DisGeNET - a database of gene-disease associations

Craniosynostosis, C0010278

Variant: rs28933068 ×

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:

rs28933068

FGFR3

0.700

CausalMutation

CLINVAR

FGFR3 mutation frequency in 324 cases from the International Skeletal Dysplasia Registry.

25614871

2014

dbSNP:

rs28933068

FGFR3

0.700

CausalMutation

CLINVAR

FGFR3 mutation frequency in 324 cases from the International Skeletal Dysplasia Registry.

25614871

2014

dbSNP:

rs28933068

FGFR3

0.700

CausalMutation

CLINVAR

Neuroimaging and neurological findings in patients with hypochondroplasia and FGFR3 N540K mutation.

23165795

2012

dbSNP:

rs28933068

FGFR3

0.700

CausalMutation

CLINVAR

Neuroimaging and neurological findings in patients with hypochondroplasia and FGFR3 N540K mutation.

23165795

2012

dbSNP:

rs28933068

FGFR3

0.700

CausalMutation

CLINVAR

Hypochondroplasia in a child with 1620C>G (Asn540Lys) mutation in FGFR3.

23149434

2012

dbSNP:

rs28933068

FGFR3

0.700

CausalMutation

CLINVAR

Occurrence of thanatophoric dysplasia type I (R248C) and hypochondroplasia (N540K) mutations in two patients with achondroplasia phenotype.

11754059

2001

dbSNP:

rs28933068

FGFR3

0.700

CausalMutation

CLINVAR

Distinct missense mutations of the FGFR3 lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype.

11055896

2000

dbSNP:

rs28933068

FGFR3

0.700

CausalMutation

CLINVAR

Distinct missense mutations of the FGFR3 lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype.

11055896

2000

dbSNP:

rs28933068

FGFR3

0.700

CausalMutation

CLINVAR

Achondroplasia-hypochondroplasia complex in a newborn infant.

10360392

1999

dbSNP:

rs28933068

FGFR3

0.700

CausalMutation

CLINVAR

Asn540Thr substitution in the fibroblast growth factor receptor 3 tyrosine kinase domain causing hypochondroplasia.

9452043

1998

dbSNP:

rs28933068

FGFR3

0.700

CausalMutation

CLINVAR

Asn540Thr substitution in the fibroblast growth factor receptor 3 tyrosine kinase domain causing hypochondroplasia.

9452043

1998

dbSNP:

rs28933068

FGFR3

0.700

CausalMutation

CLINVAR

A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia.

7670477

1995

dbSNP:

rs28933068

FGFR3

0.700

CausalMutation

CLINVAR

A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia.

7670477

1995

dbSNP:

rs28933068

FGFR3

0.700

CausalMutation

CLINVAR

A common FGFR3 gene mutation in hypochondroplasia.

8589686

1995

dbSNP:

rs28933068

FGFR3

0.700

CausalMutation

CLINVAR

A common FGFR3 gene mutation in hypochondroplasia.

8589686

1995