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.
Abnormal CNS myelination
CUI: C4021152
Disease: Abnormal CNS myelination
4 0.708 0.520 14 28767903 stop gained C/A;G;T snv 0.700 0
Abnormal corpus callosum morphology
CUI: C1842581
Disease: Abnormal corpus callosum morphology
10 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
Abnormality of the optic nerve
CUI: C0029131
Disease: Abnormality of the optic nerve
11 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
Aplasia/Hypoplasia involving the central nervous system
CUI: C4025665
Disease: Aplasia/Hypoplasia involving the central nervous system
1 0.708 0.520 14 28767903 stop gained C/A;G;T snv 0.700 0
Aplasia/Hypoplasia of the corpus callosum
CUI: C1861866
Disease: Aplasia/Hypoplasia of the corpus callosum
8 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
Congenital phimosis
CUI: C0345326
Disease: Congenital phimosis
1 0.708 0.520 14 28767903 stop gained C/A;G;T snv 0.700 0
Delayed CNS myelination
CUI: C4021758
Disease: Delayed CNS myelination
4 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
Dystonia
CUI: C0013421
Disease: Dystonia
97 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
Flaring of rib cage
CUI: C1854780
Disease: Flaring of rib cage
1 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
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 0.708 0.520 14 28767903 stop gained C/A;G;T snv 0.700 0
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
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
Infra-orbital crease
CUI: C1857280
Disease: Infra-orbital crease
1 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
Mild short stature
CUI: C3150077
Disease: Mild short stature
8 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
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
Nystagmus
CUI: C0028738
Disease: Nystagmus
95 0.708 0.520 14 28767903 stop gained C/A;G;T snv 0.700 0