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.
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
Congenital phimosis
CUI: C0345326
Disease: Congenital phimosis
1 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
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
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
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
Partial or complete agenesis of corpus callosum
CUI: C1857278
Disease: Partial or complete agenesis of corpus callosum
6 0.708 0.520 14 28767903 stop gained C/A;G;T snv 0.700 0
Protruding ear
CUI: C1855285
Disease: Protruding ear
6 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
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
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 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
Proportionate short stature
CUI: C0878660
Disease: Proportionate short stature
11 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
Secondary microcephaly
CUI: C0431352
Disease: Secondary microcephaly
20 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
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
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
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
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
Esotropia
CUI: C0014877
Disease: Esotropia
39 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
Muscle Spasticity
CUI: C0026838
Disease: Muscle Spasticity
48 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