Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 401
Gene Symbol: PHOX2A
PHOX2A
0.730 Biomarker disease GENOMICS_ENGLAND [Identification of a novel PHOX2A gene mutation in a Chinese family with congenital fibrosis of extraocular muscles type 2]. 22311481 2012
Entrez Id: 401
Gene Symbol: PHOX2A
PHOX2A
0.730 GeneticVariation disease BEFREE It confirms PHOX2A as the autosomal recessive CFEOM2 disease gene and provides evidence that the phenotypic differences between PHOX2A mutations in man and mouse do not result from hypomorphic PHOX2A alleles in humans. 14597037 2003
Entrez Id: 401
Gene Symbol: PHOX2A
PHOX2A
0.730 GeneticVariation disease BEFREE We now identify additional pedigrees with CFEOM1 to determine if the disorder is genetically heterogeneous and, if so, if any affected members of CFEOM1 pedigrees or sporadic cases of classic CFEOM harbor mutations in ARIX, the CFEOM2 disease gene. 11882252 2002
Entrez Id: 401
Gene Symbol: PHOX2A
PHOX2A
0.730 GeneticVariation disease BEFREE This atypical form of CFEOM maps to the FEOM2 locus on chromosome 11q13 and results from mutations in ARIX (PHOX2A).(6,7) ARIX encodes a homeodomain transcription factor protein previously shown to be required for nIII/nIV development in mouse and zebrafish. 11960793 2002
Entrez Id: 401
Gene Symbol: PHOX2A
PHOX2A
0.730 GeneticVariation disease UNIPROT Homozygous mutations in ARIX(PHOX2A) result in congenital fibrosis of the extraocular muscles type 2. 11600883 2001
Entrez Id: 401
Gene Symbol: PHOX2A
PHOX2A
0.730 CausalMutation disease CLINVAR
Entrez Id: 401
Gene Symbol: PHOX2A
PHOX2A
0.730 Biomarker disease CTD_human