral hernia
Congenital cerebral hernia
93 0 39 0.19 0 0
CUI: C0158733
Disease: Hand polydactyly
Hand polydactyly
75 0 36 0.19 0 0
CUI: C0010964
Disease: Dandy-Walker Syndrome
Dandy-Walker Syndrome
137 0 44 0.18 0 0
CUI: C1854418
Disease: Biparietal narrowing
Biparietal narrowing
60 0 32 0.18 0 0
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia
100 26 37 0.17 2 5.6E-02
Abnormal form of the vertebral bodies
89 0 35 0.17 0 0
CUI: C1868571
Disease: Highly arched eyebrow
Highly arched eyebrow
141 0 41 0.16 0 0
Abnormality of the hypothalamus-pituitary axis
70 0 31 0.16 0 0
CUI: C0431362
Disease: Lobar Holoprosencephaly
Lobar Holoprosencephaly
37 0 26 0.16 0 0
CUI: C0158734
Disease: Polydactyly of toes
Polydactyly of toes
61 0 29 0.16 0 0
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis
95 0 33 0.15 0 0
CUI: C1865060
Disease: Molar tooth sign on MRI
Molar tooth sign on MRI
35 0 25 0.15 0 0
CUI: C0152427
Disease: Polydactyly
Polydactyly
188 0 45 0.15 0 0
CUI: C0266464
Disease: Polymicrogyria
Polymicrogyria
199 0 44 0.14 0 0
CUI: C3806218
Disease: Episodic tachypnea
Episodic tachypnea
31 0 23 0.14 0 0
CUI: C4551568
Disease: Joubert syndrome 1
Joubert syndrome 1
26 0 22 0.14 0 0
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly
109 0 32 0.14 0 0