Source: ALL
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: C0018777
Disease: Conductive hearing loss
Conductive hearing loss 		291 0 1 2.1E-03 0 0
CUI: C1854114
Disease: Short nose
Short nose 		265 0 1 2.2E-03 0 0
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		255 0 1 2.3E-03 0 0
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		228 0 1 2.4E-03 0 0
CUI: C1853242
Disease: Midface retrusion
Midface retrusion 		228 0 1 2.4E-03 0 0
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia 		226 0 1 2.4E-03 0 0
CUI: C0311394
Disease: Difficulty walking
Difficulty walking 		224 0 1 2.5E-03 0 0
CUI: C0020608
Disease: Hypodontia
Hypodontia 		218 0 1 2.5E-03 0 0
CUI: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure 		216 0 1 2.5E-03 0 0
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation 		215 0 1 2.5E-03 0 0
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion 		211 0 1 2.5E-03 0 0
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios 		208 0 1 2.6E-03 0 0
CUI: C1858085
Disease: Malar flattening
Malar flattening 		190 0 1 2.7E-03 0 0
CUI: C1836047
Disease: Long face
Long face 		182 0 1 2.7E-03 0 0
CUI: C1837249
Disease: Malformations of Cortical Development, Group II
Malformations of Cortical Development, Group II 		180 0 1 2.7E-03 0 0
CUI: C0271623
Disease: Hypogonadotropic hypogonadism
Hypogonadotropic hypogonadism 		178 0 1 2.8E-03 0 0
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear 		176 0 1 2.8E-03 0 0
CUI: C0008074
Disease: Child Development Disorders, Pervasive
Child Development Disorders, Pervasive 		168 0 1 2.8E-03 0 0
CUI: C0028077
Disease: Nyctalopia
Nyctalopia 		168 0 1 2.8E-03 0 0
CUI: C1837315
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 1
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 		166 0 1 2.9E-03 0 0
CUI: C3554460
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 		166 0 1 2.9E-03 0 0
CUI: C2677123
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 3
COLORECTAL CANCER, SUSCEPTIBILITY TO, 3 		165 0 1 2.9E-03 0 0
CUI: C1836038
Disease: Poor head control
Poor head control 		162 0 1 2.9E-03 0 0
CUI: C0476397
Disease: Electroretinogram abnormal
Electroretinogram abnormal 		158 0 1 2.9E-03 0 0
CUI: C3468561
Disease: familial atrial fibrillation
familial atrial fibrillation 		157 0 1 2.9E-03 0 0