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: C0003076
Disease: Aniridia
Aniridia 		2 0 1 3.0E-02 0 0
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		15 0 1 2.2E-02 0 0
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		11 0 1 2.4E-02 0 0
CUI: C0009806
Disease: Constipation
Constipation 		40 0 1 1.4E-02 0 0
CUI: C0010200
Disease: Coughing
Coughing 		6 0 1 2.7E-02 0 0
CUI: C0010606
Disease: Adenoid Cystic Carcinoma
Adenoid Cystic Carcinoma 		11 0 1 2.4E-02 0 0
CUI: C0013132
Disease: Drooling
Drooling 		14 0 1 2.2E-02 0 0
CUI: C0013404
Disease: Dyspnea
Dyspnea 		18 0 1 2.0E-02 0 0
CUI: C0013595
Disease: Eczema
Eczema 		15 0 1 2.2E-02 0 0
CUI: C0014877
Disease: Esotropia
Esotropia 		33 0 1 1.6E-02 0 0
CUI: C0017668
Disease: Focal glomerulosclerosis
Focal glomerulosclerosis 		6 0 1 2.7E-02 0 0
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		37 0 1 1.5E-02 0 0
CUI: C0020490
Disease: Hyperopia
Hyperopia 		16 0 1 2.1E-02 0 0
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		63 0 1 1.1E-02 0 0
CUI: C0023798
Disease: Lipoma
Lipoma 		5 0 1 2.8E-02 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		336 0 4 1.1E-02 0 0
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome 		6 0 1 2.7E-02 0 0
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		19 0 1 2.0E-02 0 0
CUI: C0042963
Disease: Vomiting
Vomiting 		9 0 1 2.5E-02 0 0
CUI: C0085583
Disease: Choreoathetosis
Choreoathetosis 		6 0 1 2.7E-02 0 0
CUI: C0085639
Disease: Falls
Falls 		3 0 1 2.9E-02 0 0
CUI: C0086437
Disease: Joint laxity
Joint laxity 		14 0 1 2.2E-02 0 0
CUI: C0151526
Disease: Premature Birth
Premature Birth 		35 0 1 1.5E-02 0 0
CUI: C0152415
Disease: Ankyloglossia
Ankyloglossia 		2 0 1 3.0E-02 0 0
CUI: C0155299
Disease: Coloboma of optic disc
Coloboma of optic disc 		6 0 1 2.7E-02 0 0