Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C0265535
Disease: Trigonocephaly
Trigonocephaly 		0.640 Biomarker 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
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C0265535
Disease: Trigonocephaly
Trigonocephaly 		0.640 GeneticVariation 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
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C0265535
Disease: Trigonocephaly
Trigonocephaly 		0.640 GeneticVariation 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
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C0265535
Disease: Trigonocephaly
Trigonocephaly 		0.640 GermlineCausalMutation ORPHANET An unusual FGFR1 mutation (fibroblast growth factor receptor 1 mutation) in a girl with non-syndromic trigonocephaly. 11173846

2000
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C0265535
Disease: Trigonocephaly
Trigonocephaly 		0.640 GeneticVariation BEFREE An unusual FGFR1 mutation (fibroblast growth factor receptor 1 mutation) in a girl with non-syndromic trigonocephaly. 11173846

2000
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C0265535
Disease: Trigonocephaly
Trigonocephaly 		0.640 Biomarker CTD_human

Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C0265535
Disease: Trigonocephaly
Trigonocephaly 		0.640 Biomarker HPO