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: C1854301
Disease: Motor delay
Motor delay 		384 0 40 0.10 0 0
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		454 44 46 1.0E-01 2 3.9E-02
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		393 0 39 9.6E-02 0 0
CUI: C0013421
Disease: Dystonia
Dystonia 		453 97 44 9.5E-02 1 9.5E-03
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		429 0 41 9.3E-02 0 0
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		477 0 44 9.1E-02 0 0
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 192 45 7.9E-02 1 5.0E-03
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		580 0 44 7.5E-02 0 0
CUI: C1838391
Disease: Limb hypertonia
Limb hypertonia 		77 12 7 5.7E-02 2 0.11
CUI: C1857704
Disease: Abnormal myelination
Abnormal myelination 		49 0 5 5.2E-02 0 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 0 48 5.0E-02 0 0
CUI: C0241816
Disease: Global brain atrophy
Global brain atrophy 		41 0 4 4.5E-02 0 0
CUI: C4023687
Disease: EEG with multifocal slow activity
EEG with multifocal slow activity 		41 2 4 4.5E-02 1 1.0E-01
CUI: C1854882
Disease: Absent speech
Absent speech 		232 72 12 4.4E-02 1 1.3E-02
CUI: C0025958
Disease: Microcephaly
Microcephaly 		1064 0 47 4.4E-02 0 0
CUI: C1853743
Disease: Muscular hypotonia of the trunk
Muscular hypotonia of the trunk 		156 25 8 4.0E-02 2 6.2E-02
CUI: C4021759
Disease: Generalized myoclonic seizures
Generalized myoclonic seizures 		105 8 6 4.0E-02 1 6.2E-02
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		187 0 9 3.9E-02 0 0
CUI: C1838023
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 3
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 3 		2 0 2 3.8E-02 0 0
CUI: C1970197
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7 		2 0 2 3.8E-02 0 0
CUI: C1970198
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6 		2 0 2 3.8E-02 0 0
CUI: C1970200
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12 		2 0 2 3.8E-02 0 0
CUI: C3151462
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 14
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 14 		2 0 2 3.8E-02 0 0
CUI: C3280265
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 18
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 18 		2 0 2 3.8E-02 0 0
CUI: C3280538
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 27
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 27 		2 0 2 3.8E-02 0 0