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: C0024689
Disease: Mandibular Diseases
Mandibular Diseases
2 0 1 0.50 0 0
CUI: C0426433
Disease: Pinched nasal tip
Pinched nasal tip
2 0 1 0.50 0 0
Decreased adipose tissue around neck
2 0 1 0.50 0 0
CUI: C2931375
Disease: Temporomandibular ankylosis
Temporomandibular ankylosis
2 0 1 0.50 0 0
CUI: C4021829
Disease: Narrow nail
Narrow nail
2 1 1 0.50 1 0.12
Acroosteolysis of distal phalanges (feet)
2 0 1 0.50 0 0
CUI: C0270254
Disease: Hydrops of placenta
Hydrops of placenta
3 0 1 0.33 0 0
Loss of truncal subcutaneous adipose tissue
3 0 1 0.33 0 0
Progressive clavicular acroosteolysis
3 0 1 0.33 0 0
Aplasia/Hypoplastia of the eccrine sweat glands
3 0 1 0.33 0 0
Increased anterioposterior diameter of thorax
3 0 1 0.33 0 0
CUI: C1848773
Disease: Epidermal hyperkeratosis
Epidermal hyperkeratosis
3 0 1 0.33 0 0
Arteriosclerosis of small cerebral arteries
3 0 1 0.33 0 0
CUI: C0266786
Disease: Short cord
Short cord
4 0 1 0.25 0 0
Lethal tight skin contracture syndrome (disorder)
4 10 1 0.25 1 5.9E-02
CUI: C0566693
Disease: Large placenta
Large placenta
4 0 1 0.25 0 0
CUI: C0575535
Disease: Thin clavicle
Thin clavicle
4 0 1 0.25 0 0
CUI: C1848769
Disease: Overtubulated long bones
Overtubulated long bones
4 0 1 0.25 0 0
CUI: C1848771
Disease: Prominent superficial blood vessels
Prominent superficial blood vessels
4 0 1 0.25 0 0
Osteolytic defects of the distal phalanges of the hand
4 0 1 0.25 0 0
Premature delivery because of cervical insufficiency or membrane fragility
4 0 1 0.25 0 0
CUI: C4023402
Disease: Regional abnormality of skin
Regional abnormality of skin
4 0 1 0.25 0 0
Tapering pointed ends of distal finger phalanges
4 0 1 0.25 0 0
CUI: C4476724
Disease: Abnormal cellular phenotype
Abnormal cellular phenotype
4 0 1 0.25 0 0
CUI: C0426811
Disease: Pseudoarthrosis of clavicle
Pseudoarthrosis of clavicle
5 0 1 0.20 0 0