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.
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
CUI: C3279839
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
39 0.827 0.240 21 37486563 stop gained C/T snv 0.700 1.000 4 2014 2015
Broad-based gait
CUI: C0856863
Disease: Broad-based gait
24 0.827 0.240 21 37486563 stop gained C/T snv 0.700 1.000 1 2015 2015
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.827 0.240 21 37486563 stop gained C/T snv 0.700 1.000 1 2015 2015
Intrauterine retardation
CUI: C1386048
Disease: Intrauterine retardation
56 0.827 0.240 21 37486563 stop gained C/T snv 0.700 1.000 1 2015 2015
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.827 0.240 21 37486563 stop gained C/T snv 0.700 1.000 1 2015 2015
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 0.827 0.240 21 37486563 stop gained C/T snv 0.700 1.000 1 2015 2015
Seizures
CUI: C0036572
Disease: Seizures
553 0.827 0.240 21 37486563 stop gained C/T snv 0.700 1.000 1 2015 2015
Severe speech delay
CUI: C1968537
Disease: Severe speech delay
9 0.827 0.240 21 37486563 stop gained C/T snv 0.700 1.000 1 2015 2015
Short stature
CUI: C0349588
Disease: Short stature
292 0.827 0.240 21 37486563 stop gained C/T snv 0.700 1.000 1 2015 2015
Absent or delayed speech development
CUI: C3276611
Disease: Absent or delayed speech development
9 0.827 0.240 21 37486563 stop gained C/T snv 0.700 0
Feeding difficulties
CUI: C0232466
Disease: Feeding difficulties
62 0.827 0.240 21 37486563 stop gained C/T snv 0.700 0
Generalized seizures
CUI: C0234533
Disease: Generalized seizures
13 0.827 0.240 21 37486563 stop gained C/T snv 0.700 0
Mental Retardation
CUI: C0025362
Disease: Mental Retardation
98 0.827 0.240 21 37486563 stop gained C/T snv 0.700 0
Microphthalmos
CUI: C0026010
Disease: Microphthalmos
40 0.827 0.240 21 37486563 stop gained C/T snv 0.700 0
Sunken eyes
CUI: C0423224
Disease: Sunken eyes
54 0.827 0.240 21 37486563 stop gained C/T snv 0.700 0