Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
Hereditary Connective Tissue Disorder
9 0 1 9.1E-02 0 0
CUI: C4021774
Disease: Camptodactyly of toe
Camptodactyly of toe
9 0 1 9.1E-02 0 0
CUI: C0042781
Disease: Visceral Myopathy
Visceral Myopathy
10 0 1 8.3E-02 0 0
CUI: C4021959
Disease: Round ear
Round ear
10 0 1 8.3E-02 0 0
Ulnar deviation of the hand or of fingers of the hand
11 0 1 7.7E-02 0 0
CUI: C0861876
Disease: Recurrent Hepatocellular Carcinoma
Recurrent Hepatocellular Carcinoma
12 0 1 7.1E-02 0 0
CUI: C1860450
Disease: Calcaneovalgus deformity
Calcaneovalgus deformity
12 0 1 7.1E-02 0 0
Early severe fetal akinesia sequence
12 0 1 7.1E-02 0 0
CUI: C0234362
Disease: Synkinesis
Synkinesis
13 0 1 6.7E-02 0 0
Congenital Fibrosis of the Extraocular Muscles
13 0 1 6.7E-02 0 0
CUI: C1856118
Disease: Prominent nasal tip
Prominent nasal tip
13 0 1 6.7E-02 0 0
CUI: C0231678
Disease: Ulnar deviation of the wrist
Ulnar deviation of the wrist
14 0 1 6.2E-02 0 0
CUI: C0267792
Disease: Hepatobiliary disease
Hepatobiliary disease
14 0 1 6.2E-02 0 0
CUI: C0586358
Disease: Biliary Intraepithelial Neoplasia
Biliary Intraepithelial Neoplasia
14 0 1 6.2E-02 0 0
CUI: C1860247
Disease: Prominent glabella
Prominent glabella
14 0 1 6.2E-02 0 0
ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA
15 0 3 0.20 0 0
CUI: C0238669
Disease: Aortic root dilatation
Aortic root dilatation
15 0 1 5.9E-02 0 0
CUI: C0409345
Disease: Flexion contracture - wrist
Flexion contracture - wrist
15 0 1 5.9E-02 0 0
CUI: C1516490
Disease: Cholangiolocellular Carcinoma
Cholangiolocellular Carcinoma
16 0 1 5.6E-02 0 0
Prieto X-linked mental retardation syndrome
16 0 1 5.6E-02 0 0
CUI: C1857304
Disease: Flexion contracture of finger
Flexion contracture of finger
17 0 1 5.3E-02 0 0
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome
20 0 1 4.5E-02 0 0
CUI: C0749379
Disease: Thoracolumbar scoliosis
Thoracolumbar scoliosis
20 0 1 4.5E-02 0 0
CUI: C0265213
Disease: Distal arthrogryposis syndrome
Distal arthrogryposis syndrome
22 0 3 0.14 0 0
CUI: C0265654
Disease: Tarsal Coalition
Tarsal Coalition
22 0 1 4.2E-02 0 0