Source: ALL
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: C4551771
Disease: Kleefstra syndrome
Kleefstra syndrome 		9 0 2 6.9E-02 0 0
CUI: C1836940
Disease: Thickened nuchal skin fold
Thickened nuchal skin fold 		58 4 5 6.7E-02 2 6.9E-02
CUI: C4021803
Disease: Abnormal eyelid morphology
Abnormal eyelid morphology 		10 3 2 6.7E-02 1 3.4E-02
CUI: C0522055
Disease: Electrocardiogram abnormal
Electrocardiogram abnormal 		11 54 2 6.5E-02 1 1.3E-02
CUI: C1865038
Disease: Broad toe
Broad toe 		11 2 2 6.5E-02 2 7.4E-02
CUI: C4025701
Disease: Abnormality of the cerebral cortex
Abnormality of the cerebral cortex 		11 8 2 6.5E-02 3 9.4E-02
CUI: C0013132
Disease: Drooling
Drooling 		95 14 7 6.4E-02 5 0.14
CUI: C0175691
Disease: Dubowitz syndrome
Dubowitz syndrome 		12 0 2 6.2E-02 0 0
CUI: C0263491
Disease: Pili Torti
Pili Torti 		12 0 2 6.2E-02 0 0
CUI: C4023397
Disease: Abnormal hair quantity
Abnormal hair quantity 		29 0 3 6.2E-02 0 0
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		30 46 3 6.1E-02 3 4.3E-02
CUI: C0008767
Disease: Cicatrization
Cicatrization 		13 3 2 6.1E-02 3 0.11
CUI: C0035300
Disease: Abnormal retinal morphology
Abnormal retinal morphology 		13 8 2 6.1E-02 3 9.4E-02
CUI: C0586553
Disease: Raised TSH level
Raised TSH level 		13 0 2 6.1E-02 0 0
CUI: C3806301
Disease: Scarring alopecia of scalp
Scarring alopecia of scalp 		13 3 2 6.1E-02 3 0.11
CUI: C0240116
Disease: Hyperactive patellar reflex
Hyperactive patellar reflex 		14 0 2 5.9E-02 0 0
CUI: C1857710
Disease: Progeroid facial appearance
Progeroid facial appearance 		14 0 2 5.9E-02 0 0
CUI: C4317146
Disease: Acid reflux
Acid reflux 		50 58 4 5.9E-02 4 4.9E-02
CUI: C0240914
Disease: Romberg's sign positive
Romberg's sign positive 		15 0 2 5.7E-02 0 0
CUI: C0574769
Disease: Loss of scalp hair
Loss of scalp hair 		16 4 2 5.6E-02 3 0.11
CUI: C1835807
Disease: Prominent fingertip pads
Prominent fingertip pads 		16 8 2 5.6E-02 2 6.1E-02
CUI: C1849340
Disease: Long palpebral fissure
Long palpebral fissure 		73 10 5 5.6E-02 4 0.12
CUI: C1857644
Disease: Retinal pigment epithelial mottling
Retinal pigment epithelial mottling 		16 2 2 5.6E-02 2 7.4E-02
CUI: C4023385
Disease: Aplasia of the semicircular canal
Aplasia of the semicircular canal 		16 0 2 5.6E-02 0 0
CUI: C4551596
Disease: Abnormal renal morphology
Abnormal renal morphology 		35 0 3 5.6E-02 0 0