Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
50 0 1 2.5E-03 0 0
CUI: C0240479
Disease: Neck muscle weakness
Neck muscle weakness
49 0 1 2.5E-03 0 0
CUI: C0431890
Disease: Hypoplasia of thumb
Hypoplasia of thumb
49 0 1 2.5E-03 0 0
CUI: C0730362
Disease: Disorder of macula of retina
Disorder of macula of retina
49 0 1 2.5E-03 0 0
CUI: C2237660
Disease: exudative macular degeneration
exudative macular degeneration
49 0 1 2.5E-03 0 0
CUI: C0018520
Disease: Halitosis
Halitosis
48 0 1 2.6E-03 0 0
CUI: C0032987
Disease: Ectopic Pregnancy
Ectopic Pregnancy
48 0 1 2.6E-03 0 0
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia
48 0 1 2.6E-03 0 0
CUI: C0270972
Disease: Cornelia De Lange Syndrome
Cornelia De Lange Syndrome
48 0 1 2.6E-03 0 0
CUI: C0271385
Disease: Horizontal Nystagmus
Horizontal Nystagmus
48 0 1 2.6E-03 0 0
CUI: C0581342
Disease: Redundant skin
Redundant skin
48 0 1 2.6E-03 0 0
CUI: C0730290
Disease: Cone Dystrophy
Cone Dystrophy
48 0 1 2.6E-03 0 0
CUI: C0752123
Disease: Spinocerebellar Ataxia Type 5
Spinocerebellar Ataxia Type 5
48 0 1 2.6E-03 0 0
CUI: C4025821
Disease: Anterior hypopituitarism
Anterior hypopituitarism
48 0 1 2.6E-03 0 0
CUI: C0520739
Disease: Hereditary pyropoikilocytosis
Hereditary pyropoikilocytosis
47 0 1 2.6E-03 0 0
CUI: C0344530
Disease: Congenital keratoglobus
Congenital keratoglobus
46 0 1 2.6E-03 0 0
CUI: C1136179
Disease: Hammer Toe
Hammer Toe
46 0 1 2.6E-03 0 0
CUI: C1843057
Disease: Calf muscle hypertrophy
Calf muscle hypertrophy
46 0 1 2.6E-03 0 0
Focal T2 hyperintense basal ganglia lesion
46 0 1 2.6E-03 0 0
Intellectual disability, progressive
45 0 1 2.6E-03 0 0
CUI: C1849488
Disease: Increased serum pyruvate
Increased serum pyruvate
45 0 1 2.6E-03 0 0
CUI: C2112129
Disease: Postaxial foot polydactyly
Postaxial foot polydactyly
45 0 1 2.6E-03 0 0
CUI: C0240421
Disease: Progressive muscle weakness
Progressive muscle weakness
44 0 1 2.6E-03 0 0
CUI: C0410189
Disease: Muscular Dystrophy, Emery-Dreifuss
Muscular Dystrophy, Emery-Dreifuss
44 0 1 2.6E-03 0 0
CUI: C0427055
Disease: Facial Paresis
Facial Paresis
44 0 1 2.6E-03 0 0