rs869025671, FGFR1

N. diseases: 1
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
CUI: C1845146
Disease: Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
0.800 CausalMutation CLINVAR Novel de novo heterozygous FGFR1 mutation in two siblings with Hartsfield syndrome: a case of gonadal mosaicism. 24888332 2014
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
CUI: C1845146
Disease: Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
0.800 GeneticVariation UNIPROT Novel de novo heterozygous FGFR1 mutation in two siblings with Hartsfield syndrome: a case of gonadal mosaicism. 24888332 2014
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
CUI: C1845146
Disease: Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
0.800 GeneticVariation UNIPROT FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly. 23812909 2013