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: C1849265
Disease: Overgrowth
Overgrowth 		81 0 1 5.5E-03 0 0
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		67 6385 1 5.9E-03 1 1.5E-04
CUI: C0025990
Disease: Micrognathism
Micrognathism 		46 52 1 6.8E-03 1 5.5E-03
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		46 66 1 6.8E-03 1 5.1E-03
CUI: C0013421
Disease: Dystonia
Dystonia 		42 61 1 6.9E-03 1 5.2E-03
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		39 0 1 7.1E-03 0 0
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		37 0 1 7.2E-03 0 0
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		37 0 1 7.2E-03 0 0
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		37 0 1 7.2E-03 0 0
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		36 0 1 7.2E-03 0 0
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		35 49 1 7.3E-03 1 5.6E-03
CUI: C0013362
Disease: Dysarthria
Dysarthria 		34 0 1 7.4E-03 0 0
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		34 0 1 7.4E-03 0 0
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		32 0 1 7.5E-03 0 0
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		31 38 1 7.5E-03 1 6.0E-03
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		30 0 1 7.6E-03 0 0
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		30 0 1 7.6E-03 0 0
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		30 46 1 7.6E-03 1 5.7E-03
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		28 802 1 7.7E-03 1 1.1E-03
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		28 0 1 7.7E-03 0 0
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		28 0 1 7.7E-03 0 0
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		28 0 1 7.7E-03 0 0
CUI: C4072872
Disease: obsolete Rod-cone dystrophy
obsolete Rod-cone dystrophy 		28 0 1 7.7E-03 0 0
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		27 0 1 7.8E-03 0 0
CUI: C1854301
Disease: Motor delay
Motor delay 		27 0 1 7.8E-03 0 0