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: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		17 19 3 7.0E-02 1 2.1E-03
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		2 135 2 6.9E-02 3 5.0E-03
CUI: C0017168
Disease: Gastroesophageal reflux disease
Gastroesophageal reflux disease 		2 2 2 6.9E-02 1 2.1E-03
CUI: C1835928
Disease: CARDIOMYOPATHY, DILATED, 1P
CARDIOMYOPATHY, DILATED, 1P 		2 3 2 6.9E-02 1 2.1E-03
CUI: C1970820
Disease: Fabry Disease, Cardiac Variant
Fabry Disease, Cardiac Variant 		2 0 2 6.9E-02 0 0
CUI: C3151265
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 18
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 18 		2 1 2 6.9E-02 1 2.1E-03
CUI: C4021797
Disease: Abnormality of the thorax
Abnormality of the thorax 		2 5 2 6.9E-02 1 2.1E-03
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		35 49 4 6.7E-02 2 3.9E-03
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		3 96 2 6.7E-02 51 9.9E-02
CUI: C4073145
Disease: Hyperkeratosis pilaris
Hyperkeratosis pilaris 		3 0 2 6.7E-02 0 0
CUI: C0018790
Disease: Cardiac Arrest
Cardiac Arrest 		4 3 2 6.5E-02 1 2.1E-03
CUI: C0020437
Disease: Hypercalcemia
Hypercalcemia 		4 4 2 6.5E-02 1 2.1E-03
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		37 211 4 6.5E-02 3 4.4E-03
CUI: C1843300
Disease: Sparse eyelashes
Sparse eyelashes 		4 4 2 6.5E-02 1 2.1E-03
CUI: C0002170
Disease: Alopecia
Alopecia 		5 5 2 6.2E-02 1 2.1E-03
CUI: C0020305
Disease: Hydrops Fetalis
Hydrops Fetalis 		5 8 2 6.2E-02 2 4.2E-03
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung 		22 135 3 6.2E-02 1 1.7E-03
CUI: C1384670
Disease: Single umbilical artery
Single umbilical artery 		5 5 2 6.2E-02 1 2.1E-03
CUI: C1836906
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 		5 0 2 6.2E-02 0 0
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm 		6 25 2 6.1E-02 1 2.0E-03
CUI: C0085298
Disease: Sudden Cardiac Death
Sudden Cardiac Death 		6 5 2 6.1E-02 1 2.1E-03
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		6 6 2 6.1E-02 2 4.2E-03
CUI: C4225426
Disease: THYROID CANCER, NONMEDULLARY, 2
THYROID CANCER, NONMEDULLARY, 2 		6 12 2 6.1E-02 1 2.1E-03
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios 		25 28 3 5.9E-02 2 4.0E-03
CUI: C0025202
Disease: melanoma
melanoma 		25 129 3 5.9E-02 1 1.7E-03