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: C4023424
Disease: Prominent digit pad
Prominent digit pad 		4 3 3 0.19 2 0.13
CUI: C1865304
Disease: Overfolding of the superior helices
Overfolding of the superior helices 		6 7 3 0.17 3 0.17
CUI: C4551488
Disease: Bifid uvula
Bifid uvula 		7 7 3 0.16 2 0.11
CUI: C0004106
Disease: Astigmatism
Astigmatism 		15 14 4 0.15 2 7.7E-02
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge 		8 8 3 0.15 3 0.16
CUI: C0020490
Disease: Hyperopia
Hyperopia 		16 17 4 0.15 2 6.9E-02
CUI: C0747085
Disease: Recurrent otitis media
Recurrent otitis media 		9 10 3 0.14 2 9.1E-02
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		17 19 4 0.14 2 6.5E-02
CUI: C4025871
Disease: Abnormality of the face
Abnormality of the face 		9 24 3 0.14 1 2.7E-02
CUI: C0575158
Disease: Kyphoscoliosis deformity of spine
Kyphoscoliosis deformity of spine 		10 15 3 0.14 2 7.4E-02
CUI: C1855728
Disease: Low posterior hairline
Low posterior hairline 		10 11 3 0.14 3 0.14
CUI: C0152236
Disease: Talipes valgus
Talipes valgus 		2 2 2 0.13 2 0.14
CUI: C0231688
Disease: Gait, Shuffling
Gait, Shuffling 		2 2 2 0.13 1 6.7E-02
CUI: C0558844
Disease: Knee reflex absent
Knee reflex absent 		2 0 2 0.13 0 0
CUI: C0856863
Disease: Broad-based gait
Broad-based gait 		19 24 4 0.13 2 5.6E-02
CUI: C1837404
Disease: High, narrow palate
High, narrow palate 		19 21 4 0.13 2 6.1E-02
CUI: C1969653
Disease: MUNGAN SYNDROME
MUNGAN SYNDROME 		2 0 2 0.13 0 0
CUI: C3553517
Disease: CORNELIA DE LANGE SYNDROME 4
CORNELIA DE LANGE SYNDROME 4 		2 11 2 0.13 1 4.2E-02
CUI: C4023801
Disease: Fibular bowing
Fibular bowing 		2 2 2 0.13 2 0.14
CUI: C4025138
Disease: Multiple skeletal anomalies
Multiple skeletal anomalies 		2 2 2 0.13 2 0.14
CUI: C0016522
Disease: Foramen Ovale, Patent
Foramen Ovale, Patent 		11 11 3 0.13 3 0.14
CUI: C1836047
Disease: Long face
Long face 		11 12 3 0.13 2 8.3E-02
CUI: C1849089
Disease: Broad forehead
Broad forehead 		11 13 3 0.13 2 8.0E-02
CUI: C0239234
Disease: Low set ears
Low set ears 		56 64 8 0.13 4 5.4E-02
CUI: C0018777
Disease: Conductive hearing loss
Conductive hearing loss 		3 4 2 0.12 1 5.9E-02