rs1135402758, NUP214

N. diseases: 5
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.
Congenital anomaly of face
CUI: C0266617
Disease: Congenital anomaly of face
7 1.000 9 131199023 intron variant T/- delins 0.700 0
Developmental delay (disorder)
CUI: C0424605
Disease: Developmental delay (disorder)
68 1.000 9 131199023 intron variant T/- delins 0.700 0
Dysmorphic facies
CUI: C0424503
Disease: Dysmorphic facies
106 1.000 9 131199023 intron variant T/- delins 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 1.000 9 131199023 intron variant T/- delins 0.700 0
Growth delay
CUI: C0456070
Disease: Growth delay
40 1.000 9 131199023 intron variant T/- delins 0.700 0