PAX1, paired box 1, 5075

N. diseases: 89; N. variants: 3
Disease: Otofaciocervical Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1833691
Disease: Otofaciocervical Syndrome
Otofaciocervical Syndrome 		0.530 GeneticVariation disease BEFREE Autosomal recessive otofaciocervical syndrome type 2 with novel homozygous small insertion in PAX1 gene. 29681087 2018
CUI: C1833691
Disease: Otofaciocervical Syndrome
Otofaciocervical Syndrome 		0.530 GeneticVariation disease BEFREE A single family with an autosomal recessive form of OFCS and a homozygous missense mutation in PAX1 gene has been described. 28657137 2017
CUI: C1833691
Disease: Otofaciocervical Syndrome
Otofaciocervical Syndrome 		0.530 Biomarker disease BEFREE Taken together, our results show that the strategy of pooling DNA is a powerful, cost-effective application for WES in consanguineous families and establish PAX1 as a new disease-causing gene for OFCS and as part of the EYA-DACH-SIX-PAX network, important in early embryogenesis. 23851939 2013
CUI: C1833691
Disease: Otofaciocervical Syndrome
Otofaciocervical Syndrome 		0.530 GermlineCausalMutation disease ORPHANET Taken together, our results show that the strategy of pooling DNA is a powerful, cost-effective application for WES in consanguineous families and establish PAX1 as a new disease-causing gene for OFCS and as part of the EYA-DACH-SIX-PAX network, important in early embryogenesis. 23851939 2013
CUI: C1833691
Disease: Otofaciocervical Syndrome
Otofaciocervical Syndrome 		0.530 Biomarker disease CTD_human