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: C1839731
Disease: 11 pairs of ribs
11 pairs of ribs 		3 3 1 6.2E-02 1 5.6E-02
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		16 0 1 3.4E-02 0 0
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		32 37 1 2.2E-02 1 1.9E-02
CUI: C4023330
Disease: Abnormal Descemet membrane morphology
Abnormal Descemet membrane morphology 		1 1 1 7.1E-02 1 6.2E-02
CUI: C4021815
Disease: Abnormal palate morphology
Abnormal palate morphology 		2 2 1 6.7E-02 1 5.9E-02
CUI: C0035300
Disease: Abnormal retinal morphology
Abnormal retinal morphology 		5 8 1 5.6E-02 1 4.3E-02
CUI: C4025842
Disease: Abnormal uvea morphology
Abnormal uvea morphology 		1 1 1 7.1E-02 1 6.2E-02
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		103 0 1 8.6E-03 0 0
CUI: C1859363
Disease: Abnormality of dental eruption
Abnormality of dental eruption 		1 1 1 7.1E-02 1 6.2E-02
CUI: C4021734
Disease: Abnormality of mitochondrial metabolism
Abnormality of mitochondrial metabolism 		3 3 1 6.2E-02 1 5.6E-02
CUI: C4023165
Disease: Abnormality of skeletal morphology
Abnormality of skeletal morphology 		1 2 1 7.1E-02 1 5.9E-02
CUI: C4023518
Disease: Abnormality of skin adnexa morphology
Abnormality of skin adnexa morphology 		2 0 1 6.7E-02 0 0
CUI: C1866129
Disease: Abnormality of the cerebellum
Abnormality of the cerebellum 		8 11 2 1.0E-01 1 3.8E-02
CUI: C0262444
Disease: Abnormality of the dentition
Abnormality of the dentition 		13 16 1 3.8E-02 2 6.7E-02
CUI: C4025871
Disease: Abnormality of the face
Abnormality of the face 		9 24 1 4.5E-02 1 2.6E-02
CUI: C0744356
Disease: Abnormality of the genital system
Abnormality of the genital system 		5 0 1 5.6E-02 0 0
CUI: C4025870
Disease: Abnormality of the mandible
Abnormality of the mandible 		1 1 1 7.1E-02 1 6.2E-02
CUI: C0029131
Disease: Abnormality of the optic nerve
Abnormality of the optic nerve 		8 11 1 4.8E-02 1 3.8E-02
CUI: C0857379
Disease: Abnormality of the pinna
Abnormality of the pinna 		9 9 1 4.5E-02 1 4.2E-02
CUI: C1860493
Disease: Abnormality of the sternum
Abnormality of the sternum 		6 0 2 0.11 0 0
CUI: C4021975
Disease: Abnormality of the tonsils
Abnormality of the tonsils 		1 0 1 7.1E-02 0 0
CUI: C1854882
Disease: Absent speech
Absent speech 		46 72 4 7.1E-02 2 2.3E-02
CUI: C4317146
Disease: Acid reflux
Acid reflux 		50 58 3 4.9E-02 2 2.8E-02
CUI: C0158465
Disease: Acquired cubitus valgus
Acquired cubitus valgus 		1 1 1 7.1E-02 1 6.2E-02
CUI: C0234376
Disease: Action Tremor
Action Tremor 		1 0 1 7.1E-02 0 0