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: C0014067
Disease: Occipital Encephalocele
Occipital Encephalocele 		0 9 0 0 1 2.3E-02
CUI: C0035085
Disease: Renal infarction
Renal infarction 		0 1 0 0 1 2.8E-02
CUI: C3495893
Disease: Congenital thrombophilia
Congenital thrombophilia 		0 1 0 0 1 2.8E-02
CUI: C3875381
Disease: Homozygous methylenetetrahydrofolate reductase mutation
Homozygous methylenetetrahydrofolate reductase mutation 		0 1 0 0 1 2.8E-02
CUI: C4733577
Disease: adult chronic myelogenous leukemia
adult chronic myelogenous leukemia 		0 3 0 0 1 2.6E-02
CUI: C1519383
Disease: Smoking Behaviors
Smoking Behaviors 		249 0 1 1.6E-03 0 0
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear 		176 0 1 1.8E-03 0 0
CUI: C3828530
Disease: Platelet Component Distribution Width Measurement
Platelet Component Distribution Width Measurement 		134 0 1 2.0E-03 0 0
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		123 0 1 2.0E-03 0 0
CUI: C0162701
Disease: Polysomnography
Polysomnography 		119 0 1 2.0E-03 0 0
CUI: C0476254
Disease: Dyslexia
Dyslexia 		118 0 1 2.0E-03 0 0
CUI: C3161330
Disease: Profound intellectual disabilities
Profound intellectual disabilities 		112 0 1 2.0E-03 0 0
CUI: C1835884
Disease: Triangular face
Triangular face 		111 0 1 2.0E-03 0 0
CUI: C4021759
Disease: Generalized myoclonic seizures
Generalized myoclonic seizures 		105 0 1 2.1E-03 0 0
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia 		100 0 1 2.1E-03 0 0
CUI: C0554970
Disease: Pallor of optic disc
Pallor of optic disc 		98 0 1 2.1E-03 0 0
CUI: C0085583
Disease: Choreoathetosis
Choreoathetosis 		94 0 1 2.1E-03 0 0
CUI: C0424621
Disease: Body Fat Distribution
Body Fat Distribution 		90 0 1 2.1E-03 0 0
CUI: C0424711
Disease: Orbital separation diminished
Orbital separation diminished 		89 0 1 2.1E-03 0 0
CUI: C1167918
Disease: Increased CSF lactate
Increased CSF lactate 		87 0 1 2.2E-03 0 0
CUI: C1837463
Disease: Narrow face
Narrow face 		87 0 1 2.2E-03 0 0
CUI: C4024818
Disease: Progressive night blindness
Progressive night blindness 		87 0 1 2.2E-03 0 0
CUI: C0431371
Disease: Absence of septum pellucidum
Absence of septum pellucidum 		84 0 1 2.2E-03 0 0
CUI: C1853738
Disease: Long eyelashes
Long eyelashes 		83 0 1 2.2E-03 0 0
CUI: C0231835
Disease: Tachypnea
Tachypnea 		82 0 1 2.2E-03 0 0