ALX4, ALX homeobox 4, 60529

N. diseases: 129; N. variants: 18
Disease: FRONTONASAL DYSPLASIA 2 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3150703
Disease: FRONTONASAL DYSPLASIA 2
FRONTONASAL DYSPLASIA 2 		0.600 Biomarker disease GENOMICS_ENGLAND A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations. 29215649 2018
CUI: C3150703
Disease: FRONTONASAL DYSPLASIA 2
FRONTONASAL DYSPLASIA 2 		0.600 Biomarker disease GENOMICS_ENGLAND A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations. 29215649 2018
CUI: C3150703
Disease: FRONTONASAL DYSPLASIA 2
FRONTONASAL DYSPLASIA 2 		0.600 GermlineCausalMutation disease ORPHANET Vertical transmission of a frontonasal phenotype caused by a novel ALX4 mutation. 23401352 2013
CUI: C3150703
Disease: FRONTONASAL DYSPLASIA 2
FRONTONASAL DYSPLASIA 2 		0.600 CausalMutation disease CLINVAR