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: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome 		31 2 1 3.1E-02 1 8.3E-02
CUI: C2675021
Disease: Narrow palpebral fissure
Narrow palpebral fissure 		34 0 1 2.9E-02 0 0
CUI: C1456784
Disease: Paranoia
Paranoia 		35 0 1 2.8E-02 0 0
CUI: C0031900
Disease: Pierre Robin Syndrome
Pierre Robin Syndrome 		39 0 1 2.5E-02 0 0
CUI: C2986717
Disease: Anti-N-Methyl-D-Aspartate Receptor Encephalitis
Anti-N-Methyl-D-Aspartate Receptor Encephalitis 		43 0 1 2.3E-02 0 0
CUI: C0546967
Disease: Posterior embryotoxon
Posterior embryotoxon 		44 0 1 2.2E-02 0 0
CUI: C1855496
Disease: Contiguous gene syndrome
Contiguous gene syndrome 		52 0 1 1.9E-02 0 0
CUI: C0201874
Disease: Amino acids measurement
Amino acids measurement 		53 0 1 1.9E-02 0 0
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		111 0 2 1.8E-02 0 0
CUI: C1302790
Disease: Congenital malformation syndrome
Congenital malformation syndrome 		57 0 1 1.7E-02 0 0
CUI: C0018564
Disease: Hand deformities
Hand deformities 		60 0 1 1.6E-02 0 0
CUI: C0024591
Disease: Malignant hyperpyrexia due to anesthesia
Malignant hyperpyrexia due to anesthesia 		60 0 1 1.6E-02 0 0
CUI: C0004930
Disease: Behavior Disorders
Behavior Disorders 		77 0 1 1.3E-02 0 0
CUI: C1834055
Disease: Underdeveloped nasal alae
Underdeveloped nasal alae 		79 0 1 1.3E-02 0 0
CUI: C0001807
Disease: Aggressive behavior
Aggressive behavior 		176 0 2 1.1E-02 0 0
CUI: C1862389
Disease: ATRIAL SEPTAL DEFECT 1
ATRIAL SEPTAL DEFECT 1 		91 0 1 1.1E-02 0 0
CUI: C0566620
Disease: Nasal voice
Nasal voice 		93 0 1 1.1E-02 0 0
CUI: C0240379
Disease: Open mouth (finding)
Open mouth (finding) 		96 0 1 1.0E-02 0 0
CUI: C0005744
Disease: Blepharophimosis
Blepharophimosis 		106 0 1 9.3E-03 0 0
CUI: C0240543
Disease: Bulbous nose
Bulbous nose 		123 0 1 8.1E-03 0 0
CUI: C0036337
Disease: Schizoaffective Disorder
Schizoaffective Disorder 		126 0 1 7.9E-03 0 0
CUI: C0239998
Disease: Recurrent infections
Recurrent infections 		127 0 1 7.8E-03 0 0
CUI: C0038271
Disease: Stereotyped Behavior
Stereotyped Behavior 		135 0 1 7.4E-03 0 0
CUI: C0266589
Disease: Congenital ear anomaly NOS (disorder)
Congenital ear anomaly NOS (disorder) 		137 0 1 7.2E-03 0 0
CUI: C4025790
Disease: Specific learning disability
Specific learning disability 		165 0 1 6.0E-03 0 0