rs794727774, FUCA1

N. diseases: 11
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.
Absent speech
CUI: C1854882
Disease: Absent speech
72 0.827 0.240 1 23848684 stop gained C/T snv 0.700 0
Clinodactyly of the 5th finger
CUI: C1850049
Disease: Clinodactyly of the 5th finger
39 0.827 0.240 1 23848684 stop gained C/T snv 0.700 0
Decreased muscle mass
CUI: C1837108
Disease: Decreased muscle mass
12 0.827 0.240 1 23848684 stop gained C/T snv 0.700 0
Depressed nasal bridge
CUI: C1836542
Disease: Depressed nasal bridge
39 0.827 0.240 1 23848684 stop gained C/T snv 0.700 0
Fucosidase Deficiency Disease
CUI: C0016788
Disease: Fucosidase Deficiency Disease
14 0.827 0.240 1 23848684 stop gained C/T snv 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.827 0.240 1 23848684 stop gained C/T snv 0.700 0
Hirsutism
CUI: C0019572
Disease: Hirsutism
17 0.827 0.240 1 23848684 stop gained C/T snv 0.700 0
Macrostomia
CUI: C0024433
Disease: Macrostomia
11 0.827 0.240 1 23848684 stop gained C/T snv 0.700 0
Pediatric failure to thrive
CUI: C2315100
Disease: Pediatric failure to thrive
122 0.827 0.240 1 23848684 stop gained C/T snv 0.700 0
Tapering fingers (finding)
CUI: C0426886
Disease: Tapering fingers (finding)
19 0.827 0.240 1 23848684 stop gained C/T snv 0.700 0
Telecanthus
CUI: C0423113
Disease: Telecanthus
14 0.827 0.240 1 23848684 stop gained C/T snv 0.700 0