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: C1849307
Disease: Increased density of long bones
Increased density of long bones 		1 0 1 1.00 0 0
CUI: C1849309
Disease: Wide distal femoral metaphysis
Wide distal femoral metaphysis 		1 0 1 1.00 0 0
CUI: C4015141
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 29
MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 		1 0 1 1.00 0 0
CUI: C4025189
Disease: Metopic suture patent to nasal root
Metopic suture patent to nasal root 		1 0 1 1.00 0 0
CUI: C1849305
Disease: Aplasia/Hypoplasia of the pubic bone
Aplasia/Hypoplasia of the pubic bone 		2 0 1 0.50 0 0
CUI: C0239272
Disease: Elbow stiff
Elbow stiff 		3 0 1 0.33 0 0
CUI: C1834386
Disease: Hypoplasia of first ribs
Hypoplasia of first ribs 		3 0 1 0.33 0 0
CUI: C1268964
Disease: Myelodysplastic syndrome, no ICD-O subtype
Myelodysplastic syndrome, no ICD-O subtype 		4 0 1 0.25 0 0
CUI: C0265227
Disease: Schinzel-Giedion syndrome
Schinzel-Giedion syndrome 		5 0 1 0.20 0 0
CUI: C1396772
Disease: Hypoplasia of the epiglottis
Hypoplasia of the epiglottis 		5 0 1 0.20 0 0
CUI: C1840418
Disease: Thickened cortex of long bones
Thickened cortex of long bones 		6 0 1 0.17 0 0
CUI: C3277940
Disease: Generalized hypertrichosis
Generalized hypertrichosis 		6 0 1 0.17 0 0
CUI: C0038165
Disease: Staphylococcal Scalded Skin Syndrome
Staphylococcal Scalded Skin Syndrome 		7 0 1 0.14 0 0
CUI: C0338597
Disease: Choroid plexus cyst
Choroid plexus cyst 		7 0 1 0.14 0 0
CUI: C0559459
Disease: Sacrococcygeal teratoma
Sacrococcygeal teratoma 		7 0 1 0.14 0 0
CUI: C4021535
Disease: Infantile sensorineural hearing impairment
Infantile sensorineural hearing impairment 		7 0 1 0.14 0 0
CUI: C1851714
Disease: Sclerosis of skull base
Sclerosis of skull base 		8 0 1 0.12 0 0
CUI: C0423807
Disease: Overcurvature of nail
Overcurvature of nail 		9 0 1 0.11 0 0
CUI: C0575497
Disease: Short sternum
Short sternum 		9 0 1 0.11 0 0
CUI: C1861443
Disease: Facial hemangioma
Facial hemangioma 		9 0 1 0.11 0 0
CUI: C0426808
Disease: Long clavicle
Long clavicle 		10 0 1 1.0E-01 0 0
CUI: C0521618
Disease: Stenosis of ureter
Stenosis of ureter 		10 0 1 1.0E-01 0 0
CUI: C1857500
Disease: Broad alveolar ridges
Broad alveolar ridges 		10 0 1 1.0E-01 0 0
CUI: C1865030
Disease: Hypoplastic pubic bone
Hypoplastic pubic bone 		10 0 1 1.0E-01 0 0
CUI: C4025750
Disease: Abnormality of the nasopharynx
Abnormality of the nasopharynx 		10 0 1 1.0E-01 0 0