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 		335 611 1 2.7E-03 2 2.0E-03
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		237 350 1 3.7E-03 3 4.0E-03
CUI: C0036572
Disease: Seizures
Seizures 		237 0 1 3.7E-03 0 0
CUI: C0349588
Disease: Short stature
Short stature 		190 292 1 4.4E-03 1 1.4E-03
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		162 0 1 5.1E-03 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		336 579 2 5.4E-03 1 1.0E-03
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		103 0 1 7.2E-03 0 0
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		88 0 1 8.1E-03 0 0
CUI: C1849265
Disease: Overgrowth
Overgrowth 		81 93 1 8.6E-03 1 2.0E-03
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		78 0 1 8.8E-03 0 0
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		64 116 1 1.0E-02 2 3.9E-03
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		63 92 1 1.0E-02 2 4.1E-03
CUI: C4317146
Disease: Acid reflux
Acid reflux 		50 58 1 1.2E-02 2 4.4E-03
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		46 66 1 1.2E-02 2 4.3E-03
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		43 0 1 1.3E-02 0 0
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		37 0 1 1.4E-02 0 0
CUI: C0151526
Disease: Premature Birth
Premature Birth 		35 40 1 1.4E-02 2 4.5E-03
CUI: C4281993
Disease: Neonatal respiratory distress
Neonatal respiratory distress 		31 34 1 1.5E-02 1 2.3E-03
CUI: C0016202
Disease: Flatfoot
Flatfoot 		30 38 1 1.5E-02 1 2.3E-03
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		30 0 1 1.5E-02 0 0
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		26 175 1 1.6E-02 3 5.2E-03
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy 		25 0 1 1.7E-02 0 0
CUI: C4054546
Disease: Melanocortin 4 Receptor Deficiency
Melanocortin 4 Receptor Deficiency 		24 28 1 1.7E-02 2 4.7E-03
CUI: C0022680
Disease: Polycystic Kidney Diseases
Polycystic Kidney Diseases 		21 0 1 1.8E-02 0 0
CUI: C0018681
Disease: Headache
Headache 		19 23 1 1.9E-02 2 4.7E-03