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: C1837404
Disease: High, narrow palate
High, narrow palate 		19 21 8 0.26 6 0.16
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		29 30 8 0.20 6 0.13
CUI: C1857539
Disease: Deep palmar crease
Deep palmar crease 		7 8 4 0.17 4 0.15
CUI: C0239676
Disease: High forehead
High forehead 		14 17 5 0.17 4 0.11
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		35 49 8 0.17 6 9.1E-02
CUI: C4282407
Disease: Sparse and thin eyebrow
Sparse and thin eyebrow 		8 8 4 0.17 2 6.9E-02
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		30 35 7 0.16 8 0.16
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		19 38 5 0.15 6 0.11
CUI: C0558165
Disease: Curly hair (finding)
Curly hair (finding) 		4 7 3 0.14 1 3.4E-02
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		13 0 4 0.14 0 0
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		63 77 10 0.14 8 8.7E-02
CUI: C1839797
Disease: Deep philtrum
Deep philtrum 		5 5 3 0.14 2 7.7E-02
CUI: C0239234
Disease: Low set ears
Low set ears 		56 64 9 0.13 6 7.4E-02
CUI: C1842364
Disease: Central hypotonia
Central hypotonia 		23 25 5 0.13 1 2.1E-02
CUI: C0575897
Disease: Thumb deformity
Thumb deformity 		6 7 3 0.13 1 3.4E-02
CUI: C1860493
Disease: Abnormality of the sternum
Abnormality of the sternum 		6 11 3 0.13 1 3.0E-02
CUI: C0004106
Disease: Astigmatism
Astigmatism 		15 14 4 0.13 1 2.8E-02
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma 		7 0 3 0.12 0 0
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		35 47 6 0.12 3 4.5E-02
CUI: C3150613
Disease: Long toe
Long toe 		8 8 3 0.12 1 3.3E-02
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion 		18 25 4 0.12 2 4.3E-02
CUI: C0423798
Disease: Increased tendency to bruise
Increased tendency to bruise 		9 14 3 0.12 1 2.8E-02
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		19 18 4 0.11 1 2.5E-02
CUI: C0221358
Disease: Long narrow head
Long narrow head 		19 26 4 0.11 3 6.5E-02
CUI: C1827524
Disease: Wide spaced nipples
Wide spaced nipples 		19 19 4 0.11 4 0.11