Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 60529
Gene Symbol: ALX4
ALX4
Midline facial cleft - Tessier cleft 0
0.030 GeneticVariation BEFREE Identification of a novel homozygous ALX4 mutation in two unrelated patients with frontonasal dysplasia type-2. 29681084

2018

Entrez Id: 60529
Gene Symbol: ALX4
ALX4
Midline facial cleft - Tessier cleft 0
0.030 GeneticVariation BEFREE Potocki-Shaffer deletion encompassing ALX4 in a patient with frontonasal dysplasia phenotype. 24376213

2014

Entrez Id: 60529
Gene Symbol: ALX4
ALX4
Midline facial cleft - Tessier cleft 0
0.030 GeneticVariation BEFREE We report a family with vertical transmission from mother to son of mild frontonasal dysplasia phenotype caused by a novel ALX4 gene mutation (c.1080-1089_delGACCCGGTGCinsCTAAGATCTCAACAGAGATGGCAACT, p.Asp326fsX21).This is the first report of a frontonasal phenotype related to a heterozygous mutation in ALX4. 23401352

2013