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: C0424711
Disease: Orbital separation diminished
Orbital separation diminished
89 0 1 1.9E-03 0 0
CUI: C0426421
Disease: Wide nose
Wide nose
87 0 1 1.9E-03 0 0
CUI: C1167918
Disease: Increased CSF lactate
Increased CSF lactate
87 0 1 1.9E-03 0 0
CUI: C4024818
Disease: Progressive night blindness
Progressive night blindness
87 0 1 1.9E-03 0 0
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies
86 0 1 1.9E-03 0 0
CUI: C0857379
Disease: Abnormality of the pinna
Abnormality of the pinna
85 0 1 1.9E-03 0 0
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis
83 0 1 1.9E-03 0 0
CUI: C2699541
Disease: Cytokine Measurement
Cytokine Measurement
82 0 1 1.9E-03 0 0
AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6
82 0 1 1.9E-03 0 0
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1
82 0 1 1.9E-03 0 0
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2
82 0 1 1.9E-03 0 0
CUI: C0241240
Disease: Tall stature
Tall stature
79 0 1 2.0E-03 0 0
CUI: C1834055
Disease: Underdeveloped nasal alae
Underdeveloped nasal alae
79 0 1 2.0E-03 0 0
CUI: C1839767
Disease: Tented upper lip vermilion
Tented upper lip vermilion
79 0 1 2.0E-03 0 0
CUI: C0424731
Disease: Single transverse palmar crease
Single transverse palmar crease
78 0 1 2.0E-03 0 0
CUI: C0456132
Disease: Large fontanelle
Large fontanelle
77 0 1 2.0E-03 0 0
CUI: C1838391
Disease: Limb hypertonia
Limb hypertonia
77 0 1 2.0E-03 0 0
CUI: C1839630
Disease: Severe muscular hypotonia
Severe muscular hypotonia
75 0 1 2.0E-03 0 0
CUI: C0265529
Disease: Plagiocephaly
Plagiocephaly
74 0 1 2.0E-03 0 0
CUI: C1301937
Disease: Talipes
Talipes
74 0 1 2.0E-03 0 0
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow
73 0 1 2.0E-03 0 0
CUI: C1445953
Disease: Poor eye contact
Poor eye contact
73 0 1 2.0E-03 0 0
CUI: C0521620
Disease: Dilatation of ureter
Dilatation of ureter
72 0 1 2.0E-03 0 0
CUI: C0034951
Disease: Refractive Errors
Refractive Errors
71 0 1 2.0E-03 0 0
CUI: C0343284
Disease: Chondrodysplasia
Chondrodysplasia
71 0 1 2.0E-03 0 0