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: C0427144
Disease: Toe-walking gait
Toe-walking gait
50 0 1 1.2E-03 0 0
Increased variability in muscle fiber diameter
50 0 1 1.2E-03 0 0
CUI: C0220748
Disease: Cartilage-hair hypoplasia
Cartilage-hair hypoplasia
49 0 1 1.2E-03 0 0
CUI: C0032987
Disease: Ectopic Pregnancy
Ectopic Pregnancy
48 0 1 1.2E-03 0 0
CUI: C0271385
Disease: Horizontal Nystagmus
Horizontal Nystagmus
48 0 1 1.2E-03 0 0
CUI: C0730290
Disease: Cone Dystrophy
Cone Dystrophy
48 0 1 1.2E-03 0 0
CUI: C0001916
Disease: Albinism
Albinism
46 0 1 1.2E-03 0 0
CUI: C1136179
Disease: Hammer Toe
Hammer Toe
46 0 1 1.2E-03 0 0
CUI: C0008810
Disease: Circadian Rhythms
Circadian Rhythms
45 0 1 1.2E-03 0 0
CUI: C1849488
Disease: Increased serum pyruvate
Increased serum pyruvate
45 0 1 1.2E-03 0 0
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
42 0 1 1.2E-03 0 0
CUI: C0234860
Disease: Weak cry
Weak cry
42 0 1 1.2E-03 0 0
CUI: C0270790
Disease: Quadriparesis
Quadriparesis
42 0 1 1.2E-03 0 0
CUI: C0426818
Disease: Thin rib
Thin rib
42 0 1 1.2E-03 0 0
Adverse Event Associated with Cardiac Arrhythmia
42 0 1 1.2E-03 0 0
CUI: C0241816
Disease: Global brain atrophy
Global brain atrophy
41 0 1 1.2E-03 0 0
CUI: C1859470
Disease: Large basal ganglia
Large basal ganglia
41 0 1 1.2E-03 0 0
CUI: C0266610
Disease: Preauricular dimple
Preauricular dimple
40 0 1 1.2E-03 0 0
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
40 0 1 1.2E-03 0 0
Shortening of all distal phalanges of the fingers
40 0 1 1.2E-03 0 0
CUI: C0020256
Disease: Congenital Hydrocephalus
Congenital Hydrocephalus
39 0 1 1.2E-03 0 0
CUI: C0029489
Disease: Other alopecia
Other alopecia
39 0 1 1.2E-03 0 0
CUI: C0427063
Disease: Shoulder girdle weakness
Shoulder girdle weakness
39 0 1 1.2E-03 0 0
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
39 0 1 1.2E-03 0 0
CUI: C0524957
Disease: Corneal Topography
Corneal Topography
39 0 1 1.2E-03 0 0