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 1.9E-02
CUI: C0035085
Disease: Renal infarction
Renal infarction 		0 1 0 0 1 2.2E-02
CUI: C0268275
Disease: Tay-Sachs Disease, AB Variant
Tay-Sachs Disease, AB Variant 		0 7 0 0 1 1.9E-02
CUI: C3875381
Disease: Homozygous methylenetetrahydrofolate reductase mutation
Homozygous methylenetetrahydrofolate reductase mutation 		0 1 0 0 1 2.2E-02
CUI: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis 		237 0 1 1.3E-03 0 0
CUI: C1857679
Disease: Sloping forehead
Sloping forehead 		149 0 1 1.4E-03 0 0
CUI: C0221629
Disease: Proximal muscle weakness
Proximal muscle weakness 		112 0 1 1.5E-03 0 0
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		104 0 1 1.5E-03 0 0
CUI: C4551493
Disease: Situs inversus totalis
Situs inversus totalis 		104 0 1 1.5E-03 0 0
CUI: C0554970
Disease: Pallor of optic disc
Pallor of optic disc 		98 0 1 1.5E-03 0 0
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		95 0 1 1.5E-03 0 0
CUI: C0431904
Disease: Ulnar polydactyly of fingers
Ulnar polydactyly of fingers 		92 0 1 1.6E-03 0 0
CUI: C0005845
Disease: Blood urea nitrogen measurement
Blood urea nitrogen measurement 		90 0 1 1.6E-03 0 0
CUI: C0424621
Disease: Body Fat Distribution
Body Fat Distribution 		90 0 1 1.6E-03 0 0
CUI: C0003119
Disease: Anophthalmos
Anophthalmos 		89 0 1 1.6E-03 0 0
CUI: C1167918
Disease: Increased CSF lactate
Increased CSF lactate 		87 0 1 1.6E-03 0 0
CUI: C0857379
Disease: Abnormality of the pinna
Abnormality of the pinna 		85 0 1 1.6E-03 0 0
CUI: C3806467
Disease: Respiratory insufficiency due to muscle weakness
Respiratory insufficiency due to muscle weakness 		85 0 1 1.6E-03 0 0
CUI: C0339526
Disease: Autosomal recessive retinitis pigmentosa
Autosomal recessive retinitis pigmentosa 		82 0 1 1.6E-03 0 0
CUI: C0856863
Disease: Broad-based gait
Broad-based gait 		75 0 1 1.6E-03 0 0
CUI: C3554617
Disease: Adducted thumb
Adducted thumb 		74 0 1 1.6E-03 0 0
CUI: C0240953
Disease: Winged scapula
Winged scapula 		73 0 1 1.6E-03 0 0
CUI: C1445953
Disease: Poor eye contact
Poor eye contact 		73 0 1 1.6E-03 0 0
CUI: C1844813
Disease: Widely spaced teeth
Widely spaced teeth 		71 0 1 1.6E-03 0 0
CUI: C0455829
Disease: Waist Circumference
Waist Circumference 		70 0 1 1.6E-03 0 0