FGFR1, fibroblast growth factor receptor 1, 2260

N. diseases: 816; N. variants: 119
Disease: Trigonocephaly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265535
Disease: Trigonocephaly
Trigonocephaly 		0.640 Biomarker disease BEFREE Pathogenic variants in FGFR1 have been described to cause phenotypically different FGFR1-related disorders such as Hartsfield syndrome, hypogonadotropic hypogonadism with or without anosmia, Jackson-Weiss syndrome, osteoglophonic dysplasia, Pfeiffer syndrome, and trigonocephaly Type 1. 31512363 2019
CUI: C0265535
Disease: Trigonocephaly
Trigonocephaly 		0.640 GeneticVariation disease BEFREE FGFR1 (exon 7), CER1, and CDON are not related to trigonocephaly in our sample and should not be considered as causative genes for metopic synostosis. 16526918 2006
CUI: C0265535
Disease: Trigonocephaly
Trigonocephaly 		0.640 GeneticVariation disease BEFREE As a consequence we advise to routinely perform mutation analysis of the FGFR1, 2, and 3 genes in children with non-syndromic trigonocephaly. 17036334 2006
CUI: C0265535
Disease: Trigonocephaly
Trigonocephaly 		0.640 GermlineCausalMutation disease ORPHANET An unusual FGFR1 mutation (fibroblast growth factor receptor 1 mutation) in a girl with non-syndromic trigonocephaly. 11173846 2000
CUI: C0265535
Disease: Trigonocephaly
Trigonocephaly 		0.640 GeneticVariation disease BEFREE An unusual FGFR1 mutation (fibroblast growth factor receptor 1 mutation) in a girl with non-syndromic trigonocephaly. 11173846 2000
CUI: C0265535
Disease: Trigonocephaly
Trigonocephaly 		0.640 Biomarker disease CTD_human
CUI: C0265535
Disease: Trigonocephaly
Trigonocephaly 		0.640 Biomarker disease HPO