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: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0 579 0 0 2 3.0E-03
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		133 505 2 1.2E-02 8 1.4E-02
CUI: C0036572
Disease: Seizures
Seizures 		218 417 4 1.6E-02 8 1.6E-02
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0 411 0 0 6 1.2E-02
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0 392 0 0 3 6.2E-03
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		0 318 0 0 1 2.4E-03
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0 246 0 0 3 8.9E-03
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		0 208 0 0 1 3.3E-03
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0 192 0 0 1 3.5E-03
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		261 181 5 1.7E-02 2 7.3E-03
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0 164 0 0 5 2.0E-02
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0 131 0 0 1 4.5E-03
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		0 125 0 0 1 4.6E-03
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0 120 0 0 1 4.7E-03
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0 116 0 0 1 4.8E-03
CUI: C4750718
Disease: Cyclin-dependent kinase-like 5 deficiency
Cyclin-dependent kinase-like 5 deficiency 		0 116 0 0 1 4.8E-03
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		8 111 2 5.6E-02 3 1.5E-02
CUI: C0027092
Disease: Myopia
Myopia 		0 104 0 0 1 5.1E-03
CUI: C3149074
Disease: SEIZURES, BENIGN FAMILIAL NEONATAL, 1
SEIZURES, BENIGN FAMILIAL NEONATAL, 1 		0 104 0 0 1 5.1E-03
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0 93 0 0 2 1.1E-02
CUI: C3150986
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7 		0 91 0 0 6 3.4E-02
CUI: C0014544
Disease: Epilepsy
Epilepsy 		109 90 10 7.8E-02 1 5.5E-03
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0 83 0 0 2 1.1E-02
CUI: C1836830
Disease: Developmental regression
Developmental regression 		7 78 1 2.8E-02 2 1.2E-02
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		0 76 0 0 2 1.2E-02