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

FOXG1

0.708

0.520

28767903

stop gained

C/A;G;T

snv

CUI:	C2315100
Disease:	Pediatric failure to thrive

Pediatric failure to thrive

0.700

dbSNP:

rs267606826

FOXG1

0.708

0.520

28767903

stop gained

C/A;G;T

snv

CUI:	C1854882
Disease:	Absent speech

Absent speech

0.700

dbSNP:

rs267606826

FOXG1

0.708

0.520

28767903

stop gained

C/A;G;T

snv

CUI:	C1844806
Disease:	Weight less than 3rd percentile

Weight less than 3rd percentile

0.700

dbSNP:

rs267606826

FOXG1

0.708

0.520

28767903

stop gained

C/A;G;T

snv

CUI:	C0262655
Disease:	Recurrent urinary tract infection

Recurrent urinary tract infection

0.700

dbSNP:

rs267606826

FOXG1

0.708

0.520

28767903

stop gained

C/A;G;T

snv

CUI:	C0037317
Disease:	Sleep disturbances

Sleep disturbances

0.700

dbSNP:

rs267606826

FOXG1

0.708

0.520

28767903

stop gained

C/A;G;T

snv

CUI:	C1858120
Disease:	Generalized hypotonia

Generalized hypotonia

0.700

dbSNP:

rs267606826

FOXG1

0.708

0.520

28767903

stop gained

C/A;G;T

snv

CUI:	C0028738
Disease:	Nystagmus

Nystagmus

0.700

dbSNP:

rs267606826

FOXG1

0.708

0.520

28767903

stop gained

C/A;G;T

snv

CUI:	C0349588
Disease:	Short stature

Short stature

0.700

dbSNP:

rs267606826

FOXG1

0.708

0.520

28767903

stop gained

C/A;G;T

snv

CUI:	C0557874
Disease:	Global developmental delay

Global developmental delay

0.700

dbSNP:

rs267606826

FOXG1

0.708

0.520

28767903

stop gained

C/A;G;T

snv

CUI:	C0431352
Disease:	Secondary microcephaly

Secondary microcephaly

0.700

dbSNP:

rs267606826

FOXG1

0.708

0.520

28767903

stop gained

C/A;G;T

snv

CUI:	C0038379
Disease:	Strabismus

Strabismus

0.700

dbSNP:

rs267606826

FOXG1

0.708

0.520

28767903

stop gained

C/A;G;T

snv

CUI:	C0013421
Disease:	Dystonia

Dystonia

0.700

dbSNP:

rs267606826

FOXG1

0.708

0.520

28767903

stop gained

C/A;G;T

snv

CUI:	C4551563
Disease:	Microcephaly (physical finding)

Microcephaly (physical finding)

0.700

dbSNP:

rs267606826

FOXG1

0.708

0.520

28767903

stop gained

C/A;G;T

snv

CUI:	C1857280
Disease:	Infra-orbital crease

Infra-orbital crease

0.700

dbSNP:

rs267606826

FOXG1

0.708

0.520

28767903

stop gained

C/A;G;T

snv

CUI:	C1855285
Disease:	Protruding ear

Protruding ear

0.700

dbSNP:

rs267606826

FOXG1

0.708

0.520

28767903

stop gained

C/A;G;T

snv

CUI:	C3150705
Disease:	FOXG1 syndrome

FOXG1 syndrome

0.700

dbSNP:

rs267606826

FOXG1

0.708

0.520

28767903

stop gained

C/A;G;T

snv

CUI:	C0013132
Disease:	Drooling

Drooling

0.700

dbSNP:

rs267606826

FOXG1

0.708

0.520

28767903

stop gained

C/A;G;T

snv

CUI:	C1861866
Disease:	Aplasia/Hypoplasia of the corpus callosum

Aplasia/Hypoplasia of the corpus callosum

0.700

dbSNP:

rs267606826

FOXG1

0.708

0.520

28767903

stop gained

C/A;G;T

snv

CUI:	C1853743
Disease:	Muscular hypotonia of the trunk

Muscular hypotonia of the trunk

0.700

dbSNP:

rs267606826

FOXG1

0.708

0.520

28767903

stop gained

C/A;G;T

snv

CUI:	C4025665
Disease:	Aplasia/Hypoplasia involving the central nervous system

Aplasia/Hypoplasia involving the central nervous system

0.700

dbSNP:

rs267606826

FOXG1

0.708

0.520

28767903

stop gained

C/A;G;T

snv

CUI:	C0345326
Disease:	Congenital phimosis

Congenital phimosis

0.700

dbSNP:

rs267606826

FOXG1

0.708

0.520

28767903

stop gained

C/A;G;T

snv

CUI:	C1857278
Disease:	Partial or complete agenesis of corpus callosum

Partial or complete agenesis of corpus callosum

0.700

dbSNP:

rs267606826

FOXG1

0.708

0.520

28767903

stop gained

C/A;G;T

snv

CUI:	C0878660
Disease:	Proportionate short stature

Proportionate short stature

0.700

dbSNP:

rs267606826

FOXG1

0.708

0.520

28767903

stop gained

C/A;G;T

snv

CUI:	C4021758
Disease:	Delayed CNS myelination

Delayed CNS myelination

0.700

dbSNP:

rs267606826

FOXG1

0.708

0.520

28767903

stop gained

C/A;G;T

snv

CUI:	C4021085
Disease:	Abnormality of brain morphology

Abnormality of brain morphology

0.700