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: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		251 350 3 1.2E-02 1 2.7E-03
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		362 247 2 5.4E-03 1 3.7E-03
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 164 2 2.1E-03 1 5.4E-03
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		783 111 3 3.8E-03 1 7.5E-03
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		30 96 1 2.7E-02 2 1.7E-02
CUI: C1836830
Disease: Developmental regression
Developmental regression 		333 80 1 2.9E-03 1 9.8E-03
CUI: C0080178
Disease: Spina Bifida
Spina Bifida 		179 61 1 5.4E-03 1 1.2E-02
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		41 56 1 2.1E-02 2 2.6E-02
CUI: C0017668
Disease: Focal glomerulosclerosis
Focal glomerulosclerosis 		281 50 5 1.8E-02 1 1.4E-02
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		285 44 1 3.4E-03 2 3.1E-02
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		106 40 1 8.8E-03 2 3.3E-02
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		427 32 2 4.6E-03 2 3.8E-02
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity 		320 25 1 3.1E-03 1 2.1E-02
CUI: C0856863
Disease: Broad-based gait
Broad-based gait 		75 24 1 1.2E-02 1 2.2E-02
CUI: C1854114
Disease: Short nose
Short nose 		265 23 1 3.7E-03 2 4.5E-02
CUI: C0079924
Disease: Oligohydramnios
Oligohydramnios 		129 21 6 4.6E-02 2 4.8E-02
CUI: C1827524
Disease: Wide spaced nipples
Wide spaced nipples 		96 19 1 9.7E-03 2 5.0E-02
CUI: C0239676
Disease: High forehead
High forehead 		211 17 2 9.2E-03 2 5.3E-02
CUI: C0338502
Disease: Hypoplasia of the optic nerve
Hypoplasia of the optic nerve 		59 14 1 1.5E-02 2 5.7E-02
CUI: C1836047
Disease: Long face
Long face 		182 12 2 1.1E-02 2 6.1E-02
CUI: C4310618
Disease: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME 		1 12 1 0.12 1 2.9E-02
CUI: C1852759
Disease: Papillorenal syndrome
Papillorenal syndrome 		5 11 1 8.3E-02 1 3.0E-02
CUI: C0005697
Disease: Neurogenic Urinary Bladder
Neurogenic Urinary Bladder 		43 9 1 2.0E-02 1 3.2E-02
CUI: C0152101
Disease: Hypoplastic Left Heart Syndrome
Hypoplastic Left Heart Syndrome 		52 7 2 3.4E-02 1 3.4E-02
CUI: C0432163
Disease: Defect of vertebral segmentation
Defect of vertebral segmentation 		40 6 1 2.1E-02 1 3.6E-02