Matches in Ubergraph for { <http://purl.obolibrary.org/obo/NCIT_C192163> ?p ?o ?g. }
Showing items 1 to 47 of
47
with 100 items per page.
- NCIT_C192163 IAO_0000115 "A nucleotide substitution at position 1510 of the coding sequence of the ALDH2 gene where guanine has been mutated to adenine." @default.
- NCIT_C192163 NCIT_NHC0 "C192163" @default.
- NCIT_C192163 NCIT_P106 "Cell or Molecular Dysfunction" @default.
- NCIT_C192163 NCIT_P107 "ALDH2 NM_000690.4:c.1510G>A" @default.
- NCIT_C192163 NCIT_P108 "ALDH2 NM_000690.4:c.1510G>A" @default.
- NCIT_C192163 NCIT_P171 "28253921" @default.
- NCIT_C192163 NCIT_P208 "CL1905557" @default.
- NCIT_C192163 NCIT_P315 "rs671" @default.
- NCIT_C192163 NCIT_P322 "CTRP" @default.
- NCIT_C192163 NCIT_P400 "18390" @default.
- NCIT_C192163 NCIT_P98 "ALDH2 c.1510G>A (also called the ALDH2*2 allele) encodes an inactive form of the enzyme that also exerts a dominant negative effect by increasing turnover of the protein. Upon expression of this variant, the drastic decrease of ALDH2 activity in the liver causes accumulation of acetaldehyde in the circulation, even after a moderate amount of alcohol intake, and is a factor in both acute alcohol intoxication and greater susceptibility to some types of cancer. ALDH2*2 expression is essentially absent among Europeans, but is highly prevalent among East Asians, where it causes cutaneous flushing following alcohol consumption. (EntrezGene, OMIM, J Biomed Sci. 2017; 24:19.)" @default.
- NCIT_C192163 NCIT_R177 NCIT_C16612 @default.
- NCIT_C192163 NCIT_R177 NCIT_C21281 @default.
- NCIT_C192163 NCIT_R177 NCIT_C25939 @default.
- NCIT_C192163 NCIT_R177 NCIT_C84921 @default.
- NCIT_C192163 NCIT_R178 NCIT_C192162 @default.
- NCIT_C192163 NCIT_R178 NCIT_C192164 @default.
- NCIT_C192163 NCIT_R178 NCIT_C3910 @default.
- NCIT_C192163 NCIT_R178 NCIT_C97926 @default.
- NCIT_C192163 NCIT_R178 NCIT_C97928 @default.
- NCIT_C192163 normalizedInformationContent "95.413332725061409" @default.
- NCIT_C192163 referenceCount "2" @default.
- NCIT_C192163 hasExactSynonym "ALDH-E2 c.1510G>A" @default.
- NCIT_C192163 hasExactSynonym "ALDH2 NM_000690.4:c.1510G>A" @default.
- NCIT_C192163 hasExactSynonym "ALDH2 c.1510G>A" @default.
- NCIT_C192163 hasExactSynonym "ALDH2*2 Allele" @default.
- NCIT_C192163 hasExactSynonym "ALDH2*2" @default.
- NCIT_C192163 hasExactSynonym "ALDHI c.1510G>A" @default.
- NCIT_C192163 hasExactSynonym "ALDM c.1510G>A" @default.
- NCIT_C192163 hasExactSynonym "Aldehyde Dehydrogenase 2 Family Member c.1510G>A" @default.
- NCIT_C192163 hasExactSynonym "NM_000690.4:c.1510G>A" @default.
- NCIT_C192163 inSubset NCIT_C116977 @default.
- NCIT_C192163 inSubset NCIT_C142799 @default.
- NCIT_C192163 inSubset NCIT_C142800 @default.
- NCIT_C192163 type Class @default.
- NCIT_C192163 isDefinedBy ncit.owl @default.
- NCIT_C192163 label "ALDH2 NM_000690.4:c.1510G>A" @default.
- NCIT_C192163 subClassOf B11152e26b5b7bc94597a2719e3e68389 @default.
- NCIT_C192163 subClassOf B1dedc3ca5d7b040d80258cce6a1afa05 @default.
- NCIT_C192163 subClassOf NCIT_C178119 @default.
- NCIT_C192163 subClassOf NCIT_C192161 @default.
- NCIT_C192163 subClassOf NCIT_C192163 @default.
- NCIT_C192163 subClassOf NCIT_C36327 @default.
- NCIT_C192163 subClassOf NCIT_C36391 @default.
- NCIT_C192163 subClassOf NCIT_C3910 @default.
- NCIT_C192163 subClassOf NCIT_C97926 @default.
- NCIT_C192163 subClassOf NCIT_C97927 @default.