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: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		14 0 3 6.2E-02 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		16 0 2 3.9E-02 0 0
CUI: C0520966
Disease: Abnormal coordination
Abnormal coordination 		3 4 2 5.3E-02 1 1.0E-02
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		32 37 3 4.5E-02 2 1.6E-02
CUI: C4021815
Disease: Abnormal palate morphology
Abnormal palate morphology 		2 0 1 2.6E-02 0 0
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		103 131 5 3.7E-02 1 4.5E-03
CUI: C4023408
Disease: Abnormality of mouth size
Abnormality of mouth size 		3 2 2 5.3E-02 1 1.1E-02
CUI: C4023691
Disease: Abnormality of pain sensation
Abnormality of pain sensation 		4 0 1 2.5E-02 0 0
CUI: C1832160
Disease: Abnormality of temperature regulation
Abnormality of temperature regulation 		3 3 1 2.6E-02 1 1.0E-02
CUI: C1866129
Disease: Abnormality of the cerebellum
Abnormality of the cerebellum 		8 0 2 4.7E-02 0 0
CUI: C2673431
Disease: Abnormality of the periventricular white matter
Abnormality of the periventricular white matter 		7 0 1 2.3E-02 0 0
CUI: C1860493
Disease: Abnormality of the sternum
Abnormality of the sternum 		6 0 1 2.4E-02 0 0
CUI: C4021975
Disease: Abnormality of the tonsils
Abnormality of the tonsils 		1 1 1 2.7E-02 1 1.1E-02
CUI: C0344307
Disease: Absence of pain sensation
Absence of pain sensation 		3 0 1 2.6E-02 0 0
CUI: C4316903
Disease: Absence Seizures
Absence Seizures 		5 0 1 2.4E-02 0 0
CUI: C1854882
Disease: Absent speech
Absent speech 		46 72 5 6.4E-02 2 1.2E-02
CUI: C4317146
Disease: Acid reflux
Acid reflux 		50 58 4 4.8E-02 3 2.0E-02
CUI: C0234376
Disease: Action Tremor
Action Tremor 		1 1 1 2.7E-02 1 1.1E-02
CUI: C1867971
Disease: Acute episodes of neuropathic symptoms
Acute episodes of neuropathic symptoms 		3 0 1 2.6E-02 0 0
CUI: C0001807
Disease: Aggressive behavior
Aggressive behavior 		13 0 1 2.0E-02 0 0
CUI: C1865598
Disease: Alveolar ridge overgrowth
Alveolar ridge overgrowth 		1 1 1 2.7E-02 1 1.1E-02
CUI: C0002418
Disease: Amblyopia
Amblyopia 		17 0 1 1.9E-02 0 0
CUI: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic 		5 0 1 2.4E-02 0 0
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		7 0 1 2.3E-02 0 0
CUI: C0003079
Disease: Anisocoria
Anisocoria 		4 0 1 2.5E-02 0 0