Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 30
1 0 1 1.00 0 0
CUI: C1866245
Disease: Hyperpigmented streaks
Hyperpigmented streaks
2 0 1 0.50 0 0
CUI: C4023440
Disease: Cleft earlobe
Cleft earlobe
3 0 1 0.33 0 0
CUI: C4024888
Disease: Asymmetric, linear skin defects
Asymmetric, linear skin defects
3 0 1 0.33 0 0
CUI: C0266210
Disease: Congenital anomaly of rectum
Congenital anomaly of rectum
4 0 1 0.25 0 0
CUI: C0235812
Disease: Vitritis
Vitritis
5 0 1 0.20 0 0
CUI: C0344511
Disease: Atresia of nasolacrimal duct
Atresia of nasolacrimal duct
5 0 1 0.20 0 0
CUI: C4551490
Disease: Ovotestis
Ovotestis
8 0 1 0.12 0 0
CUI: C4025360
Disease: Functional motor deficit
Functional motor deficit
10 0 1 1.0E-01 0 0
CUI: C0221182
Disease: Chordee
Chordee
11 0 1 9.1E-02 0 0
CUI: C1708371
Disease: Histiocytoid Cardiomyopathy
Histiocytoid Cardiomyopathy
12 3 1 8.3E-02 1 0.25
CUI: C0040962
Disease: Tricuspid Valve Prolapse
Tricuspid Valve Prolapse
13 0 1 7.7E-02 0 0
CUI: C0685776
Disease: Congenital absence of mandible
Congenital absence of mandible
14 0 1 7.1E-02 0 0
CUI: C4025329
Disease: Abnormality of the anus
Abnormality of the anus
16 0 1 6.2E-02 0 0
CUI: C4551511
Disease: X-linked sideroblastic anemia
X-linked sideroblastic anemia
16 0 1 6.2E-02 0 0
CUI: C0265886
Disease: Overriding aorta
Overriding aorta
17 0 1 5.9E-02 0 0
CUI: C0431384
Disease: Colpocephaly
Colpocephaly
17 0 1 5.9E-02 0 0
CUI: C4024809
Disease: Chorioretinal dysplasia
Chorioretinal dysplasia
21 0 1 4.8E-02 0 0
CUI: C0002896
Disease: Sideroblastic anemia
Sideroblastic anemia
22 0 1 4.5E-02 0 0
CUI: C0281842
Disease: Abnormality of the fallopian tube
Abnormality of the fallopian tube
22 0 1 4.5E-02 0 0
CUI: C1856409
Disease: Dilation of lateral ventricles
Dilation of lateral ventricles
23 0 1 4.3E-02 0 0
Abnormal nasolacrimal system morphology
23 0 1 4.3E-02 0 0
CUI: C0266361
Disease: True Hermaphroditism (disorder)
True Hermaphroditism (disorder)
27 0 1 3.7E-02 0 0
CUI: C0410916
Disease: Neonatal Death
Neonatal Death
27 0 1 3.7E-02 0 0
CUI: C0014588
Disease: Epispadias
Epispadias
30 0 1 3.3E-02 0 0