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: C0267048
Disease: Glossoptosis
Glossoptosis 		25 1 2 3.7E-02 1 0.50
CUI: C4022447
Disease: Abnormality of the tympanic membrane
Abnormality of the tympanic membrane 		1 1 1 3.2E-02 1 0.50
CUI: C4025190
Disease: Abnormal epiglottis morphology
Abnormal epiglottis morphology 		2 1 1 3.1E-02 1 0.50
CUI: C4073241
Disease: Abnormality of nasopharyngeal adenoids
Abnormality of nasopharyngeal adenoids 		1 1 1 3.2E-02 1 0.50
CUI: C0152441
Disease: Madelung Deformity
Madelung Deformity 		8 2 2 5.4E-02 1 0.33
CUI: C0231688
Disease: Gait, Shuffling
Gait, Shuffling 		28 2 1 1.7E-02 1 0.33
CUI: C0241521
Disease: Ulnar deviation of hand
Ulnar deviation of hand 		12 2 1 2.4E-02 1 0.33
CUI: C1846176
Disease: Hyperactive deep tendon reflexes
Hyperactive deep tendon reflexes 		32 2 2 3.3E-02 1 0.33
CUI: C3276623
Disease: Toenail dysplasia
Toenail dysplasia 		13 2 1 2.3E-02 1 0.33
CUI: C4023801
Disease: Fibular bowing
Fibular bowing 		9 2 1 2.6E-02 1 0.33
CUI: C4024158
Disease: Abnormality of the columella
Abnormality of the columella 		2 2 1 3.1E-02 1 0.33
CUI: C4025138
Disease: Multiple skeletal anomalies
Multiple skeletal anomalies 		3 2 1 3.0E-02 1 0.33
CUI: C1839816
Disease: Long neck
Long neck 		7 3 1 2.7E-02 1 0.25
CUI: C4023424
Disease: Prominent digit pad
Prominent digit pad 		4 3 1 2.9E-02 1 0.25
CUI: C0018777
Disease: Conductive hearing loss
Conductive hearing loss 		291 5 11 3.5E-02 1 0.17
CUI: C1398312
Disease: Narrow palate
Narrow palate 		40 5 3 4.4E-02 1 0.17
CUI: C1860819
Disease: Metopic synostosis
Metopic synostosis 		28 5 2 3.5E-02 1 0.17
CUI: C0018536
Disease: Hallux Valgus
Hallux Valgus 		61 6 3 3.4E-02 1 0.14
CUI: C0023221
Disease: Leg Length Inequality
Leg Length Inequality 		27 6 1 1.8E-02 1 0.14
CUI: C0409348
Disease: Flexion contracture of proximal interphalangeal joint
Flexion contracture of proximal interphalangeal joint 		168 7 12 6.4E-02 1 0.12
CUI: C1845447
Disease: Cupped ears (finding)
Cupped ears (finding) 		45 7 2 2.7E-02 1 0.12
CUI: C0240538
Disease: Convex nasal ridge
Convex nasal ridge 		69 8 3 3.1E-02 1 0.11
CUI: C0578038
Disease: Thin lips
Thin lips 		99 8 6 4.8E-02 1 0.11
CUI: C1834055
Disease: Underdeveloped nasal alae
Underdeveloped nasal alae 		79 8 6 5.8E-02 1 0.11
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge 		180 8 7 3.4E-02 1 0.11