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 16 1 2.2E-02 1 1.9E-02
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		6 6 1 2.7E-02 1 2.4E-02
CUI: C4551519
Disease: Abducens Nerve Palsy
Abducens Nerve Palsy 		3 0 1 2.9E-02 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		16 19 1 2.1E-02 1 1.8E-02
CUI: C1845274
Disease: Abnormal conjugate eye movement
Abnormal conjugate eye movement 		4 5 3 9.1E-02 1 2.4E-02
CUI: C0520966
Disease: Abnormal coordination
Abnormal coordination 		3 4 1 2.9E-02 1 2.5E-02
CUI: C1855670
Disease: Abnormal cornea morphology
Abnormal cornea morphology 		3 4 2 6.1E-02 2 5.1E-02
CUI: C4025190
Disease: Abnormal epiglottis morphology
Abnormal epiglottis morphology 		1 1 1 3.1E-02 1 2.7E-02
CUI: C4721383
Disease: Abnormal esophagus morphology
Abnormal esophagus morphology 		1 1 1 3.1E-02 1 2.7E-02
CUI: C4023359
Disease: Abnormal maternal serum screening
Abnormal maternal serum screening 		1 1 1 3.1E-02 1 2.7E-02
CUI: C0852413
Disease: Abnormal muscle tone
Abnormal muscle tone 		7 7 3 8.3E-02 3 7.3E-02
CUI: C4021098
Disease: Abnormal natural killer cell morphology
Abnormal natural killer cell morphology 		1 1 1 3.1E-02 1 2.7E-02
CUI: C0497202
Disease: Abnormal ocular motility
Abnormal ocular motility 		6 0 1 2.7E-02 0 0
CUI: C0231471
Disease: Abnormal posture
Abnormal posture 		7 0 1 2.6E-02 0 0
CUI: C1970591
Disease: Abnormal pupillary light reflex
Abnormal pupillary light reflex 		1 1 1 3.1E-02 1 2.7E-02
CUI: C1859347
Disease: Abnormal subcutaneous fat tissue distribution
Abnormal subcutaneous fat tissue distribution 		2 2 2 6.2E-02 1 2.6E-02
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		103 131 3 2.3E-02 1 6.0E-03
CUI: C1850601
Disease: Abnormality of brainstem morphology
Abnormality of brainstem morphology 		2 0 1 3.0E-02 0 0
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		9 0 1 2.5E-02 0 0
CUI: C4025596
Disease: Abnormality of connective tissue
Abnormality of connective tissue 		3 0 1 2.9E-02 0 0
CUI: C4023689
Disease: Abnormality of copper homeostasis
Abnormality of copper homeostasis 		2 2 1 3.0E-02 1 2.6E-02
CUI: C4073265
Disease: Abnormality of inferior oblique extraocular muscle
Abnormality of inferior oblique extraocular muscle 		1 1 1 3.1E-02 1 2.7E-02
CUI: C4021734
Disease: Abnormality of mitochondrial metabolism
Abnormality of mitochondrial metabolism 		3 3 1 2.9E-02 1 2.6E-02
CUI: C4073241
Disease: Abnormality of nasopharyngeal adenoids
Abnormality of nasopharyngeal adenoids 		1 1 1 3.1E-02 1 2.7E-02
CUI: C4020847
Disease: Abnormality of pelvic girdle bone morphology
Abnormality of pelvic girdle bone morphology 		3 5 1 2.9E-02 2 5.0E-02