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: C0423112
Disease: Short palpebral fissure
Short palpebral fissure 		15 0 4 0.17 0 0
CUI: C0008297
Disease: Choanal Atresia
Choanal Atresia 		2 4 2 0.17 1 6.2E-02
CUI: C4021734
Disease: Abnormality of mitochondrial metabolism
Abnormality of mitochondrial metabolism 		3 3 2 0.15 2 0.14
CUI: C0426209
Disease: amniotic fluid meconium stained
amniotic fluid meconium stained 		4 4 2 0.14 1 6.2E-02
CUI: C0431663
Disease: Bilateral Cryptorchidism
Bilateral Cryptorchidism 		5 0 2 0.13 0 0
CUI: C0024636
Disease: Malocclusion
Malocclusion 		6 6 2 0.12 1 5.6E-02
CUI: C1840069
Disease: Sandal gap
Sandal gap 		6 6 2 0.12 1 5.6E-02
CUI: C1855285
Disease: Protruding ear
Protruding ear 		6 0 2 0.12 0 0
CUI: C0005697
Disease: Neurogenic Urinary Bladder
Neurogenic Urinary Bladder 		7 9 2 0.12 2 1.0E-01
CUI: C0239815
Disease: Hand clenching
Hand clenching 		8 9 2 0.11 2 1.0E-01
CUI: C0578038
Disease: Thin lips
Thin lips 		8 8 2 0.11 2 0.11
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		19 18 3 0.11 1 3.3E-02
CUI: C1849340
Disease: Long palpebral fissure
Long palpebral fissure 		9 10 2 0.11 1 4.5E-02
CUI: C0240379
Disease: Open mouth (finding)
Open mouth (finding) 		10 11 2 1.0E-01 1 4.3E-02
CUI: C1859236
Disease: Prolonged neonatal jaundice
Prolonged neonatal jaundice 		22 14 3 9.7E-02 2 8.0E-02
CUI: C0221217
Disease: Neck webbing
Neck webbing 		11 0 2 9.5E-02 0 0
CUI: C1836923
Disease: Gastrointestinal dysmotility
Gastrointestinal dysmotility 		11 13 2 9.5E-02 2 8.3E-02
CUI: C4012968
Disease: Mild global developmental delay
Mild global developmental delay 		11 13 2 9.5E-02 1 4.0E-02
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		23 0 3 9.4E-02 0 0
CUI: C0240543
Disease: Bulbous nose
Bulbous nose 		12 13 2 9.1E-02 1 4.0E-02
CUI: C1861324
Disease: Short philtrum
Short philtrum 		24 25 3 9.1E-02 1 2.7E-02
CUI: C0521525
Disease: Short neck
Short neck 		26 29 3 8.6E-02 2 5.0E-02
CUI: C0013132
Disease: Drooling
Drooling 		14 14 2 8.3E-02 1 3.8E-02
CUI: C0014390
Disease: Entropion
Entropion 		1 0 1 8.3E-02 0 0
CUI: C0016242
Disease: Vitreous floaters
Vitreous floaters 		1 0 1 8.3E-02 0 0