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: C1864186
Disease: CDAGS SYNDROME
CDAGS SYNDROME 		1 0 1 1.00 0 0
CUI: C2675370
Disease: Capillary Malformation Without Arteriovenous Malformation
Capillary Malformation Without Arteriovenous Malformation 		2 0 1 0.50 0 0
CUI: C1859690
Disease: CAMPTODACTYLY-ARTHROPATHY-COXA VARA-PERICARDITIS SYNDROME
CAMPTODACTYLY-ARTHROPATHY-COXA VARA-PERICARDITIS SYNDROME 		5 0 1 0.20 0 0
CUI: C3280303
Disease: Abnormal hair whorl
Abnormal hair whorl 		5 0 1 0.20 0 0
CUI: C1842180
Disease: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder)
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder) 		22 0 1 4.5E-02 0 0
CUI: C0085996
Disease: Child Development Deviations
Child Development Deviations 		29 0 1 3.4E-02 0 0
CUI: C0085997
Disease: Child Development Disorders, Specific
Child Development Disorders, Specific 		30 0 1 3.3E-02 0 0
CUI: C3853041
Disease: Severe Congenital Microcephaly
Severe Congenital Microcephaly 		35 0 1 2.9E-02 0 0
CUI: C1956147
Disease: Microlissencephaly
Microlissencephaly 		40 0 1 2.5E-02 0 0
CUI: C0575059
Disease: Spastic tetraparesis
Spastic tetraparesis 		50 0 1 2.0E-02 0 0
CUI: C0263523
Disease: Micronychia (disorder)
Micronychia (disorder) 		60 0 1 1.7E-02 0 0
CUI: C1850456
Disease: Progressive microcephaly
Progressive microcephaly 		67 0 1 1.5E-02 0 0
CUI: C0016522
Disease: Foramen Ovale, Patent
Foramen Ovale, Patent 		73 0 1 1.4E-02 0 0
CUI: C0236018
Disease: Aura
Aura 		83 0 1 1.2E-02 0 0
CUI: C0751111
Disease: Awakening Epilepsy
Awakening Epilepsy 		83 0 1 1.2E-02 0 0
CUI: C1839829
Disease: Short distal phalanx of finger
Short distal phalanx of finger 		85 0 1 1.2E-02 0 0
CUI: C0426421
Disease: Wide nose
Wide nose 		87 0 1 1.1E-02 0 0
CUI: C0086237
Disease: Epilepsy, Cryptogenic
Epilepsy, Cryptogenic 		88 0 1 1.1E-02 0 0
CUI: C1277241
Disease: Delayed myelination
Delayed myelination 		112 0 1 8.9E-03 0 0
CUI: C0240310
Disease: Hypoplasia of the maxilla
Hypoplasia of the maxilla 		113 0 1 8.8E-03 0 0
CUI: C0002171
Disease: Alopecia Areata
Alopecia Areata 		114 0 1 8.8E-03 0 0
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		130 0 1 7.7E-03 0 0
CUI: C4551485
Disease: Clinodactyly
Clinodactyly 		148 0 1 6.8E-03 0 0
CUI: C1857679
Disease: Sloping forehead
Sloping forehead 		149 0 1 6.7E-03 0 0
CUI: C0302511
Disease: Small for gestational age fetus
Small for gestational age fetus 		156 0 1 6.4E-03 0 0