KLHL42, kelch like family member 42, 57542

N. diseases: 5; N. variants: 1
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1821417
Disease: RESTING HEART RATE
RESTING HEART RATE 		0.100 GeneticVariation phenotype GWASCAT Identification of genomic loci associated with resting heart rate and shared genetic predictors with all-cause mortality. 27798624 2016
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.020 GeneticVariation disease BEFREE We performed a replication study in a Japanese population to evaluate the association between type 2 diabetes and 7 susceptibility loci originally identified by European genome-wide association study (GWAS) in 2012: ZMIZ1, KLHDC5, TLE1, ANKRD55, CILP2, MC4R, and BCAR1. 25951451 2015
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.020 GeneticVariation disease BEFREE Recently, 10 novel type 2 diabetes (T2D) susceptibility single nucleotide polymorphisms (SNPs) in ZMIZ1, ANK1, KLHDC5, TLE1, ANKRD55, CILP2, MC4R, BCAR1, HMG20A, and GRB14 loci were discovered in MetaboChip-genotyped populations of European ancestry. 23457408 2013
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.010 GeneticVariation disease BEFREE The KLHDC5/PTHLH rs10492367 OA risk allele was associated with a wider upper femur in the whole shape model (P = 1 × 10<sup>-5</sup> ). 29882636 2018
CUI: C0029410
Disease: Osteoarthritis of hip
Osteoarthritis of hip 		0.010 GeneticVariation disease BEFREE Colocalization analysis indicated sharing of genetic signals for hip shape and hip OA for the KLHDC5/PTHLH and COL11A1 loci. 29882636 2018
CUI: C0036920
Disease: Sezary Syndrome
Sezary Syndrome 		0.010 AlteredExpression disease BEFREE For easier clinical use, these genes were re-analyzed in PBMC; qRT-PCR confirmed five novel (DNM3, IGFL2, CDO1, NEDD4L, KLHDC5) and two known genes (PLS3, TNFSF11) to be significantly overexpressed in SS. 18033314 2008