Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
Encephalocraniocutaneous lipomatosis
0.740 GeneticVariation UNIPROT Functional studies of ECCL fibroblast cell lines show increased levels of phosphorylated FGFRs and phosphorylated FRS2, a direct substrate of FGFR1, as well as constitutive activation of RAS-MAPK signaling. 26942290

2016

Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
Encephalocraniocutaneous lipomatosis
0.740 GeneticVariation UNIPROT The precise sequence of FGF receptor autophosphorylation is kinetically driven and is disrupted by oncogenic mutations. 19224897

2009