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: C0232466
Disease: Feeding difficulties
Feeding difficulties 		18 62 6 0.22 7 3.2E-02
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		8 76 4 0.21 6 2.6E-02
CUI: C4025846
Disease: Abnormality of vision
Abnormality of vision 		6 8 3 0.17 1 5.8E-03
CUI: C2677504
Disease: AUTISM, SUSCEPTIBILITY TO, 15
AUTISM, SUSCEPTIBILITY TO, 15 		8 0 3 0.15 0 0
CUI: C0016506
Disease: Foot Deformities
Foot Deformities 		2 0 2 0.13 0 0
CUI: C0018564
Disease: Hand deformities
Hand deformities 		3 0 2 0.12 0 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		133 505 15 0.11 65 0.11
CUI: C0234398
Disease: Visual Cortex Disorder
Visual Cortex Disorder 		5 0 2 0.11 0 0
CUI: C4048268
Disease: Cortical visual impairment
Cortical visual impairment 		5 27 2 0.11 7 3.8E-02
CUI: C4225275
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 40
MENTAL RETARDATION, AUTOSOMAL DOMINANT 40 		9 0 2 9.1E-02 0 0
CUI: C0243050
Disease: Cardiovascular Abnormalities
Cardiovascular Abnormalities 		16 0 2 6.9E-02 0 0
CUI: C0038271
Disease: Stereotyped Behavior
Stereotyped Behavior 		1 0 1 6.7E-02 0 0
CUI: C0151849
Disease: Alkaline phosphatase raised
Alkaline phosphatase raised 		1 0 1 6.7E-02 0 0
CUI: C0266292
Disease: Congenital anomaly of the kidney
Congenital anomaly of the kidney 		1 0 1 6.7E-02 0 0
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		1 49 1 6.7E-02 9 4.4E-02
CUI: C1314665
Disease: Serum alkaline phosphatase raised
Serum alkaline phosphatase raised 		1 0 1 6.7E-02 0 0
CUI: C1846135
Disease: Autistic features
Autistic features 		1 0 1 6.7E-02 0 0
CUI: C3810365
Disease: Central visual impairment
Central visual impairment 		1 0 1 6.7E-02 0 0
CUI: C4539843
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 55
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 55 		1 0 1 6.7E-02 0 0
CUI: C4748137
Disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM
NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM 		1 0 1 6.7E-02 0 0
CUI: C1387925
Disease: Abnormality of limbs
Abnormality of limbs 		2 0 1 6.2E-02 0 0
CUI: C1853743
Disease: Muscular hypotonia of the trunk
Muscular hypotonia of the trunk 		2 25 1 6.2E-02 3 1.6E-02
CUI: C4021812
Disease: Abnormality of the head
Abnormality of the head 		2 0 1 6.2E-02 0 0
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		2 0 1 6.2E-02 0 0
CUI: C4025860
Disease: Hearing abnormality
Hearing abnormality 		4 5 1 5.6E-02 1 6.0E-03