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: C1968551
Disease: Mental Retardation, X-Linked 79
Mental Retardation, X-Linked 79 		1 0 1 0.12 0 0
CUI: C1968556
Disease: ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS 		1 43 1 0.12 1 2.1E-02
CUI: C2677682
Disease: Rett Syndrome, Zappella Variant
Rett Syndrome, Zappella Variant 		1 0 1 0.12 0 0
CUI: C2749007
Disease: Chromosome Xq28 Duplication Syndrome
Chromosome Xq28 Duplication Syndrome 		1 0 1 0.12 0 0
CUI: C2931847
Disease: Type I familial incomplete male pseudohermaphroditism
Type I familial incomplete male pseudohermaphroditism 		1 0 1 0.12 0 0
CUI: C3150353
Disease: Ventral septal defect (VSD)
Ventral septal defect (VSD) 		1 0 1 0.12 0 0
CUI: C3713418
Disease: Ppm-X Syndrome
Ppm-X Syndrome 		1 0 1 0.12 0 0
CUI: C3714043
Disease: Trisomy Xq28
Trisomy Xq28 		1 0 1 0.12 0 0
CUI: C3806616
Disease: Macular hypopigmented whorls, streaks, and patches
Macular hypopigmented whorls, streaks, and patches 		1 1 1 0.12 1 0.17
CUI: C4015357
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 31
MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 		1 29 1 0.12 1 2.9E-02
CUI: C4022148
Disease: Abnormality of the dentate nucleus
Abnormality of the dentate nucleus 		1 0 1 0.12 0 0
CUI: C4022163
Disease: Abnormality of central somatosensory evoked potentials
Abnormality of central somatosensory evoked potentials 		1 0 1 0.12 0 0
CUI: C4022860
Disease: Maternal anticardiolipin antibody positive
Maternal anticardiolipin antibody positive 		1 0 1 0.12 0 0
CUI: C4024854
Disease: Irregular hyperpigmentation of back
Irregular hyperpigmentation of back 		1 1 1 0.12 1 0.17
CUI: C4025796
Disease: Abnormality of the fingertips
Abnormality of the fingertips 		1 0 1 0.12 0 0
CUI: C4225161
Disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 		1 11 1 0.12 1 6.2E-02
CUI: C4225259
Disease: SMITH-KINGSMORE SYNDROME
SMITH-KINGSMORE SYNDROME 		1 0 1 0.12 0 0
CUI: C4225667
Disease: CHROMOSOME 16p13.2 DELETION SYNDROME
CHROMOSOME 16p13.2 DELETION SYNDROME 		1 0 1 0.12 0 0
CUI: C4476709
Disease: Delayed ability to stand
Delayed ability to stand 		1 1 1 0.12 1 0.17
CUI: C4479673
Disease: FOCAL CORTICAL DYSPLASIA, TYPE II, SOMATIC
FOCAL CORTICAL DYSPLASIA, TYPE II, SOMATIC 		1 0 1 0.12 0 0
CUI: C4540199
Disease: EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1
EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1 		1 8 1 0.12 1 7.7E-02
CUI: C4551756
Disease: Waldenstrom's macroglobulinaemia refractory
Waldenstrom's macroglobulinaemia refractory 		1 0 1 0.12 0 0
CUI: C4708498
Disease: PURA syndrome
PURA syndrome 		1 0 1 0.12 0 0
CUI: C4748872
Disease: ARTHROGRYPOSIS, CLEFT PALATE, CRANIOSYNOSTOSIS, AND IMPAIRED INTELLECTUAL DEVELOPMENT
ARTHROGRYPOSIS, CLEFT PALATE, CRANIOSYNOSTOSIS, AND IMPAIRED INTELLECTUAL DEVELOPMENT 		1 0 1 0.12 0 0
CUI: C1851085
Disease: Severe expressive language delay
Severe expressive language delay 		11 7 2 0.12 2 0.18