DisGeNET - a database of gene-disease associations

SHORT STATURE, RHIZOMELIC, WITH MICROCEPHALY, MICROGNATHIA, AND DEVELOPMENTAL DELAY, C4310686

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

Gene

N.diseases _v

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

dbSNP:

rs886040858

rs886040858

ARCN1

1

1.000

11

118581395

frameshift variant

AG/-

delins

0.700

dbSNP:

rs886040859

rs886040859

ARCN1

1

1.000

11

118581502

stop gained

C/A

snv

0.700

dbSNP:

rs886040860

rs886040860

ARCN1

1

1.000

11

118583991

frameshift variant

A/-

delins

0.700