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: C0334328
Disease: Microfollicular adenoma
Microfollicular adenoma 		0 1 0 0 1 3.5E-03
CUI: C0339526
Disease: Autosomal recessive retinitis pigmentosa
Autosomal recessive retinitis pigmentosa 		82 0 1 1.3E-03 0 0
CUI: C0241726
Disease: Delayed ability to walk
Delayed ability to walk 		77 0 1 1.3E-03 0 0
CUI: C1838391
Disease: Limb hypertonia
Limb hypertonia 		77 0 1 1.3E-03 0 0
CUI: C0037771
Disease: Paraparesis, Spastic
Paraparesis, Spastic 		75 0 1 1.3E-03 0 0
CUI: C1527366
Disease: Salaam Seizures
Salaam Seizures 		75 0 1 1.3E-03 0 0
CUI: C1445953
Disease: Poor eye contact
Poor eye contact 		73 0 1 1.3E-03 0 0
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome 		67 0 1 1.4E-03 0 0
CUI: C0016506
Disease: Foot Deformities
Foot Deformities 		66 0 1 1.4E-03 0 0
CUI: C0919677
Disease: Protein C measurement
Protein C measurement 		62 0 1 1.4E-03 0 0
CUI: C1168438
Disease: Protein C antigen measurement
Protein C antigen measurement 		62 0 1 1.4E-03 0 0
CUI: C1847514
Disease: Postnatal microcephaly
Postnatal microcephaly 		62 0 1 1.4E-03 0 0
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		59 0 1 1.4E-03 0 0
CUI: C0232744
Disease: Decreased liver function
Decreased liver function 		59 0 1 1.4E-03 0 0
CUI: C1859236
Disease: Prolonged neonatal jaundice
Prolonged neonatal jaundice 		59 0 1 1.4E-03 0 0
CUI: C3275417
Disease: Ragged-red muscle fibers
Ragged-red muscle fibers 		59 0 1 1.4E-03 0 0
CUI: C3553450
Disease: Profound global developmental delay
Profound global developmental delay 		58 0 1 1.4E-03 0 0
CUI: C0235095
Disease: Visual field constriction
Visual field constriction 		57 0 1 1.4E-03 0 0
CUI: C0431659
Disease: Hypoplasia of scrotum
Hypoplasia of scrotum 		57 0 1 1.4E-03 0 0
CUI: C1842688
Disease: Hypoplasia of the brainstem
Hypoplasia of the brainstem 		55 0 1 1.4E-03 0 0
CUI: C0177804
Disease: Bone Mineral Density Test
Bone Mineral Density Test 		54 0 1 1.4E-03 0 0
CUI: C0234182
Disease: Gowers sign
Gowers sign 		54 0 1 1.4E-03 0 0
CUI: C1278049
Disease: Serum gamma-glutamyl transferase measurement
Serum gamma-glutamyl transferase measurement 		54 0 1 1.4E-03 0 0
CUI: C0027888
Disease: Hereditary Motor and Sensory Neuropathies
Hereditary Motor and Sensory Neuropathies 		53 0 1 1.4E-03 0 0
CUI: C0337443
Disease: Sodium measurement
Sodium measurement 		53 0 1 1.4E-03 0 0