Source: ALL
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: C0158761
Disease: Radioulnar Synostosis
Radioulnar Synostosis 		67 0 11 8.8E-02 0 0
CUI: C3494422
Disease: Retrognathia
Retrognathia 		191 0 21 8.8E-02 0 0
CUI: C1860243
Disease: Abnormal sternal ossification
Abnormal sternal ossification 		6 0 6 8.7E-02 0 0
CUI: C1860244
Disease: Malrotation of small bowel
Malrotation of small bowel 		7 0 6 8.6E-02 0 0
CUI: C1866134
Disease: Wide anterior fontanel
Wide anterior fontanel 		71 0 11 8.5E-02 0 0
CUI: C0796117
Disease: Pitt-Rogers-Danks Syndrome
Pitt-Rogers-Danks Syndrome 		8 0 6 8.5E-02 0 0
CUI: C1855728
Disease: Low posterior hairline
Low posterior hairline 		86 0 12 8.4E-02 0 0
CUI: C0241703
Disease: High pitched voice
High pitched voice 		35 0 8 8.3E-02 0 0
CUI: C1839858
Disease: Periventricular cysts
Periventricular cysts 		9 0 6 8.3E-02 0 0
CUI: C0020608
Disease: Hypodontia
Hypodontia 		218 0 22 8.3E-02 0 0
CUI: C0025990
Disease: Micrognathism
Micrognathism 		586 0 50 8.3E-02 0 0
CUI: C1328407
Disease: Hip Dysplasia
Hip Dysplasia 		128 0 15 8.2E-02 0 0
CUI: C0265341
Disease: Rieger syndrome
Rieger syndrome 		23 0 7 8.2E-02 0 0
CUI: C1442965
Disease: Avascular necrosis of the capital femoral epiphysis
Avascular necrosis of the capital femoral epiphysis 		23 0 7 8.2E-02 0 0
CUI: C1839326
Disease: Abnormal form of the vertebral bodies
Abnormal form of the vertebral bodies 		89 0 12 8.2E-02 0 0
CUI: C1861324
Disease: Short philtrum
Short philtrum 		182 25 19 8.2E-02 2 6.5E-02
CUI: C0423757
Disease: Thin skin
Thin skin 		77 0 11 8.1E-02 0 0
CUI: C1851792
Disease: Aplasia/Hypoplasia of the earlobes
Aplasia/Hypoplasia of the earlobes 		11 0 6 8.1E-02 0 0
CUI: C0342573
Disease: PITUITARY DWARFISM I
PITUITARY DWARFISM I 		25 0 7 8.0E-02 0 0
CUI: C0395837
Disease: Stenosis of external auditory canal
Stenosis of external auditory canal 		25 0 7 8.0E-02 0 0
CUI: C1968999
Disease: Rib segmentation abnormalities
Rib segmentation abnormalities 		12 0 6 8.0E-02 0 0
CUI: C0426807
Disease: Short clavicle
Short clavicle 		26 0 7 8.0E-02 0 0
CUI: C0426891
Disease: Broad thumbs
Broad thumbs 		67 11 10 7.9E-02 2 0.12
CUI: C1398312
Disease: Narrow palate
Narrow palate 		40 5 8 7.9E-02 1 8.3E-02
CUI: C4025579
Disease: Large beaked nose
Large beaked nose 		13 0 6 7.9E-02 0 0