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: C1854114
Disease: Short nose
Short nose 		20 23 8 0.26 6 0.16
CUI: C0239676
Disease: High forehead
High forehead 		14 17 6 0.22 5 0.15
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		35 49 8 0.17 8 0.13
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear 		21 23 5 0.14 5 0.13
CUI: C0576093
Disease: Knee joint valgus deformity
Knee joint valgus deformity 		5 5 3 0.14 3 0.13
CUI: C1835884
Disease: Triangular face
Triangular face 		13 16 4 0.14 1 2.8E-02
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		14 16 4 0.14 4 0.12
CUI: C0024636
Disease: Malocclusion
Malocclusion 		6 6 3 0.14 3 0.12
CUI: C0239234
Disease: Low set ears
Low set ears 		56 64 9 0.14 5 6.2E-02
CUI: C0263523
Disease: Micronychia (disorder)
Micronychia (disorder) 		6 5 3 0.14 2 8.3E-02
CUI: C1860493
Disease: Abnormality of the sternum
Abnormality of the sternum 		6 11 3 0.14 1 3.2E-02
CUI: C0004106
Disease: Astigmatism
Astigmatism 		15 14 4 0.13 2 6.1E-02
CUI: C1868571
Disease: Highly arched eyebrow
Highly arched eyebrow 		15 14 4 0.13 2 6.1E-02
CUI: C4023808
Disease: Hyperextensibility at elbow
Hyperextensibility at elbow 		7 7 3 0.13 3 0.12
CUI: C0521525
Disease: Short neck
Short neck 		26 29 5 0.12 3 6.4E-02
CUI: C3150613
Disease: Long toe
Long toe 		8 8 3 0.12 4 0.16
CUI: C4282407
Disease: Sparse and thin eyebrow
Sparse and thin eyebrow 		8 8 3 0.12 3 0.12
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		63 77 9 0.12 8 8.9E-02
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		37 49 6 0.12 4 6.1E-02
CUI: C0423798
Disease: Increased tendency to bruise
Increased tendency to bruise 		9 14 3 0.12 1 2.9E-02
CUI: C0747085
Disease: Recurrent otitis media
Recurrent otitis media 		9 10 3 0.12 2 6.9E-02
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		37 39 6 0.12 6 0.11
CUI: C0221358
Disease: Long narrow head
Long narrow head 		19 26 4 0.12 3 6.8E-02
CUI: C1839758
Disease: Narrow forehead
Narrow forehead 		19 20 4 0.12 4 0.11
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		29 30 5 0.12 4 8.5E-02