Kearns-Sayre Syndrome Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description OMIM mapping confirmed by DO. [SN]. (Human Disease Ontology, DOID_12934)
External Link https://www.disgenet.org/browser/0/1/0/C0022541
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Genes

27 genes associated with the disease Kearns-Sayre Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ATXN7 ataxin 7
CALB1 calbindin 1, 28kDa
COQ8A coenzyme Q8A
GFER growth factor, augmenter of liver regeneration
GH1 growth hormone 1
GJA1 gap junction protein, alpha 1, 43kDa
IL1A interleukin 1, alpha
IL1B interleukin 1, beta
LOX lysyl oxidase
MAG myelin associated glycoprotein
MT-ATP6 ATP synthase F0 subunit 6
MT-ATP8 ATP synthase F0 subunit 8
MT-CYB cytochrome b
PANK2 pantothenate kinase 2
PGC progastricsin (pepsinogen C)
POLG polymerase (DNA directed), gamma
PPARGC1A peroxisome proliferator-activated receptor gamma, coactivator 1 alpha
PRPF6 pre-mRNA processing factor 6
RRM2B ribonucleotide reductase M2 B (TP53 inducible)
SGSH N-sulfoglucosamine sulfohydrolase
SLC25A4 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
SOD2 superoxide dismutase 2, mitochondrial
SPAG9 sperm associated antigen 9
SYP synaptophysin
TFAM transcription factor A, mitochondrial
TWNK twinkle mtDNA helicase
VARS2 valyl-tRNA synthetase 2, mitochondrial