Source: CURATED ×
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: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		37 31 37 0.28 5 9.4E-03
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		447 6 104 0.22 2 3.9E-03
CUI: C0036572
Disease: Seizures
Seizures 		218 417 60 0.21 138 0.18
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		15 164 15 0.11 65 0.11
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		18 62 15 0.11 28 5.2E-02
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		16 20 9 6.4E-02 8 1.5E-02
CUI: C0025958
Disease: Microcephaly
Microcephaly 		67 0 10 5.3E-02 0 0
CUI: C4022810
Disease: Abnormality of nervous system morphology
Abnormality of nervous system morphology 		10 0 7 5.1E-02 0 0
CUI: C0243050
Disease: Cardiovascular Abnormalities
Cardiovascular Abnormalities 		16 8 7 4.9E-02 3 5.9E-03
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		17 579 7 4.9E-02 88 8.8E-02
CUI: C0004134
Disease: Ataxia
Ataxia 		25 17 7 4.6E-02 5 9.7E-03
CUI: C1842364
Disease: Central hypotonia
Central hypotonia 		6 25 6 4.5E-02 11 2.1E-02
CUI: C4025846
Disease: Abnormality of vision
Abnormality of vision 		6 8 6 4.5E-02 2 3.9E-03
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		7 29 6 4.5E-02 7 1.3E-02
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		8 76 6 4.4E-02 22 3.9E-02
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system 		8 13 6 4.4E-02 3 5.8E-03
CUI: C4225275
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 40
MENTAL RETARDATION, AUTOSOMAL DOMINANT 40 		9 0 6 4.4E-02 0 0
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology 		6 10 5 3.7E-02 7 1.4E-02
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		261 181 14 3.7E-02 20 3.0E-02
CUI: C2677504
Disease: AUTISM, SUSCEPTIBILITY TO, 15
AUTISM, SUSCEPTIBILITY TO, 15 		8 0 5 3.7E-02 0 0
CUI: C4025871
Disease: Abnormality of the face
Abnormality of the face 		9 24 5 3.6E-02 16 3.1E-02
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		11 0 5 3.6E-02 0 0
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		4 21 4 3.0E-02 6 1.2E-02
CUI: C4025860
Disease: Hearing abnormality
Hearing abnormality 		4 5 4 3.0E-02 2 3.9E-03
CUI: C1866129
Disease: Abnormality of the cerebellum
Abnormality of the cerebellum 		5 11 4 3.0E-02 4 7.8E-03