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: C0270972
Disease: Cornelia De Lange Syndrome
Cornelia De Lange Syndrome 		48 0 16 0.14 0 0
CUI: C1836940
Disease: Thickened nuchal skin fold
Thickened nuchal skin fold 		58 0 17 0.13 0 0
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		272 36 42 0.13 1 2.2E-02
CUI: C0024236
Disease: Lymphedema
Lymphedema 		61 0 17 0.13 0 0
CUI: C0238397
Disease: Pulmonary artery stenosis
Pulmonary artery stenosis 		36 0 14 0.13 0 0
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		106 40 22 0.13 1 2.0E-02
CUI: C0265695
Disease: Congenital fusion of ribs
Congenital fusion of ribs 		37 2 14 0.13 1 8.3E-02
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		295 0 43 0.13 0 0
CUI: C3164374
Disease: Abnormality of pulmonary valve
Abnormality of pulmonary valve 		40 0 14 0.12 0 0
CUI: C0239676
Disease: High forehead
High forehead 		211 0 32 0.12 0 0
CUI: C1866195
Disease: Downturned corners of mouth
Downturned corners of mouth 		122 0 22 0.12 0 0
CUI: C1853487
Disease: Thick eyebrow
Thick eyebrow 		104 0 20 0.12 0 0
CUI: C0015300
Disease: Exophthalmos
Exophthalmos 		225 0 32 0.11 0 0
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		23 83 11 0.11 1 1.1E-02
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		186 20 27 0.11 2 6.9E-02
CUI: C0578038
Disease: Thin lips
Thin lips 		99 0 18 0.11 0 0
CUI: C1846821
Disease: Abnormality of coagulation
Abnormality of coagulation 		59 0 14 0.11 0 0
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 0 46 0.11 0 0
CUI: C1458140
Disease: Bleeding tendency
Bleeding tendency 		71 0 15 0.11 0 0
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		417 30 48 0.11 1 2.5E-02
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		251 0 32 0.10 0 0
CUI: C4082169
Disease: Metatarsus Varus
Metatarsus Varus 		41 3 12 0.10 1 7.7E-02
CUI: C0025990
Disease: Micrognathism
Micrognathism 		586 53 63 0.10 1 1.6E-02
CUI: C1865572
Disease: Proximal placement of thumb
Proximal placement of thumb 		32 3 11 0.10 1 7.7E-02
CUI: C0041409
Disease: Turner Syndrome, Male
Turner Syndrome, Male 		11 0 9 0.10 0 0