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: C1384666
Disease: hearing impairment
hearing impairment 		88 257 1 8.4E-03 1 3.4E-03
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		39 0 1 1.4E-02 0 0
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		37 39 1 1.5E-02 1 1.3E-02
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		162 240 3 1.6E-02 1 3.6E-03
CUI: C0042798
Disease: Low Vision
Low Vision 		32 41 1 1.6E-02 1 1.3E-02
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		31 0 1 1.6E-02 0 0
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		30 39 1 1.6E-02 2 2.7E-02
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		88 0 2 1.7E-02 0 0
CUI: C4072872
Disease: obsolete Rod-cone dystrophy
obsolete Rod-cone dystrophy 		28 41 1 1.7E-02 1 1.3E-02
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		27 0 1 1.7E-02 0 0
CUI: C1854301
Disease: Motor delay
Motor delay 		27 34 1 1.7E-02 1 1.4E-02
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		26 0 1 1.8E-02 0 0
CUI: C0025202
Disease: melanoma
melanoma 		25 0 1 1.8E-02 0 0
CUI: C0152427
Disease: Polydactyly
Polydactyly 		24 37 1 1.8E-02 1 1.4E-02
CUI: C0029453
Disease: Osteopenia
Osteopenia 		23 23 1 1.9E-02 1 1.7E-02
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		23 0 1 1.9E-02 0 0
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		23 22 1 1.9E-02 1 1.7E-02
CUI: C1837260
Disease: Prominent forehead
Prominent forehead 		23 25 1 1.9E-02 1 1.6E-02
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		22 0 1 1.9E-02 0 0
CUI: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile 		22 0 1 1.9E-02 0 0
CUI: C0022680
Disease: Polycystic Kidney Diseases
Polycystic Kidney Diseases 		21 0 1 1.9E-02 0 0
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		21 0 1 1.9E-02 0 0
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia 		20 26 1 2.0E-02 1 1.6E-02
CUI: C0018681
Disease: Headache
Headache 		19 23 1 2.0E-02 1 1.7E-02
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		19 0 1 2.0E-02 0 0