Source: CURATED ×
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 		0 350 0 0 1 2.7E-03
CUI: C0005697
Disease: Neurogenic Urinary Bladder
Neurogenic Urinary Bladder 		0 9 0 0 1 3.2E-02
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		0 35 0 0 2 3.6E-02
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0 44 0 0 1 1.5E-02
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0 240 0 0 1 3.8E-03
CUI: C0079924
Disease: Oligohydramnios
Oligohydramnios 		0 21 0 0 2 4.8E-02
CUI: C0080178
Disease: Spina Bifida
Spina Bifida 		0 3 0 0 1 4.0E-02
CUI: C0080218
Disease: Tethered Cord Syndrome
Tethered Cord Syndrome 		0 2 0 0 1 4.2E-02
CUI: C0152101
Disease: Hypoplastic Left Heart Syndrome
Hypoplastic Left Heart Syndrome 		0 7 0 0 1 3.4E-02
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		0 92 0 0 2 1.8E-02
CUI: C0239676
Disease: High forehead
High forehead 		0 17 0 0 2 5.3E-02
CUI: C0338502
Disease: Hypoplasia of the optic nerve
Hypoplasia of the optic nerve 		0 13 0 0 2 5.9E-02
CUI: C0432163
Disease: Defect of vertebral segmentation
Defect of vertebral segmentation 		0 6 0 0 1 3.6E-02
CUI: C0856863
Disease: Broad-based gait
Broad-based gait 		0 24 0 0 1 2.2E-02
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		0 56 0 0 2 2.6E-02
CUI: C1827524
Disease: Wide spaced nipples
Wide spaced nipples 		0 19 0 0 2 5.0E-02
CUI: C1836047
Disease: Long face
Long face 		0 12 0 0 2 6.1E-02
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0 78 0 0 1 1.0E-02
CUI: C1836940
Disease: Thickened nuchal skin fold
Thickened nuchal skin fold 		0 4 0 0 2 8.0E-02
CUI: C1842083
Disease: Abnormality of the ribs
Abnormality of the ribs 		0 5 0 0 1 3.7E-02
CUI: C1844573
Disease: Large earlobe
Large earlobe 		0 2 0 0 2 8.7E-02
CUI: C1844731
Disease: Hypoplastic nasal tip
Hypoplastic nasal tip 		0 2 0 0 2 8.7E-02
CUI: C1844752
Disease: Butterfly vertebrae
Butterfly vertebrae 		0 2 0 0 1 4.2E-02
CUI: C1849185
Disease: Elevated 7-dehydrocholesterol
Elevated 7-dehydrocholesterol 		0 3 0 0 1 4.0E-02
CUI: C1849311
Disease: Short 1st metacarpal
Short 1st metacarpal 		0 1 0 0 1 4.3E-02