FOXF1, forkhead box F1, 2294

N. diseases: 135; N. variants: 7
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs761162914
rs761162914
Entrez Id: 2294
Gene Symbol: FOXF1
FOXF1
CUI: C0031190
Disease:
Persistent Fetal Circulation Syndrome 		0.700 GeneticVariation UNIPROT Variable phenotypic presentation of a novel FOXF1 missense mutation in a single family. 27145217 2016
dbSNP: rs761162914
rs761162914
Entrez Id: 2294
Gene Symbol: FOXF1
FOXF1
CUI: C0031190
Disease:
Persistent Fetal Circulation Syndrome 		0.700 GeneticVariation UNIPROT Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain. 23505205 2013
dbSNP: rs761162914
rs761162914
Entrez Id: 2294
Gene Symbol: FOXF1
FOXF1
CUI: C0031190
Disease:
Persistent Fetal Circulation Syndrome 		0.700 GeneticVariation UNIPROT Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations. 19500772 2009
dbSNP: rs752504125
rs752504125
Entrez Id: 2294
Gene Symbol: FOXF1
FOXF1
CUI: C4225671
Disease:
VATER/VACTERL ASSOCIATION 		T 0.700 GeneticVariation CLINVAR [Characteristics of the formation of conditioned responses in the isolated LPa3 neuron of the edible snail]. 2629409 1990
dbSNP: rs1057518868
rs1057518868
Entrez Id: 2294;400550
Gene Symbol: FOXF1;FENDRR
FOXF1;FENDRR
CUI: C2931117
Disease:
Fetal megacystis 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1057518868
rs1057518868
Entrez Id: 2294;400550
Gene Symbol: FOXF1;FENDRR
FOXF1;FENDRR
CUI: C0018818
Disease:
Ventricular Septal Defects 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1057518868
rs1057518868
Entrez Id: 2294;400550
Gene Symbol: FOXF1;FENDRR
FOXF1;FENDRR
CUI: C1610065
Disease:
Urethral atresia 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs121909336
rs121909336
Entrez Id: 2294;400550
Gene Symbol: FOXF1;FENDRR
FOXF1;FENDRR
CUI: C0031190
Disease:
Persistent Fetal Circulation Syndrome 		A 0.700 CausalMutation CLINVAR
dbSNP: rs121909337
rs121909337
Entrez Id: 2294
Gene Symbol: FOXF1
FOXF1
CUI: C0031190
Disease:
Persistent Fetal Circulation Syndrome 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1567511932
rs1567511932
Entrez Id: 2294
Gene Symbol: FOXF1
FOXF1
CUI: C0031190
Disease:
Persistent Fetal Circulation Syndrome 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs672601295
rs672601295
Entrez Id: 2294
Gene Symbol: FOXF1
FOXF1
CUI: C2675862
Disease:
Pyloric Stenosis, Infantile Hypertrophic, 5 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs672601295
rs672601295
Entrez Id: 2294
Gene Symbol: FOXF1
FOXF1
CUI: C1867403
Disease:
Pyloric Stenosis, Infantile Hypertrophic 1 		0.010 GeneticVariation BEFREE These results provide strong evidence that the R139Q substitution in FOXF1 causes IHPS in this family and imply a novel pathological pathway for the condition. 27855150 2017