Source: ALL
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: C1862095
Disease: Bilateral single transverse palmar creases
Bilateral single transverse palmar creases 		65 0 8 9.8E-02 0 0
CUI: C0555232
Disease: pseudohermaphrodite (non-specific)
pseudohermaphrodite (non-specific) 		9 0 3 9.7E-02 0 0
CUI: C1291316
Disease: Deficiency of reductase
Deficiency of reductase 		10 0 3 9.4E-02 0 0
CUI: C0235095
Disease: Visual field constriction
Visual field constriction 		57 0 7 9.3E-02 0 0
CUI: C1836940
Disease: Thickened nuchal skin fold
Thickened nuchal skin fold 		58 0 7 9.2E-02 0 0
CUI: C3553450
Disease: Profound global developmental delay
Profound global developmental delay 		58 0 7 9.2E-02 0 0
CUI: C1846821
Disease: Abnormality of coagulation
Abnormality of coagulation 		59 0 7 9.1E-02 0 0
CUI: C0156394
Disease: Hypertrophy of clitoris
Hypertrophy of clitoris 		63 0 7 8.6E-02 0 0
CUI: C0686346
Disease: Gender Dysphoria
Gender Dysphoria 		13 0 3 8.6E-02 0 0
CUI: C0751708
Disease: Peroxisomal Dysfunction, General
Peroxisomal Dysfunction, General 		2 0 2 8.0E-02 0 0
CUI: C0751709
Disease: Peroxisomal Dysfunction, Multiple
Peroxisomal Dysfunction, Multiple 		2 0 2 8.0E-02 0 0
CUI: C0751710
Disease: Peroxisomal Dysfunction, Single
Peroxisomal Dysfunction, Single 		2 0 2 8.0E-02 0 0
CUI: C4025679
Disease: Stippled chondral calcification
Stippled chondral calcification 		2 0 2 8.0E-02 0 0
CUI: C1866134
Disease: Wide anterior fontanel
Wide anterior fontanel 		71 0 7 7.9E-02 0 0
CUI: C0282526
Disease: Hyperpipecolic Acidemia
Hyperpipecolic Acidemia 		3 0 2 7.7E-02 0 0
CUI: C1856186
Disease: Deafness enamel hypoplasia nail defects
Deafness enamel hypoplasia nail defects 		3 0 2 7.7E-02 0 0
CUI: C1839630
Disease: Severe muscular hypotonia
Severe muscular hypotonia 		75 0 7 7.5E-02 0 0
CUI: C4021780
Disease: Abnormality of the liver
Abnormality of the liver 		75 0 7 7.5E-02 0 0
CUI: C1865877
Disease: Renal cortical microcysts
Renal cortical microcysts 		5 0 2 7.1E-02 0 0
CUI: C3280428
Disease: Alpha-Methylacyl-CoA Racemase Deficiency
Alpha-Methylacyl-CoA Racemase Deficiency 		5 0 2 7.1E-02 0 0
CUI: C0001403
Disease: Addison Disease
Addison Disease 		111 0 9 7.1E-02 0 0
CUI: C1856660
Disease: Abnormality of the helix
Abnormality of the helix 		21 0 3 7.0E-02 0 0
CUI: C1853241
Disease: Flat face
Flat face 		83 0 7 6.9E-02 0 0
CUI: C3549252
Disease: response to statin
response to statin 		6 0 2 6.9E-02 0 0
CUI: C4021611
Disease: Abnormality of epiphysis morphology
Abnormality of epiphysis morphology 		86 0 7 6.7E-02 0 0