DisGeNET - a database of gene-disease associations

SATB2, SATB homeobox 2, 23314

N. diseases: 233; N. variants: 38

Disease: Delayed speech and language development ×

Source: ALL

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

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Disease

Disease Class

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

dbSNP:

rs875989830

0.925

0.200

199348742

frameshift variant

AC/-

delins

CUI:	C0454644
Disease:	Delayed speech and language development

Delayed speech and language development

Behavior and Behavior Mechanisms

0.700

dbSNP:

rs878853163

0.925

0.200

199323850

stop gained

T/A;C

snv

CUI:	C0454644
Disease:	Delayed speech and language development

Delayed speech and language development

Behavior and Behavior Mechanisms

0.700