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: C2132198
Disease: Abnormal blistering of the skin
Abnormal blistering of the skin 		75 0 1 3.1E-03 0 0
CUI: C0231557
Disease: Abnormal bone formation
Abnormal bone formation 		12 0 1 3.8E-03 0 0
CUI: C4022798
Disease: Abnormal brain FDG positron emission tomography
Abnormal brain FDG positron emission tomography 		18 0 1 3.8E-03 0 0
CUI: C1260922
Disease: Abnormal breathing
Abnormal breathing 		5 0 1 4.0E-03 0 0
CUI: C4477077
Disease: Abnormal cardiac exercise stress test
Abnormal cardiac exercise stress test 		16 0 1 3.8E-03 0 0
CUI: C0234629
Disease: Abnormal color vision
Abnormal color vision 		5 0 1 4.0E-03 0 0
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology 		70 0 2 6.3E-03 0 0
CUI: C4021741
Disease: Abnormal cortical bone morphology
Abnormal cortical bone morphology 		41 0 1 3.5E-03 0 0
CUI: C4021839
Disease: Abnormal dense granule content
Abnormal dense granule content 		1 0 1 4.0E-03 0 0
CUI: C0432333
Disease: Abnormal dermatoglyphic pattern
Abnormal dermatoglyphic pattern 		44 0 1 3.4E-03 0 0
CUI: C4023330
Disease: Abnormal Descemet membrane morphology
Abnormal Descemet membrane morphology 		2 0 1 4.0E-03 0 0
CUI: C4022922
Disease: Abnormal enzyme/coenzyme activity
Abnormal enzyme/coenzyme activity 		13 0 1 3.8E-03 0 0
CUI: C4023397
Disease: Abnormal hair quantity
Abnormal hair quantity 		29 0 1 3.6E-03 0 0
CUI: C4073063
Disease: Abnormal kinetic perimetry test
Abnormal kinetic perimetry test 		4 0 1 4.0E-03 0 0
CUI: C0278061
Disease: Abnormal mental state
Abnormal mental state 		24 0 1 3.7E-03 0 0
CUI: C4022653
Disease: Abnormal muscle fiber protein expression
Abnormal muscle fiber protein expression 		2 0 1 4.0E-03 0 0
CUI: C1857704
Disease: Abnormal myelination
Abnormal myelination 		49 0 1 3.4E-03 0 0
CUI: C0497202
Disease: Abnormal ocular motility
Abnormal ocular motility 		45 0 1 3.4E-03 0 0
CUI: C4476900
Disease: Abnormal pancreatic duct morphology
Abnormal pancreatic duct morphology 		5 0 1 4.0E-03 0 0
CUI: C1260926
Disease: Abnormal pigmentation
Abnormal pigmentation 		58 0 1 3.3E-03 0 0
CUI: C0855740
Disease: Abnormal platelet function
Abnormal platelet function 		21 0 1 3.7E-03 0 0
CUI: C4551596
Disease: Abnormal renal morphology
Abnormal renal morphology 		35 0 1 3.5E-03 0 0
CUI: C0035300
Disease: Abnormal retinal morphology
Abnormal retinal morphology 		13 0 1 3.8E-03 0 0
CUI: C0234649
Disease: Abnormal saccadic eye movement
Abnormal saccadic eye movement 		17 0 1 3.8E-03 0 0
CUI: C4025250
Disease: Abnormal sacrum morphology
Abnormal sacrum morphology 		17 0 1 3.8E-03 0 0