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 39 0.10 0 0
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		393 0 39 9.9E-02 0 0
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		429 0 40 9.3E-02 0 0
CUI: C0013421
Disease: Dystonia
Dystonia 		453 0 40 8.8E-02 0 0
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		454 0 39 8.6E-02 0 0
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		477 0 40 8.4E-02 0 0
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 0 39 6.9E-02 0 0
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		580 0 40 6.9E-02 0 0
CUI: C1838023
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 3
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 3 		2 0 2 4.9E-02 0 0
CUI: C1970197
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7 		2 0 2 4.9E-02 0 0
CUI: C1970198
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6 		2 0 2 4.9E-02 0 0
CUI: C1970200
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12 		2 0 2 4.9E-02 0 0
CUI: C3151462
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 14
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 14 		2 0 2 4.9E-02 0 0
CUI: C3280265
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 18
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 18 		2 0 2 4.9E-02 0 0
CUI: C3280538
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 27
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 27 		2 0 2 4.9E-02 0 0
CUI: C3281044
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 34, WITH VARIANT LISSENCEPHALY
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 34, WITH VARIANT LISSENCEPHALY 		2 0 2 4.9E-02 0 0
CUI: C4014343
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42 		2 0 2 4.9E-02 0 0
CUI: C4014386
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 43
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 43 		2 0 2 4.9E-02 0 0
CUI: C4014745
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 44
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 44 		2 0 2 4.9E-02 0 0
CUI: C1970199
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5 		4 0 2 4.7E-02 0 0
CUI: C1855304
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 1
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 1 		8 0 2 4.3E-02 0 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 0 39 4.1E-02 0 0
CUI: C0175691
Disease: Dubowitz syndrome
Dubowitz syndrome 		12 0 2 3.9E-02 0 0
CUI: C0025958
Disease: Microcephaly
Microcephaly 		1064 0 41 3.9E-02 0 0
CUI: C0241726
Disease: Delayed ability to walk
Delayed ability to walk 		77 0 4 3.5E-02 0 0