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: C0341479
Disease: Infected pancreatic necrosis
Infected pancreatic necrosis 		0 2 0 0 2 0.12
CUI: C0476397
Disease: Electroretinogram abnormal
Electroretinogram abnormal 		158 0 1 1.3E-03 0 0
CUI: C0234632
Disease: Reduced visual acuity
Reduced visual acuity 		147 0 1 1.3E-03 0 0
CUI: C1839739
Disease: Thick lower lip vermilion
Thick lower lip vermilion 		145 0 1 1.3E-03 0 0
CUI: C0476403
Disease: Electromyogram abnormal
Electromyogram abnormal 		130 0 1 1.3E-03 0 0
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		130 0 1 1.3E-03 0 0
CUI: C0240543
Disease: Bulbous nose
Bulbous nose 		123 0 1 1.4E-03 0 0
CUI: C4021759
Disease: Generalized myoclonic seizures
Generalized myoclonic seizures 		105 0 1 1.4E-03 0 0
CUI: C0424574
Disease: Duration of sleep
Duration of sleep 		104 0 1 1.4E-03 0 0
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		104 0 1 1.4E-03 0 0
CUI: C4551493
Disease: Situs inversus totalis
Situs inversus totalis 		104 0 1 1.4E-03 0 0
CUI: C0554970
Disease: Pallor of optic disc
Pallor of optic disc 		98 0 1 1.4E-03 0 0
CUI: C0850703
Disease: Frequent falls
Frequent falls 		94 0 1 1.4E-03 0 0
CUI: C0431904
Disease: Ulnar polydactyly of fingers
Ulnar polydactyly of fingers 		92 0 1 1.4E-03 0 0
CUI: C0424621
Disease: Body Fat Distribution
Body Fat Distribution 		90 0 1 1.4E-03 0 0
CUI: C0424711
Disease: Orbital separation diminished
Orbital separation diminished 		89 0 1 1.4E-03 0 0
CUI: C4024818
Disease: Progressive night blindness
Progressive night blindness 		87 0 1 1.4E-03 0 0
CUI: C1847584
Disease: Distal sensory impairment
Distal sensory impairment 		86 0 1 1.4E-03 0 0
CUI: C0339526
Disease: Autosomal recessive retinitis pigmentosa
Autosomal recessive retinitis pigmentosa 		82 0 1 1.4E-03 0 0
CUI: C0948896
Disease: Primary hypogonadism
Primary hypogonadism 		80 0 1 1.4E-03 0 0
CUI: C1839767
Disease: Tented upper lip vermilion
Tented upper lip vermilion 		79 0 1 1.4E-03 0 0
CUI: C0424551
Disease: Impaired exercise tolerance
Impaired exercise tolerance 		76 0 1 1.4E-03 0 0
CUI: C1527366
Disease: Salaam Seizures
Salaam Seizures 		75 0 1 1.4E-03 0 0
CUI: C1445953
Disease: Poor eye contact
Poor eye contact 		73 0 1 1.5E-03 0 0
CUI: C1857453
Disease: Renal hypoplasia/aplasia
Renal hypoplasia/aplasia 		73 0 1 1.5E-03 0 0