ALX4, ALX homeobox 4, 60529

N. diseases: 129; N. variants: 18
Disease: PARIETAL FORAMINA 2 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1865044
Disease: PARIETAL FORAMINA 2
PARIETAL FORAMINA 2 		0.700 Biomarker disease GENOMICS_ENGLAND A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations. 29215649 2018
CUI: C1865044
Disease: PARIETAL FORAMINA 2
PARIETAL FORAMINA 2 		0.700 Biomarker disease GENOMICS_ENGLAND A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations. 29215649 2018
CUI: C1865044
Disease: PARIETAL FORAMINA 2
PARIETAL FORAMINA 2 		0.700 GeneticVariation disease UNIPROT Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects. 11137991 2001
CUI: C1865044
Disease: PARIETAL FORAMINA 2
PARIETAL FORAMINA 2 		0.700 GeneticVariation disease UNIPROT The ALX4 homeobox gene is mutated in patients with ossification defects of the skull (foramina parietalia permagna, OMIM 168500). 11106354 2000
CUI: C1865044
Disease: PARIETAL FORAMINA 2
PARIETAL FORAMINA 2 		0.700 Biomarker disease CTD_human
CUI: C1865044
Disease: PARIETAL FORAMINA 2
PARIETAL FORAMINA 2 		0.700 CausalMutation disease CLINVAR