Source: CLINVAR ×
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: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		103 0 1 7.2E-03 0 0
CUI: C0036572
Disease: Seizures
Seizures 		237 0 2 7.4E-03 0 0
CUI: C1384666
Disease: hearing impairment
hearing impairment 		88 0 1 8.1E-03 0 0
CUI: C0028738
Disease: Nystagmus
Nystagmus 		62 83 1 1.0E-02 1 3.4E-03
CUI: C0025990
Disease: Micrognathism
Micrognathism 		46 0 1 1.2E-02 0 0
CUI: C1854882
Disease: Absent speech
Absent speech 		46 0 1 1.2E-02 0 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		128 164 2 1.2E-02 1 2.7E-03
CUI: C0027092
Disease: Myopia
Myopia 		45 0 1 1.2E-02 0 0
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		45 0 1 1.2E-02 0 0
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		124 0 2 1.3E-02 0 0
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		43 0 1 1.3E-02 0 0
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		43 0 1 1.3E-02 0 0
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		43 0 1 1.3E-02 0 0
CUI: C0009806
Disease: Constipation
Constipation 		40 0 1 1.3E-02 0 0
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		39 0 1 1.3E-02 0 0
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		39 0 1 1.3E-02 0 0
CUI: C1836830
Disease: Developmental regression
Developmental regression 		39 0 1 1.3E-02 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		336 579 5 1.4E-02 4 5.1E-03
CUI: C0013362
Disease: Dysarthria
Dysarthria 		34 0 1 1.4E-02 0 0
CUI: C0456070
Disease: Growth delay
Growth delay 		31 40 1 1.5E-02 1 4.0E-03
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		30 0 1 1.5E-02 0 0
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		28 0 1 1.6E-02 0 0
CUI: C1837142
Disease: Poor suck
Poor suck 		28 0 1 1.6E-02 0 0
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		26 0 1 1.6E-02 0 0
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		88 0 2 1.6E-02 0 0