DisGeNET - a database of gene-disease associations

Source: CURATED

Disease: Disproportionate short stature ×

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

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF _EXOME

AF _GENOME

Disease

Score _vda

EI _vda

N_.PMIDs

FirstRef.

LastRef.

dbSNP:

rs1057516045

rs1057516045

LBR

0.925

0.160

1

225403404

stop gained

G/A

snv

1.6E-05

CUI:	C0878659
Disease:	Disproportionate short stature

Disproportionate short stature

0.700

dbSNP:

rs1057519335

rs1057519335

NPR2

0.925

0.040

9

35792968

missense variant

T/A

snv

CUI:	C0878659
Disease:	Disproportionate short stature

Disproportionate short stature

0.700

dbSNP:

rs1272546759

rs1272546759

GNAS

0.925

0.120

20

58909718

missense variant

C/G;T

snv

7.0E-06

CUI:	C0878659
Disease:	Disproportionate short stature

Disproportionate short stature

0.700

dbSNP:

rs1400419650

rs1400419650

TRIP11

0.708

0.320

14

92005938

stop gained

C/A;T

snv

4.0E-06

1.4E-05

CUI:	C0878659
Disease:	Disproportionate short stature

Disproportionate short stature

0.700

dbSNP:

rs1555386022

rs1555386022

TRIP11

0.708

0.320

14

92003418

splice donor variant

C/A

snv

CUI:	C0878659
Disease:	Disproportionate short stature

Disproportionate short stature

0.700

dbSNP:

rs1565256477

rs1565256477

MMP13

0.925

0.120

11

102955402

missense variant

A/G

snv

CUI:	C0878659
Disease:	Disproportionate short stature

Disproportionate short stature

0.700