PQBP1, polyglutamine binding protein 1, 10084

N. diseases: 118; N. variants: 7
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121917899
rs121917899
1.000 0.080 X 48901944 missense variant A/G snv
CUI: C0796135
Disease: Renpenning syndrome 1
Renpenning syndrome 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.810 1.000 6 2003 2015
dbSNP: rs606231193
rs606231193
0.925 0.080 X 48902391 frameshift variant AGAG/-;AG;AGAGAG delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 6 1962 2011
dbSNP: rs606231193
rs606231193
0.925 0.080 X 48902391 frameshift variant AGAG/-;AG;AGAGAG delins
CUI: C0796135
Disease: Renpenning syndrome 1
Renpenning syndrome 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 4 1994 2007
dbSNP: rs606231196
rs606231196
1.000 0.080 X 48902788 splice donor variant -/C;CCCC delins
CUI: C0796135
Disease: Renpenning syndrome 1
Renpenning syndrome 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 3 1998 2016
dbSNP: rs1557041672
rs1557041672
1.000 0.080 X 48902740 stop gained C/T snv
CUI: C0796135
Disease: Renpenning syndrome 1
Renpenning syndrome 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs606231193
rs606231193
0.925 0.080 X 48902391 frameshift variant AGAG/-;AG;AGAGAG delins
CUI: C1843367
Disease: Poor school performance
Poor school performance
0.700 0
dbSNP: rs606231193
rs606231193
0.925 0.080 X 48902391 frameshift variant AGAG/-;AG;AGAGAG delins
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
0.700 0
dbSNP: rs606231193
rs606231193
0.925 0.080 X 48902391 frameshift variant AGAG/-;AG;AGAGAG delins
Delayed speech and language development
Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs606231193
rs606231193
0.925 0.080 X 48902391 frameshift variant AGAG/-;AG;AGAGAG delins
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs606231197
rs606231197
1.000 0.080 X 48902484 frameshift variant GAGCTGGCTCCCTATCCCAAGAG/- delins
CUI: C0796135
Disease: Renpenning syndrome 1
Renpenning syndrome 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs878853145
rs878853145
1.000 0.200 X 48903017 missense variant C/T snv
CUI: C0025362
Disease: Mental Retardation
Mental Retardation
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1047322213
rs1047322213
1.000 0.120 X 48902470 missense variant G/A snv
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.010 1.000 1 2018 2018
dbSNP: rs1047322213
rs1047322213
1.000 0.120 X 48902470 missense variant G/A snv
CUI: C0431368
Disease: Partial agenesis of corpus callosum
Partial agenesis of corpus callosum
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs121917899
rs121917899
1.000 0.080 X 48901944 missense variant A/G snv
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.010 1.000 1 2016 2016