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: C1867114
Disease: Craniofacial disproportion
Craniofacial disproportion 		9 5 2 5.0E-03 3 8.3E-02
CUI: C3665346
Disease: Unspecified visual loss
Unspecified visual loss 		235 11 128 0.26 3 7.1E-02
CUI: C0410266
Disease: Contracture of hamstring(s)
Contracture of hamstring(s) 		6 2 2 5.0E-03 2 5.9E-02
CUI: C1850573
Disease: Slender build
Slender build 		31 2 3 7.1E-03 2 5.9E-02
CUI: C1865918
Disease: Restrictive external ophthalmoplegia
Restrictive external ophthalmoplegia 		3 2 1 2.5E-03 2 5.9E-02
CUI: C1868549
Disease: Marked delay in bone age
Marked delay in bone age 		3 2 1 2.5E-03 2 5.9E-02
CUI: C2674177
Disease: Areflexia of upper limbs
Areflexia of upper limbs 		2 2 1 2.5E-03 2 5.9E-02
CUI: C3203358
Disease: Hypoventilation
Hypoventilation 		28 2 4 9.6E-03 2 5.9E-02
CUI: C4023333
Disease: Abnormality of corneal thickness
Abnormality of corneal thickness 		1 2 1 2.5E-03 2 5.9E-02
CUI: C4023338
Disease: Profound sensorineural hearing impairment
Profound sensorineural hearing impairment 		10 2 2 5.0E-03 2 5.9E-02
CUI: C4476788
Disease: Decreased CSF 5-hydroxyindolacetic acid
Decreased CSF 5-hydroxyindolacetic acid 		2 2 1 2.5E-03 2 5.9E-02
CUI: C0029128
Disease: Optic Disk Drusen
Optic Disk Drusen 		6 3 3 7.6E-03 2 5.7E-02
CUI: C0231255
Disease: Decreased body mass index
Decreased body mass index 		3 3 1 2.5E-03 2 5.7E-02
CUI: C1839437
Disease: Chronic lactic acidosis
Chronic lactic acidosis 		4 3 1 2.5E-03 2 5.7E-02
CUI: C1840457
Disease: Retinal pigment epithelial atrophy
Retinal pigment epithelial atrophy 		25 4 17 4.2E-02 2 5.6E-02
CUI: C1849025
Disease: Oval face
Oval face 		14 4 2 4.9E-03 2 5.6E-02
CUI: C1854699
Disease: Diffuse cerebellar atrophy
Diffuse cerebellar atrophy 		17 4 2 4.9E-03 2 5.6E-02
CUI: C1855514
Disease: Severe failure to thrive
Severe failure to thrive 		14 4 2 4.9E-03 2 5.6E-02
CUI: C1855670
Disease: Abnormal cornea morphology
Abnormal cornea morphology 		9 4 1 2.5E-03 2 5.6E-02
CUI: C1856694
Disease: Areflexia of lower limbs
Areflexia of lower limbs 		24 4 2 4.8E-03 2 5.6E-02
CUI: C2609315
Disease: Retinal angiomatous proliferation
Retinal angiomatous proliferation 		12 4 6 1.5E-02 2 5.6E-02
CUI: C3808249
Disease: Abnormality of the optic disc
Abnormality of the optic disc 		26 4 19 4.8E-02 2 5.6E-02
CUI: C0239137
Disease: Coxa valga
Coxa valga 		68 5 6 1.3E-02 2 5.4E-02
CUI: C1390474
Disease: Increased susceptibility to fractures
Increased susceptibility to fractures 		42 5 6 1.4E-02 2 5.4E-02
CUI: C1857790
Disease: Thoracic scoliosis
Thoracic scoliosis 		23 5 3 7.3E-03 2 5.4E-02