Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C0432283
Disease: Osteoglophonic dwarfism
Osteoglophonic dwarfism
0.730 GeneticVariation BEFREE This report describes a mild form of OD and expands the phenotype related to FGFR1 mutations. 31319224

2020

Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C0432283
Disease: Osteoglophonic dwarfism
Osteoglophonic dwarfism
0.730 Biomarker BEFREE Using fluorescent microscopy, immunocytochemical assay, vitality tests and PCR-analysis, we have shown that population of GABAergic neurons are characterized by a different (faster) Ca<sup>2+</sup> dynamics in response to OGD and increased basal ROS production under OGD conditions. 30776416

2019

Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C0432283
Disease: Osteoglophonic dwarfism
Osteoglophonic dwarfism
0.730 Biomarker GENOMICS_ENGLAND FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly. 23812909

2013

Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C0432283
Disease: Osteoglophonic dwarfism
Osteoglophonic dwarfism
0.730 Biomarker GENOMICS_ENGLAND Osteoglophonic dysplasia: A 'common' mutation in a rare disease. 20236123

2010

Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C0432283
Disease: Osteoglophonic dwarfism
Osteoglophonic dwarfism
0.730 GeneticVariation UNIPROT Extended mutational analyses of FGFR1 in osteoglophonic dysplasia. 16470795

2006

Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C0432283
Disease: Osteoglophonic dwarfism
Osteoglophonic dwarfism
0.730 GeneticVariation UNIPROT We demonstrate here that OD is caused by missense mutations in highly conserved residues comprising the ligand-binding and transmembrane domains of FGFR1, thus defining novel roles for this receptor as a negative regulator of long-bone growth. 15625620

2005

Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C0432283
Disease: Osteoglophonic dwarfism
Osteoglophonic dwarfism
0.730 GeneticVariation BEFREE We demonstrate here that OD is caused by missense mutations in highly conserved residues comprising the ligand-binding and transmembrane domains of FGFR1, thus defining novel roles for this receptor as a negative regulator of long-bone growth. 15625620

2005

Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C0432283
Disease: Osteoglophonic dwarfism
Osteoglophonic dwarfism
0.730 GermlineCausalMutation ORPHANET We demonstrate here that OD is caused by missense mutations in highly conserved residues comprising the ligand-binding and transmembrane domains of FGFR1, thus defining novel roles for this receptor as a negative regulator of long-bone growth. 15625620

2005

Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C0432283
Disease: Osteoglophonic dwarfism
Osteoglophonic dwarfism
0.730 Biomarker GENOMICS_ENGLAND Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome. 12627230

2003

Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C0432283
Disease: Osteoglophonic dwarfism
Osteoglophonic dwarfism
0.730 Biomarker CTD_human

Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C0432283
Disease: Osteoglophonic dwarfism
Osteoglophonic dwarfism
0.730 CausalMutation CLINVAR

Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C0432283
Disease: Osteoglophonic dwarfism
Osteoglophonic dwarfism
0.730 GeneticVariation CLINVAR