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 8 2.3E-02 4 6.8E-03
CUI: C4540171
Disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE IX
3-METHYLGLUTACONIC ACIDURIA, TYPE IX 		1 0 1 3.0E-03 0 0
CUI: C4023731
Disease: 4-5 finger syndactyly
4-5 finger syndactyly 		2 0 2 6.0E-03 0 0
CUI: C2936420
Disease: 46, XX Gonadal Sex Reversal
46, XX Gonadal Sex Reversal 		1 0 1 3.0E-03 0 0
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		6 0 2 5.9E-03 0 0
CUI: C4014361
Disease: ABDOMINAL OBESITY-METABOLIC SYNDROME 3
ABDOMINAL OBESITY-METABOLIC SYNDROME 3 		2 0 1 3.0E-03 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		9 11 4 1.2E-02 3 5.1E-03
CUI: C4551519
Disease: Abducens Nerve Palsy
Abducens Nerve Palsy 		3 2 1 3.0E-03 1 1.7E-03
CUI: C4022745
Disease: Abnormal basal ganglia MRI signal intensity
Abnormal basal ganglia MRI signal intensity 		1 0 1 3.0E-03 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		16 0 8 2.3E-02 0 0
CUI: C4476566
Disease: Abnormal brain choline level by MRS
Abnormal brain choline level by MRS 		1 0 1 3.0E-03 0 0
CUI: C4476564
Disease: Abnormal brain lactate level by MRS
Abnormal brain lactate level by MRS 		1 0 1 3.0E-03 0 0
CUI: C1260922
Disease: Abnormal breathing
Abnormal breathing 		2 2 1 3.0E-03 1 1.7E-03
CUI: C4025711
Disease: Abnormal caudate nucleus morphology
Abnormal caudate nucleus morphology 		1 0 1 3.0E-03 0 0
CUI: C4022983
Disease: Abnormal ciliary motility
Abnormal ciliary motility 		4 5 2 5.9E-03 2 3.4E-03
CUI: C4021152
Disease: Abnormal CNS myelination
Abnormal CNS myelination 		3 0 1 3.0E-03 0 0
CUI: C1845274
Disease: Abnormal conjugate eye movement
Abnormal conjugate eye movement 		4 0 1 2.9E-03 0 0
CUI: C0520966
Disease: Abnormal coordination
Abnormal coordination 		3 0 1 3.0E-03 0 0
CUI: C1855670
Disease: Abnormal cornea morphology
Abnormal cornea morphology 		3 4 3 8.9E-03 3 5.2E-03
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology 		12 10 4 1.2E-02 1 1.7E-03
CUI: C1856019
Disease: Abnormal cortical gyration
Abnormal cortical gyration 		4 12 2 5.9E-03 1 1.7E-03
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		32 37 15 4.2E-02 6 9.8E-03
CUI: C4023330
Disease: Abnormal Descemet membrane morphology
Abnormal Descemet membrane morphology 		1 0 1 3.0E-03 0 0
CUI: C4020949
Disease: Abnormal emotion/affect behavior
Abnormal emotion/affect behavior 		3 13 2 5.9E-03 6 1.0E-02
CUI: C4025190
Disease: Abnormal epiglottis morphology
Abnormal epiglottis morphology 		1 1 1 3.0E-03 1 1.7E-03