rs121918508, FGFR2

N. diseases: 4
Disease: Lacrimoauriculodentodigital syndrome ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Lacrimoauriculodentodigital syndrome
CUI: C0265269
Disease: Lacrimoauriculodentodigital syndrome
0.800 GeneticVariation UNIPROT Structural basis for reduced FGFR2 activity in LADD syndrome: Implications for FGFR autoinhibition and activation. 18056630 2007
Lacrimoauriculodentodigital syndrome
CUI: C0265269
Disease: Lacrimoauriculodentodigital syndrome
0.800 GeneticVariation UNIPROT Mutations in different components of FGF signaling in LADD syndrome. 16501574 2006
Lacrimoauriculodentodigital syndrome
CUI: C0265269
Disease: Lacrimoauriculodentodigital syndrome
0.800 CausalMutation CLINVAR