Annotation Detail
Information
- Associated Genes
- LMX1B
- Associated Variants
-
LMX1B p.Gln82Ter (p.Q82*)
(
ENST00000355497.10,
ENST00000373474.9,
ENST00000526117.6 )
LMX1B p.Cys118Phe (p.C118F) ( ENST00000355497.10, ENST00000373474.9, ENST00000526117.6 )
LMX1B p.Arg221Ter (p.R221*) ( ENST00000355497.10, ENST00000373474.9, ENST00000526117.6 )
LMX1B p.Arg223Gln (p.R223Q) ( ENST00000355497.10, ENST00000373474.9, ENST00000526117.6 )
LMX1B p.Arg231Ter (p.R231*) ( ENST00000355497.10, ENST00000373474.9, ENST00000526117.6 )
LMX1B p.Arg249Ter (p.R249*) ( ENST00000355497.10, ENST00000373474.9, ENST00000526117.6 )
LMX1B p.Asn269Lys (p.N269K) ( ENST00000355497.10, ENST00000373474.9, ENST00000526117.6 )
LMX1B p.Asn269= (p.N269=) ( ENST00000355497.10, ENST00000373474.9, ENST00000526117.6 )
LMX1B p.Gln82Ter (p.Q82*) ( ENST00000355497.10, ENST00000373474.9, ENST00000526117.6 )
LMX1B p.Cys118Phe (p.C118F) ( ENST00000355497.10, ENST00000373474.9, ENST00000526117.6 )
LMX1B p.Arg221Ter (p.R221*) ( ENST00000355497.10, ENST00000373474.9, ENST00000526117.6 )
LMX1B p.Arg223Gln (p.R223Q) ( ENST00000355497.10, ENST00000373474.9, ENST00000526117.6 )
LMX1B p.Arg231Ter (p.R231*) ( ENST00000355497.10, ENST00000373474.9, ENST00000526117.6 )
LMX1B p.Arg249Ter (p.R249*) ( ENST00000355497.10, ENST00000373474.9, ENST00000526117.6 )
LMX1B p.Asn269Lys (p.N269K) ( ENST00000355497.10, ENST00000373474.9, ENST00000526117.6 )
LMX1B p.Asn269= (p.N269=) ( ENST00000355497.10, ENST00000373474.9, ENST00000526117.6 ) - Associated Disease
- nail-patella syndrome
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.592109593078789
- Year of publication
- NA
Drugs