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: C0007097
Disease: Carcinoma
Carcinoma 		0 15 0 0 4 3.7E-02
CUI: C0279606
Disease: Childhood Hepatocellular Carcinoma
Childhood Hepatocellular Carcinoma 		0 3 0 0 1 1.0E-02
CUI: C1378703
Disease: Renal carcinoma
Renal carcinoma 		0 8 0 0 1 9.5E-03
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		128 0 1 6.5E-03 0 0
CUI: C0036572
Disease: Seizures
Seizures 		237 0 2 7.7E-03 0 0
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		88 106 1 8.8E-03 2 9.9E-03
CUI: C1384666
Disease: hearing impairment
hearing impairment 		88 0 1 8.8E-03 0 0
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		54 0 1 1.3E-02 0 0
CUI: C4317146
Disease: Acid reflux
Acid reflux 		50 58 1 1.3E-02 2 1.3E-02
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		124 0 2 1.4E-02 0 0
CUI: C1854882
Disease: Absent speech
Absent speech 		46 0 1 1.4E-02 0 0
CUI: C0027092
Disease: Myopia
Myopia 		45 0 1 1.4E-02 0 0
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		44 0 1 1.4E-02 0 0
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		44 0 1 1.4E-02 0 0
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		43 0 1 1.5E-02 0 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		303 505 5 1.5E-02 3 5.0E-03
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		39 0 1 1.6E-02 0 0
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		39 0 1 1.6E-02 0 0
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		37 49 1 1.6E-02 1 6.8E-03
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		37 43 1 1.6E-02 2 1.4E-02
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 0 3 1.6E-02 0 0
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		35 0 1 1.7E-02 0 0
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		35 0 1 1.7E-02 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		336 579 6 1.7E-02 3 4.5E-03
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		335 0 6 1.7E-02 0 0