Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0432283
Disease: Osteoglophonic dwarfism
Osteoglophonic dwarfism
0.730 GeneticVariation disease BEFREE This report describes a mild form of OD and expands the phenotype related to FGFR1 mutations. 31319224 2020
CUI: C0432283
Disease: Osteoglophonic dwarfism
Osteoglophonic dwarfism
0.730 Biomarker disease 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
CUI: C0432283
Disease: Osteoglophonic dwarfism
Osteoglophonic dwarfism
0.730 Biomarker disease GENOMICS_ENGLAND FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly. 23812909 2013
CUI: C0432283
Disease: Osteoglophonic dwarfism
Osteoglophonic dwarfism
0.730 Biomarker disease GENOMICS_ENGLAND Osteoglophonic dysplasia: A 'common' mutation in a rare disease. 20236123 2010
CUI: C0432283
Disease: Osteoglophonic dwarfism
Osteoglophonic dwarfism
0.730 GeneticVariation disease UNIPROT Extended mutational analyses of FGFR1 in osteoglophonic dysplasia. 16470795 2006
CUI: C0432283
Disease: Osteoglophonic dwarfism
Osteoglophonic dwarfism
0.730 GeneticVariation disease 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
CUI: C0432283
Disease: Osteoglophonic dwarfism
Osteoglophonic dwarfism
0.730 GeneticVariation disease 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
CUI: C0432283
Disease: Osteoglophonic dwarfism
Osteoglophonic dwarfism
0.730 GermlineCausalMutation disease 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
CUI: C0432283
Disease: Osteoglophonic dwarfism
Osteoglophonic dwarfism
0.730 Biomarker disease GENOMICS_ENGLAND Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome. 12627230 2003
CUI: C0432283
Disease: Osteoglophonic dwarfism
Osteoglophonic dwarfism
0.730 Biomarker disease CTD_human
CUI: C0432283
Disease: Osteoglophonic dwarfism
Osteoglophonic dwarfism
0.730 CausalMutation disease CLINVAR
CUI: C0432283
Disease: Osteoglophonic dwarfism
Osteoglophonic dwarfism
0.730 GeneticVariation disease CLINVAR