Source: INFERRED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Hypochondroplasia and stature within normal limits: another family with an Asn540Ser mutation in the fibroblast growth factor receptor 3 gene. 12707965

2003
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Clinical and radiographic features of a family with hypochondroplasia owing to a novel Asn540Ser mutation in the fibroblast growth factor receptor 3 gene. 10777366

2000
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Epidemiology and genetics of craniosynostosis. 10602123

2000
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Sex related expressivity of the phenotype in coronal craniosynostosis caused by the recurrent P250R FGFR3 mutation. 9950359

1999
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR "Let's call it ""Crouzonodermoskeletal syndrome"" so we won't be prisoners of our own conventional terminology." 10213050

1999
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene. 10053006

1999
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Comparison of clinical-radiological and molecular findings in hypochondroplasia. 9450868

1998
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Identification of a genetic cause for isolated unilateral coronal synostosis: a unique mutation in the fibroblast growth factor receptor 3. 9580776

1998
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Molecular, radiologic, and histopathologic correlations in thanatophoric dysplasia. 9677066

1998
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1). 8845844

1996
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Achondroplasia is defined by recurrent G380R mutations of FGFR3. 7847369

1995
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia. 7670477

1995
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR The frequency of mental retardation in hypochondroplasia. 1956068

1991
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Phenotypic variation in LADD syndrome. 4078868

1985
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly 		0.100 Biomarker HPO

Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0004509
Disease: Azoospermia
Azoospermia 		0.100 Biomarker HPO

Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.100 Biomarker HPO

Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0005747
Disease: Blepharospasm
Blepharospasm 		0.100 Biomarker HPO

Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0008297
Disease: Choanal Atresia
Choanal Atresia 		0.100 Biomarker HPO

Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0008497
Disease: Choriocarcinoma
Choriocarcinoma 		0.100 Biomarker HPO

Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		0.100 Biomarker HPO

Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0010930
Disease: Dacryocystitis
Dacryocystitis 		0.100 Biomarker HPO

Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0011334
Disease: Dental caries
Dental caries 		0.100 Biomarker HPO

Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0011351
Disease: Dental Enamel Hypoplasia
Dental Enamel Hypoplasia 		0.100 Biomarker HPO

Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		0.100 Biomarker HPO