rs121434616, CUL4B

N. diseases: 6
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Dysmorphic facies
CUI: C0424503
Disease: Dysmorphic facies
106 0.925 0.080 X 120544179 stop gained G/A snv 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.925 0.080 X 120544179 stop gained G/A snv 0.700 0
MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT
CUI: C1845861
Disease: MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT
10 0.925 0.080 X 120544179 stop gained G/A snv 0.700 0
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 0.925 0.080 X 120544179 stop gained G/A snv 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 0.925 0.080 X 120544179 stop gained G/A snv 0.700 0
Short stature
CUI: C0349588
Disease: Short stature
292 0.925 0.080 X 120544179 stop gained G/A snv 0.700 0