Posts Tagged ‘keyabbrev’

LDLR gene – Genetics Home Reference – NIH

Sunday, April 7th, 2019

https://ghr.nlm.nih.gov/gene/LDLR
LDLR – 4X risk for heart attack (currently most) + 5X incr risk for LOF variants

DRD2 gene – Genetics Home Reference – NIH

Sunday, April 7th, 2019

https://ghr.nlm.nih.gov/gene/DRD2

assoc w/ scz
dopamine receptor

DRD2 gene – Genetics Home Reference – NIH

Sunday, April 7th, 2019

https://ghr.nlm.nih.gov/gene/DRD2

assoc w/ scz
dopamine receptor

LDLR gene – Genetics Home Reference – NIH

Sunday, April 7th, 2019

https://ghr.nlm.nih.gov/gene/LDLR
LDLR – 4X risk for heart attack (currently most) + 5X incr risk for LOF variants

The highly pleiotropic gene SLC39A8 as an opportunity to gain insight into the molecular pathogenesis of schizophrenia – Costas – 2018 – American Journal of Medical Genetics Part B: Neuropsychiatric Genetics – Wiley Online Library

Sunday, April 7th, 2019

https://onlinelibrary.wiley.com/doi/full/10.1002/ajmg.b.32545

assoc w. SCZ+Chron’s
protective to Parkinson’s

Tess (given name) – Wikipedia

Sunday, December 2nd, 2018

Tess= Esther
https://en.m.wikipedia.org/wiki/Tess_(given_name)

rs12913832 – SNPedia

Monday, November 12th, 2018

https://www.snpedia.com/index.php/Rs12913832

AA – hom ref (Brown eyes)
GG – is blue eyes

rs4988235 – SNPedia

Monday, November 12th, 2018

https://www.snpedia.com/index.php/Rs4988235

QT:{{"
Also known as "C/T(-13910)", and located in the MCM6 gene but with influence on the lactase LCT gene, rs4988235 is one of two SNPs that is associated with the primary haplotype associated with hypolactasia, more commonly known as lactose intolerance in European Caucasian populations.

(C;C) 2.5 likely to be lactose intolerant as an adult
(C;T) 1.1 likely to be able to digest milk as an adult
(T;T) 1.1 can digest milk

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rs1815739 – SNPedia

Monday, November 12th, 2018

https://www.snpedia.com/index.php/Rs1815739
CC encodes RR in ACTN3, sprinter

TT "" stop-stop "" "", endurance athlete

Dopamine receptor D2 – Wikipedia – DRD2

Saturday, November 3rd, 2018

https://en.wikipedia.org/wiki/Dopamine_receptor_D2

QT:{{”
Dopamine receptor D2, also known as D2R, is a protein that, in humans, is encoded by the DRD2gene. After work from Paul Greengard’s lab had suggested that dopamine receptors were the site of action of antipsychotic drugs, several groups (including those of Solomon Snyder and Philip Seeman) used a radiolabeled antipsychotic drug to identify what is now known as the dopamine D2receptor.[5] The dopamine D2 receptor is the main receptor for most antipsychotic drugs. The structure of DRD2 in complex with the atypical antipsychotic risperidone has been determined.[6]
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