Annotation Detail
Information
- Associated Genes
- DAAM2
- Associated Variants
-
rs1472189
(
ENST00000396505.7 )
DKK3 p.Arg349Gly (p.R349G) ( ENST00000525493.5, ENST00000396505.7, ENST00000683431.1, ENST00000326932.8 )
DKK3 c.830+429T>C ( ENST00000326932.8, ENST00000525493.5, ENST00000396505.7, ENST00000683431.1 )
DKK3 c.529-506G>C ( ENST00000683431.1, ENST00000396505.7, ENST00000525493.5, ENST00000326932.8 )
DKK3 c.528+43A>G ( ENST00000525493.5, ENST00000396505.7, ENST00000683431.1, ENST00000326932.8 )
SMAD7 c.743-5649G>A ( ENST00000262158.8, ENST00000589634.1, ENST00000591805.5 )
DKK2 c.*1019G>A ( ENST00000285311.8 )
DKK2 p.Arg146Leu (p.R146L) ( ENST00000285311.8, ENST00000510463.1, ENST00000513208.5 )
DKK2 p.Arg146Gln (p.R146Q) ( ENST00000285311.8, ENST00000510463.1, ENST00000513208.5 )
DKK2 c.223-6890C>T ( ENST00000285311.8, ENST00000510463.1, ENST00000513208.5 )
DAAM2 c.-56-24009A>G ( ENST00000274867.9, ENST00000398904.6, ENST00000538976.5, ENST00000633794.1 )
DAAM2 c.-56-1904A>G ( ENST00000274867.9, ENST00000398904.6, ENST00000405961.3, ENST00000538976.5, ENST00000633794.1 )
SFRP4 p.Arg340Lys (p.R340K), ENSG00000290149 c.-37-41339C>T ( ENST00000436072.7 )
SFRP4 p.Pro320Thr (p.P320T), ENSG00000290149 c.-37-41278G>T ( ENST00000436072.7 )
DKK4 p.Val169= (p.V169=) ( ENST00000220812.3 )
rs1472189 ( ENST00000396505.7 )
DKK3 p.Arg349Gly (p.R349G) ( ENST00000326932.8, ENST00000396505.7, ENST00000525493.5, ENST00000683431.1 )
DKK3 c.830+429T>C ( ENST00000326932.8, ENST00000396505.7, ENST00000525493.5, ENST00000683431.1 )
DKK3 c.529-506G>C ( ENST00000326932.8, ENST00000396505.7, ENST00000525493.5, ENST00000683431.1 )
DKK3 c.528+43A>G ( ENST00000326932.8, ENST00000396505.7, ENST00000525493.5, ENST00000683431.1 )
SMAD7 c.743-5649G>A ( ENST00000262158.8, ENST00000589634.1, ENST00000591805.5 )
DKK2 c.*1019G>A ( ENST00000285311.8 )
DKK2 p.Arg146Leu (p.R146L) ( ENST00000285311.8, ENST00000510463.1, ENST00000513208.5 )
DKK2 p.Arg146Gln (p.R146Q) ( ENST00000285311.8, ENST00000510463.1, ENST00000513208.5 )
DKK2 c.223-6890C>T ( ENST00000285311.8, ENST00000510463.1, ENST00000513208.5 )
DAAM2 c.-56-24009A>G ( ENST00000274867.9, ENST00000398904.6, ENST00000538976.5, ENST00000633794.1 )
DAAM2 c.-56-1904A>G ( ENST00000274867.9, ENST00000398904.6, ENST00000405961.3, ENST00000538976.5, ENST00000633794.1 )
SFRP4 p.Arg340Lys (p.R340K), ENSG00000290149 c.-37-41339C>T ( ENST00000436072.7 )
SFRP4 p.Pro320Thr (p.P320T), ENSG00000290149 c.-37-41278G>T ( ENST00000436072.7 )
DKK4 p.Val169= (p.V169=) ( ENST00000220812.3 ) - Associated Disease
- renal cell carcinoma
- Source Database
- DisGeNET
- Description
- including Dickkopf 2 (DKK2) (reference SNP identification number 17037102 [rs17037102], rs419558, and rs447372), DKK3 (rs3206824, rs11022095, rs1472189, rs7396187, and rs2291599), DKK4 (rs2073664), secreted frizzled-related protein 4 (sFRP4) (rs1802073 and rs1802074), mothers against decapentaplegic homolog (SMAD) family member 7 or SMAD7 (rs12953717), and disheveled associated activator of morphogenesis 2 or DAAM2 (rs6937133 and rs2504106) using polymerase chain reaction-restriction fragment length polymorphism analysis and direct sequencing in the patients with RCC and in the healthy, age-matched control group.
- Pubmed
- 19562778
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00263847385068233
- Year of publication
- 2009
Drugs