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: C0432072
Disease: Dysmorphic features
Dysmorphic features 		335 0 2 5.5E-03 0 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		303 0 2 6.1E-03 0 0
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		237 0 1 3.8E-03 0 0
CUI: C0349588
Disease: Short stature
Short stature 		190 292 3 1.4E-02 2 5.8E-03
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		128 0 1 6.4E-03 0 0
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		88 0 1 8.6E-03 0 0
CUI: C1849265
Disease: Overgrowth
Overgrowth 		81 0 1 9.2E-03 0 0
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		78 0 1 9.4E-03 0 0
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		64 0 1 1.1E-02 0 0
CUI: C4317146
Disease: Acid reflux
Acid reflux 		50 0 1 1.3E-02 0 0
CUI: C0025990
Disease: Micrognathism
Micrognathism 		46 0 1 1.4E-02 0 0
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		45 0 2 2.8E-02 0 0
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		43 0 1 1.4E-02 0 0
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		39 44 2 3.0E-02 1 1.0E-02
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		37 0 1 1.5E-02 0 0
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		31 0 1 1.7E-02 0 0
CUI: C0456070
Disease: Growth delay
Growth delay 		31 0 1 1.7E-02 0 0
CUI: C4281993
Disease: Neonatal respiratory distress
Neonatal respiratory distress 		31 0 1 1.7E-02 0 0
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		28 74 1 1.8E-02 1 7.7E-03
CUI: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		28 0 1 1.8E-02 0 0
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		27 70 1 1.8E-02 1 7.9E-03
CUI: C2267233
Disease: Neonatal Hypotonia
Neonatal Hypotonia 		27 0 1 1.8E-02 0 0
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios 		25 0 1 1.9E-02 0 0
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy 		25 0 1 1.9E-02 0 0
CUI: C0575802
Disease: Small hand
Small hand 		24 0 1 1.9E-02 0 0