Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2255
Gene Symbol: FGF10
FGF10 		0.930 Biomarker disease CTD_human
Entrez Id: 2255
Gene Symbol: FGF10
FGF10 		0.930 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 2255
Gene Symbol: FGF10
FGF10 		0.930 GeneticVariation disease CLINVAR
Entrez Id: 2255
Gene Symbol: FGF10
FGF10 		0.930 CausalMutation disease CLINVAR
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.730 Biomarker disease CTD_human
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.730 GeneticVariation disease CLINVAR
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.730 CausalMutation disease CLINVAR
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		0.720 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		0.720 Biomarker disease CTD_human
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		0.720 Biomarker disease GENOMICS_ENGLAND Stop codon FGFR3 mutations in thanatophoric dwarfism type 1. 7647778 1995
Entrez Id: 1913
Gene Symbol: EEC1
EEC1 		0.010 Biomarker disease BEFREE Split hand/split foot deformity and LADD syndrome in a family: overlap between the EEC and LADD syndromes. 8411061 1993
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.730 Biomarker disease GENOMICS_ENGLAND Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome. 8696350 1996
Entrez Id: 2255
Gene Symbol: FGF10
FGF10 		0.930 Biomarker disease GENOMICS_ENGLAND Morphogenesis. 9988217 1999
Entrez Id: 2255
Gene Symbol: FGF10
FGF10 		0.930 GeneticVariation disease UNIPROT Mutations in different components of FGF signaling in LADD syndrome. 16501574 2006
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.730 GermlineCausalMutation disease ORPHANET Mutations in different components of FGF signaling in LADD syndrome. 16501574 2006
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.730 Biomarker disease GENOMICS_ENGLAND Mutations in different components of FGF signaling in LADD syndrome. 16501574 2006
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.730 GeneticVariation disease UNIPROT Mutations in different components of FGF signaling in LADD syndrome. 16501574 2006
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		0.720 GeneticVariation disease UNIPROT Mutations in different components of FGF signaling in LADD syndrome. 16501574 2006
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		0.720 Biomarker disease GENOMICS_ENGLAND Mutations in different components of FGF signaling in LADD syndrome. 16501574 2006
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		0.720 GermlineCausalMutation disease ORPHANET Mutations in different components of FGF signaling in LADD syndrome. 16501574 2006
Entrez Id: 2255
Gene Symbol: FGF10
FGF10 		0.930 GeneticVariation disease UNIPROT We conclude that ALSG and LADD syndrome may represent variable presentations of the same clinical spectrum caused by FGF10 mutations. 16630169 2006
Entrez Id: 2255
Gene Symbol: FGF10
FGF10 		0.930 Biomarker disease GENOMICS_ENGLAND We conclude that ALSG and LADD syndrome may represent variable presentations of the same clinical spectrum caused by FGF10 mutations. 16630169 2006
Entrez Id: 2255
Gene Symbol: FGF10
FGF10 		0.930 GermlineCausalMutation disease ORPHANET We conclude that ALSG and LADD syndrome may represent variable presentations of the same clinical spectrum caused by FGF10 mutations. 16630169 2006
Entrez Id: 2255
Gene Symbol: FGF10
FGF10 		0.930 GeneticVariation disease BEFREE We conclude that ALSG and LADD syndrome may represent variable presentations of the same clinical spectrum caused by FGF10 mutations. 16630169 2006
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		0.720 CausalMutation disease CLINVAR Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia. 16912704 2006