DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variant: rs267606826 ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF _EXOME

AF _GENOME

Disease

Score _vda

EI _vda

N_.PMIDs

FirstRef.

LastRef.

dbSNP:

rs267606826

rs267606826

FOXG1

0.708

0.520

14

28767903

stop gained

C/A;G;T

snv

CUI:	C0016842
Disease:	Congenital pectus excavatum

Congenital pectus excavatum

0.700

dbSNP:

rs267606826

rs267606826

FOXG1

0.708

0.520

14

28767903

stop gained

C/A;G;T

snv

CUI:	C1843367
Disease:	Poor school performance

Poor school performance

0.700

dbSNP:

rs267606826

rs267606826

FOXG1

0.708

0.520

14

28767903

stop gained

C/A;G;T

snv

CUI:	C1842581
Disease:	Abnormal corpus callosum morphology

Abnormal corpus callosum morphology

0.700

dbSNP:

rs267606826

rs267606826

FOXG1

0.708

0.520

14

28767903

stop gained

C/A;G;T

snv

CUI:	C0029131
Disease:	Abnormality of the optic nerve

Abnormality of the optic nerve

0.700

dbSNP:

rs267606826

rs267606826

FOXG1

0.708

0.520

14

28767903

stop gained

C/A;G;T

snv

CUI:	C3150077
Disease:	Mild short stature

Mild short stature

0.700

dbSNP:

rs267606826

rs267606826

FOXG1

0.708

0.520

14

28767903

stop gained

C/A;G;T

snv

CUI:	C1854780
Disease:	Flaring of rib cage

Flaring of rib cage

0.700

dbSNP:

rs267606826

rs267606826

FOXG1

0.708

0.520

14

28767903

stop gained

C/A;G;T

snv

CUI:	C3489733
Disease:	Oculomotor apraxia

Oculomotor apraxia

0.700

dbSNP:

rs267606826

rs267606826

FOXG1

0.708

0.520

14

28767903

stop gained

C/A;G;T

snv

CUI:	C0344482
Disease:	Hypoplasia of corpus callosum

Hypoplasia of corpus callosum

0.700

dbSNP:

rs267606826

rs267606826

FOXG1

0.708

0.520

14

28767903

stop gained

C/A;G;T

snv

CUI:	C0014877
Disease:	Esotropia

Esotropia

0.700

dbSNP:

rs267606826

rs267606826

FOXG1

0.708

0.520

14

28767903

stop gained

C/A;G;T

snv

CUI:	C0026838
Disease:	Muscle Spasticity

Muscle Spasticity

0.700

dbSNP:

rs267606826

rs267606826

FOXG1

0.708

0.520

14

28767903

stop gained

C/A;G;T

snv

CUI:	C4021152
Disease:	Abnormal CNS myelination

Abnormal CNS myelination

0.700

dbSNP:

rs267606826

rs267606826

FOXG1

0.708

0.520

14

28767903

stop gained

C/A;G;T

snv

CUI:	C4317146
Disease:	Acid reflux

Acid reflux

0.700

dbSNP:

rs267606826

rs267606826

FOXG1

0.708

0.520

14

28767903

stop gained

C/A;G;T

snv

CUI:	C0038273
Disease:	Stereotypic Movement Disorder

Stereotypic Movement Disorder

0.700