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 7.4E-03 0 0
CUI: C1384666
Disease: hearing impairment
hearing impairment 		88 0 1 8.3E-03 0 0
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		74 0 1 9.3E-03 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		336 579 4 1.1E-02 2 2.2E-03
CUI: C4317146
Disease: Acid reflux
Acid reflux 		50 0 1 1.2E-02 0 0
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		46 0 1 1.3E-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: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		44 0 1 1.3E-02 0 0
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		41 0 1 1.4E-02 0 0
CUI: C0349588
Disease: Short stature
Short stature 		190 292 3 1.4E-02 1 1.7E-03
CUI: C0009806
Disease: Constipation
Constipation 		40 0 1 1.4E-02 0 0
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		37 0 1 1.4E-02 0 0
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		37 0 1 1.4E-02 0 0
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		35 45 1 1.5E-02 1 2.8E-03
CUI: C0036572
Disease: Seizures
Seizures 		237 0 4 1.5E-02 0 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		303 505 5 1.5E-02 2 2.4E-03
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		33 0 1 1.5E-02 0 0
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		31 0 1 1.6E-02 0 0
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		30 0 1 1.6E-02 0 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		30 0 1 1.6E-02 0 0
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		29 0 1 1.6E-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: C1843367
Disease: Poor school performance
Poor school performance 		211 411 4 1.7E-02 1 1.4E-03
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		88 0 2 1.7E-02 0 0