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: C4020699
Disease: Congenital dermal melanocytosis
Congenital dermal melanocytosis 		3 3 3 0.21 3 0.14
CUI: C1853738
Disease: Long eyelashes
Long eyelashes 		13 17 4 0.17 4 0.11
CUI: C1853487
Disease: Thick eyebrow
Thick eyebrow 		9 13 3 0.15 5 0.17
CUI: C0015732
Disease: Fecal Incontinence
Fecal Incontinence 		10 12 3 0.14 1 3.0E-02
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		26 29 5 0.14 2 4.1E-02
CUI: C1854928
Disease: Protuberant abdomen
Protuberant abdomen 		2 2 2 0.14 2 9.1E-02
CUI: C3807980
Disease: Apneic episodes in infancy
Apneic episodes in infancy 		2 2 2 0.14 2 9.1E-02
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		19 18 4 0.14 2 5.3E-02
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		11 12 3 0.14 2 6.2E-02
CUI: C0277959
Disease: Coarse hair
Coarse hair 		3 4 2 0.13 2 8.3E-02
CUI: C0566620
Disease: Nasal voice
Nasal voice 		3 0 2 0.13 0 0
CUI: C0019294
Disease: Hernia, Inguinal
Hernia, Inguinal 		13 15 3 0.12 3 8.8E-02
CUI: C0426970
Disease: Spastic Quadriplegia
Spastic Quadriplegia 		4 0 2 0.12 0 0
CUI: C1842366
Disease: Low anterior hairline
Low anterior hairline 		13 17 3 0.12 3 8.3E-02
CUI: C4023116
Disease: Hypoplastic fifth toenail
Hypoplastic fifth toenail 		4 4 2 0.12 1 4.0E-02
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		23 25 4 0.12 3 6.8E-02
CUI: C0266589
Disease: Congenital ear anomaly NOS (disorder)
Congenital ear anomaly NOS (disorder) 		5 5 2 0.12 1 3.8E-02
CUI: C1839739
Disease: Thick lower lip vermilion
Thick lower lip vermilion 		5 10 2 0.12 1 3.2E-02
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		46 66 6 0.11 6 7.3E-02
CUI: C0265535
Disease: Trigonocephaly
Trigonocephaly 		6 6 2 0.11 1 3.7E-02
CUI: C0497327
Disease: Dementia
Dementia 		6 0 2 0.11 0 0
CUI: C0585984
Disease: Laryngotracheomalacia
Laryngotracheomalacia 		6 6 2 0.11 2 7.7E-02
CUI: C0684276
Disease: Hypsarrhythmia
Hypsarrhythmia 		6 0 2 0.11 0 0
CUI: C1845251
Disease: Facial hypotonia
Facial hypotonia 		6 6 2 0.11 1 3.7E-02
CUI: C0002418
Disease: Amblyopia
Amblyopia 		17 22 3 0.11 3 7.3E-02