rs387907329, WDR45;PRAF2

N. diseases: 10
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 features
CUI: C0432072
Disease: Dysmorphic features
617 0.827 0.200 X 49075573 stop gained G/A;T snv 5.5E-06 0.700 1.000 10 2010 2017
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
350 0.827 0.200 X 49075573 stop gained G/A;T snv 5.5E-06 0.700 1.000 10 2010 2017
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.827 0.200 X 49075573 stop gained G/A;T snv 5.5E-06 0.700 1.000 10 2010 2017
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
CUI: C3550973
Disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
28 0.827 0.200 X 49075573 stop gained G/A;T snv 5.5E-06 0.700 1.000 5 2012 2019
Absent speech
CUI: C1854882
Disease: Absent speech
72 0.827 0.200 X 49075573 stop gained G/A;T snv 5.5E-06 0.700 0
Delayed speech and language development
CUI: C0454644
Disease: Delayed speech and language development
192 0.827 0.200 X 49075573 stop gained G/A;T snv 5.5E-06 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.827 0.200 X 49075573 stop gained G/A;T snv 5.5E-06 0.700 0
Gross motor development delay
CUI: C1837658
Disease: Gross motor development delay
59 0.827 0.200 X 49075573 stop gained G/A;T snv 5.5E-06 0.700 0
Hypoplasia of corpus callosum
CUI: C0344482
Disease: Hypoplasia of corpus callosum
49 0.827 0.200 X 49075573 stop gained G/A;T snv 5.5E-06 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 0.827 0.200 X 49075573 stop gained G/A;T snv 5.5E-06 0.700 0