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: C4022447
Disease: Abnormality of the tympanic membrane
Abnormality of the tympanic membrane 		1 1 1 1.00 1 5.9E-02
CUI: C4073241
Disease: Abnormality of nasopharyngeal adenoids
Abnormality of nasopharyngeal adenoids 		1 1 1 1.00 1 5.9E-02
CUI: C4024158
Disease: Abnormality of the columella
Abnormality of the columella 		2 2 1 0.50 2 0.12
CUI: C4025190
Disease: Abnormal epiglottis morphology
Abnormal epiglottis morphology 		2 1 1 0.50 1 5.9E-02
CUI: C1862474
Disease: Decreased facial expression
Decreased facial expression 		3 0 1 0.33 0 0
CUI: C4025138
Disease: Multiple skeletal anomalies
Multiple skeletal anomalies 		3 2 1 0.33 1 5.6E-02
CUI: C4022387
Disease: Recurrent hand flapping
Recurrent hand flapping 		4 0 1 0.25 0 0
CUI: C4023424
Disease: Prominent digit pad
Prominent digit pad 		4 3 1 0.25 1 5.3E-02
CUI: C0796232
Disease: Bohring syndrome
Bohring syndrome 		5 0 1 0.20 0 0
CUI: C1839816
Disease: Long neck
Long neck 		7 3 1 0.14 1 5.3E-02
CUI: C0152441
Disease: Madelung Deformity
Madelung Deformity 		8 2 1 0.12 1 5.6E-02
CUI: C4023801
Disease: Fibular bowing
Fibular bowing 		9 2 1 0.11 1 5.6E-02
CUI: C1843504
Disease: Pontocerebellar Hypoplasia Type 1
Pontocerebellar Hypoplasia Type 1 		10 0 1 1.0E-01 0 0
CUI: C4072908
Disease: Induced vaginal delivery
Induced vaginal delivery 		10 10 1 1.0E-01 1 3.8E-02
CUI: C0265514
Disease: Dermatofibrosis lenticularis disseminata
Dermatofibrosis lenticularis disseminata 		11 0 1 9.1E-02 0 0
CUI: C0241521
Disease: Ulnar deviation of hand
Ulnar deviation of hand 		12 2 1 8.3E-02 1 5.6E-02
CUI: C1305740
Disease: Overbite
Overbite 		13 5 1 7.7E-02 1 4.8E-02
CUI: C3276623
Disease: Toenail dysplasia
Toenail dysplasia 		13 2 1 7.7E-02 1 5.6E-02
CUI: C1856119
Disease: Low hanging columella
Low hanging columella 		17 0 1 5.9E-02 0 0
CUI: C0267048
Disease: Glossoptosis
Glossoptosis 		25 1 1 4.0E-02 1 5.9E-02
CUI: C0023221
Disease: Leg Length Inequality
Leg Length Inequality 		27 6 1 3.7E-02 1 4.5E-02
CUI: C0231688
Disease: Gait, Shuffling
Gait, Shuffling 		28 2 1 3.6E-02 1 5.6E-02
CUI: C1860819
Disease: Metopic synostosis
Metopic synostosis 		28 5 1 3.6E-02 1 4.8E-02
CUI: C1839798
Disease: Long nose
Long nose 		29 0 1 3.4E-02 0 0
CUI: C0454641
Disease: Expressive language delay
Expressive language delay 		30 25 1 3.3E-02 1 2.4E-02