DisGeNET - a database of gene-disease associations

Craniosynostosis, C0010278

Variant: rs28931615 ×

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs28931615

FGFR3

0.700

CausalMutation

CLINVAR

Multiple consequences of a single amino acid pathogenic RTK mutation: the A391E mutation in FGFR3.

23437153

2013

dbSNP:

rs28931615

FGFR3

0.700

CausalMutation

CLINVAR

The A391E mutation enhances FGFR3 activation in the absence of ligand.

21536014

2011

dbSNP:

rs28931615

FGFR3

0.700

CausalMutation

CLINVAR

A newborn with acanthosis nigricans: can it be Crouzon syndrome with acanthosis nigricans?

20199409

2010

dbSNP:

rs28931615

FGFR3

0.700

CausalMutation

CLINVAR

Pathogenic activation of receptor tyrosine kinases in mammalian membranes.

18976668

2008

dbSNP:

rs28931615

FGFR3

0.700

CausalMutation

CLINVAR

Subtle radiographic findings of achondroplasia in patients with Crouzon syndrome with acanthosis nigricans due to an Ala391Glu substitution in FGFR3.

11426459

2001

dbSNP:

rs28931615

FGFR3

0.700

CausalMutation

CLINVAR

A recurrent mutation, ala391glu, in the transmembrane region of FGFR3 causes Crouzon syndrome and acanthosis nigricans.

8880573

1996

dbSNP:

rs28931615

FGFR3

0.700

CausalMutation

CLINVAR

Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans.

7493034

1995