Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		1.000 GermlineCausalMutation ORPHANET Hypochondroplasia in a child with 1620C>G (Asn540Lys) mutation in FGFR3. 23149434

2012
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome 		1.000 GermlineCausalMutation ORPHANET Nosology and classification of genetic skeletal disorders: 2010 revision. 21438135

2011
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder) 		0.800 GermlineCausalMutation ORPHANET Hypochondroplasia in a child with 1620C>G (Asn540Lys) mutation in FGFR3. 23149434

2012
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C2674173
Disease: Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans 		0.800 GermlineCausalMutation ORPHANET Prenatal and postnatal presentation of severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) due to the FGFR3 Lys650Met mutation. 18076102

2008
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C2674173
Disease: Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans 		0.800 GermlineCausalMutation ORPHANET We refer to the phenotype caused by the Lys650Met mutation as "severe achondroplasia with developmental delay and acanthosis nigricans" (SADDAN) because it differs significantly from the phenotypes of other known FGFR3 mutations. 10053006

1999
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0265269
Disease: Lacrimoauriculodentodigital syndrome
Lacrimoauriculodentodigital syndrome 		0.720 GermlineCausalMutation ORPHANET Mutations in different components of FGF signaling in LADD syndrome. 16501574

2006
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C1864852
Disease: CATSHL syndrome
CATSHL syndrome 		0.710 GermlineCausalMutation ORPHANET A novel homozygous mutation in FGFR3 causes tall stature, severe lateral tibial deviation, scoliosis, hearing impairment, camptodactyly, and arachnodactyly. 24864036

2014
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C1864852
Disease: CATSHL syndrome
CATSHL syndrome 		0.710 GermlineCausalMutation ORPHANET A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndrome. 17033969

2006
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0265529
Disease: Plagiocephaly
Plagiocephaly 		0.420 GermlineCausalMutation ORPHANET A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) causes non-syndromic craniosynostosis. 10914960

2000
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		0.410 GermlineCausalMutation ORPHANET A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) causes non-syndromic craniosynostosis. 10914960

2000
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0175699
Disease: Saethre-Chotzen Syndrome
Saethre-Chotzen Syndrome 		0.410 GeneticVariation ORPHANET

Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0206726
Disease: gliosarcoma
gliosarcoma 		0.300 FusionGene ORPHANET Transforming fusions of FGFR and TACC genes in human glioblastoma. 22837387

2012
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0334588
Disease: Giant Cell Glioblastoma
Giant Cell Glioblastoma 		0.300 FusionGene ORPHANET Transforming fusions of FGFR and TACC genes in human glioblastoma. 22837387

2012