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: C1837142
Disease: Poor suck
Poor suck 		28 31 8 0.22 8 0.20
CUI: C0520679
Disease: Sleep Apnea, Obstructive
Sleep Apnea, Obstructive 		19 23 6 0.21 8 0.24
CUI: C0020295
Disease: Hydronephrosis
Hydronephrosis 		17 17 5 0.18 4 0.13
CUI: C0014877
Disease: Esotropia
Esotropia 		33 38 7 0.17 6 0.12
CUI: C0234860
Disease: Weak cry
Weak cry 		5 4 3 0.17 2 1.0E-01
CUI: C1866806
Disease: Unilateral ptosis
Unilateral ptosis 		5 4 3 0.17 2 1.0E-01
CUI: C0270846
Disease: Epileptic drop attack
Epileptic drop attack 		6 5 3 0.16 1 4.5E-02
CUI: C0700292
Disease: Hypoxemia
Hypoxemia 		6 7 3 0.16 3 0.14
CUI: C4023342
Disease: Gastrostomy tube feeding in infancy
Gastrostomy tube feeding in infancy 		15 19 4 0.15 3 8.8E-02
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		31 38 6 0.15 6 0.12
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		33 50 6 0.14 4 6.2E-02
CUI: C0040485
Disease: Torticollis
Torticollis 		9 8 3 0.14 2 8.3E-02
CUI: C0683322
Disease: Mental impairment
Mental impairment 		10 0 3 0.13 0 0
CUI: C1145670
Disease: Respiratory Failure
Respiratory Failure 		10 10 3 0.13 4 0.17
CUI: C0856863
Disease: Broad-based gait
Broad-based gait 		19 24 4 0.13 2 5.0E-02
CUI: C0025988
Disease: Microglossia
Microglossia 		2 2 2 0.12 2 0.11
CUI: C0152415
Disease: Ankyloglossia
Ankyloglossia 		2 2 2 0.12 1 5.3E-02
CUI: C0521620
Disease: Dilatation of ureter
Dilatation of ureter 		2 2 2 0.12 2 0.11
CUI: C1835117
Disease: Increased axial length of the globe
Increased axial length of the globe 		2 1 2 0.12 1 5.6E-02
CUI: C1836173
Disease: Generalized Epilepsy and Paroxysmal Dyskinesia
Generalized Epilepsy and Paroxysmal Dyskinesia 		2 4 2 0.12 1 4.8E-02
CUI: C1846464
Disease: Globe retraction and deviation on adduction
Globe retraction and deviation on adduction 		2 3 2 0.12 2 0.11
CUI: C1848873
Disease: Abnormality of the diaphragm
Abnormality of the diaphragm 		2 2 2 0.12 2 0.11
CUI: C1849357
Disease: Abnormality of the aryepiglottic fold
Abnormality of the aryepiglottic fold 		2 1 2 0.12 1 5.6E-02
CUI: C1851303
Disease: Abnormality of the renal collecting system
Abnormality of the renal collecting system 		2 1 2 0.12 1 5.6E-02
CUI: C3494422
Disease: Retrognathia
Retrognathia 		11 11 3 0.12 3 0.12