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: C4317146
Disease: Acid reflux
Acid reflux 		50 58 11 0.11 9 5.5E-02
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 411 26 0.10 32 6.5E-02
CUI: C1848395
Disease: Large for gestational age
Large for gestational age 		43 10 9 9.2E-02 2 1.6E-02
CUI: C3150613
Disease: Long toe
Long toe 		24 8 7 8.6E-02 1 8.1E-03
CUI: C1849265
Disease: Overgrowth
Overgrowth 		103 93 13 8.4E-02 5 2.5E-02
CUI: C0241240
Disease: Tall stature
Tall stature 		79 14 11 8.3E-02 8 6.6E-02
CUI: C1844577
Disease: Hyperextensibility of the finger joints
Hyperextensibility of the finger joints 		18 5 6 7.9E-02 1 8.3E-03
CUI: C1865285
Disease: Megalencephaly cutis marmorata telangiectatica congenita
Megalencephaly cutis marmorata telangiectatica congenita 		18 18 6 7.9E-02 2 1.5E-02
CUI: C0239676
Disease: High forehead
High forehead 		211 17 20 7.8E-02 2 1.5E-02
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 49 33 7.8E-02 6 3.8E-02
CUI: C1857953
Disease: Deep plantar creases
Deep plantar creases 		19 6 6 7.8E-02 3 2.5E-02
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		47 27 8 7.8E-02 1 7.0E-03
CUI: C4054546
Disease: Melanocortin 4 Receptor Deficiency
Melanocortin 4 Receptor Deficiency 		24 28 6 7.3E-02 7 5.1E-02
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		439 617 34 7.2E-02 3 4.1E-03
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		251 350 21 7.1E-02 2 4.3E-03
CUI: C0153574
Disease: Malignant Uterine Corpus Neoplasm
Malignant Uterine Corpus Neoplasm 		26 152 6 7.1E-02 4 1.5E-02
CUI: C0019322
Disease: Umbilical hernia
Umbilical hernia 		27 17 6 7.1E-02 3 2.3E-02
CUI: C1142533
Disease: Smooth philtrum
Smooth philtrum 		105 10 11 7.0E-02 1 8.0E-03
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		367 10 28 6.9E-02 2 1.6E-02
CUI: C1837260
Disease: Prominent forehead
Prominent forehead 		159 25 14 6.7E-02 3 2.2E-02
CUI: C0240379
Disease: Open mouth (finding)
Open mouth (finding) 		96 11 10 6.7E-02 2 1.6E-02
CUI: C1844809
Disease: Thick nasal alae
Thick nasal alae 		17 0 5 6.6E-02 0 0
CUI: C0236018
Disease: Aura
Aura 		83 0 9 6.5E-02 0 0
CUI: C0751111
Disease: Awakening Epilepsy
Awakening Epilepsy 		83 0 9 6.5E-02 0 0
CUI: C1849089
Disease: Broad forehead
Broad forehead 		133 13 12 6.5E-02 2 1.6E-02