Annotation Detail
Information
- Associated Genes
- MLH1
- Associated Variants
-
MLH1 MUTATION
MLH1 MUTATION
DKK3 p.Arg349Gly (p.R349G) ( ENST00000525493.5, ENST00000396505.7, ENST00000683431.1, ENST00000326932.8 )
THBS1 p.Asn700Ser (p.N700S) ( ENST00000260356.6 )
LIPC p.Leu377Phe (p.L377F) ( ENST00000299022.10, ENST00000356113.10, ENST00000414170.7, ENST00000433326.2 )
DHX36 p.Ser416Cys (p.S416C) ( ENST00000308361.10, ENST00000329463.9, ENST00000496811.6 )
MLH1 p.Ile32Val (p.I32V) ( ENST00000456676.7, ENST00000231790.8, ENST00000536378.5, ENST00000450420.6, ENST00000616768.6, ENST00000673673.2, ENST00000673715.1, ENST00000673899.1, ENST00000713802.1 )
ASCC3 p.Ser1995Cys (p.S1995C) ( ENST00000369162.7 )
PSMB9 p.Val32Ile (p.V32I) ( ENST00000374859.3, ENST00000395330.5 )
PSMB9 p.Val32Leu (p.V32L) ( ENST00000374859.3, ENST00000395330.5 )
CPA4 p.Gly303Cys (p.G303C) ( ENST00000222482.10, ENST00000445470.6, ENST00000493259.5 )
AKAP9 p.Met463Ile (p.M463I) ( ENST00000356239.8, ENST00000359028.7, ENST00000679521.1, ENST00000679821.1, ENST00000680072.1, ENST00000680181.1, ENST00000680513.1, ENST00000680534.1, ENST00000680766.1, ENST00000680952.1, ENST00000681412.1, ENST00000681722.1 )
DKK3 p.Arg349Gly (p.R349G) ( ENST00000326932.8, ENST00000396505.7, ENST00000525493.5, ENST00000683431.1 )
THBS1 p.Asn700Ser (p.N700S) ( ENST00000260356.6 )
LIPC p.Leu377Phe (p.L377F) ( ENST00000299022.10, ENST00000356113.10, ENST00000414170.7, ENST00000433326.2 )
DHX36 p.Ser416Cys (p.S416C) ( ENST00000308361.10, ENST00000329463.9, ENST00000496811.6 )
MLH1 p.Ile32Val (p.I32V) ( ENST00000231790.8, ENST00000450420.6, ENST00000456676.7, ENST00000536378.5, ENST00000616768.6, ENST00000673673.2, ENST00000673715.1, ENST00000673899.1, ENST00000713802.1 )
ASCC3 p.Ser1995Cys (p.S1995C) ( ENST00000369162.7 )
PSMB9 p.Val32Ile (p.V32I) ( ENST00000374859.3, ENST00000395330.5 )
PSMB9 p.Val32Leu (p.V32L) ( ENST00000374859.3, ENST00000395330.5 )
CPA4 p.Gly303Cys (p.G303C) ( ENST00000222482.10, ENST00000445470.6, ENST00000493259.5 )
AKAP9 p.Met463Ile (p.M463I) ( ENST00000356239.8, ENST00000359028.7, ENST00000679521.1, ENST00000679821.1, ENST00000680072.1, ENST00000680181.1, ENST00000680513.1, ENST00000680534.1, ENST00000680766.1, ENST00000680952.1, ENST00000681412.1, ENST00000681722.1 ) - Associated Disease
- colorectal cancer
- Source Database
- DisGeNET
- Description
- Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with colorectal cancer risk in a comprehensive, array based study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, CA6 S90G, ASCC3 C1995S, DHX36 S416C and CPA4 G303C) were re-evaluated in the present study based on 626 German familial non-HNPCC colorectal cancer patients and 736 healthy controls.
- Pubmed
- 18619730
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.16
- Year of publication
- 2008
Drugs