DisGeNET - a database of gene-disease associations

rs137852552, SHOX

N. diseases: 2

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.

Short stature

CUI:	C0349588
Disease:	Short stature

292

1.000

0.080

Y

641037

stop gained

C/A;T

snv

0.700

SHORT STATURE, IDIOPATHIC, X-LINKED

CUI:	C1845118
Disease:	SHORT STATURE, IDIOPATHIC, X-LINKED

8

1.000

0.080

Y

641037

stop gained

C/A;T

snv

0.700