Source: CLINVAR ×
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: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		35 49 11 0.18 9 0.10
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		17 19 7 0.15 4 6.2E-02
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		26 29 8 0.15 7 9.9E-02
CUI: C0239676
Disease: High forehead
High forehead 		14 17 6 0.13 3 4.8E-02
CUI: C1854301
Disease: Motor delay
Motor delay 		27 34 7 0.12 5 6.4E-02
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		46 66 9 0.12 7 6.5E-02
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		37 39 8 0.12 6 7.3E-02
CUI: C1837404
Disease: High, narrow palate
High, narrow palate 		19 21 6 0.12 4 6.1E-02
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		19 38 6 0.12 9 0.12
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		29 30 7 0.12 5 6.8E-02
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		30 42 7 0.12 8 9.6E-02
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		12 153 5 0.11 11 5.8E-02
CUI: C0151526
Disease: Premature Birth
Premature Birth 		35 40 7 0.11 5 6.0E-02
CUI: C4023342
Disease: Gastrostomy tube feeding in infancy
Gastrostomy tube feeding in infancy 		15 19 5 0.11 5 7.9E-02
CUI: C0521525
Disease: Short neck
Short neck 		26 29 6 0.11 6 8.3E-02
CUI: C1860493
Disease: Abnormality of the sternum
Abnormality of the sternum 		6 11 4 0.10 3 5.3E-02
CUI: C0015672
Disease: Fatigue
Fatigue 		18 19 5 1.0E-01 4 6.2E-02
CUI: C0221263
Disease: Cafe-au-Lait Spots
Cafe-au-Lait Spots 		18 32 5 1.0E-01 2 2.5E-02
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		63 77 9 9.9E-02 9 7.7E-02
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		19 18 5 9.8E-02 3 4.7E-02
CUI: C1839758
Disease: Narrow forehead
Narrow forehead 		19 20 5 9.8E-02 4 6.2E-02
CUI: C4282407
Disease: Sparse and thin eyebrow
Sparse and thin eyebrow 		8 8 4 9.8E-02 2 3.6E-02
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		31 34 6 9.7E-02 2 2.5E-02
CUI: C1854114
Disease: Short nose
Short nose 		20 23 5 9.6E-02 4 5.9E-02
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear 		21 23 5 9.4E-02 1 1.4E-02