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: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		2 0 2 0.40 0 0
CUI: C1854301
Disease: Motor delay
Motor delay 		3 34 2 0.33 12 5.6E-02
CUI: C4020869
Disease: Abnormality of abdomen morphology
Abnormality of abdomen morphology 		1 0 1 0.20 0 0
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		8 76 2 0.18 17 6.8E-02
CUI: C1866129
Disease: Abnormality of the cerebellum
Abnormality of the cerebellum 		5 11 1 0.11 1 5.0E-03
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		16 20 2 0.11 5 2.4E-02
CUI: C1842364
Disease: Central hypotonia
Central hypotonia 		6 25 1 1.0E-01 2 9.3E-03
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology 		6 10 1 1.0E-01 1 5.0E-03
CUI: C0009806
Disease: Constipation
Constipation 		7 49 1 9.1E-02 10 4.3E-02
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		7 29 1 9.1E-02 6 2.8E-02
CUI: C4225275
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 40
MENTAL RETARDATION, AUTOSOMAL DOMINANT 40 		9 0 1 7.7E-02 0 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		15 164 1 5.3E-02 25 7.6E-02
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		24 208 1 3.6E-02 8 2.0E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		133 505 2 1.5E-02 81 0.13
CUI: C0025958
Disease: Microcephaly
Microcephaly 		67 0 1 1.4E-02 0 0
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		447 0 5 1.1E-02 0 0
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		93 0 1 1.0E-02 0 0
CUI: C0086743
Disease: Osteoarthrosis Deformans
Osteoarthrosis Deformans 		93 0 1 1.0E-02 0 0
CUI: C0036572
Disease: Seizures
Seizures 		218 417 2 9.0E-03 50 8.9E-02
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		0 11 0 0 1 5.0E-03
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0 350 0 0 1 1.8E-03
CUI: C0001807
Disease: Aggressive behavior
Aggressive behavior 		0 22 0 0 6 2.9E-02
CUI: C0002418
Disease: Amblyopia
Amblyopia 		0 27 0 0 8 3.8E-02
CUI: C0003079
Disease: Anisocoria
Anisocoria 		0 5 0 0 2 1.0E-02
CUI: C0003466
Disease: Anus, Imperforate
Anus, Imperforate 		0 8 0 0 1 5.0E-03