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: C0152419
Disease: Interrupted aortic arch
Interrupted aortic arch 		0 1 0 0 1 3.6E-02
CUI: C2673630
Disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5 (disorder)
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5 (disorder) 		0 2 0 0 1 3.4E-02
CUI: C3280795
Disease: HYPOPLASTIC LEFT HEART SYNDROME 2
HYPOPLASTIC LEFT HEART SYNDROME 2 		0 1 0 0 1 3.6E-02
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		162 0 1 5.6E-03 0 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		303 0 2 6.3E-03 0 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		128 0 1 6.9E-03 0 0
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		124 0 1 7.1E-03 0 0
CUI: C0036572
Disease: Seizures
Seizures 		237 417 2 7.9E-03 1 2.3E-03
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		103 0 1 8.3E-03 0 0
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 411 2 8.8E-03 1 2.3E-03
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		89 0 1 9.4E-03 0 0
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		74 0 1 1.1E-02 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		336 0 4 1.1E-02 0 0
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		335 0 4 1.1E-02 0 0
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		67 0 1 1.2E-02 0 0
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		63 0 1 1.3E-02 0 0
CUI: C0239234
Disease: Low set ears
Low set ears 		56 0 1 1.4E-02 0 0
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		237 0 4 1.6E-02 0 0
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		45 0 1 1.6E-02 0 0
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		45 0 1 1.6E-02 0 0
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		44 0 1 1.6E-02 0 0
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		43 0 1 1.7E-02 0 0
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		43 0 1 1.7E-02 0 0
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 246 3 1.7E-02 2 7.4E-03
CUI: C0009806
Disease: Constipation
Constipation 		40 49 1 1.8E-02 1 1.3E-02