DisGeNET - a database of gene-disease associations

TRIO, trio Rho guanine nucleotide exchange factor, 7204

N. diseases: 143; N. variants: 20

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:

rs756004023

1.000

14387579

missense variant

T/C

snv

2.4E-05

2.1E-05

CUI:	C4310740
Disease:	MENTAL RETARDATION, AUTOSOMAL DOMINANT 44

MENTAL RETARDATION, AUTOSOMAL DOMINANT 44

0.700

dbSNP:

rs879255623

1.000

14387619

frameshift variant

A/-

del

CUI:	C4310740
Disease:	MENTAL RETARDATION, AUTOSOMAL DOMINANT 44

MENTAL RETARDATION, AUTOSOMAL DOMINANT 44

0.700

dbSNP:

rs879255625

1.000

14398922

frameshift variant

A/-

del

CUI:	C4310740
Disease:	MENTAL RETARDATION, AUTOSOMAL DOMINANT 44

MENTAL RETARDATION, AUTOSOMAL DOMINANT 44

0.700