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: C0796124
Disease: Proud Syndrome
Proud Syndrome 		1 0 1 1.00 0 0
CUI: C1846171
Disease: Lissencephaly, X-Linked, 2
Lissencephaly, X-Linked, 2 		1 0 1 1.00 0 0
CUI: C2750247
Disease: Polymicrogyria, Asymmetric
Polymicrogyria, Asymmetric 		1 0 1 1.00 0 0
CUI: C0234523
Disease: Apraxia, Ideomotor
Apraxia, Ideomotor 		2 0 1 0.50 0 0
CUI: C0796244
Disease: MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (disorder)
MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (disorder) 		3 0 1 0.33 0 0
CUI: C0220775
Disease: RUSSELL-SILVER SYNDROME, X-LINKED
RUSSELL-SILVER SYNDROME, X-LINKED 		4 0 1 0.25 0 0
CUI: C1827396
Disease: Refractory infantile spasms
Refractory infantile spasms 		4 0 1 0.25 0 0
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		5 0 1 0.20 0 0
CUI: C3151495
Disease: Long upper lip
Long upper lip 		5 0 1 0.20 0 0
CUI: C0858684
Disease: Facial telangiectasia
Facial telangiectasia 		6 0 1 0.17 0 0
CUI: C0796225
Disease: Mental Retardation, X-Linked 19
Mental Retardation, X-Linked 19 		7 0 1 0.14 0 0
CUI: C0158687
Disease: Congenital malformation of genital organs
Congenital malformation of genital organs 		8 0 1 0.12 0 0
CUI: C0270742
Disease: Athetoid cerebral palsy
Athetoid cerebral palsy 		8 0 1 0.12 0 0
CUI: C0393698
Disease: Cryptogenic Infantile Spasms
Cryptogenic Infantile Spasms 		8 0 1 0.12 0 0
CUI: C0423807
Disease: Overcurvature of nail
Overcurvature of nail 		9 0 1 0.11 0 0
CUI: C1857500
Disease: Broad alveolar ridges
Broad alveolar ridges 		10 0 1 1.0E-01 0 0
CUI: C1969879
Disease: Limb joint contracture
Limb joint contracture 		10 0 1 1.0E-01 0 0
CUI: C0796250
Disease: PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME
PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME 		11 0 1 9.1E-02 0 0
CUI: C3463992
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 		12 30 1 8.3E-02 1 3.2E-02
CUI: C1848199
Disease: X-Linked Lissencephaly
X-Linked Lissencephaly 		14 0 1 7.1E-02 0 0
CUI: C4023484
Disease: Uni- and bilateral multifocal epileptiform discharges
Uni- and bilateral multifocal epileptiform discharges 		14 0 1 7.1E-02 0 0
CUI: C0020225
Disease: Hydranencephaly
Hydranencephaly 		15 0 1 6.7E-02 0 0
CUI: C4022849
Disease: Absent thumbnail
Absent thumbnail 		15 0 1 6.7E-02 0 0
CUI: C4023721
Disease: Abnormal hair pattern
Abnormal hair pattern 		15 0 1 6.7E-02 0 0
CUI: C1263023
Disease: Macroorchidism
Macroorchidism 		16 0 1 6.2E-02 0 0