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: C1853738
Disease: Long eyelashes
Long eyelashes 		13 17 6 0.29 5 0.19
CUI: C0744356
Disease: Abnormality of the genital system
Abnormality of the genital system 		5 4 3 0.19 2 0.12
CUI: C0240912
Disease: Vertical Talus
Vertical Talus 		6 6 3 0.18 3 0.18
CUI: C1969653
Disease: MUNGAN SYNDROME
MUNGAN SYNDROME 		2 0 2 0.14 0 0
CUI: C3553517
Disease: CORNELIA DE LANGE SYNDROME 4
CORNELIA DE LANGE SYNDROME 4 		2 11 2 0.14 1 4.2E-02
CUI: C1836047
Disease: Long face
Long face 		11 12 3 0.14 1 4.0E-02
CUI: C0013903
Disease: Ellis-Van Creveld Syndrome
Ellis-Van Creveld Syndrome 		3 117 2 0.13 2 1.6E-02
CUI: C0457013
Disease: Weyers acrofacial dysostosis
Weyers acrofacial dysostosis 		3 20 2 0.13 1 3.0E-02
CUI: C0025990
Disease: Micrognathism
Micrognathism 		46 52 7 0.13 6 1.0E-01
CUI: C4023424
Disease: Prominent digit pad
Prominent digit pad 		4 3 2 0.12 1 6.2E-02
CUI: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure 		14 16 3 0.12 3 0.11
CUI: C1850629
Disease: Exaggerated cupid's bow
Exaggerated cupid's bow 		5 6 2 0.12 2 0.11
CUI: C4024597
Disease: Aplasia/Hypoplasia involving the pelvis
Aplasia/Hypoplasia involving the pelvis 		5 13 2 0.12 2 8.0E-02
CUI: C1868571
Disease: Highly arched eyebrow
Highly arched eyebrow 		15 14 3 0.12 1 3.7E-02
CUI: C1837463
Disease: Narrow face
Narrow face 		6 6 2 0.11 1 5.3E-02
CUI: C1845251
Disease: Facial hypotonia
Facial hypotonia 		6 6 2 0.11 2 0.11
CUI: C0015310
Disease: Exotropia
Exotropia 		17 21 3 0.11 1 2.9E-02
CUI: C1837482
Disease: Thoracic hypoplasia
Thoracic hypoplasia 		7 16 2 0.11 2 7.1E-02
CUI: C1842060
Disease: Prominent supraorbital ridges
Prominent supraorbital ridges 		7 10 2 0.11 3 0.14
CUI: C4317146
Disease: Acid reflux
Acid reflux 		50 58 6 0.10 5 7.5E-02
CUI: C1854912
Disease: Short long bone
Short long bone 		8 19 2 1.0E-01 2 6.5E-02
CUI: C1853487
Disease: Thick eyebrow
Thick eyebrow 		9 13 2 9.5E-02 3 0.12
CUI: C4072908
Disease: Induced vaginal delivery
Induced vaginal delivery 		9 10 2 9.5E-02 1 4.3E-02
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear 		21 23 3 9.4E-02 3 8.8E-02
CUI: C4025790
Disease: Specific learning disability
Specific learning disability 		10 13 2 9.1E-02 2 8.0E-02