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: C4021815
Disease: Abnormal palate morphology
Abnormal palate morphology 		40 0 1 7.4E-04 0 0
CUI: C4024780
Disease: Almond-shaped palpebral fissure
Almond-shaped palpebral fissure 		40 0 1 7.4E-04 0 0
CUI: C0085615
Disease: Right bundle branch block
Right bundle branch block 		39 0 1 7.4E-04 0 0
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly 		39 0 1 7.4E-04 0 0
CUI: C1288283
Disease: Atrophoderma maculatum
Atrophoderma maculatum 		39 0 1 7.4E-04 0 0
CUI: C1844548
Disease: Hypoplastic finger
Hypoplastic finger 		39 0 1 7.4E-04 0 0
CUI: C1847515
Disease: Paroxysmal involuntary eye movements
Paroxysmal involuntary eye movements 		39 0 1 7.4E-04 0 0
CUI: C1849134
Disease: Impaired vibration sensation in the lower limbs
Impaired vibration sensation in the lower limbs 		39 0 1 7.4E-04 0 0
CUI: C0431368
Disease: Partial agenesis of corpus callosum
Partial agenesis of corpus callosum 		38 0 1 7.4E-04 0 0
CUI: C0236773
Disease: Depressed bipolar I disorder
Depressed bipolar I disorder 		37 0 1 7.4E-04 0 0
CUI: C0239594
Disease: Short finger
Short finger 		37 0 1 7.4E-04 0 0
CUI: C1837732
Disease: Thickened helices
Thickened helices 		37 0 1 7.4E-04 0 0
CUI: C1839603
Disease: Proximal tubulopathy
Proximal tubulopathy 		37 0 1 7.4E-04 0 0
CUI: C1849097
Disease: Loss of ability to walk
Loss of ability to walk 		37 0 1 7.4E-04 0 0
CUI: C4025844
Disease: Abnormal chorioretinal morphology
Abnormal chorioretinal morphology 		36 0 1 7.4E-04 0 0
CUI: C0241703
Disease: High pitched voice
High pitched voice 		35 0 1 7.5E-04 0 0
CUI: C0344559
Disease: Irido-corneo-trabecular dysgenesis (disorder)
Irido-corneo-trabecular dysgenesis (disorder) 		35 0 1 7.5E-04 0 0
CUI: C1839888
Disease: Decreased activity of the pyruvate dehydrogenase complex
Decreased activity of the pyruvate dehydrogenase complex 		35 0 1 7.5E-04 0 0
CUI: C1846151
Disease: Widened subarachnoid space
Widened subarachnoid space 		35 0 1 7.5E-04 0 0
CUI: C1849937
Disease: Disproportionate short-limb short stature
Disproportionate short-limb short stature 		35 0 1 7.5E-04 0 0
CUI: C0598275
Disease: Diffuse cerebral atrophy
Diffuse cerebral atrophy 		34 0 1 7.5E-04 0 0
CUI: C2751260
Disease: Macrothrombocytopenia
Macrothrombocytopenia 		34 0 1 7.5E-04 0 0
CUI: C4024664
Disease: Moderate sensorineural hearing impairment
Moderate sensorineural hearing impairment 		34 0 1 7.5E-04 0 0
CUI: C4551705
Disease: Abnormality of chromosome stability
Abnormality of chromosome stability 		34 0 1 7.5E-04 0 0
CUI: C0268630
Disease: Hyper-beta-alaninemia
Hyper-beta-alaninemia 		33 0 1 7.5E-04 0 0