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: C1839731
Disease: 11 pairs of ribs
11 pairs of ribs
20 0 1 9.7E-04 0 0
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly
85 0 8 7.3E-03 0 0
2nd-5th toe middle phalangeal hypoplasia
2 0 1 9.9E-04 0 0
CUI: C1837836
Disease: 4-5 toe syndactyly
4-5 toe syndactyly
4 0 1 9.8E-04 0 0
CUI: C2936420
Disease: 46, XX Gonadal Sex Reversal
46, XX Gonadal Sex Reversal
1 0 1 9.9E-04 0 0
46,XY Gonadal Dysgenesis, Complete or Partial, DHH-Related
1 0 1 9.9E-04 0 0
46,Xy Gonadal Dysgenesis, Partial, With Minifascicular Neuropathy
1 0 1 9.9E-04 0 0
CUI: C4015129
Disease: 46,XY SEX REVERSAL 9
46,XY SEX REVERSAL 9
2 0 1 9.9E-04 0 0
CUI: C0000731
Disease: Abdomen distended
Abdomen distended
103 0 6 5.4E-03 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain
231 0 15 1.2E-02 0 0
CUI: C4021527
Disease: Abdominal wall muscle weakness
Abdominal wall muscle weakness
9 0 1 9.8E-04 0 0
CUI: C4551519
Disease: Abducens Nerve Palsy
Abducens Nerve Palsy
8 0 1 9.8E-04 0 0
CUI: C1969516
Disease: Aberrant melanosome maturation
Aberrant melanosome maturation
1 0 1 9.9E-04 0 0
Abnormal aggressive, impulsive or violent behavior
2 0 1 9.9E-04 0 0
CUI: C4022916
Disease: Abnormal aldolase level
Abnormal aldolase level
16 0 1 9.7E-04 0 0
CUI: C0266781
Disease: Abnormal amniotic fluid
Abnormal amniotic fluid
8 0 1 9.8E-04 0 0
CUI: C4025756
Disease: Abnormal aortic morphology
Abnormal aortic morphology
29 0 3 2.9E-03 0 0
CUI: C0522216
Disease: Abnormal auditory evoked potential
Abnormal auditory evoked potential
11 0 1 9.8E-04 0 0
Abnormal axonemal organization of respiratory motile cilia
3 0 1 9.8E-04 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
97 0 6 5.4E-03 0 0
Abnormal best corrected visual acuity test
2 0 1 9.9E-04 0 0
CUI: C2132198
Disease: Abnormal blistering of the skin
Abnormal blistering of the skin
75 0 1 9.2E-04 0 0
CUI: C4025630
Disease: Abnormal bone structure
Abnormal bone structure
4 0 1 9.8E-04 0 0
Abnormal brain FDG positron emission tomography
18 0 2 1.9E-03 0 0
CUI: C4280765
Disease: Abnormal C-peptide level
Abnormal C-peptide level
14 0 2 1.9E-03 0 0