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 1 3.0E-03 0 0
CUI: C0349588
Disease: Short stature
Short stature 		190 292 1 5.2E-03 1 3.4E-03
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		336 579 3 8.9E-03 3 5.2E-03
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		237 0 3 1.3E-02 0 0
CUI: C0028738
Disease: Nystagmus
Nystagmus 		62 83 1 1.6E-02 1 1.2E-02
CUI: C4317146
Disease: Acid reflux
Acid reflux 		50 58 1 1.9E-02 1 1.7E-02
CUI: C0025990
Disease: Micrognathism
Micrognathism 		46 52 1 2.1E-02 1 1.9E-02
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		45 62 1 2.1E-02 1 1.6E-02
CUI: C0009806
Disease: Constipation
Constipation 		40 49 1 2.4E-02 1 2.0E-02
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		37 39 1 2.6E-02 1 2.4E-02
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		63 0 2 3.1E-02 0 0
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		63 0 2 3.1E-02 0 0
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		30 46 1 3.1E-02 1 2.1E-02
CUI: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		28 34 1 3.3E-02 1 2.8E-02
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		28 54 1 3.3E-02 1 1.8E-02
CUI: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile 		22 27 1 4.2E-02 1 3.4E-02
CUI: C0027092
Disease: Myopia
Myopia 		45 52 2 4.3E-02 2 3.8E-02
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear 		21 23 1 4.3E-02 1 4.0E-02
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		45 0 2 4.3E-02 0 0
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		43 0 2 4.5E-02 0 0
CUI: C0520679
Disease: Sleep Apnea, Obstructive
Sleep Apnea, Obstructive 		19 23 1 4.8E-02 1 4.0E-02
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		39 59 2 5.0E-02 2 3.3E-02
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		18 22 1 5.0E-02 1 4.2E-02
CUI: C0015310
Disease: Exotropia
Exotropia 		17 21 1 5.3E-02 1 4.3E-02
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		37 0 2 5.3E-02 0 0