Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
0.750 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
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
0.750 GeneticVariation disease BEFREE This study expands the FGFR1 mutational spectrum associated with HS, provides functional evidence further supporting a dominant-negative effect of this category of FGFR1 variants and offers initial insights on dysregulation of autophagy in HS. 30787447 2019
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
0.750 GeneticVariation disease BEFREE Dominant-negative kinase domain mutations in FGFR1 can explain the clinical severity of Hartsfield syndrome. 26931467 2016
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
0.750 Biomarker disease GENOMICS_ENGLAND Mutational Spectrum in Holoprosencephaly Shows That FGF is a New Major Signaling Pathway. 27363716 2016
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
0.750 Biomarker disease GENOMICS_ENGLAND FGFR1 and PROKR2 rare variants found in patients with combined pituitary hormone deficiencies. 25759380 2015
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
0.750 Biomarker disease GENOMICS_ENGLAND Congenital hypogonadotropic hypogonadism with split hand/foot malformation: a clinical entity with a high frequency of FGFR1 mutations. 25394172 2015
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
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
0.750 GeneticVariation disease UNIPROT In this report, we describe two siblings with Hartsfield syndrome and a novel de novo FGFR1 mutation suggesting gonadal mosaicism. 24888332 2014
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
0.750 GeneticVariation disease BEFREE In this report, we describe two siblings with Hartsfield syndrome and a novel de novo FGFR1 mutation suggesting gonadal mosaicism. 24888332 2014
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
0.750 GeneticVariation disease UNIPROT 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
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
0.750 GermlineCausalMutation disease ORPHANET 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
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
0.750 Biomarker disease GENOMICS_ENGLAND 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
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
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
0.750 GeneticVariation disease BEFREE 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
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
0.750 Biomarker disease GENOMICS_ENGLAND Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome. 12627230 2003
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
0.750 GeneticVariation disease CLINVAR