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: C0240116
Disease: Hyperactive patellar reflex
Hyperactive patellar reflex 		3 3 3 0.23 2 0.11
CUI: C1305740
Disease: Overbite
Overbite 		5 5 3 0.20 3 0.16
CUI: C0032914
Disease: Pre-Eclampsia
Pre-Eclampsia 		7 8 3 0.18 2 8.7E-02
CUI: C0238397
Disease: Pulmonary artery stenosis
Pulmonary artery stenosis 		2 0 2 0.15 0 0
CUI: C1836674
Disease: Short distal phalanx of the 5th finger
Short distal phalanx of the 5th finger 		2 2 2 0.15 2 0.12
CUI: C1845878
Disease: Irregularly spaced teeth
Irregularly spaced teeth 		2 2 2 0.15 2 0.12
CUI: C1850601
Disease: Abnormality of brainstem morphology
Abnormality of brainstem morphology 		2 2 2 0.15 1 5.6E-02
CUI: C1861239
Disease: Plantar flexion contractures
Plantar flexion contractures 		2 2 2 0.15 1 5.6E-02
CUI: C4021065
Disease: Fullness of paranasal tissue
Fullness of paranasal tissue 		2 2 2 0.15 2 0.12
CUI: C4021892
Disease: Absent fifth toenail
Absent fifth toenail 		2 2 2 0.15 2 0.12
CUI: C4022786
Disease: Iron accumulation in globus pallidus
Iron accumulation in globus pallidus 		2 2 2 0.15 1 5.6E-02
CUI: C4025316
Disease: Temporal hypotrichosis
Temporal hypotrichosis 		2 2 2 0.15 2 0.12
CUI: C0024433
Disease: Macrostomia
Macrostomia 		10 11 3 0.15 3 0.12
CUI: C1855728
Disease: Low posterior hairline
Low posterior hairline 		10 11 3 0.15 3 0.12
CUI: C4025790
Disease: Specific learning disability
Specific learning disability 		10 13 3 0.15 3 0.11
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion 		18 25 4 0.15 3 7.7E-02
CUI: C1836047
Disease: Long face
Long face 		11 12 3 0.14 2 7.4E-02
CUI: C4022765
Disease: Abnormality of the subarachnoid space
Abnormality of the subarachnoid space 		3 4 2 0.14 2 0.11
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		28 39 5 0.14 6 0.12
CUI: C0039239
Disease: Sinus Tachycardia
Sinus Tachycardia 		4 5 2 0.13 2 1.0E-01
CUI: C0409345
Disease: Flexion contracture - wrist
Flexion contracture - wrist 		4 4 2 0.13 1 5.0E-02
CUI: C1853377
Disease: Enlarged cisterna magna
Enlarged cisterna magna 		4 4 2 0.13 1 5.0E-02
CUI: C4025724
Disease: Abnormality of the cerebral ventricles
Abnormality of the cerebral ventricles 		4 5 2 0.13 2 1.0E-01
CUI: C1853738
Disease: Long eyelashes
Long eyelashes 		13 17 3 0.13 3 9.7E-02
CUI: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile 		22 27 4 0.13 3 7.3E-02