HOXB1, homeobox B1, 3211

N. diseases: 59; N. variants: 4
Disease: FACIAL PARESIS, HEREDITARY CONGENITAL, 3 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387907239
rs387907239
Entrez Id: 3211
Gene Symbol: HOXB1
HOXB1
CUI: C3553625
Disease:
FACIAL PARESIS, HEREDITARY CONGENITAL, 3 		0.800 GeneticVariation UNIPROT HOXB1 founder mutation in humans recapitulates the phenotype of Hoxb1-/- mice. 22770981 2012
dbSNP: rs387907239
rs387907239
Entrez Id: 3211
Gene Symbol: HOXB1
HOXB1
CUI: C3553625
Disease:
FACIAL PARESIS, HEREDITARY CONGENITAL, 3 		A 0.800 CausalMutation CLINVAR
dbSNP: rs1247386618
rs1247386618
Entrez Id: 3211
Gene Symbol: HOXB1
HOXB1
CUI: C3553625
Disease:
FACIAL PARESIS, HEREDITARY CONGENITAL, 3 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1555632121
rs1555632121
Entrez Id: 3211
Gene Symbol: HOXB1
HOXB1
CUI: C3553625
Disease:
FACIAL PARESIS, HEREDITARY CONGENITAL, 3 		T 0.700 CausalMutation CLINVAR