DisGeNET - a database of gene-disease associations

rs1554904330, EBF3

N. diseases: 1

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

Disease

N. SNPs_d

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME

CUI:	C4310618
Disease:	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME

12

1.000

10

129877811

missense variant

C/T

snv

0.700