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: C0004096
Disease: Asthma
Asthma 		18 19 1 2.0E-02 1 1.3E-02
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		43 443 1 1.4E-02 1 2.0E-03
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: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		31 38 1 1.6E-02 2 2.1E-02
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: C0014544
Disease: Epilepsy
Epilepsy 		32 36 1 1.6E-02 1 1.0E-02
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: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		74 93 1 9.5E-03 1 6.5E-03
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome 		6 0 1 2.7E-02 0 0
CUI: C0029089
Disease: Ophthalmoplegia
Ophthalmoplegia 		4 8 1 2.9E-02 2 3.0E-02
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		19 0 1 2.0E-02 0 0
CUI: C0036572
Disease: Seizures
Seizures 		237 417 1 3.7E-03 1 2.1E-03
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		43 62 1 1.4E-02 1 8.2E-03