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: C0241654
Disease: Abnormal heart valve morphology
Abnormal heart valve morphology 		1 0 1 1.00 0 0
CUI: C1802395
Disease: Congenital muscular hypertrophy-cerebral syndrome
Congenital muscular hypertrophy-cerebral syndrome 		1 49 1 1.00 1 2.0E-02
CUI: C3552501
Disease: Talus valgus
Talus valgus 		1 1 1 1.00 1 1.00
CUI: C1834405
Disease: Nail dysplasia
Nail dysplasia 		2 2 1 0.50 1 0.50
CUI: C1854630
Disease: Growth Deficiency and Mental Retardation with Facial Dysmorphism
Growth Deficiency and Mental Retardation with Facial Dysmorphism 		3 0 1 0.33 0 0
CUI: C0018536
Disease: Hallux Valgus
Hallux Valgus 		5 6 1 0.20 1 0.17
CUI: C1737329
Disease: Dysmorphism
Dysmorphism 		6 9 1 0.17 1 0.11
CUI: C1853487
Disease: Thick eyebrow
Thick eyebrow 		9 0 1 0.11 0 0
CUI: C0019572
Disease: Hirsutism
Hirsutism 		12 13 1 8.3E-02 1 7.7E-02
CUI: C1843156
Disease: Progressive sensorineural hearing impairment
Progressive sensorineural hearing impairment 		17 0 1 5.9E-02 0 0
CUI: C3887873
Disease: Hearing Loss
Hearing Loss 		18 61 1 5.6E-02 1 1.6E-02
CUI: C0431447
Disease: Synophrys
Synophrys 		19 23 1 5.3E-02 1 4.3E-02
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia 		20 21 1 5.0E-02 1 4.8E-02
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		39 0 1 2.6E-02 0 0
CUI: C4317146
Disease: Acid reflux
Acid reflux 		50 58 1 2.0E-02 1 1.7E-02
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 246 1 6.3E-03 1 4.1E-03
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		162 240 1 6.2E-03 1 4.2E-03
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 411 1 4.7E-03 1 2.4E-03
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		237 0 1 4.2E-03 0 0
CUI: C0036572
Disease: Seizures
Seizures 		237 0 1 4.2E-03 0 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		303 0 1 3.3E-03 0 0
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		335 611 1 3.0E-03 1 1.6E-03
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		336 579 1 3.0E-03 1 1.7E-03