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 1.6E-02 1 5.2E-03
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		14 16 4 3.0E-02 1 4.8E-03
CUI: C4023731
Disease: 4-5 finger syndactyly
4-5 finger syndactyly 		2 0 1 8.0E-03 0 0
CUI: C1838099
Disease: ABCD syndrome
ABCD syndrome 		1 0 1 8.1E-03 0 0
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		6 0 1 7.8E-03 0 0
CUI: C4014361
Disease: ABDOMINAL OBESITY-METABOLIC SYNDROME 3
ABDOMINAL OBESITY-METABOLIC SYNDROME 3 		2 0 1 8.0E-03 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		9 11 3 2.3E-02 1 5.0E-03
CUI: C4551519
Disease: Abducens Nerve Palsy
Abducens Nerve Palsy 		3 2 3 2.4E-02 1 5.2E-03
CUI: C0522216
Disease: Abnormal auditory evoked potential
Abnormal auditory evoked potential 		1 0 1 8.1E-03 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		16 19 9 6.9E-02 5 2.4E-02
CUI: C4476564
Disease: Abnormal brain lactate level by MRS
Abnormal brain lactate level by MRS 		1 1 1 8.1E-03 1 5.2E-03
CUI: C4021152
Disease: Abnormal CNS myelination
Abnormal CNS myelination 		3 0 2 1.6E-02 0 0
CUI: C1845274
Disease: Abnormal conjugate eye movement
Abnormal conjugate eye movement 		4 5 3 2.4E-02 1 5.1E-03
CUI: C0520966
Disease: Abnormal coordination
Abnormal coordination 		3 0 1 7.9E-03 0 0
CUI: C1855670
Disease: Abnormal cornea morphology
Abnormal cornea morphology 		3 4 1 7.9E-03 1 5.1E-03
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology 		12 10 2 1.5E-02 1 5.0E-03
CUI: C1856019
Disease: Abnormal cortical gyration
Abnormal cortical gyration 		4 12 2 1.6E-02 1 4.9E-03
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		32 37 9 6.1E-02 8 3.6E-02
CUI: C4020949
Disease: Abnormal emotion/affect behavior
Abnormal emotion/affect behavior 		3 13 2 1.6E-02 10 5.1E-02
CUI: C4018849
Disease: Abnormal fear/anxiety-related behavior
Abnormal fear/anxiety-related behavior 		2 7 1 8.0E-03 3 1.5E-02
CUI: C4022855
Disease: Abnormal involuntary eye movements
Abnormal involuntary eye movements 		2 0 1 8.0E-03 0 0
CUI: C4021810
Disease: Abnormal location of ears
Abnormal location of ears 		1 1 1 8.1E-03 1 5.2E-03
CUI: C4021546
Disease: Abnormal mitochondria in muscle tissue
Abnormal mitochondria in muscle tissue 		2 0 1 8.0E-03 0 0
CUI: C4025759
Disease: Abnormal mitral valve morphology
Abnormal mitral valve morphology 		1 0 1 8.1E-03 0 0
CUI: C0852413
Disease: Abnormal muscle tone
Abnormal muscle tone 		7 7 4 3.1E-02 4 2.1E-02