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: C0026961
Disease: Mydriasis
Mydriasis 		0 2 0 0 1 0.25
CUI: C0221263
Disease: Cafe-au-Lait Spots
Cafe-au-Lait Spots 		0 32 0 0 1 2.9E-02
CUI: C0240595
Disease: Rotary Nystagmus
Rotary Nystagmus 		0 3 0 0 1 0.20
CUI: C0426209
Disease: amniotic fluid meconium stained
amniotic fluid meconium stained 		0 4 0 0 1 0.17
CUI: C0546884
Disease: Hypovolemia
Hypovolemia 		0 3 0 0 1 0.20
CUI: C1835807
Disease: Prominent fingertip pads
Prominent fingertip pads 		0 8 0 0 1 1.0E-01
CUI: C1837404
Disease: High, narrow palate
High, narrow palate 		0 21 0 0 1 4.3E-02
CUI: C1839783
Disease: Large forehead
Large forehead 		0 1 0 0 1 0.33
CUI: C1843244
Disease: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2 		0 10 0 0 1 8.3E-02
CUI: C1844577
Disease: Hyperextensibility of the finger joints
Hyperextensibility of the finger joints 		0 5 0 0 1 0.14
CUI: C1850629
Disease: Exaggerated cupid's bow
Exaggerated cupid's bow 		0 6 0 0 1 0.12
CUI: C1857479
Disease: Short columella
Short columella 		0 5 0 0 1 0.14
CUI: C1859481
Disease: Abnormal finger flexion creases
Abnormal finger flexion creases 		0 1 0 0 1 0.33
CUI: C1867131
Disease: Broad hallux
Broad hallux 		0 14 0 0 1 6.2E-02
CUI: C1969810
Disease: FEBRILE CONVULSIONS, FAMILIAL, 8
FEBRILE CONVULSIONS, FAMILIAL, 8 		0 13 0 0 1 6.7E-02
CUI: C3150613
Disease: Long toe
Long toe 		0 8 0 0 1 1.0E-01
CUI: C3276036
Disease: High anterior hairline
High anterior hairline 		0 3 0 0 1 0.20
CUI: C3697248
Disease: Short lower third of face
Short lower third of face 		0 3 0 0 1 0.20
CUI: C3810018
Disease: Bilateral coxa valga
Bilateral coxa valga 		0 3 0 0 1 0.20
CUI: C4021603
Disease: Widely spaced primary teeth
Widely spaced primary teeth 		0 1 0 0 1 0.33
CUI: C4023422
Disease: Long palm
Long palm 		0 2 0 0 1 0.25
CUI: C4024661
Disease: Abnormality of the vertebral spinous processes
Abnormality of the vertebral spinous processes 		0 1 0 0 1 0.33
CUI: C0042907
Disease: Vitreous Detachment
Vitreous Detachment 		1 0 1 2.6E-02 0 0
CUI: C0154674
Disease: Symptomatic torsion dystonia
Symptomatic torsion dystonia 		1 0 1 2.6E-02 0 0
CUI: C0154675
Disease: Fragments of torsion dystonia
Fragments of torsion dystonia 		1 0 1 2.6E-02 0 0