FGFR1, fibroblast growth factor receptor 1, 2260

N. diseases: 330; N. variants: 67
Disease: Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate ×
Source: INFERRED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1845146
Disease: Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate 		0.750 CausalMutation disease CLINVAR In this report, we describe two siblings with Hartsfield syndrome and a novel de novo FGFR1 mutation suggesting gonadal mosaicism. 24888332 2014
CUI: C1845146
Disease: Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate 		0.750 CausalMutation disease 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
CUI: C1845146
Disease: Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate 		0.750 GeneticVariation disease CLINVAR