HOXB1, homeobox B1, 3211

N. diseases: 59; N. variants: 4
Disease: FACIAL PARESIS, HEREDITARY CONGENITAL, 3 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3553625
Disease: FACIAL PARESIS, HEREDITARY CONGENITAL, 3
FACIAL PARESIS, HEREDITARY CONGENITAL, 3 		0.600 Biomarker disease GENOMICS_ENGLAND HOXB1 founder mutation in humans recapitulates the phenotype of Hoxb1-/- mice. 22770981 2012
CUI: C3553625
Disease: FACIAL PARESIS, HEREDITARY CONGENITAL, 3
FACIAL PARESIS, HEREDITARY CONGENITAL, 3 		0.600 GeneticVariation disease UNIPROT HOXB1 founder mutation in humans recapitulates the phenotype of Hoxb1-/- mice. 22770981 2012
CUI: C3553625
Disease: FACIAL PARESIS, HEREDITARY CONGENITAL, 3
FACIAL PARESIS, HEREDITARY CONGENITAL, 3 		0.600 CausalMutation disease CLINVAR