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: C1839731
Disease: 11 pairs of ribs
11 pairs of ribs 		20 0 2 6.9E-02 0 0
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		85 0 1 1.1E-02 0 0
CUI: C1837836
Disease: 4-5 toe syndactyly
4-5 toe syndactyly 		4 0 1 7.1E-02 0 0
CUI: C3711391
Disease: 6q24-Related Transient Neonatal Diabetes Mellitus
6q24-Related Transient Neonatal Diabetes Mellitus 		2 0 2 0.18 0 0
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		42 0 1 1.9E-02 0 0
CUI: C0000735
Disease: Abdominal Neoplasms
Abdominal Neoplasms 		13 0 1 4.3E-02 0 0
CUI: C4022983
Disease: Abnormal ciliary motility
Abnormal ciliary motility 		9 0 1 5.3E-02 0 0
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology 		70 10 2 2.5E-02 2 0.17
CUI: C1859481
Disease: Abnormal finger flexion creases
Abnormal finger flexion creases 		3 0 1 7.7E-02 0 0
CUI: C1839326
Disease: Abnormal form of the vertebral bodies
Abnormal form of the vertebral bodies 		89 0 1 1.0E-02 0 0
CUI: C0221199
Disease: Abnormal palmar creases
Abnormal palmar creases 		5 3 1 6.7E-02 1 0.17
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		104 0 1 8.8E-03 0 0
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		198 0 2 9.7E-03 0 0
CUI: C4021800
Disease: Abnormality of dental enamel
Abnormality of dental enamel 		96 0 1 9.4E-03 0 0
CUI: C4021808
Disease: Abnormality of earlobe
Abnormality of earlobe 		9 0 2 0.11 0 0
CUI: C4021611
Disease: Abnormality of epiphysis morphology
Abnormality of epiphysis morphology 		86 0 2 2.1E-02 0 0
CUI: C4020960
Disease: Abnormality of nail color
Abnormality of nail color 		8 0 1 5.6E-02 0 0
CUI: C4020847
Disease: Abnormality of pelvic girdle bone morphology
Abnormality of pelvic girdle bone morphology 		55 0 1 1.5E-02 0 0
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation 		215 0 2 8.9E-03 0 0
CUI: C4025249
Disease: Abnormality of the intervertebral disk
Abnormality of the intervertebral disk 		30 0 1 2.5E-02 0 0
CUI: C4021785
Disease: Abnormality of the metacarpal bones
Abnormality of the metacarpal bones 		40 0 1 2.0E-02 0 0
CUI: C4025814
Disease: Abnormality of the metaphysis
Abnormality of the metaphysis 		97 0 1 9.3E-03 0 0
CUI: C4025406
Disease: Abnormality of the middle phalanx of the 5th finger
Abnormality of the middle phalanx of the 5th finger 		1 0 1 9.1E-02 0 0
CUI: C0029131
Disease: Abnormality of the optic nerve
Abnormality of the optic nerve 		18 0 1 3.6E-02 0 0
CUI: C1846460
Disease: Abnormality of the outer ear
Abnormality of the outer ear 		95 8 1 9.5E-03 1 9.1E-02