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: C4011556
Disease: Abnormal eyebrow morphology
Abnormal eyebrow morphology 		1 0 1 3.0E-03 0 0
CUI: C4021803
Disease: Abnormal eyelid morphology
Abnormal eyelid morphology 		3 0 1 3.0E-03 0 0
CUI: C4023721
Disease: Abnormal hair pattern
Abnormal hair pattern 		1 1 1 3.0E-03 1 1.6E-03
CUI: C0241654
Disease: Abnormal heart valve morphology
Abnormal heart valve morphology 		1 0 1 3.0E-03 0 0
CUI: C4021095
Disease: Abnormal hypothalamus morphology
Abnormal hypothalamus morphology 		1 0 1 3.0E-03 0 0
CUI: C4022855
Disease: Abnormal involuntary eye movements
Abnormal involuntary eye movements 		2 0 2 6.0E-03 0 0
CUI: C2749688
Disease: Abnormal isoelectric focusing of serum transferrin
Abnormal isoelectric focusing of serum transferrin 		7 0 3 8.8E-03 0 0
CUI: C4021810
Disease: Abnormal location of ears
Abnormal location of ears 		1 0 1 3.0E-03 0 0
CUI: C4477036
Disease: Abnormal location of the eyebrow
Abnormal location of the eyebrow 		1 1 1 3.0E-03 1 1.6E-03
CUI: C4023359
Disease: Abnormal maternal serum screening
Abnormal maternal serum screening 		1 0 1 3.0E-03 0 0
CUI: C4025759
Disease: Abnormal mitral valve morphology
Abnormal mitral valve morphology 		1 0 1 3.0E-03 0 0
CUI: C4022453
Disease: Abnormal morphology of ulna
Abnormal morphology of ulna 		1 0 1 3.0E-03 0 0
CUI: C0852413
Disease: Abnormal muscle tone
Abnormal muscle tone 		7 0 2 5.9E-03 0 0
CUI: C1857704
Disease: Abnormal myelination
Abnormal myelination 		1 0 1 3.0E-03 0 0
CUI: C0497202
Disease: Abnormal ocular motility
Abnormal ocular motility 		6 0 3 8.9E-03 0 0
CUI: C4021815
Disease: Abnormal palate morphology
Abnormal palate morphology 		2 0 1 3.0E-03 0 0
CUI: C0221199
Disease: Abnormal palmar creases
Abnormal palmar creases 		3 0 1 3.0E-03 0 0
CUI: C4073132
Disease: Abnormal pelvis bone morphology
Abnormal pelvis bone morphology 		1 0 1 3.0E-03 0 0
CUI: C0855740
Disease: Abnormal platelet function
Abnormal platelet function 		2 0 1 3.0E-03 0 0
CUI: C0231471
Disease: Abnormal posture
Abnormal posture 		7 0 2 5.9E-03 0 0
CUI: C1970591
Disease: Abnormal pupillary light reflex
Abnormal pupillary light reflex 		1 1 1 3.0E-03 1 1.6E-03
CUI: C0392188
Disease: Abnormal rapid eye movement sleep
Abnormal rapid eye movement sleep 		1 0 1 3.0E-03 0 0
CUI: C4025100
Disease: Abnormal respiratory motile cilium morphology
Abnormal respiratory motile cilium morphology 		2 0 1 3.0E-03 0 0
CUI: C0035300
Disease: Abnormal retinal morphology
Abnormal retinal morphology 		5 8 2 5.9E-03 1 1.6E-03
CUI: C0234649
Disease: Abnormal saccadic eye movement
Abnormal saccadic eye movement 		1 0 1 3.0E-03 0 0