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: C1859231
Disease: Hypoplastic olfactory lobes
Hypoplastic olfactory lobes
1 0 1 0.50 0 0
CUI: C4023692
Disease: Ridged cranial sutures
Ridged cranial sutures
1 0 1 0.50 0 0
CUI: C4551980
Disease: HEIMLER SYNDROME 1
HEIMLER SYNDROME 1
1 0 1 0.50 0 0
CUI: C1856779
Disease: Widely patent sagittal suture
Widely patent sagittal suture
2 0 1 0.33 0 0
Hypomineralized amelogenesis imperfecta
2 0 1 0.33 0 0
Cystoid macular retinal degeneration
3 0 1 0.25 0 0
Deafness enamel hypoplasia nail defects
3 0 1 0.25 0 0
CUI: C1859235
Disease: Intrahepatic biliary dysgenesis
Intrahepatic biliary dysgenesis
3 0 1 0.25 0 0
CUI: C1836742
Disease: Absent brainstem auditory responses
Absent brainstem auditory responses
4 0 1 0.20 0 0
CUI: C1833431
Disease: Subependymal cysts
Subependymal cysts
5 0 1 0.17 0 0
CUI: C1865877
Disease: Renal cortical microcysts
Renal cortical microcysts
5 0 1 0.17 0 0
CUI: C3550234
Disease: PEROXISOME BIOGENESIS DISORDER 2B
PEROXISOME BIOGENESIS DISORDER 2B
5 0 1 0.17 0 0
CUI: C3550693
Disease: PEROXISOME BIOGENESIS DISORDER 3B
PEROXISOME BIOGENESIS DISORDER 3B
5 0 1 0.17 0 0
CUI: C4072867
Disease: obsolete Peripheral retinopathy
obsolete Peripheral retinopathy
5 0 1 0.17 0 0
CUI: C4687396
Disease: Zellweger Spectrum Disorder
Zellweger Spectrum Disorder
6 0 1 0.14 0 0
CUI: C4020960
Disease: Abnormality of nail color
Abnormality of nail color
8 0 1 0.11 0 0
CUI: C0240182
Disease: Leukonychia
Leukonychia
9 0 1 1.0E-01 0 0
CUI: C0271386
Disease: Vertical Nystagmus
Vertical Nystagmus
9 0 1 1.0E-01 0 0
CUI: C1857484
Disease: Brachyturricephaly
Brachyturricephaly
9 0 1 1.0E-01 0 0
CUI: C4551633
Disease: Pigmentary retinal dystrophy
Pigmentary retinal dystrophy
9 0 1 1.0E-01 0 0
CUI: C0042111
Disease: Urticaria Pigmentosa
Urticaria Pigmentosa
10 0 1 9.1E-02 0 0
CUI: C4021803
Disease: Abnormal eyelid morphology
Abnormal eyelid morphology
10 0 1 9.1E-02 0 0
CUI: C4072908
Disease: Induced vaginal delivery
Induced vaginal delivery
10 0 1 9.1E-02 0 0
CUI: C4023808
Disease: Hyperextensibility at elbow
Hyperextensibility at elbow
11 0 1 8.3E-02 0 0
Ulnar deviation of the hand or of fingers of the hand
11 0 1 8.3E-02 0 0