FGFR2, fibroblast growth factor receptor 2, 2263

N. diseases: 731; N. variants: 141
Disease: JACKSON-WEISS SYNDROME ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918488
rs121918488
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0795998
Disease:
JACKSON-WEISS SYNDROME 		0.800 GeneticVariation UNIPROT Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses. 9677057 1998
dbSNP: rs121918488
rs121918488
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0795998
Disease:
JACKSON-WEISS SYNDROME 		0.800 GeneticVariation UNIPROT Jackson-Weiss syndrome: identification of two novel FGFR2 missense mutations shared with Crouzon and Pfeiffer craniosynostotic disorders. 9385368 1997
dbSNP: rs121918488
rs121918488
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0795998
Disease:
JACKSON-WEISS SYNDROME 		0.800 GeneticVariation UNIPROT FGFR2 exon IIIa and IIIc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes: evidence for missense changes, insertions, and a deletion due to alternative RNA splicing. 8644708 1996
dbSNP: rs121918488
rs121918488
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0795998
Disease:
JACKSON-WEISS SYNDROME 		0.800 GeneticVariation UNIPROT In addition, the Jackson-Weiss syndrome mutation, C342R, in exon IIIc was observed previously in other craniosynostotic syndromes, Crouzon and Pfeiffer. 8528214 1995
dbSNP: rs121918488
rs121918488
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0795998
Disease:
JACKSON-WEISS SYNDROME 		0.800 GeneticVariation UNIPROT Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2. 7874170 1994
dbSNP: rs121918488
rs121918488
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0795998
Disease:
JACKSON-WEISS SYNDROME 		T 0.800 CausalMutation CLINVAR
dbSNP: rs121918488
rs121918488
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0795998
Disease:
JACKSON-WEISS SYNDROME 		G 0.800 CausalMutation CLINVAR