Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Encephalocraniocutaneous lipomatosis
0.740 AlteredExpression disease BEFREE The up-regulation of FGFR1 in umbilical cord tissue may lead to reproductive and developmental complications such as encephalocraniocutaneous lipomatosis, osteoglophonic dysplasia, and Pfeiffer syndrome in new-borns. 30428736 2020
Encephalocraniocutaneous lipomatosis
0.740 GeneticVariation disease BEFREE Here, we analyzed the molecular status of a patient with ECCL and a coexisting pilocytic astrocytoma with detected FGFR1 N546K mutation. 31173478 2019
Encephalocraniocutaneous lipomatosis
0.740 GeneticVariation disease BEFREE Targeted sequencing of tissue from the right gluteal mass, revealed a mosaic activating FGFR1 c.1966A>G (p.Lys656Glu) mutation, absent in normal left gluteal tissue, confirming the diagnosis of encephalocraniocutaneous lipomatosis (ECCL), belonging to the family of RASopathies (including neurofibromatosis type I, Noonan syndrome, Costello syndrome), with constitutive activation of the mitogen-activated protein kinase (MAPK) pathway, and an increased risk of developing neoplasms. 29683947 2018
Encephalocraniocutaneous lipomatosis
0.740 Biomarker disease GENOMICS_ENGLAND The Use of Variant Maps to Explore Domain-Specific Mutations of FGFR1. 28825856 2017
Encephalocraniocutaneous lipomatosis
0.740 GeneticVariation disease BEFREE Targeted resequencing of FGFR1 in multiple tissues from an independent cohort of individuals with ECCL identified one additional individual with a c.1638C>A (p.Asn546Lys) mutation in FGFR1. 26942290 2016
Encephalocraniocutaneous lipomatosis
0.740 SomaticCausalMutation disease ORPHANET 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
Encephalocraniocutaneous lipomatosis
0.740 GeneticVariation disease 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
Encephalocraniocutaneous lipomatosis
0.740 Biomarker disease GENOMICS_ENGLAND FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly. 23812909 2013
Encephalocraniocutaneous lipomatosis
0.740 GeneticVariation disease UNIPROT The precise sequence of FGF receptor autophosphorylation is kinetically driven and is disrupted by oncogenic mutations. 19224897 2009
Encephalocraniocutaneous lipomatosis
0.740 CausalMutation disease CLINVAR
Encephalocraniocutaneous lipomatosis
0.740 Biomarker disease CTD_human
Encephalocraniocutaneous lipomatosis
0.740 GeneticVariation disease CLINVAR