IRX5, iroquois homeobox 5, 10265

N. diseases: 63; N. variants: 3
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387907198
rs387907198
Entrez Id: 10265
Gene Symbol: IRX5
IRX5
CUI: C1970027
Disease:
Hypertelorism, Severe, With Midface Prominence, Myopia, Mental Retardation, And Bone Fragility 		0.800 GeneticVariation UNIPROT Mutations in IRX5 impair craniofacial development and germ cell migration via SDF1. 22581230 2012
dbSNP: rs786200931
rs786200931
Entrez Id: 10265
Gene Symbol: IRX5
IRX5
CUI: C1970027
Disease:
Hypertelorism, Severe, With Midface Prominence, Myopia, Mental Retardation, And Bone Fragility 		0.800 GeneticVariation UNIPROT Mutations in IRX5 impair craniofacial development and germ cell migration via SDF1. 22581230 2012
dbSNP: rs387907198
rs387907198
Entrez Id: 10265
Gene Symbol: IRX5
IRX5
CUI: C1970027
Disease:
Hypertelorism, Severe, With Midface Prominence, Myopia, Mental Retardation, And Bone Fragility 		C 0.800 CausalMutation CLINVAR
dbSNP: rs786200931
rs786200931
Entrez Id: 10265
Gene Symbol: IRX5
IRX5
CUI: C1970027
Disease:
Hypertelorism, Severe, With Midface Prominence, Myopia, Mental Retardation, And Bone Fragility 		A 0.800 CausalMutation CLINVAR
dbSNP: rs1057518725
rs1057518725
Entrez Id: 10265
Gene Symbol: IRX5
IRX5
CUI: C1970027
Disease:
Hypertelorism, Severe, With Midface Prominence, Myopia, Mental Retardation, And Bone Fragility 		GT 0.700 CausalMutation CLINVAR