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 2 1.0E-02 2 6.8E-03
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		14 16 4 2.0E-02 3 9.8E-03
CUI: C4023731
Disease: 4-5 finger syndactyly
4-5 finger syndactyly 		2 0 1 5.2E-03 0 0
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		6 0 1 5.1E-03 0 0
CUI: C4014361
Disease: ABDOMINAL OBESITY-METABOLIC SYNDROME 3
ABDOMINAL OBESITY-METABOLIC SYNDROME 3 		2 0 1 5.2E-03 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		9 11 1 5.1E-03 1 3.3E-03
CUI: C4551519
Disease: Abducens Nerve Palsy
Abducens Nerve Palsy 		3 0 1 5.2E-03 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		16 19 2 9.8E-03 2 6.5E-03
CUI: C2132198
Disease: Abnormal blistering of the skin
Abnormal blistering of the skin 		4 10 2 1.0E-02 4 1.3E-02
CUI: C4025844
Disease: Abnormal chorioretinal morphology
Abnormal chorioretinal morphology 		1 0 1 5.3E-03 0 0
CUI: C4021152
Disease: Abnormal CNS myelination
Abnormal CNS myelination 		3 4 1 5.2E-03 1 3.4E-03
CUI: C4025858
Disease: Abnormal cochlea morphology
Abnormal cochlea morphology 		1 1 1 5.3E-03 1 3.4E-03
CUI: C1845274
Disease: Abnormal conjugate eye movement
Abnormal conjugate eye movement 		4 5 3 1.6E-02 2 6.8E-03
CUI: C1855670
Disease: Abnormal cornea morphology
Abnormal cornea morphology 		3 4 2 1.0E-02 3 1.0E-02
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology 		12 10 1 5.0E-03 1 3.3E-03
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		32 37 8 3.7E-02 5 1.5E-02
CUI: C4023330
Disease: Abnormal Descemet membrane morphology
Abnormal Descemet membrane morphology 		1 1 1 5.3E-03 1 3.4E-03
CUI: C4020949
Disease: Abnormal emotion/affect behavior
Abnormal emotion/affect behavior 		3 13 1 5.2E-03 1 3.3E-03
CUI: C4021803
Disease: Abnormal eyelid morphology
Abnormal eyelid morphology 		3 3 1 5.2E-03 1 3.4E-03
CUI: C4023721
Disease: Abnormal hair pattern
Abnormal hair pattern 		1 0 1 5.3E-03 0 0
CUI: C4022855
Disease: Abnormal involuntary eye movements
Abnormal involuntary eye movements 		2 0 1 5.2E-03 0 0
CUI: C4021810
Disease: Abnormal location of ears
Abnormal location of ears 		1 1 1 5.3E-03 1 3.4E-03
CUI: C4520679
Disease: Abnormal macular morphology
Abnormal macular morphology 		1 0 1 5.3E-03 0 0
CUI: C4023359
Disease: Abnormal maternal serum screening
Abnormal maternal serum screening 		1 0 1 5.3E-03 0 0
CUI: C4022764
Disease: Abnormal metabolic brain imaging by MRS
Abnormal metabolic brain imaging by MRS 		1 2 1 5.3E-03 2 6.8E-03