rs267606826, FOXG1

N. diseases: 38
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.
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.708 0.520 14 28767903 stop gained C/A;G;T snv 0.700 0
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 0.708 0.520 14 28767903 stop gained C/A;G;T snv 0.700 0
Short stature
CUI: C0349588
Disease: Short stature
292 0.708 0.520 14 28767903 stop gained C/A;G;T snv 0.700 0
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.708 0.520 14 28767903 stop gained C/A;G;T snv 0.700 0
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 0.708 0.520 14 28767903 stop gained C/A;G;T snv 0.700 0
Abnormality of brain morphology
CUI: C4021085
Disease: Abnormality of brain morphology
131 0.708 0.520 14 28767903 stop gained C/A;G;T snv 0.700 0
Pediatric failure to thrive
CUI: C2315100
Disease: Pediatric failure to thrive
122 0.708 0.520 14 28767903 stop gained C/A;G;T snv 0.700 0
Dystonia
CUI: C0013421
Disease: Dystonia
97 0.708 0.520 14 28767903 stop gained C/A;G;T snv 0.700 0
Nystagmus
CUI: C0028738
Disease: Nystagmus
95 0.708 0.520 14 28767903 stop gained C/A;G;T snv 0.700 0
Strabismus
CUI: C0038379
Disease: Strabismus
89 0.708 0.520 14 28767903 stop gained C/A;G;T snv 0.700 0
Sleep disturbances
CUI: C0037317
Disease: Sleep disturbances
74 0.708 0.520 14 28767903 stop gained C/A;G;T snv 0.700 0
Absent speech
CUI: C1854882
Disease: Absent speech
72 0.708 0.520 14 28767903 stop gained C/A;G;T snv 0.700 0
Acid reflux
CUI: C4317146
Disease: Acid reflux
58 0.708 0.520 14 28767903 stop gained C/A;G;T snv 0.700 0
Hypoplasia of corpus callosum
CUI: C0344482
Disease: Hypoplasia of corpus callosum
49 0.708 0.520 14 28767903 stop gained C/A;G;T snv 0.700 0
Muscle Spasticity
CUI: C0026838
Disease: Muscle Spasticity
48 0.708 0.520 14 28767903 stop gained C/A;G;T snv 0.700 0
FOXG1 syndrome
CUI: C3150705
Disease: FOXG1 syndrome
46 0.708 0.520 14 28767903 stop gained C/A;G;T snv 0.700 0
Esotropia
CUI: C0014877
Disease: Esotropia
39 0.708 0.520 14 28767903 stop gained C/A;G;T snv 0.700 0
Congenital pectus excavatum
CUI: C0016842
Disease: Congenital pectus excavatum
36 0.708 0.520 14 28767903 stop gained C/A;G;T snv 0.700 0
Weight less than 3rd percentile
CUI: C1844806
Disease: Weight less than 3rd percentile
27 0.708 0.520 14 28767903 stop gained C/A;G;T snv 0.700 0
Stereotypic Movement Disorder
CUI: C0038273
Disease: Stereotypic Movement Disorder
26 0.708 0.520 14 28767903 stop gained C/A;G;T snv 0.700 0
Muscular hypotonia of the trunk
CUI: C1853743
Disease: Muscular hypotonia of the trunk
25 0.708 0.520 14 28767903 stop gained C/A;G;T snv 0.700 0
Recurrent urinary tract infection
CUI: C0262655
Disease: Recurrent urinary tract infection
21 0.708 0.520 14 28767903 stop gained C/A;G;T snv 0.700 0
Secondary microcephaly
CUI: C0431352
Disease: Secondary microcephaly
20 0.708 0.520 14 28767903 stop gained C/A;G;T snv 0.700 0
Drooling
CUI: C0013132
Disease: Drooling
14 0.708 0.520 14 28767903 stop gained C/A;G;T snv 0.700 0
Oculomotor apraxia
CUI: C3489733
Disease: Oculomotor apraxia
14 0.708 0.520 14 28767903 stop gained C/A;G;T snv 0.700 0