Source: ALL
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: C4316903
Disease: Absence Seizures
Absence Seizures 		205 0 33 0.11 0 0
CUI: C0302511
Disease: Small for gestational age fetus
Small for gestational age fetus 		156 0 28 0.10 0 0
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion 		211 0 33 0.10 0 0
CUI: C0016202
Disease: Flatfoot
Flatfoot 		285 0 39 0.10 0 0
CUI: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		181 0 28 9.5E-02 0 0
CUI: C1853242
Disease: Midface retrusion
Midface retrusion 		228 0 31 9.2E-02 0 0
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		218 0 30 9.1E-02 0 0
CUI: C1848207
Disease: Poor speech
Poor speech 		208 0 29 9.1E-02 0 0
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures 		300 0 36 8.9E-02 0 0
CUI: C0015469
Disease: Facial paralysis
Facial paralysis 		182 0 26 8.8E-02 0 0
CUI: C1845055
Disease: ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED 		42 0 14 8.3E-02 0 0
CUI: C1865014
Disease: Long philtrum
Long philtrum 		282 0 32 8.2E-02 0 0
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		535 0 45 7.1E-02 0 0
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		340 56 32 7.1E-02 1 1.5E-02
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder 		328 49 31 7.1E-02 1 1.6E-02
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 0 46 7.0E-02 0 0
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 49 34 6.8E-02 1 1.6E-02
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		426 0 36 6.8E-02 0 0
CUI: C0152421
Disease: Macrotia
Macrotia 		188 0 20 6.5E-02 0 0
CUI: C0037822
Disease: Speech Disorders
Speech Disorders 		183 0 19 6.2E-02 0 0
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		439 617 33 6.0E-02 1 1.6E-03
CUI: C0001807
Disease: Aggressive behavior
Aggressive behavior 		176 0 18 6.0E-02 0 0
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		194 0 19 6.0E-02 0 0
CUI: C0085271
Disease: Self-Injurious Behavior
Self-Injurious Behavior 		91 0 13 5.9E-02 0 0
CUI: C0240379
Disease: Open mouth (finding)
Open mouth (finding) 		96 0 13 5.8E-02 0 0