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: C4021792
Disease: Abnormality of the clavicle
Abnormality of the clavicle
42 0 1 8.2E-04 0 0
CUI: C1858127
Disease: Limb-girdle muscle weakness
Limb-girdle muscle weakness
41 0 1 8.2E-04 0 0
CUI: C0200695
Disease: Fetal hemoglobin determination
Fetal hemoglobin determination
40 0 1 8.2E-04 0 0
CUI: C4021735
Disease: Abnormality of the hip bone
Abnormality of the hip bone
40 0 1 8.2E-04 0 0
CUI: C1844548
Disease: Hypoplastic finger
Hypoplastic finger
39 0 1 8.2E-04 0 0
CUI: C2749675
Disease: Cortical gyral simplification
Cortical gyral simplification
39 0 1 8.2E-04 0 0
CUI: C3178805
Disease: Heterotaxy Syndrome
Heterotaxy Syndrome
39 0 1 8.2E-04 0 0
CUI: C0239399
Disease: Short extremities
Short extremities
38 0 1 8.2E-04 0 0
CUI: C0431368
Disease: Partial agenesis of corpus callosum
Partial agenesis of corpus callosum
38 0 1 8.2E-04 0 0
CUI: C0239594
Disease: Short finger
Short finger
37 0 1 8.2E-04 0 0
CUI: C0457334
Disease: Acute monoblastic leukemia
Acute monoblastic leukemia
37 0 1 8.2E-04 0 0
CUI: C0744356
Disease: Abnormality of the genital system
Abnormality of the genital system
36 0 1 8.2E-04 0 0
CUI: C1843496
Disease: Bilateral microphthalmos
Bilateral microphthalmos
35 0 1 8.2E-04 0 0
CUI: C0221365
Disease: Double ureter
Double ureter
34 0 1 8.2E-04 0 0
CUI: C4024923
Disease: Diffuse white matter abnormalities
Diffuse white matter abnormalities
34 0 1 8.2E-04 0 0
CUI: C0014067
Disease: Occipital Encephalocele
Occipital Encephalocele
33 9 1 8.2E-04 1 1.2E-03
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion
33 0 1 8.2E-04 0 0
CUI: C0013261
Disease: Duane Retraction Syndrome
Duane Retraction Syndrome
32 0 1 8.2E-04 0 0
CUI: C0151818
Disease: Opisthotonus
Opisthotonus
32 0 1 8.2E-04 0 0
CUI: C0268307
Disease: Conjugated hyperbilirubinemia
Conjugated hyperbilirubinemia
32 0 1 8.2E-04 0 0
Adult Desmoplastic Small Round Cell Tumor
32 0 1 8.2E-04 0 0
Childhood Desmoplastic Small Round Cell Tumor
32 0 1 8.2E-04 0 0
CUI: C4025616
Disease: CNS hypomyelination
CNS hypomyelination
32 0 1 8.2E-04 0 0
CUI: C0030436
Disease: Parakeratosis
Parakeratosis
31 0 1 8.2E-04 0 0
CUI: C0332878
Disease: Congenital contracture
Congenital contracture
31 0 1 8.2E-04 0 0