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: C0003467
Disease: Anxiety
Anxiety 		13 0 1 2.6E-02 0 0
CUI: C0003578
Disease: Apnea
Apnea 		7 0 1 3.1E-02 0 0
CUI: C0005754
Disease: Congenital blindness
Congenital blindness 		2 2 1 3.7E-02 1 5.7E-03
CUI: C0006267
Disease: Bronchiectasis
Bronchiectasis 		7 0 1 3.1E-02 0 0
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		44 0 1 1.4E-02 0 0
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		36 402 1 1.6E-02 3 5.2E-03
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		11 11 1 2.8E-02 2 1.1E-02
CUI: C0011813
Disease: Dextrocardia
Dextrocardia 		6 0 1 3.2E-02 0 0
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		23 25 1 2.1E-02 1 5.0E-03
CUI: C0014065
Disease: Congenital cerebral hernia
Congenital cerebral hernia 		1 0 1 3.8E-02 0 0
CUI: C0016202
Disease: Flatfoot
Flatfoot 		30 0 1 1.8E-02 0 0
CUI: C0018536
Disease: Hallux Valgus
Hallux Valgus 		5 0 1 3.3E-02 0 0
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		31 0 1 1.8E-02 0 0
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		21 30 1 2.2E-02 1 4.9E-03
CUI: C0022346
Disease: Icterus
Icterus 		7 0 1 3.1E-02 0 0
CUI: C0024507
Disease: Majewski Syndrome
Majewski Syndrome 		11 0 1 2.8E-02 0 0
CUI: C0025990
Disease: Micrognathism
Micrognathism 		46 52 1 1.4E-02 1 4.4E-03
CUI: C0030305
Disease: Pancreatitis
Pancreatitis 		3 5 1 3.6E-02 2 1.1E-02
CUI: C0031039
Disease: Pericardial effusion
Pericardial effusion 		6 0 1 3.2E-02 0 0
CUI: C0031154
Disease: Peritonitis
Peritonitis 		1 2 1 3.8E-02 2 1.1E-02
CUI: C0033785
Disease: Pseudarthrosis
Pseudarthrosis 		1 1 1 3.8E-02 1 5.7E-03
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		43 62 1 1.5E-02 2 8.5E-03
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		37 0 1 1.6E-02 0 0
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		34 0 1 1.7E-02 0 0
CUI: C0038379
Disease: Strabismus
Strabismus 		61 85 1 1.2E-02 1 3.9E-03