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: C1837260
Disease: Prominent forehead
Prominent forehead 		159 0 11 5.2E-02 0 0
CUI: C1836940
Disease: Thickened nuchal skin fold
Thickened nuchal skin fold 		58 0 6 5.2E-02 0 0
CUI: C1846434
Disease: Hypoplastic scapulae
Hypoplastic scapulae 		18 0 4 5.1E-02 0 0
CUI: C1844548
Disease: Hypoplastic finger
Hypoplastic finger 		39 0 5 5.1E-02 0 0
CUI: C0878660
Disease: Proportionate short stature
Proportionate short stature 		19 11 4 5.1E-02 2 4.7E-02
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		40 0 5 5.1E-02 0 0
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		251 0 15 5.0E-02 0 0
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		272 36 16 5.0E-02 2 2.9E-02
CUI: C0265290
Disease: Metaphyseal chondrodysplasia
Metaphyseal chondrodysplasia 		20 0 4 5.0E-02 0 0
CUI: C1865244
Disease: Shallow orbits
Shallow orbits 		20 4 4 5.0E-02 1 2.7E-02
CUI: C4022735
Disease: Cerebral white matter atrophy
Cerebral white matter atrophy 		20 11 4 5.0E-02 3 7.1E-02
CUI: C4551649
Disease: Congenital Dysplasia Of The Hip
Congenital Dysplasia Of The Hip 		147 0 10 5.0E-02 0 0
CUI: C0234860
Disease: Weak cry
Weak cry 		42 4 5 5.0E-02 1 2.7E-02
CUI: C1848395
Disease: Large for gestational age
Large for gestational age 		43 10 5 4.9E-02 2 4.8E-02
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature 		86 6 7 4.9E-02 2 5.3E-02
CUI: C1837404
Disease: High, narrow palate
High, narrow palate 		129 21 9 4.9E-02 4 7.8E-02
CUI: C0265213
Disease: Distal arthrogryposis syndrome
Distal arthrogryposis syndrome 		22 15 4 4.9E-02 1 2.1E-02
CUI: C1837463
Disease: Narrow face
Narrow face 		87 6 7 4.9E-02 1 2.6E-02
CUI: C0009080
Disease: Clubbed Fingers
Clubbed Fingers 		88 0 7 4.8E-02 0 0
CUI: C0265783
Disease: Congenital hypoplasia of lung
Congenital hypoplasia of lung 		175 0 11 4.8E-02 0 0
CUI: C1854114
Disease: Short nose
Short nose 		265 23 15 4.8E-02 3 5.6E-02
CUI: C1837770
Disease: Sparse hair
Sparse hair 		112 9 8 4.8E-02 1 2.4E-02
CUI: C4021728
Disease: EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
EMG: decremental response of compound muscle action potential to repetitive nerve stimulation 		24 0 4 4.8E-02 0 0
CUI: C4282407
Disease: Sparse and thin eyebrow
Sparse and thin eyebrow 		68 8 6 4.8E-02 1 2.4E-02
CUI: C0086437
Disease: Joint laxity
Joint laxity 		224 0 13 4.7E-02 0 0