Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
0.750 CausalMutation CLINVAR In this report, we describe two siblings with Hartsfield syndrome and a novel de novo FGFR1 mutation suggesting gonadal mosaicism. 24888332

2014

Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
0.750 CausalMutation CLINVAR Dominant or recessive FGFR1 mutations are responsible for Hartsfield syndrome, consistent with the known roles of FGFR1 in vertebrate ontogeny and conditional Fgfr1-deficient mice. 23812909

2013

Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
0.750 GeneticVariation CLINVAR