Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
Progressive clavicular acroosteolysis
3 0 2 0.13 0 0
Aplasia/Hypoplastia of the eccrine sweat glands
3 0 2 0.13 0 0
Increased anterioposterior diameter of thorax
3 0 2 0.13 0 0
CUI: C1848773
Disease: Epidermal hyperkeratosis
Epidermal hyperkeratosis
3 0 2 0.13 0 0
CUI: C1866700
Disease: Irregular, rachitic-like metaphyses
Irregular, rachitic-like metaphyses
3 0 2 0.13 0 0
Weill-Marchesani Syndrome, Autosomal Recessive
3 0 2 0.13 0 0
Weill-Marchesani Syndrome, Autosomal Dominant
3 0 2 0.13 0 0
Arteriosclerosis of small cerebral arteries
3 0 2 0.13 0 0
CUI: C1859461
Disease: Femoral bowing
Femoral bowing
38 0 6 0.13 0 0
CUI: C0241237
Disease: Difficulty standing
Difficulty standing
21 0 4 0.13 0 0
CUI: C0266786
Disease: Short cord
Short cord
4 0 2 0.12 0 0
CUI: C0346169
Disease: Ovarian Cystadenoma
Ovarian Cystadenoma
4 0 2 0.12 0 0
Lethal tight skin contracture syndrome (disorder)
4 0 2 0.12 0 0
CUI: C0566693
Disease: Large placenta
Large placenta
4 0 2 0.12 0 0
CUI: C0575535
Disease: Thin clavicle
Thin clavicle
4 0 2 0.12 0 0
CUI: C1848769
Disease: Overtubulated long bones
Overtubulated long bones
4 0 2 0.12 0 0
CUI: C1848771
Disease: Prominent superficial blood vessels
Prominent superficial blood vessels
4 0 2 0.12 0 0
Osteolytic defects of the distal phalanges of the hand
4 0 2 0.12 0 0
Premature delivery because of cervical insufficiency or membrane fragility
4 0 2 0.12 0 0
CUI: C4021391
Disease: Broad phalanges of the hand
Broad phalanges of the hand
4 0 2 0.12 0 0
CUI: C4023402
Disease: Regional abnormality of skin
Regional abnormality of skin
4 0 2 0.12 0 0
Tapering pointed ends of distal finger phalanges
4 0 2 0.12 0 0
CUI: C4476724
Disease: Abnormal cellular phenotype
Abnormal cellular phenotype
4 0 2 0.12 0 0
CUI: C0265313
Disease: Weill-Marchesani syndrome
Weill-Marchesani syndrome
5 0 2 0.12 0 0
CUI: C0426811
Disease: Pseudoarthrosis of clavicle
Pseudoarthrosis of clavicle
5 0 2 0.12 0 0