Source: INFERRED ×
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: C1842680
Disease: Small earlobe
Small earlobe 		17 1 1 1.7E-02 1 1.00
CUI: C1857126
Disease: Parietal bossing
Parietal bossing 		7 1 1 2.1E-02 1 1.00
CUI: C4082169
Disease: Metatarsus Varus
Metatarsus Varus 		41 3 4 5.1E-02 1 0.33
CUI: C4048270
Disease: Decreased antibody level in blood
Decreased antibody level in blood 		75 5 2 1.7E-02 1 0.20
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		320 22 9 2.5E-02 1 4.5E-02
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion 		211 25 4 1.6E-02 1 4.0E-02
CUI: C3150941
Disease: RUBINSTEIN-TAYBI SYNDROME 2
RUBINSTEIN-TAYBI SYNDROME 2 		2 31 1 2.3E-02 1 3.2E-02
CUI: C1836830
Disease: Developmental regression
Developmental regression 		324 78 9 2.5E-02 1 1.3E-02
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		89 118 2 1.6E-02 1 8.5E-03
CUI: C0349588
Disease: Short stature
Short stature 		1122 292 28 2.5E-02 1 3.4E-03
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		231 0 8 3.0E-02 0 0
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		237 0 6 2.2E-02 0 0
CUI: C0000889
Disease: Acanthosis Nigricans
Acanthosis Nigricans 		38 0 1 1.3E-02 0 0
CUI: C0001403
Disease: Addison Disease
Addison Disease 		35 0 1 1.3E-02 0 0
CUI: C0001807
Disease: Aggressive behavior
Aggressive behavior 		176 0 1 4.6E-03 0 0
CUI: C0001818
Disease: Agoraphobia
Agoraphobia 		3 0 1 2.3E-02 0 0
CUI: C0002170
Disease: Alopecia
Alopecia 		261 0 6 2.0E-02 0 0
CUI: C0002418
Disease: Amblyopia
Amblyopia 		76 0 1 8.5E-03 0 0
CUI: C0002453
Disease: Amenorrhea
Amenorrhea 		29 0 1 1.4E-02 0 0
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		6 0 1 2.1E-02 0 0
CUI: C0002871
Disease: Anemia
Anemia 		308 0 2 5.7E-03 0 0
CUI: C0003126
Disease: Anosmia
Anosmia 		39 0 1 1.3E-02 0 0
CUI: C0003466
Disease: Anus, Imperforate
Anus, Imperforate 		121 0 2 1.2E-02 0 0
CUI: C0003467
Disease: Anxiety
Anxiety 		336 0 9 2.4E-02 0 0
CUI: C0003486
Disease: Aortic Aneurysm
Aortic Aneurysm 		54 0 1 1.1E-02 0 0