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: C1837761
Disease: Narrow nasal ridge
Narrow nasal ridge
11 0 5 0.31 0 0
CUI: C0042143
Disease: Uterine Rupture
Uterine Rupture
4 0 3 0.27 0 0
CUI: C0155676
Disease: Pulmonary artery aneurysm
Pulmonary artery aneurysm
4 0 3 0.27 0 0
Premature delivery because of cervical insufficiency or membrane fragility
4 0 3 0.27 0 0
CUI: C1856542
Disease: Prominent scalp veins
Prominent scalp veins
6 0 3 0.23 0 0
CUI: C0426433
Disease: Pinched nasal tip
Pinched nasal tip
2 0 2 0.20 0 0
CUI: C2931375
Disease: Temporomandibular ankylosis
Temporomandibular ankylosis
2 0 2 0.20 0 0
CUI: C3898580
Disease: Loeys-Dietz Syndrome Type 2
Loeys-Dietz Syndrome Type 2
2 0 2 0.20 0 0
Acroosteolysis of distal phalanges (feet)
2 0 2 0.20 0 0
CUI: C0270254
Disease: Hydrops of placenta
Hydrops of placenta
3 0 2 0.18 0 0
CUI: C0406586
Disease: Wiedemann-Rautenstrauch syndrome
Wiedemann-Rautenstrauch syndrome
3 0 2 0.18 0 0
Loss of truncal subcutaneous adipose tissue
3 0 2 0.18 0 0
Progressive clavicular acroosteolysis
3 0 2 0.18 0 0
Aplasia/Hypoplastia of the eccrine sweat glands
3 0 2 0.18 0 0
Increased anterioposterior diameter of thorax
3 0 2 0.18 0 0
CUI: C1848773
Disease: Epidermal hyperkeratosis
Epidermal hyperkeratosis
3 0 2 0.18 0 0
Arteriosclerosis of small cerebral arteries
3 0 2 0.18 0 0
CUI: C4749284
Disease: Familial bicuspid aortic valve
Familial bicuspid aortic valve
3 0 2 0.18 0 0
CUI: C0266786
Disease: Short cord
Short cord
4 0 2 0.17 0 0
Lethal tight skin contracture syndrome (disorder)
4 10 2 0.17 1 9.1E-02
CUI: C0566693
Disease: Large placenta
Large placenta
4 0 2 0.17 0 0
CUI: C0575535
Disease: Thin clavicle
Thin clavicle
4 0 2 0.17 0 0
CUI: C1836651
Disease: Generalized arterial tortuosity
Generalized arterial tortuosity
4 0 2 0.17 0 0
CUI: C1848769
Disease: Overtubulated long bones
Overtubulated long bones
4 0 2 0.17 0 0
CUI: C1848771
Disease: Prominent superficial blood vessels
Prominent superficial blood vessels
4 0 2 0.17 0 0